LOVD - Variant listings for RB1

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Patient data (#0003186)
Patient ID Supp_Tab_Mt-88
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.156763dupA
cDNA change c.2031dupA   (View in UCSC Genome Browser, Ensembl)
Type Duplication
Exon 20_ex
RNA change -
Protein p.(His678Thrfs*14)
RBWiki -
expected consequence type frameshift
DB-ID RB1_01912
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.156763dupA c.2031dupA Duplication 20_ex - p.(His678Thrfs*14) - frameshift RB1_01912 unknown

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