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The COL3A1 mutation data have been added to a new database.

LOVD - Variant listings for COL3A1

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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44 entries
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Mutation Effect Hide Mutation Effect column Descending
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Legacy change Hide Legacy change column Descending
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02 c.119C>T - Substitution Missense p.Ala40Val - - - - COL3A1_00746
02 c.130G>A - Substitution Missense p.Val44Ile - - - - COL3A1_00587
02 c.198A>G - Substitution Missense p.Ile66Met - - - - COL3A1_00631
07 c.531C>A dbSNP Substitution Silent p.= - - - - COL3A1_00183
12 c.805G>C - Substitution Missense p.Asp269His Asp102His - - - COL3A1_00727
12 c.812G>A
  (Reported 3 times)		 dbSNP Substitution Missense p.Arg271Gln Arg104Gln - - - COL3A1_00230
15 c.973G>T - Substitution Missense p.Ala325Ser Ala158Ser - - - COL3A1_00752
15 c.977G>A - Substitution Missense p.(Arg326Gln) Arg159Gln - - - COL3A1_00642
18 c.1165A>T
  (Reported 2 times)		 - Substitution Missense p.Asn389Tyr Asn222Tyr - - - COL3A1_00592
19 c.1201G>A - Substitution Missense p.Ala401Thr Ala234Thr - - - COL3A1_00728
19 c.1257C>T dbSNP Substitution Silent p.= - - - - COL3A1_00184
19 c.1258G>A - Substitution Missense p.Gly420Ser Gly253Ser - - - COL3A1_00228
19 c.1258G>C - Substitution Missense p.Gly420Arg Gly253Arg - - - COL3A1_00754
23 c.1550C>T - Substitution Missense p.Pro517Leu Pro350Leu - - - COL3A1_00269
24 c.1659T>A dbSNP Substitution Silent p.= - - - - COL3A1_00185
26 c.1804C>A
  (Reported 4 times)		 dbSNP Substitution Missense p.Pro602Thr Pro435Thr - - - COL3A1_00197
26i c.1815+5G>A dbSNP Substitution Splice site - - - - - COL3A1_00277
27 c.1851G>A dbSNP Substitution Silent p.= - - - - COL3A1_00198
29 c.1927T>C dbSNP Substitution Silent p.= - - - - COL3A1_00186
30 c.2002C>A
  (Reported 3 times)		 - Substitution Missense p.Pro668Thr Pro501Thr - - - COL3A1_00136
31 c.2035G>A dbSNP Substitution Missense p.Ala679Thr Ala512Thr - - - COL3A1_00187
31 c.2044G>A - Substitution Missense p.Glu682Lys - - - - COL3A1_00632
31 c.2056C>G dbSNP Substitution Missense p.Pro686Ala Pro519Ala - - - COL3A1_00201
31 c.2092G>A
  (Reported 2 times)		 dbSNP Substitution Missense p.Ala698Thr Ala531Thr - - - COL3A1_00137
31 c.2108C>T - Substitution Missense p.Pro703Leu Pro536Leu - - - COL3A1_00744
32 c.2229G>A - Substitution Silent - - - - - COL3A1_00729
33 c.2244T>C dbSNP Substitution Silent p.= - - - - COL3A1_00138
34 c.2295_2312del - Deletion In-frame deletion p.Ile767_Pro772del Ile600_Pro605del - - - COL3A1_00753
40i c.2823+2T>A - Substitution Splice site - - - - - COL3A1_00751
42 c.2958C>T dbSNP Substitution Silent p.= - - - - COL3A1_00188
43 c.3061C>A - Substitution Missense p.Leu1021Ile p.Leu854Ile - - - COL3A1_00608
44 c.3133G>A - Substitution Missense p.Ala1045Thr Ala878Thr - - - COL3A1_00747
44 c.3199A>T
  (Reported 2 times)		 - Substitution Missense p.(Ser1067Cys) Ser900Cys - - - COL3A1_00690
48 c.3508G>A - Substitution Missense p.Gly1170Ser Gly1003Ser - - - COL3A1_00273
49 c.3613A>G dbSNP Substitution Missense p.Ile1205Val - - - - COL3A1_00181
49 c.3654G>T dbSNP Substitution Silent p.= - - - - COL3A1_00189
49 c.3690C>G - Substitution Missense p.(Asn1230Lys) - - - - COL3A1_00643
49 c.3776C>T
  (Reported 3 times)		 - Substitution Missense p.Ala1259Val - - - - COL3A1_00616
49 c.3777T>C dbSNP Substitution Silent p.= - - - - COL3A1_00207
49 c.3818A>G
  (Reported 4 times)		 - Substitution Missense p.Lys1273Arg - - - - COL3A1_00317
50 c.3938A>G
  (Reported 3 times)		 - Substitution Missense p.Lys1313Arg - - - - COL3A1_00231
51 c.4059G>T dbSNP Substitution Missense p.Gln1353His - - - - COL3A1_00182
52 c.4276A>G - Substitution Missense p.(Lys1426Glu) - - - - COL3A1_00644
52 c.4304A>G dbSNP Substitution Missense p.Lys1435Arg - - - - COL3A1_00209
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Legend: [ COL3A1 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. 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. Frequency: Frequency if variant is non pathogenic. COL3A1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.

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