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NM_000137.4(FAH):c.461_491del (p.His154fs) AND Tyrosinemia type I

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 22, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000412142.2

Allele description [Variation Report for NM_000137.4(FAH):c.461_491del (p.His154fs)]

NM_000137.4(FAH):c.461_491del (p.His154fs)

Gene:
FAH:fumarylacetoacetate hydrolase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
15q25.1
Genomic location:
Preferred name:
NM_000137.4(FAH):c.461_491del (p.His154fs)
HGVS:
  • NC_000015.10:g.80168057_80168087del
  • NG_012833.1:g.20059_20089del
  • NM_000137.4:c.461_491delMANE SELECT
  • NM_001374377.1:c.461_491del
  • NM_001374380.1:c.461_491del
  • NP_000128.1:p.His154fs
  • NP_001361306.1:p.His154fs
  • NP_001361309.1:p.His154fs
  • NC_000015.9:g.80460399_80460429del
  • NM_000137.2:c.461_491del31
Protein change:
H154fs
Links:
dbSNP: rs1057516684
NCBI 1000 Genomes Browser:
rs1057516684
Molecular consequence:
  • NM_000137.4:c.461_491del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001374377.1:c.461_491del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001374380.1:c.461_491del - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000486063Counsyl
criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))		Likely pathogenic
(Mar 22, 2016) 		unknownclinical testing

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

Citation Link

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Summary from all submissions

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

Details of each submission

From Counsyl, SCV000486063.2

#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: Dec 24, 2022