Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
T/C/G|Ancestral: T|Ambiguity code: B
Location

Chromosome 6:10404509 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM102900, CM085950

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NM_003220.2:c.763A>G, 444

HGVS names

This variant has 42 HGVS names - Hide

Variant allele C
6:g.10404509T>C
ENST00000498450.1:c.334A>G
ENSP00000419961.1:p.Arg112Gly
ENST00000461628.5:c.86A>G
ENSP00000417735.1:p.Arg30Gly
ENST00000478375.5:n.763A>G
ENST00000379613.7:c.769A>G
ENSP00000368933.3:p.Arg257Gly
ENST00000488193.5:c.*260A>G
ENST00000489805.5:c.*260A>G
ENST00000497266.5:n.734A>G
ENST00000482890.5:c.763A>G
ENSP00000418541.1:p.Arg255Gly
ENST00000475264.5:c.477A>G
ENSP00000419696.1:p.Arg160Gly
ENST00000379608.7:c.745A>G
ENSP00000368928.3:p.Arg249Gly
ENST00000466073.5:c.763A>G
ENSP00000417495.1:p.Arg255Gly
ENST00000319516.8:c.751A>G
ENSP00000316516.4:p.Arg251Gly

Variant allele G
6:g.10404509T>G
ENST00000498450.1:c.334A>C
ENST00000498450.1:c.334A>C(p.=)
ENST00000461628.5:c.86A>C
ENST00000461628.5:c.86A>C(p.=)
ENST00000478375.5:n.763A>C
ENST00000379613.7:c.769A>C
ENST00000379613.7:c.769A>C(p.=)
ENST00000488193.5:c.*260A>C
ENST00000489805.5:c.*260A>C
ENST00000497266.5:n.734A>C
ENST00000482890.5:c.763A>C
ENST00000482890.5:c.763A>C(p.=)
ENST00000475264.5:c.477A>C
ENST00000475264.5:c.477A>C(p.=)
ENST00000379608.7:c.745A>C
ENST00000379608.7:c.745A>C(p.=)
ENST00000466073.5:c.763A>C
ENST00000466073.5:c.763A>C(p.=)
ENST00000319516.8:c.751A>C
ENST00000319516.8:c.751A>C(p.=)

About this variant

This variant overlaps 36 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays