Original source

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

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

Chromosome 8:100832259 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM041280

Most severe consequence
Evidence status

Clinical significance

This variation has 2 synonyms - click the plus to show

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

8:g.100832259A>G
ENST00000358544.2:c.8978A>G
ENSP00000351346.2:p.Asn2993Ser
ENST00000395996.1:c.*4761A>G
ENST00000357162.2:c.8903A>G
ENSP00000349685.2:p.Asn2968Ser

Genotyping chips

This variation has assays on: Illumina_ExomeChip

Variation displays