Original source

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

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

Chromosome 16:3243529 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM014209

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 21 HGVS names - Hide

16:g.3243529C>T
ENST00000621655.1:c.*259G>A
ENST00000538326.5:c.*583G>A
ENST00000536980.5:c.*234G>A
ENST00000339854.8:c.1418G>A
ENSP00000339639.4:p.Arg473His
ENST00000541159.5:c.*162G>A
ENST00000570511.5:c.*442G>A
ENST00000574583.5:c.*442G>A
ENST00000572244.5:c.*342G>A
ENST00000537682.5:c.*234G>A
ENST00000576315.5:c.*475G>A
ENST00000219596.5:c.1958G>A
ENSP00000219596.1:p.Arg653His
ENST00000536379.5:c.1325G>A
ENSP00000445079.1:p.Arg442His
ENST00000542898.5:c.*234G>A
ENST00000539145.5:c.*591G>A
LRG_190:g.18099G>A
LRG_190t1:c.1958G>A
LRG_190p1:p.Arg653His

About this variant

This variant overlaps 16 transcripts, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays