Original source

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

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

Chromosome 10:71812822 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM050001

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 13254

HGVS names

This variant has 20 HGVS names - Hide

Variant allele T
10:g.71812822C>T
ENST00000619887.4:c.2845C>T
ENSP00000478374.1:p.Arg949Trp
ENST00000622827.4:c.9565C>T
ENSP00000483211.1:p.Arg3189Trp
ENST00000398788.4:c.2845C>T
ENSP00000381768.3:p.Arg949Trp
ENST00000224721.10:c.9580C>T
ENSP00000224721.8:p.Arg3194Trp
ENST00000475158.1:n.3101C>T

Variant allele G
10:g.71812822C>G
ENST00000619887.4:c.2845C>G
ENSP00000478374.1:p.Arg949Gly
ENST00000622827.4:c.9565C>G
ENSP00000483211.1:p.Arg3189Gly
ENST00000398788.4:c.2845C>G
ENSP00000381768.3:p.Arg949Gly
ENST00000224721.10:c.9580C>G
ENSP00000224721.8:p.Arg3194Gly
ENST00000475158.1:n.3101C>G

About this variant

This variant overlaps 16 transcripts and is associated with 3 phenotypes.

Variant displays