LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0000358)
Patient ID E1
Phenotype bilateral rb
Mut. origin germline
Tissue blood
Template DNA
tumor-genotype -
family history isolated
Reference Yilmaz et al., 1998
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Pathogenic
g-position g.39538insACTTT
cDNA change c.357_358insACTTT   (View in UCSC Genome Browser, Ensembl)
Type insertion
Exon 03_ex
RNA change -
Protein p.Leu120Thrfs*7
RBWiki -
expected consequence type frameshift
DB-ID RB1_00043
originated_in unknown

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.39538insACTTT c.357_358insACTTT insertion 03_ex - p.Leu120Thrfs*7 - frameshift RB1_00043 unknown

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