Original source

Variants (including SNPs and indels) imported from dbSNP (release 138) | View in dbSNP

Alleles
G/A | Ancestral: G | Ambiguity code: R
Location

Chromosome 4:996535 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM920372

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 6442

This variation has 9 HGVS names - click the plus to show

4:g.996535G>A
ENST00000514224.1:c.809G>A
ENSP00000425081.1:p.Trp270Ter
ENST00000514698.1:n.1312G>A
ENST00000453894.1:c.1271G>A
ENSP00000396458.1:p.Trp424Ter
ENST00000247933.4:c.1205G>A
ENSP00000247933.4:p.Trp402Ter
ENST00000502829.1:n.7G>A

Genotyping chips

This variation has assays on: Illumina_ExomeChip

Variation displays