Original source

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

Alleles
GA/-
Location

Chromosome 12:101753470-101753471 (forward strand) | View in location tab

Most severe consequence
 
Frameshift variant
Evidence status

Clinical significance

Synonyms

LSDB NM_024312.4:c.3503_3504delTC

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

12:g.101753470_101753471delGA
ENST00000299314.11:c.3503_3504delTC
ENSP00000299314.7:p.Leu1168GlnfsTer5
ENST00000549738.5:c.*110_*111delTC

Genotyping chips

This variant has assays on: HumanCoreExome-12

About this variant

This variant overlaps 4 transcripts, has 16 sample genotypes, is associated with 4 phenotypes and is mentioned in 3 citations.

Variant displays