LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002712)
Patient ID rs34437965
Phenotype -
Mut. origin -
Tissue nd
Template DNA
tumor-genotype -
family history -
Reference dbSNP
# Reported 1
Published -
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.2121_2122insG
cDNA change c.64dup   (View in UCSC Genome Browser, Ensembl)
Type Insertion/Deletion
Exon 01_ex
RNA change -
Protein p.Ala22Glyfs*9
RBWiki -
expected consequence type unknown
DB-ID RB1_01517
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.2121_2122insG c.64dup Insertion/Deletion 01_ex - p.Ala22Glyfs*9 - unknown RB1_01517 unknown

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