ClinVar

NM_001171155.2(PET100):c.139-161G>A

Genes:

PET100:PET100 cytochrome c oxidase chaperone [Gene - OMIM - HGNC]
STXBP2:syntaxin binding protein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 7631312 (on Assembly GRCh38)
• Chr19: 7696198 (on Assembly GRCh37)

Preferred name:

NM_001171155.2(PET100):c.139-161G>A

HGVS:

• NC_000019.10:g.7631312G>A
• NG_034117.1:g.6528G>A
• NM_001171155.2:c.139-161G>AMANE SELECT
• NC_000019.9:g.7696198G>A
• NR_033242.2:n.260G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs113124654

NCBI 1000 Genomes Browser:

rs113124654

Molecular consequence:

• NM_001171155.2:c.139-161G>A - intron variant - [Sequence Ontology: SO:0001627]
• NR_033242.2:n.260G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]