Original source

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

Alleles
T/A | Ancestral: T | Ambiguity code: W | MAF: < 0.01 (A)
Location

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

Co-located

with HGMD-PUBLIC CS061257

Most severe consequence
 
Splice region variant
Evidence status

Clinical significance

Synonyms

Infevers 194

This variant has 8 HGVS names - click the plus to show

About this variant

This variant overlaps 6 transcripts, 1 regulatory feature, has 2504 sample genotypes, is associated with 1 phenotype and is mentioned in 1 citation.

Variant displays