Original source

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

Alleles
A/G|Ancestral: A|Ambiguity code: R
Location

Chromosome 1:45014996 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM961407

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 4804

HGVS names

This variant has 7 HGVS names - Hide

1:g.45014996A>G
ENST00000472254.1:n.685A>G
ENST00000466193.1:n.458A>G
ENST00000465678.1:n.347A>G
ENST00000494399.5:n.1599A>G
ENST00000246337.8:c.932A>G
ENSP00000246337.4:p.Tyr311Cys

About this variant

This variant overlaps 22 transcripts and is associated with 2 phenotypes.

Variant displays