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NM_001159699.2(FHL1):c.737-9dup AND not provided

Germline classification:
Likely benign (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV001572699.1

Allele description [Variation Report for NM_001159699.2(FHL1):c.737-9dup]

NM_001159699.2(FHL1):c.737-9dup

Gene:
FHL1:four and a half LIM domains 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
Xq26.3
Genomic location:
Preferred name:
NM_001159699.2(FHL1):c.737-9dup
HGVS:
  • NC_000023.11:g.136209862dup
  • NG_015895.1:g.67463dup
  • NM_001159699.2:c.737-9dupMANE SELECT
  • NM_001159700.2:c.689-9dup
  • NM_001159701.2:c.776-9dup
  • NM_001159702.3:c.889-9dup
  • NM_001159703.2:c.502-9dup
  • NM_001159704.1:c.689-9dup
  • NM_001167819.1:c.689-9dup
  • NM_001330659.2:c.550-9dup
  • NM_001369326.1:c.889-9dup
  • NM_001369327.2:c.889-9dup
  • NM_001369328.1:c.889-9dup
  • NM_001369329.1:c.689-9dup
  • NM_001369330.1:c.689-9dup
  • NM_001369331.1:c.689-9dup
  • NM_001449.5:c.689-9dup
  • LRG_739t1:c.737-9dup
  • LRG_739t2:c.889-9dup
  • LRG_739:g.67463dup
  • NC_000023.10:g.135292012_135292013insT
  • NC_000023.10:g.135292021dup
Links:
dbSNP: rs374867802
NCBI 1000 Genomes Browser:
rs374867802
Molecular consequence:
  • NM_001159699.2:c.737-9dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001159700.2:c.689-9dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001159701.2:c.776-9dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001159702.3:c.889-9dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001159703.2:c.502-9dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001159704.1:c.689-9dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001167819.1:c.689-9dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330659.2:c.550-9dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369326.1:c.889-9dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369327.2:c.889-9dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369328.1:c.889-9dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369329.1:c.689-9dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369330.1:c.689-9dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369331.1:c.689-9dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001449.5:c.689-9dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001797466Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus
no assertion criteria provided
Likely benigngermlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV001797466.1

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

Last Updated: Sep 29, 2024