This variant has been flagged

Variation has more than 3 different alleles

Original source

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

C/A/G/T | Ancestral: C | Ambiguity code: N | MAF: < 0.01 (T)

Chromosome 17:72124177 (forward strand) | View in location tab


with HGMD-PUBLIC CM941298

Most severe consequence
Stop gained
Evidence status

Clinical significance


This variant has 6 synonyms - Show

HGVS names

This variant has 15 HGVS names - Show

About this variant

This variant overlaps 21 transcripts, has 2504 sample genotypes, is associated with 3 phenotypes and is mentioned in 1 citation.

Variant displays