LOVD - Variant listings for OCRL

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Patient data (#0000216)
Patient ID Blank31
Age at Phenodex -
Phenodex Summary -
Skin -
Eye -
Gastro -
Vascular -
Cardiac -
Ethnicity
# Reported 1

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
DB-ID OCRL_00019
Location Exon
Exon 13
Mutation Type Missense
DNA change (HGVS) 1264G>A   (View in UCSC Genome Browser, Ensembl)
DNA Change_Alias 1213G>A
DNA published -
DNA change (HGVS notation) NM_000276.3:c.1264G>A
Protein Alteration (AA) D422N
Protein Alteration AA Alias D405N
Protein change (HGVS) no fs
OMIM Allelic Variant -
mRNA Detected N/A
Enzyme Assay N/A
Western Blot N/A
Family History N/A
Affected Relatives N/A
Congenital Cataracts N/A
Developmental Delay N/A
Fanconi syndrome N/A
Referring Investigator Benjamin Roa
Referring Laboratory Baylor College of Medicine
Additional References for this B. Roa, unpublished data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_00019 Exon 13 Missense 1264G>A 1213G>A - NM_000276.3:c.1264G>A D422N D405N no fs - N/A N/A N/A N/A N/A N/A N/A N/A Benjamin Roa Baylor College of Medicine B. Roa, unpublished data -