ClinVar

NM_006432.5(NPC2):c.82+295G>A

Gene:

NPC2:NPC intracellular cholesterol transporter 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q24.3

Genomic location:

• Chr14: 74492898 (on Assembly GRCh38)
• Chr14: 74959601 (on Assembly GRCh37)

Preferred name:

NM_006432.5(NPC2):c.82+295G>A

HGVS:

• NC_000014.9:g.74492898C>T
• NG_007117.1:g.5484G>A
• NG_033074.1:g.4179C>T
• NM_001363688.1:c.82+295G>A
• NM_001375440.1:c.82+295G>A
• NM_006432.5:c.82+295G>AMANE SELECT
• NC_000014.8:g.74959601C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs144655652

NCBI 1000 Genomes Browser:

rs144655652

Molecular consequence:

• NM_001363688.1:c.82+295G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001375440.1:c.82+295G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_006432.5:c.82+295G>A - intron variant - [Sequence Ontology: SO:0001627]