NM_001851.4(COL9A1):c.188delT (p.Phe63Serfs) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Aug 31, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000415882.1

Allele description [Variation Report for NM_001851.4(COL9A1):c.188delT (p.Phe63Serfs)]

NM_001851.4(COL9A1):c.188delT (p.Phe63Serfs)

Gene:
COL9A1:collagen type IX alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
6q13
Genomic location:
Preferred name:
NM_001851.4(COL9A1):c.188delT (p.Phe63Serfs)
HGVS:
  • NC_000006.12:g.70300154delA
  • NP_001842.3:p.Phe63Serfs
  • NC_000006.11:g.71009857delA
Links:
dbSNP: rs1057519130
NCBI 1000 Genomes Browser:
rs1057519130
Molecular consequence:
  • NM_001851.4:c.188del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000493270Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Likely pathogenic
(Aug 31, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Praxis fuer Humangenetik Tuebingen, SCV000493270.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Mar 30, 2019

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