ClinVar

NM_000271.5(NPC1):c.1224C>T (p.Leu408=)

Gene:

NPC1:NPC intracellular cholesterol transporter 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q11.2

Genomic location:

• Chr18: 23556345 (on Assembly GRCh38)
• Chr18: 21136309 (on Assembly GRCh37)

Preferred name:

NM_000271.5(NPC1):c.1224C>T (p.Leu408=)

HGVS:

• NC_000018.10:g.23556345G>A
• NG_012795.1:g.35273C>T
• NM_000271.5:c.1224C>TMANE SELECT
• NP_000262.2:p.Leu408=
• NC_000018.9:g.21136309G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs759901793

NCBI 1000 Genomes Browser:

rs759901793

Molecular consequence:

• NM_000271.5:c.1224C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2