NM_000137.3(FAH):c.401C>A (p.Ala134Asp) AND Tyrosinemia type I

Clinical significance:Likely pathogenic (Last evaluated: Jul 31, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000012641.3

Allele description [Variation Report for NM_000137.3(FAH):c.401C>A (p.Ala134Asp)]

NM_000137.3(FAH):c.401C>A (p.Ala134Asp)

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.401C>A (p.Ala134Asp)
HGVS:
  • NC_000015.10:g.80162282C>A
  • NG_012833.1:g.14284C>A
  • NM_000137.3:c.401C>A
  • NP_000128.1:p.Ala134Asp
  • NC_000015.9:g.80454624C>A
  • NM_000137.2:c.401C>A
  • P16930:p.Ala134Asp
Protein change:
A134D; ALA134ASP
Links:
UniProtKB: P16930#VAR_005208; OMIM: 613871.0002; dbSNP: rs121965074
NCBI 1000 Genomes Browser:
rs121965074
Molecular consequence:
  • NM_000137.3:c.401C>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000032876OMIMno assertion criteria providedPathogenic
(Jul 1, 1993)
germlineliterature only

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

SCV000793184Counsylcriteria provided, single submitter
Likely pathogenic
(Jul 31, 2017)
unknownclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

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

Fumarylacetoacetase mutations in tyrosinaemia type I.

Rootwelt H, Høie K, Berger R, Kvittingen EA.

Hum Mutat. 1996;7(3):239-43.

PubMed [citation]
PMID:
8829657
See all PubMed Citations (4)

Details of each submission

From OMIM, SCV000032876.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a patient with type I hereditary tyrosinemia (TYRSN1; 276700) and very low FAH enzymatic activity in the liver, Labelle et al. (1993) found heterozygosity for an ala134-to-asp (A134D) mutation in the FAH gene. The nature of the other allele was not identified.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

From Counsyl, SCV000793184.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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