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NM_018129.4(PNPO):c.674G>A (p.Arg225His) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 27, 2016
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000414812.3

Allele description [Variation Report for NM_018129.4(PNPO):c.674G>A (p.Arg225His)]

NM_018129.4(PNPO):c.674G>A (p.Arg225His)

Gene:
PNPO:pyridoxamine 5'-phosphate oxidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.32
Genomic location:
Preferred name:
NM_018129.4(PNPO):c.674G>A (p.Arg225His)
HGVS:
  • NC_000017.11:g.47946670G>A
  • NG_008744.1:g.10148G>A
  • NM_018129.4:c.674G>AMANE SELECT
  • NP_060599.1:p.Arg225His
  • NC_000017.10:g.46024036G>A
  • NM_018129.3:c.674G>A
Protein change:
R225H; ARG225HIS
Links:
OMIM: 603287.0005
Molecular consequence:
  • NM_018129.4:c.674G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Seizure
Synonyms:
Seizures
Identifiers:
MedGen: C0036572; Human Phenotype Ontology: HP:0001250
Name:
Fetal growth restriction (IUGR)
Synonyms:
Intrauterine growth restriction; Intrauterine growth retardation
Identifiers:
MONDO: MONDO:0005030; MedGen: C0015934; Human Phenotype Ontology: HP:0001511
Name:
Growth delay
Synonyms:
Growth Retardation
Identifiers:
MedGen: C0456070; Human Phenotype Ontology: HP:0001510

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000492675Centre for Mendelian Genomics, University Medical Centre Ljubljana
no assertion criteria provided
Pathogenic
(Jan 27, 2016) 		unknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV000492675.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024