LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002835)
Patient ID rs79200171
Phenotype -
Mut. origin -
Tissue nd
Template DNA
tumor-genotype -
family history -
Reference dbSNP
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.156749C>G
cDNA change c.2017C>G   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Exon 20_ex
RNA change -
Protein p.His673Asp
RBWiki -
expected consequence type unknown
DB-ID RB1_01582
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.156749C>G c.2017C>G Substitution 20_ex - p.His673Asp - unknown RB1_01582 unknown

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