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LOVD - Variant listings for BMP1

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14 entries
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Exon Hide Exon column Descending
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DNA change   Descending
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dbSNP Hide dbSNP column Descending
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Type Hide Type column Descending
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RNA change Hide RNA change column Descending
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01 c.34G>C
  (Reported 8 times)
- Substitution Missense p.(Gly12Arg) - - BMP1_00002
1i c.148+1G>A - Substitution Splice site - - - BMP1_00016
06 c.747C>G
  (Reported 2 times)
- Substitution Missense p.(Phe249Leu) - - BMP1_00001
06 c.808A>G - Substitution Missense p.(Met270Val) - - BMP1_00004
07 c.925delG - Deletion Frameshift p.(Asp309Thrfs*54) - - BMP1_00008
10 c.1297G>T - Substitution Splice site - - - BMP1_00005
11 c.1324G>T - Substitution Missense p.Asp441Tyr - - BMP1_00015
12 c.1492G>A - Substitution Missense p.(Gly498Arg) - - BMP1_00009
12 c.1530T>G - Substitution Missense p.(Cys510Trp) - - BMP1_00003
14 c.1839delC - Deletion Frameshift p.(Asn614Thrfs*138) - - BMP1_00010
15 c.2107G>C - Substitution Splice site - - - BMP1_00007
16 c.2188dupC - Duplication Frameshift p.(Gln730Profs*?) - - BMP1_00011
17 c.2350C>G - Substitution Missense p.Arg784Gly - - BMP1_00017
20 c.*241T>C
  (Reported 7 times)
- Substitution PolyA site - - - BMP1_00006
1 - 14

Legend: [ BMP1 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Genomic Reference Sequence.
Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. dbSNP: dbSNP Type: Type of variant at DNA level. Mutation effect: Mutation effect at protein or RNA level. Protein: Variation at protein level. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. BMP1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.