Original source

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

Alleles
T/A|Ancestral: T|Ambiguity code: W
Location

Chromosome 1:97079133 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM952133

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 17483

HGVS names

This variant has 6 HGVS names - Hide

1:g.97079133T>A
ENST00000370192.7:c.2921A>T
ENSP00000359211.3:p.Asp974Val
LRG_722:g.846927A>T
LRG_722t1:c.2921A>T
LRG_722p1:p.Asp974Val

About this variant

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

Variant displays