This variant has been flagged

Variation has more than 3 different alleles

Original source

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

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

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

Co-located

with HGMD-PUBLIC CM003476

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

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

This variant has 12 HGVS names - click the plus to show

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

Variant allele G
6:g.73641810T>G
ENST00000355773.5:c.406A>C
ENSP00000348019.5:p.Lys136Gln
ENST00000481996.1:n.172A>C

Genotyping chips

This variant has assays on: HumanCoreExome-12

About this variant

This variant overlaps 6 transcripts, has 2504 sample genotypes, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays