Original source

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

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

Chromosome 16:3243405 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM970912

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 6 synonyms - Show

HGVS names

This variant has 21 HGVS names - Hide

16:g.3243405C>T
ENST00000621655.1:c.*383G>A
ENST00000538326.5:c.*707G>A
ENST00000576315.5:c.*599G>A
ENST00000219596.5:c.2082G>A
ENSP00000219596.1:p.Met694Ile
ENST00000536980.5:c.*358G>A
ENST00000536379.5:c.1449G>A
ENSP00000445079.1:p.Met483Ile
ENST00000339854.8:c.1542G>A
ENSP00000339639.4:p.Met514Ile
ENST00000570511.5:c.*566G>A
ENST00000541159.5:c.*286G>A
ENST00000574583.5:c.*566G>A
ENST00000542898.5:c.*358G>A
ENST00000572244.5:c.*466G>A
ENST00000537682.5:c.*358G>A
ENST00000539145.5:c.*715G>A
LRG_190:g.18223G>A
LRG_190t1:c.2082G>A
LRG_190p1:p.Met694Ile

About this variant

This variant overlaps 16 transcripts, is associated with 5 phenotypes and is mentioned in 7 citations.

Variant displays