Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y
Location

Chromosome 4:154589541 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM921008

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 1923

HGVS names

This variant has 12 HGVS names - Hide

4:g.154589541C>T
ENST00000302053.7:c.76G>A
ENSP00000306361.3:p.Asp26Asn
ENST00000403106.7:c.76G>A
ENSP00000385981.3:p.Asp26Asn
ENST00000622532.1:c.76G>A
ENSP00000478487.1:p.Asp26Asn
LRG_557:g.6205G>A
LRG_557t1:c.76G>A
LRG_557p1:p.Asp26Asn
LRG_557t2:c.76G>A
LRG_557p2:p.Asp26Asn

About this variant

This variant overlaps 5 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays