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NM_001844.5(COL2A1):c.1527+135G>A AND Stargardt disease

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 23, 2019
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:
RCV001002986.1

Allele description [Variation Report for NM_001844.5(COL2A1):c.1527+135G>A]

NM_001844.5(COL2A1):c.1527+135G>A

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.1527+135G>A
HGVS:
  • NC_000012.12:g.47986201C>T
  • NG_008072.1:g.23302G>A
  • NM_001844.5:c.1527+135G>AMANE SELECT
  • NM_033150.3:c.1320+135G>A
  • NC_000012.11:g.48379984C>T
  • NC_000012.11:g.48379984C>T
Links:
dbSNP: rs1592218346
NCBI 1000 Genomes Browser:
rs1592218346
Molecular consequence:
  • NM_001844.5:c.1527+135G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_033150.3:c.1320+135G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Stargardt disease (FFM)
Synonyms:
Stargardt's disease; Fundus flavimaculatus
Identifiers:
MONDO: MONDO:0019353; MedGen: C0271093; Orphanet: 827

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001161040Sharon lab, Hadassah-Hebrew University Medical Center
no assertion criteria provided
Pathogenic
(Jun 23, 2019) 		inheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Sharon lab, Hadassah-Hebrew University Medical Center, SCV001161040.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024