ClinVar

NM_000534.5(PMS1):c.793C>T (p.Arg265Ter)

Gene:

PMS1:PMS1 homolog 1, mismatch repair system component [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q32.2

Genomic location:

• Chr2: 189852748 (on Assembly GRCh38)
• Chr2: 190717474 (on Assembly GRCh37)

Preferred name:

NM_000534.5(PMS1):c.793C>T (p.Arg265Ter)

HGVS:

• NC_000002.12:g.189852748C>T
• NG_008648.1:g.73664C>T
• NM_000534.5:c.793C>TMANE SELECT
• NM_001128143.2:c.676C>T
• NM_001128144.2:c.793C>T
• NM_001289408.2:c.265C>T
• NM_001289409.2:c.265C>T
• NM_001321044.2:c.676C>T
• NM_001321045.2:c.793C>T
• NM_001321046.2:c.610C>T
• NM_001321047.2:c.793C>T
• NM_001321048.2:c.793C>T
• NP_000525.1:p.Arg265Ter
• NP_000525.1:p.Arg265Ter
• NP_001121615.1:p.Arg226Ter
• NP_001121616.1:p.Arg265Ter
• NP_001276337.1:p.Arg89Ter
• NP_001276338.1:p.Arg89Ter
• NP_001307973.1:p.Arg226Ter
• NP_001307974.1:p.Arg265Ter
• NP_001307975.1:p.Arg204Ter
• NP_001307976.1:p.Arg265Ter
• NP_001307977.1:p.Arg265Ter
• LRG_221t1:c.793C>T
• LRG_221:g.73664C>T
• LRG_221p1:p.Arg265Ter
• NC_000002.11:g.190717474C>T
• NM_000534.4:c.793C>T
• NR_110332.2:n.937C>T

This HGVS expression did not pass validation

Protein change:

R204*

Molecular consequence:

• NR_110332.2:n.937C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000534.5:c.793C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001128143.2:c.676C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001128144.2:c.793C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001289408.2:c.265C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001289409.2:c.265C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001321044.2:c.676C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001321045.2:c.793C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001321046.2:c.610C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001321047.2:c.793C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001321048.2:c.793C>T - nonsense - [Sequence Ontology: SO:0001587]