LOVD - Variant listings for RB1

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Patient data (#0001732)
Patient ID Fam669
Phenotype bilateral rb
Mut. origin germline
Tissue nd
Template DNA
tumor-genotype -
family history familial
Reference not reported, BL Gallie - Toronto
# Reported 1
Published unpublished
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.2196G>C
cDNA change c.137G>C   (View in UCSC Genome Browser, Ensembl)
Type substitution
Exon 01_ex
RNA change -
Protein p.Arg46Thr/splice
RBWiki Arg46Thr/splice
expected consequence type missense-splice
DB-ID RB1_00620
originated_in -

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.2196G>C c.137G>C substitution 01_ex - p.Arg46Thr/splice Arg46Thr/splice missense-splice RB1_00620 -

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