Original source

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

Alleles
A/C|Ancestral: A|Ambiguity code: M
Location

Chromosome 12:40309225 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM107057

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NM_198578.3:c.4309A>C

HGVS names

This variant has 5 HGVS names - Show

About this variant

This variant overlaps 5 transcripts, is associated with 1 phenotype and is mentioned in 1 citation.

Variant displays