Original source

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

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

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

Co-located

with HGMD-PUBLIC CM051095, CM088145

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 9668

This variant has 10 HGVS names - click the plus to show

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

Variant allele G
11:g.17387190C>G
ENST00000528731.1:c.641G>C
ENSP00000434755.1:p.Arg214Pro
ENST00000339994.4:c.902G>C
ENSP00000345708.4:p.Arg301Pro

About this variant

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

Variant displays