LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0003191)
Patient ID Supp_Tab_Mt-44
Phenotype -
Mut. origin -
Tissue nd
Template DNA
tumor-genotype -
family history -
Reference Price et al., 2013
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.64373dupA
cDNA change c.983dupA   (View in UCSC Genome Browser, Ensembl)
Type Duplication
Exon 10_ex
RNA change -
Protein p.(Asn328Lysfs*2)
RBWiki -
expected consequence type frameshift
DB-ID RB1_01917
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.64373dupA c.983dupA Duplication 10_ex - p.(Asn328Lysfs*2) - frameshift RB1_01917 unknown

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