All transcript variants in gene COL5A3

Information The variants shown are described using the NM_015719.3 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/. - c.453C>A benign r.(=) p.(=) g.10116375G>T - COL5A3:c.453C>A (=) - COL5A3_000015 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.676A>T benign r.(?) p.(Asn226Tyr) g.10114740T>A - COL5A3:c.676A>T (N226Y) - COL5A3_000014 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.838G>C benign r.(?) p.(Ala280Pro) g.10114252C>G - COL5A3:c.838G>C (A280P) - COL5A3_000013 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.964A>G benign r.(?) p.(Arg322Gly) g.10112346T>C - COL5A3:c.964A>G (R322G) - COL5A3_000012 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.1893+4T>C benign r.spl? p.? g.10102676A>G - COL5A3:c.1893+4T>C - COL5A3_000010 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.2047-19G>T benign r.(=) p.(=) g.10100061C>A - COL5A3:c.2047-19G>T - COL5A3_000009 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.2146-10del benign r.(=) p.(=) g.10097444del - COL5A3:c.2146-10delT - COL5A3_000016 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.2146-8_2146-7dup benign r.spl? p.? g.10097441_10097442dup - COL5A3:c.2146-10_2146-9insTT - COL5A3_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.2807C>T likely benign r.(?) p.(Pro936Leu) g.10089875G>A - COL5A3:NM_015719.3:c.2807C>T - COL5A3_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.3006C>T benign r.(=) p.(=) g.10089262G>A - COL5A3:c.3006C>T (=) - COL5A3_000006 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.3125G>C benign r.(?) p.(Arg1042Pro) g.10088271C>G - COL5A3:c.3125G>C (R1042P) - COL5A3_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.3612+10G>A benign r.(=) p.(=) g.10084422C>T - COL5A3:c.3612+10G>A - COL5A3_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.3620G>C benign r.(?) p.(Arg1207Pro) g.10084292C>G - COL5A3:c.3620G>C (R1207P) - COL5A3_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.4282G>A benign r.(?) p.(Val1428Met) g.10079093C>T - COL5A3:c.4282G>A (V1428M) - COL5A3_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.4462G>C benign r.(?) p.(Ala1488Pro) g.10077419C>G - COL5A3:c.4462G>C (A1488P) - COL5A3_000001 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
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