Original source

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

Alleles
C/G | Ancestral: C | Ambiguity code: S
Location

Chromosome 16:3254567 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM981241

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

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

16:g.3254567C>G
ENST00000621655.1:c.277+1744G>C
ENST00000538326.5:c.501G>C
ENSP00000437486.1:p.Glu167Asp
ENST00000219596.5:c.501G>C
ENSP00000219596.1:p.Glu167Asp
ENST00000576315.5:c.277+1744G>C
ENST00000536980.5:c.277+1744G>C
ENST00000536379.5:c.277+1744G>C
ENST00000339854.8:c.277+1744G>C
ENST00000541159.5:c.277+1744G>C
ENST00000570511.5:c.501G>C
ENSP00000458312.1:p.Glu167Asp
ENST00000574583.5:c.277+1744G>C
ENST00000542898.5:c.501G>C
ENSP00000444615.1:p.Glu167Asp
ENST00000572244.5:c.277+1744G>C
ENST00000537682.5:c.501G>C
ENSP00000438611.1:p.Glu167Asp
ENST00000539145.5:c.277+1744G>C
LRG_190:g.7061G>C
LRG_190t1:c.501G>C
LRG_190p1:p.Glu167Asp

About this variant

This variant overlaps 15 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays