NM_001848.2(COL6A1):c.1425del (p.Gly476fs) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Dec 1, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000228165.2

Allele description [Variation Report for NM_001848.2(COL6A1):c.1425del (p.Gly476fs)]

NM_001848.2(COL6A1):c.1425del (p.Gly476fs)

Gene:
COL6A1:collagen type VI alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
21q22.3
Genomic location:
Preferred name:
NM_001848.2(COL6A1):c.1425del (p.Gly476fs)
HGVS:
  • NC_000021.9:g.45997447del
  • NG_008674.1:g.20699del
  • LRG_475t1:c.1425del
  • LRG_475:g.20699del
  • LRG_475p1:p.Gly476fs
  • NC_000021.8:g.47417361del
  • NM_001848.2:c.1425delA
  • p.Gly476Alafs*29
Links:
dbSNP: rs878854398
NCBI 1000 Genomes Browser:
rs878854398

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000265828Center for Genetic Medicine Research,Children's National Medical Centercriteria provided, single submitter
Uncertain significance
(Dec 1, 2015)
unknownresearch

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

Punetha J, Kesari A, Uapinyoying P, Giri M, Clarke NF, Waddell LB, North KN, Ghaoui R, O'Grady GL, Oates EC, Sandaradura SA, Bönnemann CG, Donkervoort S, Plotz PH, Smith EC, Tesi-Rocha C, Bertorini TE, Tarnopolsky MA, Reitter B, Hausmanowa-Petrusewicz I, Hoffman EP.

J Neuromuscul Dis. 2016 May 27;3(2):209-225.

PubMed [citation]
PMID:
27854218

Details of each submission

From Center for Genetic Medicine Research,Children's National Medical Center, SCV000265828.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2021

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