Original source

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

Alleles
T/C | Ancestral: T | Ambiguity code: Y | MAF: < 0.01 (C)
Location

Chromosome 8:96144660 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM0910797

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

This variant has 6 HGVS names - click the plus to show

8:g.96144660T>C
ENST00000287020.6:c.1271A>G
ENSP00000287020.4:p.Lys424Arg
ENST00000620978.1:c.811A>G
ENSP00000480170.1:p.Asn271Asp
ENST00000621429.1:c.1020A>G

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 3 phenotypes.

Variant displays