ClinVar

NM_000284.4(PDHA1):c.*110C>T

Gene:

PDHA1:pyruvate dehydrogenase E1 subunit alpha 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.12

Genomic location:

• ChrX: 19359763 (on Assembly GRCh38)
• ChrX: 19377881 (on Assembly GRCh37)

Preferred name:

NM_000284.4(PDHA1):c.*110C>T

HGVS:

• NC_000023.11:g.19359763C>T
• NG_016781.1:g.20871C>T
• NG_021184.1:g.160499G>A
• NM_000284.4:c.*110C>TMANE SELECT
• NM_001173454.2:c.*110C>T
• NM_001173455.2:c.*110C>T
• NM_001173456.2:c.*110C>T
• NC_000023.10:g.19377881C>T
• NM_000284.3:c.*110C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs709610

NCBI 1000 Genomes Browser:

rs709610

Molecular consequence:

• NM_000284.4:c.*110C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001173454.2:c.*110C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001173455.2:c.*110C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001173456.2:c.*110C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]