LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002452)
Patient ID not provided
Phenotype -
Mut. origin unknown
Tissue nd
Template DNA
tumor-genotype unknown
family history unknown
Reference dbSNP
# Reported 1
Published -
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.120356A>G
cDNA change c.1696-29642A>G   (View in UCSC Genome Browser, Ensembl)
Type substitution
Exon 17_in
RNA change -
Protein variant
RBWiki -
expected consequence type variant
DB-ID RB1_01075
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.120356A>G c.1696-29642A>G substitution 17_in - variant - variant RB1_01075 -

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