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 3:57198246 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM010055

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 10618, 2010_April_001_118_HESX1_601802_0002

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

3:g.57198246G>A
ENST00000473921.2:c.407C>T
ENSP00000418918.1:p.Ser136Leu
ENST00000295934.6:c.509C>T
ENSP00000295934.3:p.Ser170Leu

Genotyping chips

This variation has assays on: HumanCoreExome-12

About this variant

This variant overlaps 3 transcripts, has 2504 individual genotypes and is associated with 2 phenotypes.

Variation displays