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 8:43193824 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM065253

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 16746

HGVS names

This variant has 8 HGVS names - Hide

8:g.43193824T>A
ENST00000520678.1:n.378T>A
ENST00000521576.1:c.596T>A
ENSP00000429029.1:p.Met199Lys
ENST00000379644.8:c.1445T>A
ENSP00000368965.4:p.Met482Lys
ENST00000524016.5:c.549T>A
ENSP00000428322.1:p.Met184Lys

About this variant

This variant overlaps 8 transcripts and is associated with 2 phenotypes.

Variant displays