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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22 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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Re-site Hide Re-site column Descending
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Frequency Hide Frequency column Descending
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DB-ID Hide DB-ID column Descending
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07 c.531C>A dbSNP Substitution Silent p.= - - - - COL3A1_00183
12 c.812G>A
  (Reported 3 times)
dbSNP Substitution Missense p.Arg271Gln Arg104Gln - - - COL3A1_00230
15 c.977G>A - Substitution Missense p.(Arg326Gln) Arg159Gln - - - COL3A1_00642
19 c.1257C>T dbSNP Substitution Silent p.= - - - - COL3A1_00184
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 2 times)
dbSNP Substitution Missense p.Pro602Thr Pro435Thr - - - COL3A1_00197
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 2 times)
- Substitution Missense p.Pro668Thr Pro501Thr - - - COL3A1_00136
30 c.2056C>G dbSNP Substitution Missense p.Pro686Ala Pro519Ala - - - COL3A1_00201
31 c.2035G>A dbSNP Substitution Missense p.Ala679Thr Ala512Thr - - - COL3A1_00187
31 c.2092G>A
  (Reported 2 times)
dbSNP Substitution Missense p.Ala698Thr Ala531Thr - - - COL3A1_00137
33 c.2244T>C dbSNP Substitution Silent p.= - - - - COL3A1_00138
42 c.2958C>T dbSNP Substitution Silent p.= - - - - COL3A1_00188
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.3777T>C dbSNP Substitution Silent p.= - - - - COL3A1_00207
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.