Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y
Location

Chromosome 7:143339290 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM076102, CM950271

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.143339290C>T
ENST00000343257.6:c.1439C>T
ENSP00000339867.2:p.Pro480Leu

About this variant

This variant overlaps 1 transcript, is associated with 3 phenotypes and is mentioned in 3 citations.

Variant displays