LOVD - Variant listings for RB1

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Patient data (#0001388)
Patient ID E3221
Phenotype bilateral rb
Mut. origin -
Tissue nd
Template DNA
tumor-genotype -
family history isolated
Reference Lohmann - Essen
# Reported 1
Published unpublished
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Pathogenic
g-position g.39542C>T
cDNA change c.361C>T   (View in UCSC Genome Browser, Ensembl)
Type substitution
Exon 03_ex
RNA change -
Protein p.Gln121X
RBWiki -
expected consequence type nonsense
DB-ID RB1_00440
originated_in unknown

1 entry in RB1

Path.
Allele Descending
Ascending
g-position Descending
Ascending
cDNA change Descending
Ascending
Type Descending
Ascending
Exon Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
RBWiki Descending
Ascending
expected consequence type Descending
Ascending
DB-ID Descending
Ascending
originated_in Descending
Ascending
?/+ Unknown g.39542C>T c.361C>T substitution 03_ex - p.Gln121X - nonsense RB1_00440 unknown

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