Original source

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

Alleles
A/T|Ancestral: A|Ambiguity code: W|MAF: < 0.01 (T)
Location

Chromosome 3:165829962 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM950134

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 9 HGVS names - Hide

3:g.165829962A>T
ENST00000482958.1:c.1072T>A
ENSP00000419804.1:p.Leu358Ile
ENST00000264381.7:c.1072T>A
ENSP00000264381.3:p.Leu358Ile
ENST00000479451.5:c.107+7352T>A
ENST00000488954.1:c.107+7352T>A
ENST00000497011.5:c.1072T>A
ENSP00000419505.1:p.Leu358Ile

About this variant

This variant overlaps 5 transcripts, has 2504 sample genotypes and is associated with 3 phenotypes.

Variant displays