ClinVar

NM_002979.5(SCP2):c.1082-10G>T

Genes:

LOC129930559:ATAC-STARR-seq lymphoblastoid active region 1040 [Gene]
SCP2:sterol carrier protein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p32.3

Genomic location:

• Chr1: 53014880 (on Assembly GRCh38)
• Chr1: 53480552 (on Assembly GRCh37)

Preferred name:

NM_002979.5(SCP2):c.1082-10G>T

HGVS:

• NC_000001.11:g.53014880G>T
• NG_012211.1:g.92605G>T
• NM_001193599.2:c.1010-10G>T
• NM_001193600.2:c.950-10G>T
• NM_001193617.2:c.839-10G>T
• NM_002979.5:c.1082-10G>TMANE SELECT
• NC_000001.10:g.53480552G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs373487934

NCBI 1000 Genomes Browser:

rs373487934

Molecular consequence:

• NM_001193599.2:c.1010-10G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001193600.2:c.950-10G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001193617.2:c.839-10G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_002979.5:c.1082-10G>T - intron variant - [Sequence Ontology: SO:0001627]