ClinVar

NM_016335.6(PRODH):c.554G>A (p.Trp185Ter)

Gene:

PRODH:proline dehydrogenase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q11.21

Genomic location:

• Chr22: 18925164 (on Assembly GRCh38)
• Chr22: 18912677 (on Assembly GRCh37)

Preferred name:

NM_016335.6(PRODH):c.554G>A (p.Trp185Ter)

HGVS:

• NC_000022.11:g.18925164C>T
• NG_008226.3:g.16390G>A
• NM_001195226.2:c.230G>A
• NM_016335.6:c.554G>AMANE SELECT
• NP_001182155.2:p.Trp77Ter
• NP_057419.5:p.Trp185Ter
• NC_000022.10:g.18912677C>T
• NP_057419.4:p.Arg185Ter

This HGVS expression did not pass validation

Protein change:

W185*

Links:

dbSNP: rs11913840

NCBI 1000 Genomes Browser:

rs11913840

Molecular consequence:

• NM_001195226.2:c.230G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_016335.6:c.554G>A - nonsense - [Sequence Ontology: SO:0001587]