LOVD - Variant listings for RB1

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Patient data (#0002559)
Patient ID 14 254
Phenotype bilateral rb
Mut. origin unknown
Tissue nd
Template DNA
tumor-genotype unknown
family history unknown
Reference Munier - Lausanne
# Reported 1
Published -
Remarks Mutation found in father

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.61797G>A
cDNA change c.929G>A   (View in UCSC Genome Browser, Ensembl)
Type substitution
Exon 09_ex
RNA change -
Protein p.Gly310Glu
RBWiki -
expected consequence type missense variant
DB-ID RB1_00070
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.61797G>A c.929G>A substitution 09_ex - p.Gly310Glu - missense variant RB1_00070 unknown

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