ClinVar

NM_000925.4(PDHB):c.495G>T (p.Trp165Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p14.3

Genomic location:

• Chr3: 58430751 (on Assembly GRCh38)
• Chr3: 58416478 (on Assembly GRCh37)

Preferred name:

NM_000925.4(PDHB):c.495G>T (p.Trp165Cys)

HGVS:

• NC_000003.12:g.58430751C>A
• NG_016860.1:g.8102G>T
• NM_000925.4:c.495G>TMANE SELECT
• NM_001173468.2:c.441G>T
• NM_001315536.2:c.441G>T
• NP_000916.2:p.Trp165Cys
• NP_001166939.1:p.Trp147Cys
• NP_001302465.1:p.Trp147Cys
• NC_000003.11:g.58416478C>A
• NM_000925.3:c.495G>T
• NR_033384.2:n.601G>T

This HGVS expression did not pass validation

Protein change:

W147C

Links:

dbSNP: rs1553848441

NCBI 1000 Genomes Browser:

rs1553848441

Molecular consequence:

• NM_000925.4:c.495G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001173468.2:c.441G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001315536.2:c.441G>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_033384.2:n.601G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]