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 8:99820031 (forward strand) | View in location tab

Co-located

with COSMIC COSM3698729 (A/G), COSM3698730 (A/G) ; HGMD-PUBLIC CM041280

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

This variant has 10 HGVS names - click the plus to show

8:g.99820031A>G
ENST00000358544.6:c.8978A>G
ENSP00000351346.2:p.Asn2993Ser
ENST00000357162.6:c.8903A>G
ENSP00000349685.2:p.Asn2968Ser
LRG_351:g.811766A>G
LRG_351t2:c.8903A>G
LRG_351p2:p.Asn2968Ser
LRG_351t1:c.8978A>G
LRG_351p1:p.Asn2993Ser

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 4 transcripts, has 2504 sample genotypes and is associated with 4 phenotypes.

Variant displays