LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0001950)
Patient ID not provided
Phenotype no cancer
Mut. origin germline
Tissue blood
Template DNA
tumor-genotype -
family history -
Reference Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409.
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.1328A>C
cDNA change c.-732A>C   (View in UCSC Genome Browser, Ensembl)
Type substitution
Exon 00_up
RNA change -
Protein variant
RBWiki -
expected consequence type variant
DB-ID RB1_00999
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.1328A>C c.-732A>C substitution 00_up - variant - variant RB1_00999 -

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