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NM_001110556.2(FLNA):c.5407G>A (p.Glu1803Lys) AND Macrothrombocytopenia

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:
RCV001729813.2

Allele description [Variation Report for NM_001110556.2(FLNA):c.5407G>A (p.Glu1803Lys)]

NM_001110556.2(FLNA):c.5407G>A (p.Glu1803Lys)

Gene:
FLNA:filamin A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001110556.2(FLNA):c.5407G>A (p.Glu1803Lys)
HGVS:
  • NC_000023.11:g.154354390C>T
  • NG_011506.2:g.25249G>A
  • NM_001110556.2:c.5407G>AMANE SELECT
  • NM_001456.4:c.5383G>A
  • NP_001104026.1:p.Glu1803Lys
  • NP_001447.2:p.Glu1795Lys
  • NP_001447.2:p.Glu1795Lys
  • LRG_1340t1:c.5407G>A
  • LRG_1340:g.25249G>A
  • LRG_1340p1:p.Glu1803Lys
  • NC_000023.10:g.153582758C>T
  • NM_001456.3:c.5383G>A
  • NM_001456.4:c.5383G>A
Protein change:
E1795K
Links:
dbSNP: rs368750879
NCBI 1000 Genomes Browser:
rs368750879
Molecular consequence:
  • NM_001110556.2:c.5407G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001456.4:c.5383G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Macrothrombocytopenia
Identifiers:
MedGen: C2751260; Human Phenotype Ontology: HP:0040185

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001977125GeneReviews
no classification provided
not providedgermlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome.

Nurden P, Debili N, Coupry I, Bryckaert M, Youlyouz-Marfak I, Solé G, Pons AC, Berrou E, Adam F, Kauskot A, Lamazière JM, Rameau P, Fergelot P, Rooryck C, Cailley D, Arveiler B, Lacombe D, Vainchenker W, Nurden A, Goizet C.

Blood. 2011 Nov 24;118(22):5928-37. doi: 10.1182/blood-2011-07-365601. Epub 2011 Sep 29.

PubMed [citation]
PMID:
21960593

Details of each submission

From GeneReviews, SCV001977125.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Reported in 1 older female w/isolated macrothrombocytopenia [Nurden et al 2011]

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 15, 2024