Original source

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

Alleles
A/G|Ancestral: A|Ambiguity code: R
Location

Chromosome 11:17387968 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM051548

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 5 synonyms - Show

HGVS names

This variant has 7 HGVS names - Hide

11:g.17387968A>G
ENST00000526912.1:c.-17+50T>C
ENST00000528992.1:c.141T>C
ENSP00000436479.1:p.Cys48Arg
ENST00000528731.1:c.-16-122T>C
ENST00000339994.4:c.124T>C
ENSP00000345708.4:p.Cys42Arg

About this variant

This variant overlaps 10 transcripts, is associated with 4 phenotypes and is mentioned in 1 citation.

Variant displays