Original source

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

Alleles
C/A/T|Ancestral: C|Ambiguity code: H
Location

Chromosome 11:17387490 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM040764, CM055966

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 8 synonyms - Show

HGVS names

This variant has 14 HGVS names - Hide

Variant allele A
11:g.17387490C>A
ENST00000526912.1:c.341G>T
ENSP00000432729.1:p.Arg114Leu
ENST00000528731.1:c.341G>T
ENSP00000434755.1:p.Arg114Leu
ENST00000339994.4:c.602G>T
ENSP00000345708.4:p.Arg201Leu

Variant allele T
11:g.17387490C>T
ENST00000526912.1:c.341G>A
ENSP00000432729.1:p.Arg114His
ENST00000528731.1:c.341G>A
ENSP00000434755.1:p.Arg114His
ENST00000339994.4:c.602G>A
ENSP00000345708.4:p.Arg201His

About this variant

This variant overlaps 12 transcripts, is associated with 6 phenotypes and is mentioned in 6 citations.

Variant displays