U.S. flag

An official website of the United States government

NM_000477.7(ALB):c.1300C>T (p.Arg434Cys) AND Alloalbuminemia

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:
RCV000144394.1

Allele description [Variation Report for NM_000477.7(ALB):c.1300C>T (p.Arg434Cys)]

NM_000477.7(ALB):c.1300C>T (p.Arg434Cys)

Gene:
ALB:albumin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q13.3
Genomic location:
Preferred name:
NM_000477.7(ALB):c.1300C>T (p.Arg434Cys)
Other names:
albumin Liprizzi
HGVS:
  • NC_000004.12:g.73417541C>T
  • NG_009291.1:g.18287C>T
  • NM_000477.7:c.1300C>TMANE SELECT
  • NP_000468.1:p.Arg434Cys
  • NC_000004.11:g.74283258C>T
  • NM_000477.3:c.1300C>T
  • P02768:p.Arg434Cys
Protein change:
R434C
Links:
UniProtKB: P02768#VAR_013017; dbSNP: rs78575701
NCBI 1000 Genomes Browser:
rs78575701
Molecular consequence:
  • NM_000477.7:c.1300C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Alloalbuminemia
Identifiers:
MedGen: CN220290

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000189449ClinVar Staff, National Center for Biotechnology Information (NCBI)
no classification provided
not providedunknownnot provided

PubMed (3)
[See all records that cite these PMIDs]

Description

High S-nitrosylation

SCV000189449

Help

Summary from all submissions

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

Citations

PubMed

Genetic variants of human serum albumin: molecular defects and biological stability.

Galliano M, Rossi A, Porta F, Minchiotti L.

Int J Clin Pharmacol Res. 1995;15(2):45-55.

PubMed [citation]
PMID:
8593973

Structural characterization of three genetic variants of human serum albumin modified in subdomains IIB and IIIA.

Galliano M, Watkins S, Madison J, Putnam FW, Kragh-Hansen U, Cesati R, Minchiotti L.

Eur J Biochem. 1998 Jan 15;251(1-2):329-34.

PubMed [citation]
PMID:
9492301
See all PubMed Citations (3)

Details of each submission

From ClinVar Staff, National Center for Biotechnology Information (NCBI), SCV000189449.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022