Original source

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

Alleles
G/A/T | Ancestral: G | Ambiguity code: D
Location

Chromosome 1:173914726 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM860005, CM930047

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

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

Variant allele A
1:g.173914726G>A
ENST00000494024.1:n.461C>T
ENST00000367698.3:c.235C>T
ENSP00000356671.3:p.Arg79Cys
ENST00000617423.4:c.235C>T
ENSP00000478688.1:p.Arg79Cys

Variant allele T
1:g.173914726G>T
ENST00000494024.1:n.461C>A
ENST00000367698.3:c.235C>A
ENSP00000356671.3:p.Arg79Ser
ENST00000617423.4:c.235C>A
ENSP00000478688.1:p.Arg79Ser

Genotyping chips

This variant has assays on: HumanCoreExome-12

About this variant

This variant overlaps 8 transcripts, 1 regulatory feature and is associated with 4 phenotypes.

Variant displays