Original source

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

Alleles
C/A/T|Ancestral: C|Ambiguity code: H|MAF: < 0.01 (A)
Location

Chromosome 11:17387190 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM051095, CM088145

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 9668

HGVS names

This variant has 10 HGVS names - Hide

Variant allele A
11:g.17387190C>A
ENST00000528731.1:c.641G>T
ENSP00000434755.1:p.Arg214Leu
ENST00000339994.4:c.902G>T
ENSP00000345708.4:p.Arg301Leu

Variant allele T
11:g.17387190C>T
ENST00000528731.1:c.641G>A
ENSP00000434755.1:p.Arg214His
ENST00000339994.4:c.902G>A
ENSP00000345708.4:p.Arg301His

About this variant

This variant overlaps 12 transcripts, 1 regulatory feature, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays