Transcript #00001161 (NM_173495.2, PTCHD1 gene)

Transcript name patched domain containing 1
Gene name PTCHD1 (patched domain containing 1)
Chromosome X
Transcript - NCBI ID NM_173495.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_775766.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

78 entries on 1 page. Showing entries 1 - 78.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

RNA change     

Protein     
+?/. _1_3_ c.-23906_*6987del - r.0 p.0
+/. _1 c.-98_-72dup - r.(=) p.(=)
-?/. - c.-88_-56= GCC[11] r.(=) p.(=)
+?/. _1 c.-64_-56dup GCC[14] r.(=) p.(=)
-?/. _1 c.-61_-56dup GCC[13] r.(=) p.(=)
-?/. - c.-58_-56del GCC[10] r.(=) p.(=)
-?/. _1 c.-58_-56dup GCC[12] r.(=) p.(=)
?/. _1 c.-55C>G - r.(=) p.(=)
+/. _1_1i c.(?_-1)_(351+1_352-1)del - r.0 p.0
+/. _1_1i c.(?_-1)_(351+1_352-1)del - r.0 p.0
+/. _1_1i c.(?_-1)_(351+1_352-1)del - r.0 p.0
+/. _1_1i c.(?_-1)_(351+1_352-1)del - r.0 p.0
+/. _1_1i c.(?_-1)_(351+1_352-1)del - r.0 p.0
+/. _1_1i c.(?_-1)_(351+1_352-1)del - r.0 p.0
+/. _1_1i c.(?_-1)_(351+1_352-1)del - r.0 p.0
+/. _1_6_ c.(?_-1)_(*1_?)del - r.0 p.0
+/. _1_6_ c.(?_-1)_(*1_?)del - r.0 p.0
+/. _1_6_ c.(?_-1)_(*1_?)del - r.0 p.0
+/. _1_6_ c.(?_-1)_(*1_?)del - r.0 p.0
+/. _1_6_ c.(?_-1)_(*1_?)del - r.0 p.0
+/. _1_6_ c.(?_-1)_(*1_?)del - r.0 p.0
+/. _1_6_ c.(?_-1)_(*1_?)del - r.0 p.0
+/. _1_6_ c.(?_-1)_(*1_?)del - r.0 p.0
+/. _1_6_ c.(?_-1)_(*1_?)del - r.0 p.0
+/. _1_6_ c.(?_-1)_(*1_?)del - r.0 p.0
+/. 1i_6_ c.(c.351+1_352-1)_(*1_?)del - r.? p.?
-?/. 1 c.93G>A - r.(?) p.(=)
-?/. 1 c.93G>A - r.(?) p.(=)
?/. 1 c.152G>A - r.(?) p.(Ser51Asn)
-?/. - c.294C>T - r.(?) p.(Val98=)
+?/. - c.304C>T - r.(?) p.(Gln102Ter)
-?/. - c.336C>T - r.(?) p.(Thr112=)
-?/. 1i c.351+340C>G - r.(?) p.(=)
-?/. 1i c.351+340C>G - r.(?) p.(=)
-?/. 1i c.352-297C>T - r.(?) p.(=)
?/. 1i c.352-4A>C - r.(?) p.(=)
?/. 1i c.352-4A>C - r.(?) p.(=)
?/. - c.456C>A - r.(?) p.(Asp152Glu)
?/. - c.458T>C - r.(?) p.(Ile153Thr)
-?/. - c.494C>T - r.(?) p.(Ala165Val)
?/. - c.494C>T - r.(?) p.(Ala165Val)
?/. - c.500A>G - r.(?) p.(Asn167Ser)
?/. - c.517A>G - r.(?) p.(Ile173Val)
-/. - c.517A>G - r.(?) p.(Ile173Val)
+?/. - c.525C>A - r.(?) p.(Tyr175*)
+/. - c.542A>C - r.(?) p.(Lys181Thr)
-?/. - c.563A>G - r.(?) p.(Asn188Ser)
-?/. - c.604C>T - r.(?) p.(Arg202Trp)
-?/. - c.657C>T - r.(?) p.(Asn219=)
?/. - c.673G>C - r.(?) p.(Val225Leu)
-?/. 2 c.690G>A - r.(=) p.(=)
-?/. - c.801A>C - r.(?) p.(Val267=)
?/. - c.831T>G - r.(?) p.(Ile277Met)
-/. - c.858T>C - r.(?) p.(Cys286=)
+?/. - c.861C>A - r.(?) p.(Cys287Ter)
+?/. - c.907G>A - r.(?) p.(Gly303Arg)
-?/. - c.1012+5T>C - r.spl? p.?
-/. - c.1012+5T>C - r.spl? p.?
-?/. - c.1012+5T>C - r.spl? p.?
-?/. - c.1080T>G - r.(?) p.(Val360=)
?/. - c.1423G>T - r.(?) p.(Ala475Ser)
+/. 3 c.1444del - r.(?) p.(Leu482Tyrfs*14)
+/. 3 c.1444del - r.(?) p.(Leu482Tyrfs*14)
-?/. - c.1473C>T - r.(?) p.(Tyr491=)
?/. - c.1555T>A - r.(?) p.(Tyr519Asn)
-?/. - c.1628C>A - r.(?) p.(Thr543Asn)
+/. - c.1639_1652del - r.(?) p.(Lys547LeufsTer11)
+?/. - c.1691_1692del - r.(?) p.(Ile564Argfs*6)
?/. - c.1786C>T - r.(?) p.(Arg596Trp)
+/. - c.1794_1806del - r.(?) p.(Asn599Alafs*11)
+/. 3 c.1796dup - r.(?) p.(Asn599Lysfs*8)
+/. 3 c.1796dup - r.(?) p.(Asn599Lysfs*8)
-?/. - c.2017G>C - r.(?) p.(Val673Leu)
./. - c.2071C>T - r.(?) p.(Arg691*)
+/. 3 c.2128del - r.(?) p.(Leu710Cysfs*13)
+/. 3 c.2128del - r.(?) p.(Leu710Cysfs*13)
-?/. - c.2603T>C - r.(?) p.(Ile868Thr)
?/. - c.2629G>A - r.(?) p.(Asp877Asn)
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