ClinVar

NM_000925.4(PDHB):c.396C>T (p.Tyr132=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p14.3

Genomic location:

• Chr3: 58430850 (on Assembly GRCh38)
• Chr3: 58416577 (on Assembly GRCh37)

Preferred name:

NM_000925.4(PDHB):c.396C>T (p.Tyr132=)

HGVS:

• NC_000003.12:g.58430850G>A
• NG_016860.1:g.8003C>T
• NM_000925.4:c.396C>TMANE SELECT
• NM_001173468.2:c.396C>T
• NM_001315536.2:c.342C>T
• NP_000916.2:p.Tyr132=
• NP_001166939.1:p.Tyr132=
• NP_001302465.1:p.Tyr114=
• NC_000003.11:g.58416577G>A
• NR_033384.2:n.502C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs2107939689

NCBI 1000 Genomes Browser:

rs2107939689

Molecular consequence:

• NR_033384.2:n.502C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000925.4:c.396C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001173468.2:c.396C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001315536.2:c.342C>T - synonymous variant - [Sequence Ontology: SO:0001819]