ClinVar

NM_002743.2(PRKCSH):c.-168G>A

Genes:

PRKCSH:PRKCSH beta subunit of glucosidase II [Gene - OMIM - HGNC]
ODAD3:outer dynein arm docking complex subunit 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11435616 (on Assembly GRCh38)
• Chr19: 11546437 (on Assembly GRCh37)

Preferred name:

NM_002743.2(PRKCSH):c.-168G>A

HGVS:

• NC_000019.10:g.11435616G>A
• NG_009300.1:g.5169G>A
• NG_009300.2:g.4983G>A
• NG_041777.1:g.5167C>T
• NG_140423.1:g.477G>A
• NM_001001329.2:c.-168G>A
• NM_001289103.1:c.-172G>A
• NM_001289104.1:c.-168G>A
• NM_001302453.1:c.82+74C>T
• NM_002743.2:c.-168G>A
• NC_000019.9:g.11546437G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs369133175

NCBI 1000 Genomes Browser:

rs369133175

Molecular consequence:

• NM_001302453.1:c.82+74C>T - intron variant - [Sequence Ontology: SO:0001627]