NM_019616.4(F7):c.*846_*850CTTCA[1] AND Factor VII deficiency

Clinical significance:Uncertain significance (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000314976.2

Allele description [Variation Report for NM_019616.4(F7):c.*846_*850CTTCA[1]]

NM_019616.4(F7):c.*846_*850CTTCA[1]

Gene:
F7:coagulation factor VII [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
13q34
Genomic location:
Preferred name:
NM_019616.4(F7):c.*846_*850CTTCA[1]
HGVS:
  • NC_000013.11:g.113119854_113119858CTTCA[1]
  • NG_009258.1:g.2056_2060CTTCA[1]
  • NG_009262.1:g.19064_19068CTTCA[1]
  • NM_000131.4:c.*846_*850CTTCA[1]
  • NM_001267554.1:c.*846_*850CTTCA[1]
  • NM_019616.4:c.*846_*850CTTCA[1]MANE SELECT
  • LRG_554t1:c.*846_*850CTTCA[1]
  • LRG_548:g.2056_2060CTTCA[1]
  • LRG_554:g.19064_19068CTTCA[1]
  • NC_000013.10:g.113774168_113774172CTTCA[1]
  • NM_000131.4:c.*851_*855delCTTCA
  • NR_051961.2:n.2265_2269CTTCA[1]
Links:
dbSNP: rs886049998
NCBI 1000 Genomes Browser:
rs886049998
Molecular consequence:
  • NM_000131.4:c.*846_*850CTTCA[1] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001267554.1:c.*846_*850CTTCA[1] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_019616.4:c.*846_*850CTTCA[1] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NR_051961.2:n.2265_2269CTTCA[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Factor VII deficiency
Synonyms:
Factor 7 deficiency; F7 deficiency; Hypoproconvertinemia
Identifiers:
MedGen: C0015503; Orphanet: 327; OMIM: 227500

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000382768Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000382768.2

#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: Sep 29, 2021

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