LOVD - Variant listings for OCRL

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Patient data (#0000195)
Patient ID 00ls03
Age at Phenodex -
Phenodex Summary -
Skin -
Eye -
Gastro -
Vascular -
Cardiac -
Ethnicity French Canadian
# Reported 1

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
DB-ID OCRL_00026
Location Exon
Exon 14
Mutation Type Missense
DNA change (HGVS) 1369C>G   (View in UCSC Genome Browser, Ensembl)
DNA Change_Alias 1318C>G
DNA published -
DNA change (HGVS notation) NM_000276.3:c.1369C>G
Protein Alteration (AA) R457G
Protein Alteration AA Alias R440G
Protein change (HGVS) no fs
OMIM Allelic Variant -
mRNA Detected Present
Enzyme Assay Deficient
Western Blot N/A
Family History Yes
Affected Relatives Three uncles
Congenital Cataracts Yes
Developmental Delay Yes
Fanconi syndrome Yes
Referring Investigator Monnier/Lunardi
Referring Laboratory CHU Grenoble, France
Additional References for this Monnier, unpublished data
RNA change -

1 entry in OCRL

Path.
Allele Descending
Ascending
DB-ID Descending
Ascending
Location Descending
Ascending
Exon Descending
Ascending
Mutation Type Descending
Ascending
DNA change (HGVS) Descending
Ascending
DNA Change_Alias Descending
Ascending
DNA published Descending
Ascending
DNA change (HGVS notation) Descending
Ascending
Protein Alteration (AA) Descending
Ascending
Protein Alteration AA Alias Descending
Ascending
Protein change (HGVS) Descending
Ascending
OMIM Allelic Variant Descending
Ascending
mRNA Detected Descending
Ascending
Enzyme Assay Descending
Ascending
Western Blot Descending
Ascending
Family History Descending
Ascending
Affected Relatives Descending
Ascending
Congenital Cataracts Descending
Ascending
Developmental Delay Descending
Ascending
Fanconi syndrome Descending
Ascending
Referring Investigator Descending
Ascending
Referring Laboratory Descending
Ascending
Additional References for this Descending
Ascending
RNA change Descending
Ascending
?/? Unknown OCRL_00026 Exon 14 Missense 1369C>G 1318C>G - NM_000276.3:c.1369C>G R457G R440G no fs - Present Deficient N/A Yes Three uncles Yes Yes Yes Monnier/Lunardi CHU Grenoble, France Monnier, unpublished data -