Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | 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

This variant has 4 HGVS names - click the plus to show

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

About this variant

This variant overlaps 4 transcripts and is associated with 2 phenotypes.

Variant displays