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NM_000477.7(ALB):c.1428+2T>C AND Analbuminemia

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:
RCV000144395.1

Allele description [Variation Report for NM_000477.7(ALB):c.1428+2T>C]

NM_000477.7(ALB):c.1428+2T>C

Gene:
ALB:albumin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q13.3
Genomic location:
Preferred name:
NM_000477.7(ALB):c.1428+2T>C
HGVS:
  • NC_000004.12:g.73417671T>C
  • NG_009291.1:g.18417T>C
  • NM_000477.7:c.1428+2T>CMANE SELECT
  • NC_000004.11:g.74283388T>C
  • NM_000477.3:c.1428+2T>C
Links:
dbSNP: rs78784172
NCBI 1000 Genomes Browser:
rs78784172
Molecular consequence:
  • NM_000477.7:c.1428+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Analbuminemia (ANALBA)
Synonyms:
Analbuminemia, American Indian type; Analbuminemia, Vancouver
Identifiers:
MedGen: C0878666; Orphanet: 86816; OMIM: 616000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000189450ClinVar Staff, National Center for Biotechnology Information (NCBI)
no classification provided
not providedunknownnot provided

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownnot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

Analbuminemia produced by a novel splicing mutation.

Dolcini L, Caridi G, Dagnino M, Sala A, Gökçe S, Sökücü S, Campagnoli M, Galliano M, Minchiotti L.

Clin Chem. 2007 Aug;53(8):1549-52.

PubMed [citation]
PMID:
17644793

Details of each submission

From ClinVar Staff, National Center for Biotechnology Information (NCBI), SCV000189450.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Jun 9, 2024