NM_000137.3(FAH):c.607-1G>A AND Tyrosinemia type I

Clinical significance:Likely pathogenic (Last evaluated: Apr 9, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000169069.1

Allele description [Variation Report for NM_000137.3(FAH):c.607-1G>A]

NM_000137.3(FAH):c.607-1G>A

Gene:
FAH:fumarylacetoacetate hydrolase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q25.1
Genomic location:
Preferred name:
NM_000137.3(FAH):c.607-1G>A
HGVS:
  • NC_000015.10:g.80172148G>A
  • NG_012833.1:g.24150G>A
  • NM_000137.3:c.607-1G>A
  • NC_000015.9:g.80464490G>A
  • NM_000137.2:c.607-1G>A
Links:
dbSNP: rs771712041
NCBI 1000 Genomes Browser:
rs771712041
Molecular consequence:
  • NM_000137.3:c.607-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

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
SCV000220234Counsylcriteria provided, single submitter
Likely pathogenic
(Apr 9, 2014)
unknownliterature only

PubMed (1)
[See all records that cite this PMID]

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

Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship.

Ploos van Amstel JK, Bergman AJ, van Beurden EA, Roijers JF, Peelen T, van den Berg IE, Poll-The BT, Kvittingen EA, Berger R.

Hum Genet. 1996 Jan;97(1):51-9.

PubMed [citation]
PMID:
8557261

Details of each submission

From Counsyl, SCV000220234.1

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

Last Updated: Oct 7, 2021

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