Original source

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

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

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

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

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