ClinVar

NM_002979.5(SCP2):c.331+285A>C

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p32.3

Genomic location:

• Chr1: 52951171 (on Assembly GRCh38)
• Chr1: 53416843 (on Assembly GRCh37)

Preferred name:

NM_002979.5(SCP2):c.331+285A>C

HGVS:

• NC_000001.11:g.52951171A>C
• NG_012211.1:g.28896A>C
• NM_001007098.3:c.199+3091A>C
• NM_001193599.2:c.259+285A>C
• NM_001193600.2:c.199+3091A>C
• NM_001193617.2:c.88+285A>C
• NM_001330587.2:c.331+285A>C
• NM_002979.5:c.331+285A>CMANE SELECT
• NC_000001.10:g.53416843A>C

This HGVS expression did not pass validation

Links:

dbSNP: rs114812863

NCBI 1000 Genomes Browser:

rs114812863

Molecular consequence:

• NM_001007098.3:c.199+3091A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001193599.2:c.259+285A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001193600.2:c.199+3091A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001193617.2:c.88+285A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001330587.2:c.331+285A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_002979.5:c.331+285A>C - intron variant - [Sequence Ontology: SO:0001627]