Original source

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

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

Chromosome 11:68406550 (forward strand) | View in location tab


with HGMD-PUBLIC CM053961, CM053295

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB FEVR_36, 11986

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

About this variant

This variant overlaps 8 transcripts, has 2504 sample genotypes, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays