ClinVar

NM_002786.4(PSMA1):c.7C>T (p.Arg3Ter)

Gene:

PSMA1:proteasome 20S subunit alpha 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.2

Genomic location:

• Chr11: 14519038 (on Assembly GRCh38)
• Chr11: 14540584 (on Assembly GRCh37)

Preferred name:

NM_002786.4(PSMA1):c.7C>T (p.Arg3Ter)

HGVS:

• NC_000011.10:g.14519038G>A
• NM_001143937.2:c.7C>T
• NM_002786.4:c.7C>TMANE SELECT
• NM_148976.3:c.25C>T
• NP_001137409.1:p.Arg3Ter
• NP_002777.1:p.Arg3Ter
• NP_683877.1:p.Arg9Ter
• NC_000011.9:g.14540584G>A
• NM_002786.3:c.7C>T

This HGVS expression did not pass validation

Protein change:

R3*

Links:

dbSNP: rs2062941120

NCBI 1000 Genomes Browser:

rs2062941120

Molecular consequence:

• NM_001143937.2:c.7C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_002786.4:c.7C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_148976.3:c.25C>T - nonsense - [Sequence Ontology: SO:0001587]