Original source

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

Alleles
C/A | Ancestral: C | Ambiguity code: M | MAF: < 0.01 (A)
Location

Chromosome 16:3243257 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM981246

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.3243257C>A
ENST00000621655.1:c.*531G>T
ENST00000538326.5:c.*855G>T
ENST00000576315.5:c.*747G>T
ENST00000219596.5:c.2230G>T
ENSP00000219596.1:p.Ala744Ser
ENST00000536980.5:c.*506G>T
ENST00000339854.8:c.1690G>T
ENSP00000339639.4:p.Ala564Ser
ENST00000536379.5:c.1597G>T
ENSP00000445079.1:p.Ala533Ser
ENST00000570511.5:c.*714G>T
ENST00000541159.5:c.*434G>T
ENST00000574583.5:c.*714G>T
ENST00000542898.5:c.*506G>T
ENST00000572244.5:c.*614G>T
ENST00000537682.5:c.*506G>T
ENST00000539145.5:c.*863G>T
LRG_190:g.18371G>T
LRG_190t1:c.2230G>T
LRG_190p1:p.Ala744Ser

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 2 phenotypes and is mentioned in 6 citations.

Variant displays