NM_001110556.2(FLNA):c.3876C>T (p.His1292=) AND not provided

Clinical significance:Benign (Last evaluated: Jun 26, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000757311.3

Allele description [Variation Report for NM_001110556.2(FLNA):c.3876C>T (p.His1292=)]

NM_001110556.2(FLNA):c.3876C>T (p.His1292=)

Gene:
FLNA:filamin A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001110556.2(FLNA):c.3876C>T (p.His1292=)
Other names:
p.H1292H:CAC>CAT
HGVS:
  • NC_000023.11:g.154359835G>A
  • NG_011506.1:g.19804C>T
  • NG_011506.2:g.19804C>T
  • NM_001110556.2:c.3876C>TMANE SELECT
  • NM_001456.3:c.3876C>T
  • NP_001104026.1:p.His1292=
  • NP_001447.2:p.His1292=
  • LRG_1340t1:c.3876C>T
  • LRG_1340:g.19804C>T
  • LRG_1340p1:p.His1292=
  • NC_000023.10:g.153588203G>A
  • p.His1292His
Links:
dbSNP: rs199917719
NCBI 1000 Genomes Browser:
rs199917719
Molecular consequence:
  • NM_001110556.2:c.3876C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001456.3:c.3876C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000885481ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Benign
(Jun 26, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV000885481.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 14, 2021

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