Original source

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

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

Chromosome 16:3243310 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM970914

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 4 synonyms - click the plus to show

This variant has 21 HGVS names - click the plus to show

16:g.3243310A>G
ENST00000621655.1:c.*478T>C
ENST00000538326.5:c.*802T>C
ENST00000219596.5:c.2177T>C
ENSP00000219596.1:p.Val726Ala
ENST00000576315.5:c.*694T>C
ENST00000536980.5:c.*453T>C
ENST00000536379.5:c.1544T>C
ENSP00000445079.1:p.Val515Ala
ENST00000339854.8:c.1637T>C
ENSP00000339639.4:p.Val546Ala
ENST00000570511.5:c.*661T>C
ENST00000541159.5:c.*381T>C
ENST00000574583.5:c.*661T>C
ENST00000542898.5:c.*453T>C
ENST00000572244.5:c.*561T>C
ENST00000537682.5:c.*453T>C
ENST00000539145.5:c.*810T>C
LRG_190:g.18318T>C
LRG_190t1:c.2177T>C
LRG_190p1:p.Val726Ala

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 16 transcripts, has 2543 sample genotypes, is associated with 3 phenotypes and is mentioned in 7 citations.

Variant displays