LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002400)
Patient ID Caov-4
Phenotype other cancer
Mut. origin somatic
Tissue ovarian carcinoma cell li
Template DNA
tumor-genotype -
family history -
Reference Yaginuma et al, 1997
# Reported 1
Published published
Remarks ovarian cancer

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.39548A>G
cDNA change c.367A>G   (View in UCSC Genome Browser, Ensembl)
Type substitution
Exon 03_ex
RNA change -
Protein p.Asn123Asp
RBWiki Asn123Asp
expected consequence type unknown
DB-ID RB1_01372
originated_in -

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.39548A>G c.367A>G substitution 03_ex - p.Asn123Asp Asn123Asp unknown RB1_01372 -

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