ClinVar

NM_001371279.1(REEP1):c.793A>G (p.Arg265Gly)

Gene:

REEP1:receptor accessory protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p11.2

Genomic location:

• Chr2: 86217101 (on Assembly GRCh38)
• Chr2: 86444224 (on Assembly GRCh37)

Preferred name:

NM_001371279.1(REEP1):c.793A>G (p.Arg265Gly)

Other names:

*175W; *202W; *209W

HGVS:

• NC_000002.12:g.86217101T>C
• NG_013037.1:g.125983A>G
• NM_001164730.2:c.626A>G
• NM_001164731.2:c.524A>G
• NM_001164732.2:c.370A>G
• NM_001371279.1:c.793A>GMANE SELECT
• NM_001371280.1:c.427A>G
• NM_022912.3:c.605A>G
• NP_001158202.1:p.Ter209Trp
• NP_001158203.1:p.Ter175Trp
• NP_001158204.1:p.Arg124Gly
• NP_001358208.1:p.Arg265Gly
• NP_001358209.1:p.Arg143Gly
• NP_075063.1:p.Ter202Trp
• NP_075063.1:p.Ter202Trp
• LRG_713t2:c.605A>G
• LRG_713:g.125983A>G
• LRG_713p2:p.Ter202Trp
• NC_000002.11:g.86444224T>C
• NM_001164731.1:c.524A>G
• NM_022912.2:c.605A>G

This HGVS expression did not pass validation

Protein change:

R124G

Links:

dbSNP: rs587781248

NCBI 1000 Genomes Browser:

rs587781248

Molecular consequence:

• NM_001164732.2:c.370A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371279.1:c.793A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371280.1:c.427A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164730.2:c.626A>G - stop lost - [Sequence Ontology: SO:0001578]
• NM_001164731.2:c.524A>G - stop lost - [Sequence Ontology: SO:0001578]
• NM_022912.3:c.605A>G - stop lost - [Sequence Ontology: SO:0001578]