Most severe consequence
 
Missense variant
Alleles
C/T|Ancestral: C|Highest population MAF: < 0.01
Location

Chromosome 7:130402686 (forward strand)|View in location tab

Co-located variants

COSMIC COSM1448065 ; HGMD-PUBLIC CM120755

Evidence status

Clinical significance

HGVS names

This variant has 21 HGVS names - Show

Synonyms

This variant has 3 synonyms - Show

Original source

Variants (including SNPs and indels) imported from dbSNP (release 149)|View in dbSNP

About this variant

This variant overlaps 12 transcripts and is associated with 2 phenotypes.

Description from SNPedia

Description not available [More information from SNPedia]

Variant displays