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NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln) AND ABCB4-related disorders

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV000709935.2

Allele description [Variation Report for NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln)]

NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln)

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.1769G>A (p.Arg590Gln)
HGVS:
  • NC_000007.14:g.87431528C>T
  • NG_007118.2:g.53905G>A
  • NM_000443.4:c.1769G>AMANE SELECT
  • NM_018849.3:c.1769G>A
  • NM_018850.3:c.1769G>A
  • NP_000434.1:p.Arg590Gln
  • NP_061337.1:p.Arg590Gln
  • NP_061338.1:p.Arg590Gln
  • NP_061338.1:p.Arg590Gln
  • NC_000007.13:g.87060844C>T
  • NM_000443.3:c.1769G>A
  • NM_018850.2:c.1769G>A
  • P21439:p.Arg590Gln
Protein change:
R590Q; ARG590GLN
Links:
UniProtKB: P21439#VAR_043095; OMIM: 171060.0012; dbSNP: rs45575636
NCBI 1000 Genomes Browser:
rs45575636
Molecular consequence:
  • NM_000443.4:c.1769G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018849.3:c.1769G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018850.3:c.1769G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
ABCB4-related disorders
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000840292GenomeConnect, ClinGen
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV000840292.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providedvalidationnot providednot providednot providednot provided

Last Updated: Apr 15, 2024