Original source

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

Alleles
A/C | Ancestral: A | Ambiguity code: M
Location

Chromosome 11:17387916 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM091515, CM040761

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 5 synonyms - click the plus to show

This variant has 7 HGVS names - click the plus to show

11:g.17387916A>C
ENST00000528992.1:c.193T>G
ENSP00000436479.1:p.Val65Gly
ENST00000526912.1:c.-16-70T>G
ENST00000528731.1:c.-16-70T>G
ENST00000339994.4:c.176T>G
ENSP00000345708.4:p.Val59Gly

About this variant

This variant overlaps 10 transcripts, is associated with 3 phenotypes and is mentioned in 3 citations.

Variant displays