Original source

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

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

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

Co-located

with HGMD-PUBLIC CM061628, CM072823

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 7 synonyms - click the plus to show

This variant has 16 HGVS names - click the plus to show

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