LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002832)
Patient ID SNP13-47931836
Phenotype -
Mut. origin unknown
Tissue nd
Template DNA
tumor-genotype -
family history -
Reference OMNI
# Reported 1
Published -
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.156704G>A
cDNA change c.1972G>A   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Exon 20_ex
RNA change -
Protein p.Ala658Thr
RBWiki -
expected consequence type unknown
DB-ID RB1_01580
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.156704G>A c.1972G>A Substitution 20_ex - p.Ala658Thr - unknown RB1_01580 unknown

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