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LOVD - Variant listings for COL1A1

Warning Please note that this overview may not be complete, as variants with unknown effect to the phenotype are left out.

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52 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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Mutation effect Hide Mutation effect column Descending
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Protein Hide Protein column Descending
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Legacy change Hide Legacy change column Descending
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RNA change Hide RNA change column Descending
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DB-ID Hide DB-ID column Descending
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02 c.177G>T dbSNP - Substitution Silent p.(=) - - - COL1A1_00500
02 c.266G>T - - Substitution Missense p.(Gly89Val) - - - COL1A1_00629
05 c.462C>T dbSNP - Substitution Silent p.(=) - - - COL1A1_00507
08 c.612C>T - - Substitution Silent p.(=) - - - COL1A1_00501
08 c.613C>G
  (Reported 6 times)
dbSNP - Substitution Missense p.(Pro205Ala) Pro27Ala - - COL1A1_00010
10 c.740C>T - - Substitution Missense p.(Pro247Leu) Pro69Leu - - COL1A1_00633
12i c.858+24G>A - - Substitution Other - - - - COL1A1_00913
16 c.1045G>T
  (Reported 2 times)
dbSNP - Substitution Missense p.(Val349Phe) Val171Phe - - COL1A1_00451
18 c.1168G>A
  (Reported 2 times)
- - Substitution Missense p.(Ala390Thr) - - - COL1A1_00482
23 c.1548T>C dbSNP - Substitution Silent p.(=) - - - COL1A1_00572
23i c.1615-4C>A dbSNP - Substitution Splice site - - - - COL1A1_00411
26 c.1803C>T - - Substitution Silent p.(=) - - - COL1A1_00502
26 c.1821C>T
  (Reported 2 times)
dbSNP - Substitution Silent p.(=) - - - COL1A1_00508
29i c.1984-5C>A
  (Reported 6 times)
dbSNP - Substitution Splice site - - - - COL1A1_00423
30 c.2005G>A
  (Reported 3 times)
- - Substitution Missense p.(Ala669Thr) Ala491Thr - - COL1A1_01051
31 c.2072C>T - - Substitution Missense p.(Pro691Leu) Pro513Leu - - COL1A1_00600
31 c.2115C>T
  (Reported 2 times)
dbSNP - Substitution Silent p.(=) - - - COL1A1_00503
32 c.2168C>T - - Substitution Missense p.(Ala723Val) - - - COL1A1_00816
32 c.2175C>T
  (Reported 2 times)
dbSNP - Substitution Silent p.(=) - - - COL1A1_00504
32i c.2236-1G>A - - Substitution Frameshift - - - - COL1A1_00986
35 c.2382A>G - - Substitution Silent p.(Gly794=) - - - COL1A1_00935
40 c.2716G>A - - Substitution Missense p.Gly906Ser Gly728Ser - - COL1A1_00607
41 c.2932C>T - - Substitution Missense p.(Pro978Ser) Pro800Ser - - COL1A1_00622
42 c.3033A>T - - Substitution Missense p.Glu1011Asp - - - COL1A1_00630
42i c.3046-6_3046-5dup - - Duplication Splice site - - - - COL1A1_00738
44i c.3208-6C>T - - Substitution Splice site - - - - COL1A1_00857
45 c.3223G>A dbSNP - Substitution Missense p.(Ala1075Thr) Ala897Thr - - COL1A1_00505
45 c.3243T>C dbSNP - Substitution Silent p.(=) - - - COL1A1_00509
45 c.3247G>A - - Substitution Missense p.(Ala1083Thr) Ala865Thr - - COL1A1_00891
46 c.3278G>A dbSNP - Substitution Missense p.(Arg1093His) - - - COL1A1_00942
46 c.3319A>T - - Substitution Missense p.(Ile1107Leu) Ile929Leu - - COL1A1_00786
47 c.3422G>A dbSNP - Substitution Missense p.(Arg1141Gln) Arg963Gln - - COL1A1_00510
48 c.3459T>C dbSNP - Substitution Silent p.(=) - - - COL1A1_00506
48 c.3529G>A dbSNP - Substitution Missense p.(Val1177Ile) Val999Ile - - COL1A1_00511
49 c.3548C>T - - Substitution Missense p.(Pro1183Leu) - - - COL1A1_00614
49 c.3752G>C dbSNP - Substitution Missense p.(Ser1251Thr) - - - COL1A1_00563
49 c.3755G>A - - Substitution Missense p.(Arg1252His) - - - COL1A1_01070
49 c.3766G>A
  (Reported 2 times)
- - Substitution Missense p.(Ala1256Thr) - - - COL1A1_00702
49 c.3785T>G - - Substitution Missense p.Leu1262Arg - - - COL1A1_00623
51 c.4009G>A - - Substitution Missense p.(Glu1337Lys) Glu1159Lys - - COL1A1_00855
51 c.4018G>A - - Substitution Missense p.Gly1340Ser - - - COL1A1_00539
51 c.4067G>A - - Substitution Missense p.Arg1356His - - - COL1A1_00628
51 c.4113G>A dbSNP - Substitution Silent p.(=) - - - COL1A1_00512
51 c.4154A>G - - Substitution Missense p.(Lys1385Arg) - - - COL1A1_00805
51 c.4179C>T dbSNP - Substitution Silent p.(=) - - - COL1A1_00513
51 c.4181A>G - - Substitution Missense p.(Asn1394Ser) - - - COL1A1_00615
51 c.4281T>C dbSNP - Substitution Silent p.(=) - - - COL1A1_00558
51 c.4291A>C dbSNP - Substitution Missense p.(Thr1431Pro) - - - COL1A1_00557
51 c.4296C>A dbSNP - Substitution Silent p.(=) - - - COL1A1_00556
52 c.4257C>T - - Substitution Silent p.(=) - - - COL1A1_00514
52 c.4313C>G dbSNP - Substitution Missense p.(Pro1438Arg) - - - COL1A1_00555
52 c.4363G>A - - Substitution Missense p.(Gly1455Ser) - - - COL1A1_00806
1 - 52

Legend: [ COL1A1 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 ClinVar: ClinVar Type: Type of variant at DNA level. Mutation effect: Mutation effect at protein or RNA level. Protein: Variation at protein level. Legacy change: "Traditional" (legacy) amino acid numbering RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. COL1A1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.