LOVD - Variant listings for RB1

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Patient data (#0003440)
Patient ID KVM60
Phenotype bilateral rb
Mut. origin germline
Tissue blood
Template DNA
tumor-genotype unknown
family history isolated
Reference Viet Nam:Hanoi
# Reported 1
Published unpublished
Remarks -
Submitter Ha Hai Nguyen

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
g-position g. 1867-1871
cDNA change delTGACG
Type Deletion
Exon -
RNA change -
Protein -
RBWiki -
expected consequence type silent
DB-ID RB1_02120
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. 1867-1871 delTGACG Deletion - - - - silent RB1_02120 germline

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