Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R | MAF: < 0.01 (A)
Location

Chromosome 16:3254268 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM981242

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 23 HGVS names - click the plus to show

16:g.3254268G>A
ENST00000621655.1:c.277+2043C>T
ENST00000538326.5:c.800C>T
ENSP00000437486.1:p.Thr267Ile
ENST00000576315.5:c.277+2043C>T
ENST00000219596.5:c.800C>T
ENSP00000219596.1:p.Thr267Ile
ENST00000536980.5:c.277+2043C>T
ENST00000536379.5:c.277+2043C>T
ENST00000339854.8:c.277+2043C>T
ENST00000541159.5:c.277+2043C>T
ENST00000570511.5:c.800C>T
ENSP00000458312.1:p.Thr267Ile
ENST00000574583.5:c.277+2043C>T
ENST00000542898.5:c.800C>T
ENSP00000444615.1:p.Thr267Ile
ENST00000572244.5:c.277+2043C>T
ENST00000537682.5:c.800C>T
ENSP00000438611.1:p.Thr267Ile
ENST00000539145.5:c.277+2043C>T
LRG_190:g.7360C>T
LRG_190t1:c.800C>T
LRG_190p1:p.Thr267Ile

About this variant

This variant overlaps 15 transcripts, has 2504 sample genotypes, is associated with 3 phenotypes and is mentioned in 1 citation.

Variant displays