ClinVar

NM_000860.6(HPGD):c.597C>T (p.Asn199=)

Gene:

HPGD:15-hydroxyprostaglandin dehydrogenase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q34.1

Genomic location:

• Chr4: 174493216 (on Assembly GRCh38)
• Chr4: 175414367 (on Assembly GRCh37)

Preferred name:

NM_000860.6(HPGD):c.597C>T (p.Asn199=)

HGVS:

• NC_000004.12:g.174493216G>A
• NG_011689.1:g.34426C>T
• NM_000860.6:c.597C>TMANE SELECT
• NM_001145816.3:c.499-1122C>T
• NM_001256301.1:c.234C>T
• NM_001256305.2:c.422-1122C>T
• NM_001256306.2:c.393C>T
• NM_001256307.2:c.234C>T
• NP_000851.2:p.Asn199=
• NP_001243230.1:p.Asn78=
• NP_001243235.1:p.Asn131=
• NP_001243236.1:p.Asn78=
• NC_000004.11:g.175414367G>A
• NR_027332.1:n.774C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001145816.3:c.499-1122C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001256305.2:c.422-1122C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000860.6:c.597C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001256301.1:c.234C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001256306.2:c.393C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001256307.2:c.234C>T - synonymous variant - [Sequence Ontology: SO:0001819]