ClinVar

NM_005802.5(TOPORS):c.2314C>T (p.Leu772=)

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: 32542211 (on Assembly GRCh38)
• Chr9: 32542209 (on Assembly GRCh37)

Preferred name:

NM_005802.5(TOPORS):c.2314C>T (p.Leu772=)

HGVS:

• NC_000009.12:g.32542211G>A
• NG_017050.1:g.15414C>T
• NM_001195622.2:c.2119C>T
• NM_005802.5:c.2314C>TMANE SELECT
• NP_001182551.1:p.Leu707=
• NP_005793.2:p.Leu772=
• NC_000009.11:g.32542209G>A
• NM_005802.4:c.2314C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs371017482

NCBI 1000 Genomes Browser:

rs371017482

Molecular consequence:

• NM_001195622.2:c.2119C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_005802.5:c.2314C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1