Original source

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

Alleles
A/T | Ancestral: A | Ambiguity code: W
Location

Chromosome 1:235766204 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM021560 ; PhenCode LYSTbase_D0020:g.101722T>A (A/T)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

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

1:g.235766204A>T
ENST00000489585.5:n.6512+35T>A
ENST00000389794.7:c.*1420T>A
ENST00000389793.6:c.5996T>A
ENSP00000374443.2:p.Val1999Asp

About this variant

This variant overlaps 3 transcripts and is associated with 4 phenotypes.

Variant displays