Original source

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

Alleles
CATC/-
Location

Chromosome 1:173909681-173909684 (forward strand)|View in location tab

Most severe consequence
 
Frameshift variant
Evidence status

Clinical significance

Synonyms

LSDB 364

HGVS names

This variant has 7 HGVS names - Hide

1:g.173909681_173909684delCATC
ENST00000367698.3:c.1021_1024delGATG
ENSP00000356671.3:p.Asp341AsnfsTer5
ENST00000617423.4:c.559+2180_559+2183delGATG
LRG_577:g.12695_12698delGATG
LRG_577t1:c.1021_1024delGATG
LRG_577p1:p.Asp341AsnfsTer5

About this variant

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

Variant displays