ClinVar

NM_006432.5(NPC2):c.191-187_191-186insG

Gene:

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

Variant type:

Insertion

Cytogenetic location:

14q24.3

Genomic location:

• Chr14: 74484773 - 74484774 (on Assembly GRCh38)
• Chr14: 74951476 - 74951477 (on Assembly GRCh37)

Preferred name:

NM_006432.5(NPC2):c.191-187_191-186insG

HGVS:

• NC_000014.9:g.74484773_74484774insC
• NG_007117.1:g.13608_13609insG
• NM_001363688.1:c.191-187_191-186insG
• NM_001375440.1:c.191-187_191-186insG
• NM_006432.5:c.191-187_191-186insGMANE SELECT
• NC_000014.8:g.74951476_74951477insC

This HGVS expression did not pass validation

Links:

dbSNP: rs377081916

NCBI 1000 Genomes Browser:

rs377081916

Molecular consequence:

• NM_001363688.1:c.191-187_191-186insG - intron variant - [Sequence Ontology: SO:0001627]
• NM_001375440.1:c.191-187_191-186insG - intron variant - [Sequence Ontology: SO:0001627]
• NM_006432.5:c.191-187_191-186insG - intron variant - [Sequence Ontology: SO:0001627]