Transcript #00017082 (NM_000264.3, PTCH1 gene)

Transcript name transcript variant 1b
Gene name PTCH1 (patched 1)
Chromosome 9
Transcript - NCBI ID NM_000264.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000255.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

704 entries on 8 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. - c.? r.? p.?
+/. _1_24_ c.(?_-340192)_(*2301659_?)del r.0? p.0?
+/. _1_24_ c.-107315_*190107dup r.? p.?
+?/. _1 c.-8456delG - -
-?/. - c.-8375G>C r.(?) p.(=)
-?/. - c.-8329A>G r.(?) p.(=)
-?/. - c.-8329A>G r.(?) p.(=)
-/. - c.-8318_-8316dup r.(?) p.(=)
+/+ _1_2i c.(?_-188)_(394+1_395-1)del r.(?) p.?
+/+ _1_24_ c.(?_-188)_(*3411_?)del r.0? p.0?
+/+ _1_24_ c.(?_-188)_(*3411_?)del r.0? p.0?
+/+ _1_24_ c.(?_-188)_(*3411_?)del r.0? p.0?
+/. _1_24_ c.(?_-188)_(*3411_?)del r.0? p.0?
+/. _1_24_ c.(?_-188)_(*3411_?)del r.0? p.0?
+/. _1_24_ c.(?_-188)_(*3411_?)del r.0? p.0?
+/. _1_24_ c.(?_-188)_(*3411_?)del r.0? p.0?
+/. _1_24_ c.(?_-188)_(*3411_?)del r.0? p.0?
+/. _1_24_ c.(?_-188)_(*3411_?)del r.0? p.0?
+/. _1_24_ c.(?_-188)_(*3411_?)del r.0? p.0?
+/. _1_24_ c.(?_-188)_(*3411_?)del r.0? p.0?
+/. _1_24_ c.(?_-188)_(*3411_?)del r.0? p.0?
+/. _1_24_ c.(?_-188)_(*3411_?)del r.0? p.0?
+/. _1_24_ c.(?_-188)_(*3411_?)del r.0? p.0?
+/. _1_24_ c.(?_-188)_(*3411_?)del r.0? p.(?)
+/. _1 c.? r.? p.(?)
-?/. - c.-9_-4del r.(?) p.(=)
-?/. - c.-9_-4dup r.(?) p.(=)
-/. 1 c.-6_-4dup r.(=) p.(=)
-?/. - c.-6_-4dup r.(?) p.(=)
-?/. - c.-6_-4dup r.(?) p.(=)
-?/. - c.-6_-4dup r.(?) p.(=)
?/. 1 c.-6_-4dup r.(?) p.(=)
+?/+? 2i_12i c.(394+1_395-1)_(1728+1_1729-1)(2) r.(?) p.?
+?/+? 2i_16i c.(394+1_395-1)_(2703+1_2704-1)(2) r.(?) p.(?)
+/. 16 c.2608_?delins? r.? p.?
?/. - c.37C>G r.(?) p.(Arg13Gly)
-?/. - c.37C>G r.(?) p.(Arg13Gly)
-/. - c.109G>C r.(?) p.(Gly37Arg)
-?/. - c.113G>A r.(?) p.(Gly38Glu)
-?/. - c.113G>A r.(?) p.(Gly38Glu)
?/. 1 c.113G>A r.(?) p.(Gly38Glu)
-?/. - c.113G>T r.(?) p.(Gly38Val)
-?/. - c.113G>T r.(?) p.(Gly38Val)
+/+ 1 c.114del r.(?) p.(Leu39Cysfs*41)
+/. - c.114del r.(?) p.(Leu39CysfsTer41)
+/. - c.122del r.(?) p.(Arg41Leufs*39)
-?/. - c.127G>A r.(?) p.(Ala43Thr)
?/. - c.148_149del r.(?) p.(Leu50AlafsTer39)
-?/. - c.174C>T r.(?) p.(Ala58=)
?/. - c.174C>T r.(?) p.(Ala58=)
-?/. - c.181G>A r.(?) p.(Ala61Thr)
+?/. - c.202-2A>C r.spl? p.?
+?/+? 1i c.202-2A>G r.spl? p.?
+/+ 2 c.205A>T r.(?) p.(Lys69*)
+/. 2 c.222del r.(?) p.(Ala75Argfs*5)
+/. 2 c.233G>A r.(?) p.(Trp78*)
+/. 2 c.240_241del r.(?) p.(Arg80Serfs*9)
+/. - c.244_245del r.(?) p.(Lys82ValfsTer7)
+/. 2 c.250C>T r.(?) p.(Gln84*)
+/. 2 c.254_255del r.(?) p.(Arg85Thrfs*4)
+/+ 2 c.254_255del r.(?) p.(Arg85Thrfs*4)
+/. 2 c.258_259del r.(?) p.(Leu87Ilefs*2)
+/+ 2 c.258_259del r.(?) p.(Leu87Ilefs*2)
+/. - c.258_259del r.(?) p.(Leu87IlefsTer2)
+/. 2 c.258_259del r.(?) p.(Leu87Ilefs*2)
+/. 2 c.258_259del r.(?) p.(Leu87Ilefs*2)
+/+ 2 c.258_259del r.(?) p.(Leu87Ilefs*2)
+/. 2 c.260_264delinsAA r.(?) p.(Leu87*)
+/. 2 c.262_265del r.(?) p.(Phe88Asnfs*28)
+/+ 2 c.262_266del r.(?) p.(Phe88Thrfs*50)
+/. - c.262_266del r.(?) p.(Phe88Thrfs*50)
?/. - c.271G>T r.(?) p.(Gly91Cys)
+/. 2 c.271_293del r.(?) p.(Gly91Argfs*41)
+/. 2 c.279C>A r.(?) p.(Tyr93*)
+/+ 2 c.279C>G r.(?) p.(Tyr93*)
+/. 2 c.280dup r.(?) p.(Ile94Asnfs*46)
+/. 2 c.282dup r.(?) p.(Gln95Serfs*45)
+/. 2 c.289_290delinsC r.(?) p.(Asn97Profs*20)
+/. 2 c.290del r.(?) p.(Asn97Thrfs*20)
+/. 2 c.290dup r.(?) p.(Asn97Lysfs*43)
+/+ 2 c.294C>A r.(?) p.(Cys98*)
+/. 2 c.305T>A r.(?) p.(Leu102*)
+/. 2 c.317T>G r.(?) p.(Leu106Arg)
-/. - c.318C>T r.(?) p.(Leu106=)
-?/. - c.318C>T r.(=) p.(=)
?/. - c.319_321del r.(?) p.(Leu107del)
+/. 2 c.323_324insGA r.(?) p.(Ile108Metfs*10)
+/. 2 c.328G>C r.(?) p.(Gly110Arg)
+/. 2 c.331del r.(?) p.(Ala111Profs*6)
+/. - c.343G>T r.(?) p.(Gly115*)
+/. 3 c.379G>T r.(?) p.(Glu127*)
+?/. 2 c.383T>C r.(?) p.(Leu128Pro)
+/+ 2 c.385_386dup r.(?) p.(Trp129Cysfs*9)
+/. 3 c.386G>A r.(?) p.(Trp129*)
+/. 3 c.387G>A r.(?) p.(Trp129*)
+/+ 2i_24_ c.(393+1_394-1)_(*3411_?)del r.(?) p.?
+?/+? 2i c.394+1G>A r.spl p.?
+?/+? 2i c.394+1G>C r.spl? p.?
+/+ 3 c.403C>T r.(?) p.(Arg135*)
+/. 3 c.403C>T r.(?) p.(Arg135*)
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