NM_000132.3(F8):c.6724G>A (p.Val2242Met) AND not provided

Clinical significance:Uncertain significance (Last evaluated: May 1, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001310760.2

Allele description [Variation Report for NM_000132.3(F8):c.6724G>A (p.Val2242Met)]

NM_000132.3(F8):c.6724G>A (p.Val2242Met)

Gene:
F8:coagulation factor VIII [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_000132.3(F8):c.6724G>A (p.Val2242Met)
HGVS:
  • NC_000023.11:g.154860608C>T
  • NG_011403.1:g.167116G>A
  • NM_000132.3:c.6724G>A
  • NM_019863.2:c.319G>A
  • NP_000123.1:p.Val2242Met
  • NP_063916.1:p.Val107Met
  • NC_000023.10:g.154088883C>T
Protein change:
V107M
Links:
dbSNP: rs782654096
NCBI 1000 Genomes Browser:
rs782654096
Molecular consequence:
  • NM_000132.3:c.6724G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_019863.2:c.319G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001500684CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Uncertain significance
(May 1, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes3not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001500684.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided

Last Updated: Jul 10, 2021

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