All variants in the PTCH1 gene

Information The variants shown are described using the NM_001083602.1 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Owner     
-/? 9 c.1018-6C>A r.(=) p.(=) g.98240474G>T - PTCH1_000003 - Florian Bayersdorfer
./. 22 c.3458A>T r.(?) p.(Asp1153Val) g.98211499T>A - PTCH1_000001 - Florian Bayersdorfer
?/? 23 c.3829G>A r.(?) p.(Gly1277Arg) g.98209511C>T - PTCH1_000004 - Florian Bayersdorfer
?/? 23 c.3974G>A r.(?) p.(Arg1325Gln) g.98209366C>T - PTCH1_000002 - Florian Bayersdorfer
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