LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0000182)
Patient ID E511T
Phenotype unilateral rb
Mut. origin somatic
Tissue retinoblastoma
Template DNA
tumor-genotype -
family history isolated
Reference Lohmann et al., 1997, Germany:Essen
# Reported 1
Published published
Remarks -
Submitter Dietmar Lohmann

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.41956A>T
cDNA change c.411A>T   (View in UCSC Genome Browser, Ensembl)
Type substitution
Exon 04_ex
RNA change -
Protein p.Glu137Asp
RBWiki Glu137Asp
expected consequence type missense
DB-ID RB1_00050
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.41956A>T c.411A>T substitution 04_ex - p.Glu137Asp Glu137Asp missense RB1_00050 -

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