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NM_000506.5(F2):c.1726-59G>A AND Thrombophilia due to thrombin defect

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:
RCV000133511.3

Allele description [Variation Report for NM_000506.5(F2):c.1726-59G>A]

NM_000506.5(F2):c.1726-59G>A

Gene:
F2:coagulation factor II, thrombin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p11.2
Genomic location:
Preferred name:
NM_000506.5(F2):c.1726-59G>A
Other names:
19911A>G
HGVS:
  • NC_000011.10:g.46739206G>A
  • NG_008953.1:g.25014G>A
  • NM_000506.5:c.1726-59G>AMANE SELECT
  • LRG_551t1:c.1726-59G>A
  • LRG_551:g.25014G>A
  • NC_000011.9:g.46760756G>A
  • NM_000506.3:c.1726-59G>A
  • NM_000506.4:c.1726-59G>A
Links:
dbSNP: rs3136516
NCBI 1000 Genomes Browser:
rs3136516
Molecular consequence:
  • NM_000506.5:c.1726-59G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Thrombophilia due to thrombin defect (THPH1)
Synonyms:
Thrombosis susceptibility; THROMBOPHILIA DUE TO FACTOR 2 DEFECT; Prothrombin-Related Thrombophilia (Factor II)
Identifiers:
MONDO: MONDO:0008559; MedGen: C3160733; OMIM: 188050

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000188586GeneReviews
no classification provided
not providedgermlineliterature only

Summary from all submissions

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

Details of each submission

From GeneReviews, SCV000188586.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024