ClinVar

NM_005802.5(TOPORS):c.150G>A (p.Arg50=)

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: 32550822 (on Assembly GRCh38)
• Chr9: 32550820 (on Assembly GRCh37)

Preferred name:

NM_005802.5(TOPORS):c.150G>A (p.Arg50=)

HGVS:

• NC_000009.12:g.32550822C>T
• NG_017050.1:g.6803G>A
• NM_001195622.2:c.3+1612G>A
• NM_005802.5:c.150G>AMANE SELECT
• NP_005793.2:p.Arg50=
• NC_000009.11:g.32550820C>T
• NM_005802.4:c.150G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs200003273

NCBI 1000 Genomes Browser:

rs200003273

Molecular consequence:

• NM_001195622.2:c.3+1612G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_005802.5:c.150G>A - synonymous variant - [Sequence Ontology: SO:0001819]