LOVD - Variant listings for RB1

About this overview [Show]

1 public entry
entries per page

Path. Hide Path. column Descending
Ascending

g-position Hide g-position column Descending
Ascending

cDNA change   Descending
Ascending

Type Hide Type column Descending
Ascending

Exon Hide Exon column Descending
Ascending

RNA change Hide RNA change column Descending
Ascending

Protein Hide Protein column Descending
Ascending

RBWiki Hide RBWiki column Descending
Ascending

expected consequence type Hide expected consequence type column Descending
Ascending

DB-ID Hide DB-ID column Descending
Ascending

originated_in Hide originated_in column Descending
Ascending

Patient ID Hide Patient ID column Descending
Ascending

Phenotype Hide Phenotype column Descending
Ascending

Mut. origin Hide Mut. origin column Descending
Ascending

Tissue Hide Tissue column Descending
Ascending

Template Hide Template column Descending
Ascending

tumor-genotype Hide tumor-genotype column Descending
Ascending

family history Hide family history column Descending
Ascending

Reference Hide Reference column Descending
Ascending

# Reported Hide # Reported column Descending
Ascending

Published Hide Published column Descending
Ascending

Remarks Hide Remarks column Descending
Ascending
?/+ g.70326del c.1212del deletion 12_ex - - - frameshift RB1_00732 germline E4095 bilateral rb germline nd DNA - not reported Lohmann - Essen 1 unpublished -
1


Legend: [ RB1 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. g-position: Variation at DNA level according to GenBank accession number L11910 (NCBI Genbank) cDNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. Type: Type of variant at DNA level. Exon: Exon numbering. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. RBWiki: RBWiki expected consequence type: expected consequence type at protein level, e.g. frameshift, missense RB1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. originated_in: data on the cell of origin, either germline or somatic (mosaic mutations are of somatic origin) Patient ID: Internal reference to the patient. Phenotype: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Mut. origin: Origin of mutation Tissue: Tissue type the variant was detected in. Template: Variant detected in DNA, RNA and/or Protein. tumor-genotype: Genotype of the tumor cells family history: Occurrence of the tumor in the family Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. # Reported: Number of times this case has been reported Published: Patient data is published in a paper


Please help to improve the quality of the data and report any error that you may find!