NM_000096.3(CP):c.2684G>C (p.Gly895Ala) AND Deficiency of ferroxidase

Clinical significance:Pathogenic (Last evaluated: Apr 18, 2013)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000034882.1

Allele description

NM_000096.3(CP):c.2684G>C (p.Gly895Ala)

Gene:
CP:ceruloplasmin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q24
Genomic location:
Preferred name:
NM_000096.3(CP):c.2684G>C (p.Gly895Ala)
HGVS:
  • NC_000003.12:g.149178609C>G
  • NG_011800.2:g.48437G>C
  • NM_000096.3:c.2684G>C
  • NP_000087.1:p.Gly895Ala
  • NC_000003.11:g.148896396C>G
  • NR_046371.1:n.2724G>C
Nucleotide change:
G876A
Protein change:
G895A
Links:
dbSNP: rs139633388
GMAF:
0.0008(G), 139633388
NCBI 1000 Genomes Browser:
rs139633388
Allele Frequency:
0.0014, GO-ESP
Molecular consequence:
  • NM_000096.3:c.2684G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_046371.1:n.2724G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Deficiency of ferroxidase
Synonyms:
Aceruloplasminemia
Identifiers:
MedGen: C0878682; Orphanet: 48818; OMIM: 604290

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000058488GeneReviewsno assertion criteria providedpathologic
(Apr 18, 2013)
not providedcuration

Summary from all submissions

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

Details of each submission

From GeneReviews, SCV000058488.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Apr 2, 2018