NM_000137.4(FAH):c.1190del (p.Gln397fs) AND Tyrosinemia type I

Clinical significance:Likely pathogenic (Last evaluated: Jul 31, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000169267.1

Allele description [Variation Report for NM_000137.4(FAH):c.1190del (p.Gln397fs)]

NM_000137.4(FAH):c.1190del (p.Gln397fs)

Gene:
FAH:fumarylacetoacetate hydrolase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
15q25.1
Genomic location:
Preferred name:
NM_000137.4(FAH):c.1190del (p.Gln397fs)
HGVS:
  • NC_000015.10:g.80186139del
  • NG_012833.1:g.38141del
  • NM_000137.4:c.1190delMANE SELECT
  • NM_001374377.1:c.1190del
  • NM_001374380.1:c.1190del
  • NP_000128.1:p.Gln397fs
  • NP_001361306.1:p.Gln397fs
  • NP_001361309.1:p.Gln397fs
  • NC_000015.9:g.80478481del
  • NM_000137.2:c.1190delA
Protein change:
Q397fs
Links:
dbSNP: rs786204551
NCBI 1000 Genomes Browser:
rs786204551
Molecular consequence:
  • NM_000137.4:c.1190del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001374377.1:c.1190del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001374380.1:c.1190del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Tyrosinemia type I (TYRSN1)
Synonyms:
Tyrosinemia type 1; Hepatorenal tyrosinemia; FAH deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010161; MedGen: C0268490; Orphanet: 882; OMIM: 276700

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000220567Counsylcriteria provided, single submitter
Likely pathogenic
(Jul 31, 2014)
unknownliterature only

PubMed (2)
[See all records that cite these PMIDs]

Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015)

Citation Link

Summary from all submissions

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

Citations

PubMed

Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin.

Imtiaz F, Rashed MS, Al-Mubarak B, Allam R, El-Karaksy H, Al-Hassnan Z, Al-Owain M, Al-Zaidan H, Rahbeeni Z, Qari A, Meyer BF, Al-Sayed M.

Mol Genet Metab. 2011 Dec;104(4):688-90. doi: 10.1016/j.ymgme.2011.06.019. Epub 2011 Jun 30.

PubMed [citation]
PMID:
21764616

Crystal structure and mechanism of a carbon-carbon bond hydrolase.

Timm DE, Mueller HA, Bhanumoorthy P, Harp JM, Bunick GJ.

Structure. 1999 Sep 15;7(9):1023-33.

PubMed [citation]
PMID:
10508789

Details of each submission

From Counsyl, SCV000220567.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 25, 2021

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