ClinVar

NM_000535.7(PMS2):c.1119T>A (p.Ser373Arg)

Gene:

PMS2:PMS1 homolog 2, mismatch repair system component [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p22.1

Genomic location:

• Chr7: 5989825 (on Assembly GRCh38)
• Chr7: 6029456 (on Assembly GRCh37)

Preferred name:

NM_000535.7(PMS2):c.1119T>A (p.Ser373Arg)

HGVS:

• NC_000007.14:g.5989825A>T
• NG_008466.1:g.24282T>A
• NM_000535.7:c.1119T>AMANE SELECT
• NM_001322003.2:c.714T>A
• NM_001322004.2:c.714T>A
• NM_001322005.2:c.714T>A
• NM_001322006.2:c.988+2148T>A
• NM_001322007.2:c.801T>A
• NM_001322008.2:c.801T>A
• NM_001322009.2:c.714T>A
• NM_001322010.2:c.583+2148T>A
• NM_001322011.2:c.186T>A
• NM_001322012.2:c.186T>A
• NM_001322013.2:c.546T>A
• NM_001322014.2:c.1119T>A
• NM_001322015.2:c.810T>A
• NP_000526.2:p.Ser373Arg
• NP_001308932.1:p.Ser238Arg
• NP_001308933.1:p.Ser238Arg
• NP_001308934.1:p.Ser238Arg
• NP_001308936.1:p.Ser267Arg
• NP_001308937.1:p.Ser267Arg
• NP_001308938.1:p.Ser238Arg
• NP_001308940.1:p.Ser62Arg
• NP_001308941.1:p.Ser62Arg
• NP_001308942.1:p.Ser182Arg
• NP_001308943.1:p.Ser373Arg
• NP_001308944.1:p.Ser270Arg
• LRG_161t1:c.1119T>A
• LRG_161:g.24282T>A
• NC_000007.13:g.6029456A>T
• NM_000535.5:c.1119T>A
• NR_136154.1:n.1206T>A

This HGVS expression did not pass validation

Protein change:

S182R

Links:

dbSNP: rs1060503147

NCBI 1000 Genomes Browser:

rs1060503147

Molecular consequence:

• NM_001322006.2:c.988+2148T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001322010.2:c.583+2148T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000535.7:c.1119T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322003.2:c.714T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322004.2:c.714T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322005.2:c.714T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322007.2:c.801T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322008.2:c.801T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322009.2:c.714T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322011.2:c.186T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322012.2:c.186T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322013.2:c.546T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322014.2:c.1119T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322015.2:c.810T>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_136154.1:n.1206T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]