Unique variants in gene RPGR

Information The variants shown are described using the NM_000328.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Reported     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
?/? 1 c.517G>C p.(Gly173Arg) missense_variant - 6/13 probably_damaging(0.999) r.(?) deleterious(0) subst g.38176671C>G - 5.690 - RPGR_000001 rs137852550 - ; Ensembl; 14627685 - - LOVD
./. 1 c.1905+23C>G p.(=) - - - - r.(=) - - g.38146324G>C - - - RPGR_000002 - - ; clinvar; - - - LOVD
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