NM_001875.4(CPS1):c.4404+4T>A AND Congenital hyperammonemia, type I

Clinical significance:Uncertain significance (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000326845.1

Allele description [Variation Report for NM_001875.4(CPS1):c.4404+4T>A]

NM_001875.4(CPS1):c.4404+4T>A

Gene:
CPS1:carbamoyl-phosphate synthase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q34
Genomic location:
Preferred name:
NM_001875.4(CPS1):c.4404+4T>A
HGVS:
  • NC_000002.12:g.210677140T>A
  • NG_008285.1:g.204456T>A
  • NM_001875.4:c.4404+4T>A
  • LRG_336t1:c.4404+4T>A
  • LRG_336:g.204456T>A
  • NC_000002.11:g.211541864T>A
Links:
dbSNP: rs199739254
NCBI 1000 Genomes Browser:
rs199739254
Molecular consequence:
  • NM_001875.4:c.4404+4T>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Congenital hyperammonemia, type I
Synonyms:
CPS I DEFICIENCY; Carbamoyl phosphate synthetase 1 deficiency
Identifiers:
MedGen: C4082171; Orphanet: 147; OMIM: 237300

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000426851Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000426851.2

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

Last Updated: Mar 30, 2019

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