Original source

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

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

Chromosome 1:169530805 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM001987

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 17290

HGVS names

This variant has 8 HGVS names - Hide

1:g.169530805T>C
ENST00000367796.3:c.5204A>G
ENSP00000356770.3:p.Tyr1735Cys
ENST00000367797.7:c.5189A>G
ENSP00000356771.3:p.Tyr1730Cys
LRG_553:g.60727A>G
LRG_553t1:c.5189A>G
LRG_553p1:p.Tyr1730Cys

About this variant

This variant overlaps 3 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays