Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

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

Chromosome 6:73641810 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM003476

Most severe consequence
 
Stop gained
Evidence status

Synonyms

LSDB NM_012434.4:c.406A>G, 12599

HGVS names

This variant has 8 HGVS names - Hide

Variant allele A
6:g.73641810T>A
ENST00000355773.5:c.406A>T
ENSP00000348019.5:p.Lys136Ter
ENST00000481996.1:n.172A>T

Variant allele C
6:g.73641810T>C
ENST00000355773.5:c.406A>G
ENSP00000348019.5:p.Lys136Glu
ENST00000481996.1:n.172A>G

Genotyping chips

This variant has assays on: HumanCoreExome-12

About this variant

This variant overlaps 4 transcripts, has 2504 sample genotypes, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays