Unique variants in gene COL11A1

Information The variants shown are described using the NM_080630.3 transcript reference sequence.

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

Reported     

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     
./. 1 c.2579G>T p.(Gly860Val) - - - - r.(?) - - g.103428306C>A - - - COL11A1_000002 - - ; clinvar; - - - LOVD
./. 1 c.4255T>C p.(Ser1419Pro) - - - - r.(?) - - g.103354138A>G - - - COL11A1_000001 - - ; clinvar; - - - LOVD
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