View all transcript variants in gene COL6A3

Information The variants shown are described using the NM_004369.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
+?/+? c.3191G>A p.(Arg1064Gln) missense_variant - 8/44 possibly_damaging(0.49) r.(?) - subst g.238283543C>T - 4.440 - COL6A3_000001 rs112638391 - ; clinvar; 23757202 - - LOVD
-/- c.4184G>A p.(Arg1395Gln) missense_variant - 9/44 possibly_damaging(0.692) r.(?) - subst g.238280476C>T - 4.770 - COL6A3_000002 rs80272723 - ; clinvar; 23757202 - - LOVD
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