LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002522)
Patient ID 5
Phenotype unilateral rb
Mut. origin -
Tissue blood
Template DNA
tumor-genotype -
family history -
Reference -
# Reported 1
Published unpublished
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.70254C>T
cDNA change c.1140C>T   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Exon 12_ex
RNA change -
Protein p.Asn380Asn
RBWiki Asn380Asn
expected consequence type unknown
DB-ID RB1_01445
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.70254C>T c.1140C>T Substitution 12_ex - p.Asn380Asn Asn380Asn unknown RB1_01445 unknown

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