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 1:40819459 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM001721

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 8 HGVS names - Hide

1:g.40819459T>A
ENST00000509682.6:c.821T>A
ENSP00000423756.2:p.Leu274His
ENST00000443478.3:c.507T>A
ENSP00000406735.3:p.Leu170His
ENST00000506017.1:n.140T>A
ENST00000347132.9:c.821T>A
ENSP00000262916.6:p.Leu274His

About this variant

This variant overlaps 4 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays