LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0003145)
Patient ID #2226
Phenotype bilateral rb
Mut. origin germline
Tissue blood
Template DNA
tumor-genotype unknown
family history familial
Reference Gallie:Toronto
# Reported 1
Published unpublished
Remarks Patient is heterozygous for a frameshift alteration and for two missense alterations.
Submitter Diane Rushlow

Variant data
Allele Unknown
Reported pathogenicity Probably no pathogenicity
Concluded pathogenicity Probably no pathogenicity
g-position -
cDNA change c.1876G>A   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Exon 19_ex
RNA change -
Protein p.Ala626Thr
RBWiki -
expected consequence type missense
DB-ID RB1_01873
originated_in unknown

4 entries 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
+/+ Maternal (inferred) - c.1693_1694dup Insertion 17_ex - p.(Asp566Glnfs*46) - frameshift RB1_01872 germline
-?/-? Unknown - c.1815-5T>C Substitution 18_in - - - variant RB1_01874 unknown
-?/-? Unknown - c.1876G>A Substitution 19_ex - p.Ala626Thr - missense RB1_01873 unknown
-?/-? Unknown g.156698C>T c.1966C>T substitution 20_ex - p.Arg656Trp - missense RB1_00403 unknown

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