All transcript variants in gene ARHGEF9

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

1 entry on 1 page. Showing entry 1.
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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.164G>C p.(Gly55Ala) missense_variant - 2/10 possibly_damaging(0.893) r.(?) tolerated(0.38) subst g.62944437C>G - 5.550 - ARHGEF9_000002 rs121918361 - ; clinvar; 15215304 - - LOVD
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