ClinVar

NM_000925.4(PDHB):c.507C>T (p.Cys169=)

Gene:

PDHB:pyruvate dehydrogenase E1 subunit beta [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p14.3

Genomic location:

• Chr3: 58430739 (on Assembly GRCh38)
• Chr3: 58416466 (on Assembly GRCh37)

Preferred name:

NM_000925.4(PDHB):c.507C>T (p.Cys169=)

HGVS:

• NC_000003.12:g.58430739G>A
• NG_016860.1:g.8114C>T
• NM_000925.4:c.507C>TMANE SELECT
• NM_001173468.2:c.453C>T
• NM_001315536.2:c.453C>T
• NP_000916.2:p.Cys169=
• NP_001166939.1:p.Cys151=
• NP_001302465.1:p.Cys151=
• NC_000003.11:g.58416466G>A
• NR_033384.2:n.613C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs143765288

NCBI 1000 Genomes Browser:

rs143765288

Molecular consequence:

• NR_033384.2:n.613C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000925.4:c.507C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001173468.2:c.453C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001315536.2:c.453C>T - synonymous variant - [Sequence Ontology: SO:0001819]