NM_001875.4(CPS1):c.1775dup (p.Gly594Trpfs) AND Congenital hyperammonemia, type I

Clinical significance:Likely pathogenic (Last evaluated: Mar 14, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000665850.1

Allele description [Variation Report for NM_001875.4(CPS1):c.1775dup (p.Gly594Trpfs)]

NM_001875.4(CPS1):c.1775dup (p.Gly594Trpfs)

Gene:
CPS1:carbamoyl-phosphate synthase 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2q34
Genomic location:
Preferred name:
NM_001875.4(CPS1):c.1775dup (p.Gly594Trpfs)
HGVS:
  • NC_000002.12:g.210602269dup
  • NG_008285.1:g.129585dup
  • NM_001875.4:c.1775dup
  • NP_001866.2:p.Gly594Trpfs
  • LRG_336t1:c.1775dup
  • LRG_336:g.129585dup
  • LRG_336p1:p.Gly594Trpfs
  • NC_000002.11:g.211466993dup
  • NM_001875.4:c.1775dupT
Links:
dbSNP: rs1341782266
NCBI 1000 Genomes Browser:
rs1341782266
Molecular consequence:
  • NM_001875.4:c.1775dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000790036Counsylcriteria provided, single submitter
Likely pathogenic
(Mar 14, 2017)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000790036.1

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

Last Updated: Mar 30, 2019

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