ClinVar

NM_002979.5(SCP2):c.825+1G>T

Gene:

SCP2:sterol carrier protein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p32.3

Genomic location:

• Chr1: 52978368 (on Assembly GRCh38)
• Chr1: 53444040 (on Assembly GRCh37)

Preferred name:

NM_002979.5(SCP2):c.825+1G>T

HGVS:

• NC_000001.11:g.52978368G>T
• NG_012211.1:g.56093G>T
• NM_001007098.3:c.693+1G>T
• NM_001193599.2:c.753+1G>T
• NM_001193600.2:c.693+1G>T
• NM_001193617.2:c.582+1G>T
• NM_001330587.2:c.825+1G>T
• NM_002979.4:c.825+1G>T
• NM_002979.5:c.825+1G>TMANE SELECT
• NC_000001.10:g.53444040G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs144132787

NCBI 1000 Genomes Browser:

rs144132787

Molecular consequence:

• NM_001007098.3:c.693+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001193599.2:c.753+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001193600.2:c.693+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001193617.2:c.582+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001330587.2:c.825+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_002979.5:c.825+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

Observations:

1