ClinVar

NM_001371279.1(REEP1):c.837G>T (p.Ser279=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p11.2

Genomic location:

• Chr2: 86217057 (on Assembly GRCh38)
• Chr2: 86444180 (on Assembly GRCh37)

Preferred name:

NM_001371279.1(REEP1):c.837G>T (p.Ser279=)

HGVS:

• NC_000002.12:g.86217057C>A
• NG_013037.1:g.126027G>T
• NM_001164730.2:c.*43G>T
• NM_001164731.2:c.*43G>T
• NM_001164732.1:c.414G>T
• NM_001164732.2:c.414G>T
• NM_001371279.1:c.837G>TMANE SELECT
• NM_001371280.1:c.471G>T
• NM_022912.3:c.*43G>T
• NP_001158204.1:p.Ser138=
• NP_001358208.1:p.Ser279=
• NP_001358209.1:p.Ser157=
• LRG_713t2:c.*43G>T
• LRG_713:g.126027G>T
• NC_000002.11:g.86444180C>A
• NM_001164731.1:c.*43G>T
• NM_022912.2:c.*43G>T

This HGVS expression did not pass validation

Nucleotide change:

606+43G-T, 3-PRIME UTR

Links:

OMIM: 609139.0003; dbSNP: rs377637314

NCBI 1000 Genomes Browser:

rs377637314

Molecular consequence:

• NM_001164730.2:c.*43G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001164731.2:c.*43G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_022912.3:c.*43G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001164732.2:c.414G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001371279.1:c.837G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001371280.1:c.471G>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

4