LOVD - Legend for WNT1



Sequence variations are described basically as recommended by the Ad-Hoc Nomenclature Committee of the Human Genome Variation Society (HGVS). For the most recent recommendations see the HGVS "Nomenclature for the description of sequence variants" web page. The most recent publication on the subject is by den Dunnen JT & Antonarakis SE (2000), Hum.Mut. 15: 7-12.

Genomic Reference Sequence.

NOTE: in all cases, unless indicated otherwise, all data of an entry are as reported by the author(s)/submitter.

Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown.

Exon: Exon numbering.

DNA change: Variation at DNA level.

dbSNP: dbSNP

Type: Type of variant at DNA level.
  • Substitution
  • Deletion
  • Duplication
  • Insertion
  • Inversion
  • Insertion/Deletion
  • Translocation
  • Other/Complex

Mutation effect: Mutation effect at protein or RNA level.
  • Cryptic splice site
  • Duplication
  • Exon deletion
  • Frameshift
  • In-frame deletion
  • In-frame insertion
  • In-frame deletion/insertion
  • Initiating methionine
  • Missense
  • Multi-exon deletion
  • Nonsense
  • Other
  • PolyA site
  • Silent
  • Splice site
  • Stop codon mutated
  • UTR variant
  • Whole gene deletion

Protein: Predicted effect of change on protein (usually without experimental proof!)
  • ? = unknown
  • (0) = change expected to abolish translation
  • ?fs = frame shift, but observed phenotype does not fit with prediction (for instance less severe phenotype (BMD) observed, more severe phenotype (DMD) expected)
  • ?no fs = frame shift, but observed phenotype does not fit with prediction (for instance more severe phenotype (DMD) observed, less severe phenotype (BMD) expected)
  • del = causes deletion
  • fs = causes frame shift
  • fs? = effect on reading frame very likely (no experimental proof)
  • (fs?) = might affect the reading frame (no experimental proof)
  • no fs = does not cause frame shift
  • X = stop codon (nonsense)


RNA change: Effect of change on RNA.
  • = = RNA change identical to DNA change
  • ? = unknown
  • (=) = no significant effect expected (but no experimental proof)
  • (0) = change expected to abolish transcription
  • (ex4ex5del) = probably deletion of exons 4 to 5
  • (ex4ex5dup) = probably duplication of exons 4 to 5
  • +cry = activation of cryptic splice site (no sequence published)
  • spl? = effect on splicing very likely (no experimental proof), examples;
    • splice donor site change (nucleotides +1 to +5 affected)
    • splice acceptor site change (nucleotides -2 to -1 affected)
    • new intronic AG splice acceptor di-nucleotide created close to (within 15 nucleotides) of normal splice acceptor site
  • (spl?) = might affect splicing (no experimental proof), examples;
    • change affects first or last nucleotide of exon
    • change creates strong splice donor or splice acceptor site in exon


Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site.

WNT1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.

Patient ID: Internal reference to the patient, such as an hospital patient id.

