ClinVar

NM_000535.7(PMS2):c.2081A>T (p.Asp694Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7p22.1

Genomic location:

• Chr7: 5982917 (on Assembly GRCh38)
• Chr7: 6022548 (on Assembly GRCh37)

Preferred name:

NM_000535.7(PMS2):c.2081A>T (p.Asp694Val)

HGVS:

• NC_000007.14:g.5982917T>A
• NG_008466.1:g.31190A>T
• NM_000535.7:c.2081A>TMANE SELECT
• NM_001322003.2:c.1676A>T
• NM_001322004.2:c.1676A>T
• NM_001322005.2:c.1676A>T
• NM_001322006.2:c.1925A>T
• NM_001322007.2:c.1763A>T
• NM_001322008.2:c.1763A>T
• NM_001322009.2:c.1676A>T
• NM_001322010.2:c.1520A>T
• NM_001322011.2:c.1148A>T
• NM_001322012.2:c.1148A>T
• NM_001322013.2:c.1508A>T
• NM_001322014.2:c.2081A>T
• NM_001322015.2:c.1772A>T
• NP_000526.2:p.Asp694Val
• NP_001308932.1:p.Asp559Val
• NP_001308933.1:p.Asp559Val
• NP_001308934.1:p.Asp559Val
• NP_001308935.1:p.Asp642Val
• NP_001308936.1:p.Asp588Val
• NP_001308937.1:p.Asp588Val
• NP_001308938.1:p.Asp559Val
• NP_001308939.1:p.Asp507Val
• NP_001308940.1:p.Asp383Val
• NP_001308941.1:p.Asp383Val
• NP_001308942.1:p.Asp503Val
• NP_001308943.1:p.Asp694Val
• NP_001308944.1:p.Asp591Val
• LRG_161t1:c.2081A>T
• LRG_161:g.31190A>T
• NC_000007.13:g.6022548T>A
• NM_000535.5:c.2081A>T
• NM_000535.6:c.2081A>T
• NR_136154.1:n.2168A>T

This HGVS expression did not pass validation

Protein change:

D383V

Links:

dbSNP: rs1554295876

NCBI 1000 Genomes Browser:

rs1554295876

Molecular consequence:

• NM_000535.7:c.2081A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322003.2:c.1676A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322004.2:c.1676A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322005.2:c.1676A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322006.2:c.1925A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322007.2:c.1763A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322008.2:c.1763A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322009.2:c.1676A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322010.2:c.1520A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322011.2:c.1148A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322012.2:c.1148A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322013.2:c.1508A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322014.2:c.2081A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322015.2:c.1772A>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_136154.1:n.2168A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]