LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002800)
Patient ID 1KG_13_48881451
Phenotype -
Mut. origin germline
Tissue blood
Template DNA
tumor-genotype -
family history -
Reference http://www.1000genomes.org/
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Probably no pathogenicity
g-position g.5459C>T
cDNA change c.173C>T   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Exon 02_ex
RNA change -
Protein p.Thr58Ile
RBWiki -
expected consequence type unknown
DB-ID RB1_01566
originated_in germline

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.5459C>T c.173C>T Substitution 02_ex - p.Thr58Ile - unknown RB1_01566 germline

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