Disease: Disease phenotype of the patient(s).
  • Aneurysm = Aneurysm
  • AFF = Atypical femoral fractures
  • Bone fragility = Bone fragility
  • Bruck syndrome type 1 = Bruck syndrome type 1
  • Bruck syndrome type 2 = Bruck syndrome type 2
  • Bruck syndrome type 3 = Bruck syndrome type 3
  • Caffey disease = Caffey disease
  • Cole-Carpenter Syndrome = Cole-Carpenter Syndrome
  • Familial Otosclerosis = Familial Dominant Otosclerosis
  • Fracturing bone disease = Fracturing bone disease
  • Glaucoma = Glaucoma
  • Gnathodiaphyseal dysplasia = Gnathodiaphyseal dysplasia
  • Kuskokwim Disease = Kuskokwim Disease
  • Marfan syndrome = Marfan syndrome
  • Osteoporosis = Osteoporosis
  • XL Osteoporosis = X-linked Osteoporosis with Fractures
  • OI XL = X-linked Osteogenesis Imperfecta
  • Osteopaenia = Osteopaenia
  • Skeletal dysplasia = Skeletal dysplasia
  • OI I = Osteogenesis Imperfecta Type I
  • OI IA = Osteogenesis Imperfecta Type IA
  • OI IB = Osteogenesis Imperfecta Type IB
  • OI II = Osteogenesis Imperfecta Type II
  • OI IIA = Osteogenesis Imperfecta Type IIA
  • OI IIB = Osteogenesis Imperfecta Type IIB
  • OI IIC = Osteogenesis Imperfecta Type IIC
  • OI II US = Osteogenesis Imperfecta Type II diagnosed by ultrasound
  • OI III = Osteogenesis Imperfecta Type III
  • OI IV = Osteogenesis Imperfecta Type IV
  • OI IVB = Osteogenesis Imperfecta Type IVB
  • OI V = Osteogenesis Imperfecta Type V
  • OI VI = Osteogenesis Imperfecta Type VI
  • OI VII = Osteogenesis Imperfecta Type VII
  • OI VIII = Osteogenesis Imperfecta Type VIII
  • OI IX = Osteogenesis Imperfecta Type IX
  • OI XI = Osteogenesis Imperfecta Type XI
  • OI XII= Osteogenesis Imperfecta Type XIII
  • OI XIV = Osteogenesis Imperfecta Type XIV
  • OI I/IV = Osteogenesis Imperfecta Type I/IV
  • OI II/III = Osteogenesis Imperfecta Type II/III
  • OI IIB/III = Osteogenesis Imperfecta Type IIB/III
  • OI IIC/III = Osteogenesis Imperfecta Type IIC/III
  • OI III/IV = Osteogenesis Imperfecta Type III/IV
  • OI III/IVB = Osteogenesis Imperfecta Type III/IVB
  • OI = Osteogenesis imperfecta - type not declared
  • OI ? = Osteogenesis imperfecta diagnosis uncertain
  • EDS = Ehlers Danlos Syndrome - type not declared
  • cEDS = Classical Ehlers-Danlos Syndrome
  • EDS VIIA = Ehlers-Danlos Syndrome Type VIIA
  • EDS VIIB = Ehlers-Danlos Syndrome Type VIIB
  • EDS I = Ehlers-Danlos Syndrome Type I
  • OI/EDS = Osteogenesis Imperfecta/Ehlers-Danlos Syndrome
  • OI/EDS VIIB = Osteogenesis Imperfecta/Ehlers-Danlos Syndrome Type VIIB
  • Weakness of connective tissues = Weakness of connective tissues
  • DI = Dentinogenesis Imperfecta

Reference: Literature reference with possible link to publication in PubMed, dbSNP entry or other online resource. "Submitted:" indicates that the mutation was submitted directly to this database by the laboratory indicated.

Template: Variant detected in DNA, RNA and/or Protein.
  • DNA
  • RNA
  • Protein
  • Unknown

Technique: Technique used to reveal the change reported. For all methods, confirmation by sequencing (SEQ) is included. Select SEQ only when none of other techniques was used.
  • array CGH = Array Comparative Genomic Hybridization
  • BESS = Base Excision Sequence Scanning
  • CD = Circular Dichroism
  • CMA = Chromosomal Microarray
  • CMC = Chemical Mismatch Cleavage
  • CGP = Custom Gene Panel
  • CNGP = Custom NGS Gene Panel
  • CNEP = Custom NGS Exome panel
  • DGGE = Denaturing-Gradient Gel-Electrophoresis
  • DHPLC = Denaturing High-Performance Liquid Chromatography
  • DOVAM = Detection Of Virtually All Mutations (SSCA variant)
  • DSCA = Double-Strand DNA Conformation Analysis
  • HD = HeteroDuplex analysis
  • HRM = High Resolution Melting
  • HTS = High Throughput Sequencing
  • IHC = Immuno-Histo-Chemistry
  • mPCR = multiplex PCR
  • MAPH = Multiplex Amplifiable Probe Hybridisation
  • MLPA = Multiplex Ligation-dependent Probe Amplification
  • PAGE = Poly-Acrylamide Gel-Electrophoresis
  • PCR = Polymerase Chain Reaction
  • PTT = Protein Truncation Test
  • RT-PCR = Reverse Transcription and PCR
  • SEQ = SEQuencing
  • SeqArray = Sequencing Array
  • Southern = Southern Blotting
  • SSCA = Single-Strand DNA Conformation Analysis (SSCP)
  • Western = Western Blotting
  • WES = Whole Exome Sequencing
  • WGS = Whole Genome Sequencing
  • Unknown = Unknown

Ethnic origin: Ethnic origin of the patient