LOVD - Variant listings for RB1

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Patient data (#0000930)
Patient ID not provided
Phenotype bilateral rb
Mut. origin germline
Tissue blood
Template DNA
tumor-genotype -
family history isolated
Reference Nichols et al. (2005) Hum Mutat 25(6): 566-74.
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.156698C>T
cDNA change c.1966C>T   (View in UCSC Genome Browser, Ensembl)
Type substitution
Exon 20_ex
RNA change -
Protein p.Arg656Trp
RBWiki -
expected consequence type missense
DB-ID RB1_00403
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.156698C>T c.1966C>T substitution 20_ex - p.Arg656Trp - missense RB1_00403 -

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