LOVD - Variant listings for OCRL

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Patient data (#0000160)
Patient ID TIT1
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_00143
Location Exon
Exon 18
Mutation Type Nonsense
DNA change (HGVS) 1987C>T   (View in UCSC Genome Browser, Ensembl)
DNA Change_Alias 1936C>T
DNA published -
DNA change (HGVS notation) NM_000276.3:c.1987C>T
Protein Alteration (AA) R663X
Protein Alteration AA Alias R646X
Protein change (HGVS) X
OMIM Allelic Variant -
mRNA Detected Not Done
Enzyme Assay N/A
Western Blot N/A
Family History No
Affected Relatives N/A
Congenital Cataracts Yes
Developmental Delay Yes
Fanconi syndrome Yes
Referring Investigator
Referring Laboratory
Additional References for this -
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_00143 Exon 18 Nonsense 1987C>T 1936C>T - NM_000276.3:c.1987C>T R663X R646X X - Not Done N/A N/A No N/A Yes Yes Yes - -