LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0000316)
Patient ID LuC104C
Phenotype other tumor
Mut. origin somatic
Tissue LuAdenoSquamoCa
Template DNA
tumor-genotype -
family history -
Reference Sachse et al., 1994
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.156750A>C
cDNA change c.2018A>C   (View in UCSC Genome Browser, Ensembl)
Type substitution
Exon 20_ex
RNA change -
Protein p.His673Pro
RBWiki -
expected consequence type missense
DB-ID RB1_00151
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.156750A>C c.2018A>C substitution 20_ex - p.His673Pro - missense RB1_00151 -

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