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NM_000088.4(COL1A1):c.4386del (p.Phe1463fs) AND Osteogenesis imperfecta type I

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV000490685.1

Allele description [Variation Report for NM_000088.4(COL1A1):c.4386del (p.Phe1463fs)]

NM_000088.4(COL1A1):c.4386del (p.Phe1463fs)

Gene:
COL1A1:collagen type I alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q21.33
Genomic location:
Preferred name:
NM_000088.4(COL1A1):c.4386del (p.Phe1463fs)
HGVS:
  • NC_000017.11:g.50185511del
  • NG_007400.1:g.21129del
  • NM_000088.4:c.4386delMANE SELECT
  • NP_000079.2:p.Phe1463fs
  • LRG_1t1:c.4386del
  • LRG_1:g.21129del
  • LRG_1p1:p.Phe1463fs
  • NC_000017.10:g.48262872del
  • NM_000088.3:c.4386delC
Protein change:
F1463fs
Links:
dbSNP: rs1114167406
NCBI 1000 Genomes Browser:
rs1114167406
Molecular consequence:
  • NM_000088.4:c.4386del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Osteogenesis imperfecta type I (OI1)
Synonyms:
OI, TYPE I; Osteogenesis imperfecta type 1; OI type 1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008146; MedGen: C0023931; Orphanet: 666; OMIM: 166200

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000574633Department of Medical Sciences, Uppsala University

See additional submitters

no assertion criteria provided
Pathogenicpaternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyes1not providednot provided1not providedclinical testing

Citations

PubMed

Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.

Lindahl K, Åström E, Rubin CJ, Grigelioniene G, Malmgren B, Ljunggren Ö, Kindmark A.

Eur J Hum Genet. 2015 Aug;23(8):1042-50. doi: 10.1038/ejhg.2015.81. Epub 2015 May 6. Erratum in: Eur J Hum Genet. 2015 Aug;23(8):1112. doi: 10.1038/ejhg.2015.129.

PubMed [citation]
PMID:
25944380
PMCID:
PMC4795106

Details of each submission

From Department of Medical Sciences, Uppsala University, SCV000574633.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyes1not providednot provided1not providednot providednot provided

Last Updated: Feb 13, 2023