LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002493)
Patient ID RB-A
Phenotype retinoblastoma
Mut. origin unknown
Tissue nd
Template DNA
tumor-genotype -
family history familial
Reference -
# Reported 1
Published -
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.59703_59704insAG
cDNA change c.771_772insAG   (View in UCSC Genome Browser, Ensembl)
Type Insertion
Exon 08_ex
RNA change -
Protein -
RBWiki -
expected consequence type unknown
DB-ID RB1_01425
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.59703_59704insAG c.771_772insAG Insertion 08_ex - - - unknown RB1_01425 -

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