Original source

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

Alleles
A/G|Ancestral: A|Ambiguity code: R
Location

Chromosome 7:143320744 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM032878

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 3 HGVS names - Hide

7:g.143320744A>G
ENST00000343257.6:c.382A>G
ENSP00000339867.2:p.Met128Val

About this variant

This variant overlaps 4 transcripts, is associated with 3 phenotypes and is mentioned in 1 citation.

Variant displays