Original source

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

Alleles
A/C/G|Ancestral: A|Ambiguity code: V
Location

Chromosome 11:17470119 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM061628, CM072823

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 7 synonyms - Show

HGVS names

This variant has 16 HGVS names - Hide

Variant allele C
11:g.17470119A>C
ENST00000389817.7:c.394T>G
ENSP00000374467.3:p.Phe132Val
ENST00000527905.5:c.394T>G
ENSP00000431653.1:p.Phe132Val
ENST00000532728.5:n.425T>G
ENST00000302539.8:c.394T>G
ENSP00000303960.4:p.Phe132Val

Variant allele G
11:g.17470119A>G
ENST00000389817.7:c.394T>C
ENSP00000374467.3:p.Phe132Leu
ENST00000527905.5:c.394T>C
ENSP00000431653.1:p.Phe132Leu
ENST00000532728.5:n.425T>C
ENST00000302539.8:c.394T>C
ENSP00000303960.4:p.Phe132Leu

About this variant

This variant overlaps 10 transcripts, is associated with 5 phenotypes and is mentioned in 7 citations.

Variant displays