ClinVar

NM_003477.3(PDHX):c.-4C>G

Genes:

LOC130005549:ATAC-STARR-seq lymphoblastoid active region 4608 [Gene]
PDHX:pyruvate dehydrogenase complex component X [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p13

Genomic location:

• Chr11: 34916652 (on Assembly GRCh38)
• Chr11: 34938199 (on Assembly GRCh37)

Preferred name:

NM_003477.3(PDHX):c.-4C>G

HGVS:

• NC_000011.10:g.34916652C>G
• NG_013368.1:g.5523C>G
• NM_001135024.2:c.-21+166C>G
• NM_001166158.2:c.-4C>G
• NM_003477.3:c.-4C>GMANE SELECT
• NC_000011.9:g.34938199C>G
• NM_003477.2:c.-4C>G

This HGVS expression did not pass validation

Links:

dbSNP: rs3818401

NCBI 1000 Genomes Browser:

rs3818401

Molecular consequence:

• NM_001166158.2:c.-4C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_003477.3:c.-4C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001135024.2:c.-21+166C>G - intron variant - [Sequence Ontology: SO:0001627]

Observations:

2