ClinVar

NM_000271.5(NPC1):c.445G>A (p.Gly149Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

18q11.2

Genomic location:

• Chr18: 23568841 (on Assembly GRCh38)
• Chr18: 21148805 (on Assembly GRCh37)

Preferred name:

NM_000271.5(NPC1):c.445G>A (p.Gly149Arg)

HGVS:

• NC_000018.10:g.23568841C>T
• NG_012795.1:g.22777G>A
• NM_000271.5:c.445G>AMANE SELECT
• NP_000262.2:p.Gly149Arg
• NC_000018.9:g.21148805C>T
• NM_000271.4:c.445G>A

This HGVS expression did not pass validation

Protein change:

G149R

Links:

dbSNP: rs143205855

NCBI 1000 Genomes Browser:

rs143205855

Molecular consequence:

• NM_000271.5:c.445G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1