ClinVar

NM_001371279.1(REEP1):c.396G>A (p.Ala132=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p11.2

Genomic location:

• Chr2: 86251978 (on Assembly GRCh38)
• Chr2: 86479101 (on Assembly GRCh37)

Preferred name:

NM_001371279.1(REEP1):c.396G>A (p.Ala132=)

HGVS:

• NC_000002.12:g.86251978C>T
• NG_013037.1:g.91106G>A
• NM_001164730.2:c.417G>A
• NM_001164731.2:c.315G>A
• NM_001164732.2:c.182+11987G>A
• NM_001371279.1:c.396G>AMANE SELECT
• NM_001371280.1:c.396G>A
• NM_022912.3:c.396G>A
• NP_001158202.1:p.Ala139=
• NP_001158203.1:p.Ala105=
• NP_001358208.1:p.Ala132=
• NP_001358209.1:p.Ala132=
• NP_075063.1:p.Ala132=
• NP_075063.1:p.Ala132=
• LRG_713t2:c.396G>A
• LRG_713:g.91106G>A
• LRG_713p2:p.Ala132=
• NC_000002.11:g.86479101C>T
• NM_022912.2:c.396G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs377712421

NCBI 1000 Genomes Browser:

rs377712421

Molecular consequence:

• NM_001164732.2:c.182+11987G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001164730.2:c.417G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001164731.2:c.315G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001371279.1:c.396G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001371280.1:c.396G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_022912.3:c.396G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1