NM_000137.3(FAH):c.14del (p.Pro5fs) AND Tyrosinemia type I

Clinical significance:Likely pathogenic (Last evaluated: Oct 11, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000410365.1

Allele description [Variation Report for NM_000137.3(FAH):c.14del (p.Pro5fs)]

NM_000137.3(FAH):c.14del (p.Pro5fs)

Gene:
FAH:fumarylacetoacetate hydrolase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
15q25.1
Genomic location:
Preferred name:
NM_000137.3(FAH):c.14del (p.Pro5fs)
HGVS:
  • NC_000015.10:g.80153068del
  • NG_012833.1:g.5070del
  • NM_000137.3:c.14del
  • NP_000128.1:p.Pro5fs
  • NC_000015.9:g.80445410del
  • NM_000137.2:c.14delC
Protein change:
P5fs
Links:
dbSNP: rs1057517341
NCBI 1000 Genomes Browser:
rs1057517341
Molecular consequence:
  • NM_000137.3:c.14del - 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
SCV000487132Counsylcriteria provided, single submitter
Likely pathogenic
(Oct 11, 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, SCV000487132.1

#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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