NM_001844.5(COL2A1):c.4343C>G (p.Thr1448Ser) AND Stickler syndrome type 1

Clinical significance:Uncertain significance (Last evaluated: May 28, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000988817.1

Allele description [Variation Report for NM_001844.5(COL2A1):c.4343C>G (p.Thr1448Ser)]

NM_001844.5(COL2A1):c.4343C>G (p.Thr1448Ser)

Gene:
COL2A1:collagen type II alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.11
Genomic location:
Preferred name:
NM_001844.5(COL2A1):c.4343C>G (p.Thr1448Ser)
HGVS:
  • NC_000012.12:g.47973528G>C
  • NG_008072.1:g.35975C>G
  • NM_001844.5:c.4343C>GMANE SELECT
  • NM_033150.3:c.4136C>G
  • NP_001835.3:p.Thr1448Ser
  • NP_149162.2:p.Thr1379Ser
  • NC_000012.11:g.48367311G>C
Protein change:
T1379S
Links:
dbSNP: rs1481212897
NCBI 1000 Genomes Browser:
rs1481212897
Molecular consequence:
  • NM_001844.5:c.4343C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033150.3:c.4136C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Stickler syndrome type 1 (STL1)
Synonyms:
Stickler syndrome, vitreous type 1; Stickler syndrome, membranous vitreous type; Arthroophthalmopathy, hereditary progressive
Identifiers:
MONDO: MONDO:0007160; MedGen: C2020284; Orphanet: 828; OMIM: 108300

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001138702Mendelicscriteria provided, single submitter
Uncertain significance
(May 28, 2019)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Mendelics, SCV001138702.1

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

Last Updated: Nov 27, 2021

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