ClinVar

NM_016335.6(PRODH):c.1397C>T (p.Thr466Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

22q11.21

Genomic location:

• Chr22: 18918346 (on Assembly GRCh38)
• Chr22: 18905859 (on Assembly GRCh37)

Preferred name:

NM_016335.6(PRODH):c.1397C>T (p.Thr466Met)

HGVS:

• NC_000022.11:g.18918346G>A
• NG_008226.3:g.23208C>T
• NM_001195226.2:c.1073C>T
• NM_016335.6:c.1397C>TMANE SELECT
• NP_001182155.2:p.Thr358Met
• NP_057419.5:p.Thr466Met
• NC_000022.10:g.18905859G>A
• NG_008226.2:g.23208C>T
• NM_016335.4:c.1397C>T

This HGVS expression did not pass validation

Protein change:

T358M; THR466MET

Links:

OMIM: 606810.0009; dbSNP: rs2870984

NCBI 1000 Genomes Browser:

rs2870984

Molecular consequence:

• NM_001195226.2:c.1073C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_016335.6:c.1397C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2