Original source

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

Alleles
CT/-
Location

Chromosome 1:173909737-173909738 (forward strand)|View in location tab

Most severe consequence
 
Frameshift variant
Evidence status

Clinical significance

Synonyms

LSDB 363

HGVS names

This variant has 8 HGVS names - Hide

1:g.173909737_173909738delCT
ENST00000487183.1:n.618_619delAG
ENST00000367698.3:c.967_968delAG
ENSP00000356671.3:p.Ser323ProfsTer19
ENST00000617423.4:c.559+2126_559+2127delAG
LRG_577:g.12641_12642delAG
LRG_577t1:c.967_968delAG
LRG_577p1:p.Ser323ProfsTer19

About this variant

This variant overlaps 5 transcripts and is associated with 2 phenotypes.

Variant displays