LOVD - Variant listings for RB1

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Patient data (#0003216)
Patient ID Supp_Tab_Mt-43
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.64362_64365del4
cDNA change c.972_975delTTAT   (View in UCSC Genome Browser, Ensembl)
Type Deletion
Exon 10_ex
RNA change -
Protein p.(Tyr325Leufs*6)
RBWiki -
expected consequence type frameshift
DB-ID RB1_01940
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.64362_64365del4 c.972_975delTTAT Deletion 10_ex - p.(Tyr325Leufs*6) - frameshift RB1_01940 unknown

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