Original source

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

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

Chromosome 16:50699481 (forward strand) | View in location tab


with HGMD-PUBLIC CS061257

Most severe consequence
Splice region variant
Evidence status

Clinical significance


Infevers 194

HGVS names

This variant has 16 HGVS names - Show

About this variant

This variant overlaps 12 transcripts, 1 regulatory feature, has 2504 sample genotypes, is associated with 1 phenotype and is mentioned in 1 citation.

Variant displays