NM_054012.4(ASS1):c.3G>A (p.Met1Ile) AND Citrullinemia type I

Clinical significance:Likely pathogenic (Last evaluated: Jun 13, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000411464.1

Allele description [Variation Report for NM_054012.4(ASS1):c.3G>A (p.Met1Ile)]

NM_054012.4(ASS1):c.3G>A (p.Met1Ile)

Gene:
ASS1:argininosuccinate synthase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_054012.4(ASS1):c.3G>A (p.Met1Ile)
HGVS:
  • NC_000009.12:g.130452231G>A
  • NG_011542.1:g.12525G>A
  • NM_000050.4:c.3G>A
  • NM_054012.4:c.3G>AMANE SELECT
  • NP_000041.2:p.Met1Ile
  • NP_446464.1:p.Met1Ile
  • NC_000009.11:g.133327618G>A
Protein change:
M1I
Links:
dbSNP: rs1057516960
NCBI 1000 Genomes Browser:
rs1057516960
Molecular consequence:
  • NM_000050.4:c.3G>A - initiatior codon variant - [Sequence Ontology: SO:0001582]
  • NM_054012.4:c.3G>A - initiatior codon variant - [Sequence Ontology: SO:0001582]
  • NM_000050.4:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_054012.4:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Citrullinemia type I (CTNL1)
Synonyms:
Classic citrullinemia; Citrullinuria; ASS deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008988; MedGen: C4721769; Orphanet: 247525; OMIM: 215700

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000486506Counsylcriteria provided, single submitter
Likely pathogenic
(Jun 13, 2016)
unknownclinical testing

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000486506.1

#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: Oct 7, 2021

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