Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y
Location

Chromosome 11:2167905 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM981919

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 5949, NM_199292.2:c.698G>A

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

11:g.2167905C>T
ENST00000352909.7:c.605G>A
ENSP00000325951.3:p.Arg202His
ENST00000324155.8:c.*294G>A
ENST00000381178.5:c.698G>A
ENSP00000370571.1:p.Arg233His
ENST00000469226.1:n.354G>A
ENST00000333684.9:c.605G>A
ENSP00000328814.6:p.Arg202His
ENST00000381168.7:c.*294G>A
ENST00000416223.5:c.45G>A
ENSP00000403440.1:p.Arg16His
ENST00000412076.1:c.45G>A
ENSP00000403546.1:p.Arg16His
ENST00000381175.5:c.686G>A
ENSP00000370567.1:p.Arg229His

About this variant

This variant overlaps 11 transcripts, is associated with 2 phenotypes and is mentioned in 4 citations.

Variant displays