Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

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

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

Co-located variants

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

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 10 HGVS names - Hide

1:g.235766204A>T
ENST00000489585.5:n.6512+35T>A
ENST00000389793.6:c.5996T>A
ENSP00000374443.2:p.Val1999Asp
ENST00000389794.7:c.*1420T>A
LRG_143:g.122437T>A
LRG_143t2:c.5996T>A
LRG_143p2:p.Val1999Asp
LRG_143t1:c.5996T>A
LRG_143p1:p.Val1999Asp

About this variant

This variant overlaps 5 transcripts and is associated with 4 phenotypes.

Variant displays