LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0003352)
Patient ID Tab_1_28
Phenotype retinoblastoma
Mut. origin unknown
Tissue blood
Template DNA
tumor-genotype heterozygous
family history isolated
Reference Ming-yan He et al. 2014 Mol.vis.: 20:545-52
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Unknown
g-position -
cDNA change c.1468G>A   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Exon 16_ex
RNA change -
Protein p.(Ala490Thr)
RBWiki -
expected consequence type missense
DB-ID RB1_02044
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 - c.1468G>A Substitution 16_ex - p.(Ala490Thr) - missense RB1_02044 unknown

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