ClinVar

NM_000271.5(NPC1):c.1695C>T (p.Phe565=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

18q11.2

Genomic location:

• Chr18: 23548068 (on Assembly GRCh38)
• Chr18: 21128032 (on Assembly GRCh37)

Preferred name:

NM_000271.5(NPC1):c.1695C>T (p.Phe565=)

HGVS:

• NC_000018.10:g.23548068G>A
• NG_012795.1:g.43550C>T
• NM_000271.5:c.1695C>TMANE SELECT
• NP_000262.2:p.Phe565=
• NC_000018.9:g.21128032G>A
• NM_000271.4:c.1695C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs373094778

NCBI 1000 Genomes Browser:

rs373094778

Molecular consequence:

• NM_000271.5:c.1695C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1