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 1:235788701 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM021558 ; PhenCode LYSTbase_D0020:g.79225G>A (C/T)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NM_000081.2:c.4688G>A, 14324

This variant has 6 HGVS names - click the plus to show

1:g.235788701C>T
ENST00000492844.1:n.148G>A
ENST00000489585.5:n.5239G>A
ENST00000389793.6:c.4688G>A
ENSP00000374443.2:p.Arg1563His
ENST00000389794.7:c.*112G>A

About this variant

This variant overlaps 5 transcripts and is associated with 3 phenotypes.

Variant displays