ClinVar

NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

Xp22.12

Genomic location:

• ChrX: 19359619 - 19359620 (on Assembly GRCh38)
• ChrX: 19377737 - 19377738 (on Assembly GRCh37)

Preferred name:

NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs)

Other names:

NM_000284.4(PDHA1):c.1142_1145dup; p.Trp383fs

HGVS:

• NC_000023.11:g.19359622_19359625dup
• NG_016781.1:g.20730_20733dup
• NG_021184.1:g.160639_160642dup
• NM_000284.4:c.1142_1145dupMANE SELECT
• NM_001173454.2:c.1256_1259dup
• NM_001173455.2:c.1163_1166dup
• NM_001173456.2:c.1049_1052dup
• NP_000275.1:p.Trp383fs
• NP_001166925.1:p.Trp421fs
• NP_001166925.1:p.Trp421fs
• NP_001166926.1:p.Trp390fs
• NP_001166927.1:p.Trp352fs
• NC_000023.10:g.19377737_19377738insCAAT
• NC_000023.10:g.19377740_19377743dup
• NM_000284.3:c.1142_1145dupATCA
• NM_001173454.1:c.1256_1259dup
• p.W383SfsX6

This HGVS expression did not pass validation

Note:

NCBI staff reviewed the sequence information reported in PubMed 1338114 Fig. 2 to determine the location of this insertion on the current reference sequence.

Protein change:

W352fs

Links:

OMIM: 300502.0010; dbSNP: rs606231189

NCBI 1000 Genomes Browser:

rs606231189

Molecular consequence:

• NM_000284.4:c.1142_1145dup - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001173454.2:c.1256_1259dup - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001173455.2:c.1163_1166dup - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001173456.2:c.1049_1052dup - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

2