Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R | MAF: < 0.01 (A)
Location

Chromosome 4:186208973 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM056577

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB NM_207352.3:c.1199G>A

This variation has 6 HGVS names - click the plus to show

About this variant

This variant overlaps 5 transcripts, has 2504 individual genotypes and is associated with 1 phenotype.

Variation displays