LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0003312)
Patient ID P_20140723_20
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Published unpublished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.2099dup
cDNA change c.40dup   (View in UCSC Genome Browser, Ensembl)
Type Insertion
Exon 1_ex
RNA change -
Protein p.(Ala14Glyfs*17)
RBWiki -
expected consequence type frameshift
DB-ID RB1_02017
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.2099dup c.40dup Insertion 1_ex - p.(Ala14Glyfs*17) - frameshift RB1_02017 germline

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