LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0001182)
Patient ID E1745
Phenotype bilateral rb
Mut. origin germline
Tissue nd
Template DNA
tumor-genotype -
family history isolated
Reference Lohmann - Essen
# Reported 1
Published unpublished
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Pathogenic
g-position g._73829_73832dup
cDNA change c.1292_1295dup   (View in UCSC Genome Browser, Ensembl)
Type insertion
Exon 13_ex
RNA change -
Protein p.Lys432Asnfs*2
RBWiki -
expected consequence type frameshift
DB-ID RB1_00351
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._73829_73832dup c.1292_1295dup insertion 13_ex - p.Lys432Asnfs*2 - frameshift RB1_00351 germline

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