Original source

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

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

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

Co-located

with HGMD-PUBLIC CM107057

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB NM_198578.3:c.4309A>C

This variation has 5 HGVS names - click the plus to show

About this variant

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

Variation displays