NM_000485.2(APRT):c.407T>C (p.Met136Thr) AND Adenine phosphoribosyltransferase deficiency

Clinical significance:Pathogenic (Last evaluated: Aug 30, 2012)

Review status:1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000033908.2

Allele description [Variation Report for ]

NM_000485.2(APRT):c.407T>C (p.Met136Thr)

Gene:
APRT:adenine phosphoribosyltransferase [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
16q24.3
Genomic location:
Preferred name:
NM_000485.2(APRT):c.407T>C (p.Met136Thr)
HGVS:
  • NC_000016.10:g.88809834A>G
  • NG_008013.1:g.7101T>C
  • NM_000485.2:c.407T>C
  • NM_001030018.1:c.401-128T>C
  • NP_000476.1:p.Met136Thr
  • NC_000016.9:g.88876242A>G
Protein change:
M136T; MET136THR
Links:
OMIM: 102600.0003; dbSNP: 28999113
NCBI 1000 Genomes Browser:
rs28999113
Molecular consequence:
  • NM_000485.2:c.407T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001030018.1:c.401-128T>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Adenine phosphoribosyltransferase deficiency (APRTD)
Synonyms:
Dihydroxyadeninuria; UROLITHIASIS, 2,8-DIHYDROXYADENINE; UROLITHIASIS, DHA; See all synonyms [MedGen]
Identifiers:
MedGen: C0268120; Orphanet: 976; OMIM: 614723
Age of onset:
Variable
Prevalence:
1-9 / 100 000 976

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000057822GeneReviewspathologic
(Aug 30, 2012)
not providedcuration

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot providednot providednot providedliterature only

Details of each submission

From GeneReviews, SCV000057822.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Apr 23, 2015