NM_001844.5(COL2A1):c.1999C>T (p.Leu667Phe) AND Stickler syndrome type 1

Clinical significance:Pathogenic (Last evaluated: May 6, 2021)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000144727.2

Allele description [Variation Report for NM_001844.5(COL2A1):c.1999C>T (p.Leu667Phe)]

NM_001844.5(COL2A1):c.1999C>T (p.Leu667Phe)

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.1999C>T (p.Leu667Phe)
Other names:
L467F
HGVS:
  • NC_000012.12:g.47983435G>A
  • NG_008072.1:g.26068C>T
  • NM_001844.5:c.1999C>TMANE SELECT
  • NM_033150.3:c.1792C>T
  • NP_001835.3:p.Leu667Phe
  • NP_149162.2:p.Leu598Phe
  • NC_000012.11:g.48377218G>A
  • NM_001844.4:c.1999C>T
  • P02458:p.Leu667Phe
  • p.Leu467Phe
Protein change:
L598F; LEU467PHE
Links:
UniProtKB: P02458#VAR_023928; OMIM: 120140.0034; dbSNP: rs121912885
NCBI 1000 Genomes Browser:
rs121912885
Molecular consequence:
  • NM_001844.5:c.1999C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033150.3:c.1792C>T - 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
SCV000190934GeneReviewsno assertion criteria providedPathogenic
(May 6, 2021)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Stickler Syndrome.

Robin NH, Moran RT, Ala-Kokko L.

2000 Jun 9 [updated 2021 May 6]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022.

PubMed [citation]
PMID:
20301479

Details of each submission

From GeneReviews, SCV000190934.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 22, 2022

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