ClinVar

NM_001371279.1(REEP1):c.304-1G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p11.2

Genomic location:

• Chr2: 86252071 (on Assembly GRCh38)
• Chr2: 86479194 (on Assembly GRCh37)

Preferred name:

NM_001371279.1(REEP1):c.304-1G>A

HGVS:

• NC_000002.12:g.86252071C>T
• NG_013037.1:g.91013G>A
• NM_001164730.2:c.325-1G>A
• NM_001164731.2:c.223-1G>A
• NM_001164732.2:c.182+11894G>A
• NM_001371279.1:c.304-1G>AMANE SELECT
• NM_001371280.1:c.304-1G>A
• NM_001410855.1:c.304-1G>A
• NM_001410856.1:c.304-1G>A
• NM_022912.3:c.304-1G>A
• LRG_713:g.91013G>A
• NC_000002.11:g.86479194C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs2104225081

NCBI 1000 Genomes Browser:

rs2104225081

Molecular consequence:

• NM_001164732.2:c.182+11894G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001164730.2:c.325-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001164731.2:c.223-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001371279.1:c.304-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001371280.1:c.304-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001410855.1:c.304-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001410856.1:c.304-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_022912.3:c.304-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]