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NM_005576.4(LOXL1):c.1102+1976T>C

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Interpretation:
risk factor​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
May 1, 2009
Accession:
VCV000014362.1
Variation ID:
14362
Description:
single nucleotide variant
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NM_005576.4(LOXL1):c.1102+1976T>C

Allele ID
29401
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q24.1
Genomic location
15: 73929861 (GRCh38) GRCh38 UCSC
15: 74222202 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.73929861T>C
NC_000015.9:g.74222202T>C
NM_005576.4:c.1102+1976T>C
NG_011466.1:g.8414T>C
Protein change
-
Other names
IVS1, C-T
Functional consequence
-
Global minor allele frequency (GMAF)
0.28714 (T)

Allele frequency
1000 Genomes Project 0.71286
The Genome Aggregation Database (gnomAD) 0.60178
Trans-Omics for Precision Medicine (TOPMed) 0.61661
Links
OMIM: 153456.0003
dbSNP: rs2165241
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Exfoliation syndrome, susceptibility to
risk factor 1 no assertion criteria provided May 1, 2009 RCV000015436.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
LOXL1 - - GRCh38
GRCh37
2 33

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
risk factor
(May 01, 2009)
no assertion criteria provided
Method: literature only
EXFOLIATION SYNDROME, SUSCEPTIBILITY TO
Allele origin: germline
OMIM
Accession: SCV000035701.1
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Association of LOXL1 gene with Finnish exfoliation syndrome patients. Lemmelä S Journal of human genetics 2009 PMID: 19343041

Record last updated Aug 30, 2019