ClinVar

NM_024747.6(HPS6):c.398C>T (p.Ala133Val)

Gene:

HPS6:HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q24.32

Genomic location:

• Chr10: 102065872 (on Assembly GRCh38)
• Chr10: 103825629 (on Assembly GRCh37)

Preferred name:

NM_024747.6(HPS6):c.398C>T (p.Ala133Val)

HGVS:

• NC_000010.11:g.102065872C>T
• NG_012029.1:g.5483C>T
• NM_024747.6:c.398C>TMANE SELECT
• NP_079023.2:p.Ala133Val
• NP_079023.2:p.Ala133Val
• LRG_564t1:c.398C>T
• LRG_564:g.5483C>T
• LRG_564p1:p.Ala133Val
• NC_000010.10:g.103825629C>T
• NM_024747.5:c.398C>T

This HGVS expression did not pass validation

Protein change:

A133V

Links:

dbSNP: rs199816481

NCBI 1000 Genomes Browser:

rs199816481

Molecular consequence:

• NM_024747.6:c.398C>T - missense variant - [Sequence Ontology: SO:0001583]