Original source

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

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

Chromosome 11:67487041 (forward strand) | View in location tab

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB NM_003977.2:c.135C>T

HGVS names

This variant has 18 HGVS names - Show

About this variant

This variant overlaps 20 transcripts, has 2504 sample genotypes and is associated with 1 phenotype.

Variant displays