Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

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

Co-located

with HGMD-PUBLIC CM033789

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 3 HGVS names - click the plus to show

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 3 phenotypes.

Variant displays