LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0003432)
Patient ID #3812/16
Phenotype unilateral rb
Mut. origin -
Tissue blood
Template DNA
tumor-genotype -
family history familial low penetrance
Reference Italy:Siena
# Reported 1
Published published
Remarks partial inactivation of pRb activity.
Hypomorphic mutation and parental of origin effect
Submitter Alessandra Renieri

Variant data
Allele Paternal (inferred)
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.156713C>T
cDNA change c.1981C>T
Type substitution
Exon 20_ex
RNA change -
Protein p.Arg661Trp
RBWiki -
expected consequence type missense
DB-ID RB1_00019
originated_in germline

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
?/? Paternal (inferred) g.156713C>T c.1981C>T substitution 20_ex - p.Arg661Trp - missense RB1_00019 germline

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