ClinVar

NM_005802.5(TOPORS):c.79G>A (p.Gly27Ser)

Gene:

TOPORS:TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9p21.1

Genomic location:

• Chr9: 32550893 (on Assembly GRCh38)
• Chr9: 32550891 (on Assembly GRCh37)

Preferred name:

NM_005802.5(TOPORS):c.79G>A (p.Gly27Ser)

HGVS:

• NC_000009.12:g.32550893C>T
• NG_017050.1:g.6732G>A
• NM_001195622.2:c.3+1541G>A
• NM_005802.5:c.79G>AMANE SELECT
• NP_005793.2:p.Gly27Ser
• NC_000009.11:g.32550891C>T
• NM_005802.4:c.79G>A

This HGVS expression did not pass validation

Protein change:

G27S

Links:

dbSNP: rs765372018

NCBI 1000 Genomes Browser:

rs765372018

Molecular consequence:

• NM_001195622.2:c.3+1541G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_005802.5:c.79G>A - missense variant - [Sequence Ontology: SO:0001583]