ClinVar

NM_005154.5(USP8):c.3334C>T (p.Arg1112Ter)

Genes:

USP50:ubiquitin specific peptidase 50 [Gene - OMIM - HGNC]
USP8:ubiquitin specific peptidase 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q21.2

Genomic location:

• Chr15: 50499065 (on Assembly GRCh38)
• Chr15: 50791262 (on Assembly GRCh37)

Preferred name:

NM_005154.5(USP8):c.3334C>T (p.Arg1112Ter)

HGVS:

• NC_000015.10:g.50499065C>T
• NG_047101.1:g.79689C>T
• NM_001128610.3:c.3334C>T
• NM_001283049.2:c.3016C>T
• NM_005154.5:c.3334C>TMANE SELECT
• NP_001122082.1:p.Arg1112Ter
• NP_001269978.1:p.Arg1006Ter
• NP_005145.3:p.Arg1112Ter
• NC_000015.9:g.50791262C>T
• NM_005154.4:c.3334C>T

This HGVS expression did not pass validation

Protein change:

R1006*

Links:

dbSNP: rs142928952

NCBI 1000 Genomes Browser:

rs142928952

Molecular consequence:

• NM_001128610.3:c.3334C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001283049.2:c.3016C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_005154.5:c.3334C>T - nonsense - [Sequence Ontology: SO:0001587]