This variant has been flagged

Variation has more than 3 different alleles

Original source

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

C/A/G/T | Ancestral: C | Ambiguity code: N

Chromosome 19:41970405 (forward strand) | View in location tab


with HGMD-PUBLIC CM042308

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB 5381, SCV000053410, NM_152296.3:c.2401G>T

This variant has 33 HGVS names - click the plus to show

About this variant

This variant overlaps 15 transcripts, is associated with 4 phenotypes and is mentioned in 2 citations.

Variant displays