Original source

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

Alleles
G/C|Ancestral: G|Ambiguity code: S
Location

Chromosome 6:18122402 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM118948, CM033789

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

6:g.18122402G>C
ENST00000340650.4:c.205C>G
ENSP00000345464.3:p.Pro69Ala

About this variant

This variant overlaps 1 transcript, 1 regulatory feature and is associated with 4 phenotypes.

Variant displays