LOVD - Variant listings for RB1

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Patient data (#0002210)
Patient ID F5768
Phenotype rb
Mut. origin germline
Tissue blood
Template DNA
tumor-genotype -
family history familial
Reference Taylor et al. (2007) Hum Mutat 28: 284
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.1867T>G
cDNA change c.-193T>G   (View in UCSC Genome Browser, Ensembl)
Type substitution
Exon 00_up
RNA change -
Protein -
RBWiki -
expected consequence type promoter
DB-ID RB1_01294
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.1867T>G c.-193T>G substitution 00_up - - - promoter RB1_01294 -

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