LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0000081)
Patient ID RB327
Phenotype bilateral rb
Mut. origin germline
Tissue blood
Template DNA
tumor-genotype not reported
family history -
Reference Blanquet et al., 1995
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.153296G>C
cDNA change c.1903G>C   (View in UCSC Genome Browser, Ensembl)
Type substitution
Exon 19_ex
RNA change -
Protein p.Ala635Pro
RBWiki -
expected consequence type missense
DB-ID RB1_00142
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.153296G>C c.1903G>C substitution 19_ex - p.Ala635Pro - missense RB1_00142 -

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