Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y
Location

Chromosome 1:173904044 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM880010, CD994760

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 354

This variant has 5 HGVS names - click the plus to show

1:g.173904044C>T
ENST00000367698.3:c.1240G>A
ENSP00000356671.3:p.Ala414Thr
ENST00000617423.4:c.625G>A
ENSP00000478688.1:p.Ala209Thr

About this variant

This variant overlaps 3 transcripts and is associated with 2 phenotypes.

Variant displays