LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0001003)
Patient ID not provided
Phenotype bilateral rb
Mut. origin germline
Tissue blood
Template DNA
tumor-genotype -
family history isolated
Reference Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9.
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.150045A>C
cDNA change c.1733A>C   (View in UCSC Genome Browser, Ensembl)
Type substitution
Exon 18_ex
RNA change -
Protein p.Asp578Ala
RBWiki -
expected consequence type missense
DB-ID RB1_00708
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.150045A>C c.1733A>C substitution 18_ex - p.Asp578Ala - missense RB1_00708 -

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