NM_000443.4(ABCB4):c.1322T>G (p.Leu441Arg) AND Cholestasis, progressive familial intrahepatic 1

Clinical significance:Likely pathogenic (Last evaluated: May 28, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000987914.1

Allele description [Variation Report for NM_000443.4(ABCB4):c.1322T>G (p.Leu441Arg)]

NM_000443.4(ABCB4):c.1322T>G (p.Leu441Arg)

Gene:
ABCB4:ATP binding cassette subfamily B member 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q21.12
Genomic location:
Preferred name:
NM_000443.4(ABCB4):c.1322T>G (p.Leu441Arg)
HGVS:
  • NC_000007.14:g.87443353A>C
  • NG_007118.1:g.42080T>G
  • NG_007118.2:g.42080T>G
  • NM_000443.4:c.1322T>GMANE SELECT
  • NM_018849.3:c.1322T>G
  • NM_018850.2:c.1322T>G
  • NP_000434.1:p.Leu441Arg
  • NP_061337.1:p.Leu441Arg
  • NP_061338.1:p.Leu441Arg
  • NC_000007.13:g.87072669A>C
Protein change:
L441R
Links:
dbSNP: rs1584747270
NCBI 1000 Genomes Browser:
rs1584747270
Molecular consequence:
  • NM_000443.4:c.1322T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018849.3:c.1322T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018850.2:c.1322T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cholestasis, progressive familial intrahepatic 1 (PFIC1)
Synonyms:
Byler's disease; Byler disease
Identifiers:
MONDO: MONDO:0008892; MedGen: C4551898; Orphanet: 79306; OMIM: 211600

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001137407Mendelicscriteria provided, single submitter
Likely pathogenic
(May 28, 2019)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Mendelics, SCV001137407.1

#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: Jun 27, 2020

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