Unique variants in gene COL5A3

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

21 entries on 1 page. Showing entries 1 - 21.
Legend  

Effect     

Reported     

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     
-/. 1 - c.453C>A benign r.(?) p.(=) g.10116375G>T - COL5A3(NM_015719.3):c.453C>A (p.=) - COL5A3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.676A>T benign r.(?) p.(Asn226Tyr) g.10114740T>A - COL5A3(NM_015719.3):c.676A>T (p.N226Y) - COL5A3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.838G>C benign r.(?) p.(Ala280Pro) g.10114252C>G - COL5A3(NM_015719.3):c.838G>C (p.A280P) - COL5A3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.964A>G benign r.(?) p.(Arg322Gly) g.10112346T>C - COL5A3(NM_015719.3):c.964A>G (p.R322G) - COL5A3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1159-13C>T benign r.(=) p.(=) g.10108714G>A - COL5A3(NM_015719.3):c.1159-13C>T - chr19_003359 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1425C>G benign r.(?) p.(=) g.10106936G>C - COL5A3(NM_015719.3):c.1425C>G (p.=) - COL5A3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1893+4T>C benign r.spl? p.? g.10102676A>G - COL5A3(NM_015719.3):c.1893+4T>C - COL5A3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.2047-19G>T benign r.(=) p.(=) g.10100061C>A - COL5A3(NM_015719.3):c.2047-19G>T - COL5A3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.2146-11_2146-10dup benign r.(=) p.(=) g.10097453_10097454dup - COL5A3(NM_015719.3):c.2146-10_2146-9insTT - chr19_003358 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.2146-10del benign r.(=) p.(=) g.10097454del - COL5A3(NM_015719.3):c.2146-10delT - COL5A3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2506-7dup likely benign r.(=) p.(=) g.10091551dup - COL5A3(NM_015719.3):c.2506-7_2506-6insT - chr19_003356 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2807C>T VUS r.(?) p.(Pro936Leu) g.10089875G>A - COL5A3(NM_015719.3):c.2807C>T (p.(Pro936Leu)) - COL5A3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.3006C>T benign r.(?) p.(=) g.10089262G>A - COL5A3(NM_015719.3):c.3006C>T (p.=) - COL5A3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.3125G>C benign r.(?) p.(Arg1042Pro) g.10088271C>G - COL5A3(NM_015719.3):c.3125G>C (p.R1042P) - COL5A3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.3373C>T benign r.(?) p.(Pro1125Ser) g.10085054G>A - COL5A3(NM_015719.3):c.3373C>T (p.P1125S) - chr19_003355 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.3515del VUS r.(?) p.(Gly1172Glufs*96) g.10084639del - COL5A3(NM_015719.3):c.3515delG (p.(Gly1172GlufsTer96)) - chr19_003354 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.3558G>A likely benign r.(?) p.(=) g.10084595C>T - COL5A3(NM_015719.3):c.3558G>A (p.(=)) - chr19_003353 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.3612+10G>A benign r.(=) p.(=) g.10084422C>T - COL5A3(NM_015719.3):c.3612+10G>A - COL5A3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.3620G>C benign r.(?) p.(Arg1207Pro) g.10084292C>G - COL5A3(NM_015719.3):c.3620G>C (p.R1207P) - COL5A3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.4282G>A benign r.(?) p.(Val1428Met) g.10079093C>T - COL5A3(NM_015719.3):c.4282G>A (p.V1428M) - COL5A3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.4462G>C benign r.(?) p.(Ala1488Pro) g.10077419C>G - COL5A3(NM_015719.3):c.4462G>C (p.A1488P) - COL5A3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
Legend