LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0003376)
Patient ID P_20140723_236
Phenotype bilateral rb
Mut. origin germline
Tissue blood
Template DNA
tumor-genotype unknown
family history isolated
Reference Houdayer - Paris
# Reported 1
Published unpublished
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.76444_76445del
cDNA change c.1347_1348del   (View in UCSC Genome Browser, Ensembl)
Type Deletion
Exon 14_ex
RNA change -
Protein p.(Val450Serfs*12)
RBWiki -
expected consequence type frameshift
DB-ID RB1_02065
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
?/? Unknown g.76444_76445del c.1347_1348del Deletion 14_ex - p.(Val450Serfs*12) - frameshift RB1_02065 germline

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