LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0003420)
Patient ID VNKVM0006
Phenotype unilateral rb
Mut. origin germline
Tissue blood
Template DNA
tumor-genotype unknown
family history unknown
Reference Viet Nam:Hanoi
# Reported 1
Published unpublished
Remarks -
Submitter Ha Hai Nguyen

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Unknown
g-position g.76434insTA
cDNA change c.1337insTA
Type Insertion
Exon 14
RNA change -
Protein -
RBWiki -
expected consequence type frameshift
DB-ID RB1_02108
originated_in germline

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.76434insTA c.1337insTA Insertion 14 - - - frameshift RB1_02108 germline

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