Original source

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

Alleles
C/G | Ancestral: C | Ambiguity code: S | MAF: 0.13 (G)
Location

Chromosome 16:3254626 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM981240

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 5 synonyms - click the plus to show

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

16:g.3254626C>G
ENST00000621655.1:c.277+1685G>C
ENST00000538326.5:c.442G>C
ENSP00000437486.1:p.Glu148Gln
ENST00000576315.5:c.277+1685G>C
ENST00000219596.5:c.442G>C
ENSP00000219596.1:p.Glu148Gln
ENST00000536980.5:c.277+1685G>C
ENST00000536379.5:c.277+1685G>C
ENST00000339854.8:c.277+1685G>C
ENST00000570511.5:c.442G>C
ENSP00000458312.1:p.Glu148Gln
ENST00000541159.5:c.277+1685G>C
ENST00000574583.5:c.277+1685G>C
ENST00000542898.5:c.442G>C
ENSP00000444615.1:p.Glu148Gln
ENST00000572244.5:c.277+1685G>C
ENST00000537682.5:c.442G>C
ENSP00000438611.1:p.Glu148Gln
ENST00000539145.5:c.277+1685G>C
LRG_190:g.7002G>C
LRG_190t1:c.442G>C
LRG_190p1:p.Glu148Gln

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_HumanOmni1-Quad, Illumina_ExomeChip

About this variant

This variant overlaps 15 transcripts, has 2551 sample genotypes, is associated with 6 phenotypes and is mentioned in 8 citations.

Variant displays