Most severe consequence
 
Inframe deletion
Alleles
ATC/-|Highest population MAF: < 0.01
Location

Chromosome 7:117559590-117559592 (forward strand)|View in location tab

Evidence status

Clinical significance

HGVS names

This variant has 10 HGVS names - Show

Variant with equivalent alleles
Synonyms

This variant has 6 synonyms - Show

Original source

Variants (including SNPs and indels) imported from dbSNP (release 149)|View in dbSNP

About this variant

This variant overlaps 5 transcripts, 1 regulatory feature, is associated with 4 phenotypes and is mentioned in 2 citations.

Description from SNPedia

Cystic fibrosis; c.1519_1521delATC, p.Ile507del

Variant displays