Transcript #00000140 (NM_153704.5, TMEM67 gene)

Transcript name transmembrane protein 67, transcript variant 1
Gene name TMEM67 (transmembrane protein 67)
Chromosome 8
Transcript - NCBI ID NM_153704.5
Transcript - Ensembl ID -
Protein - NCBI ID NP_714915.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

186 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.25G>A r.(?) p.(Val9Met)
?/. - c.29C>T r.(?) p.(Ala10Val)
?/. - c.37G>A r.(?) p.(Val13Ile)
+?/. 1 c.41G>A r.(?) p.(Trp14*)
-?/. - c.66G>A r.(?) p.(Val22=)
-?/. - c.114C>T r.(?) p.(Thr38=)
-/. - c.120T>C r.(?) p.(Ser40=)
-?/. - c.120T>C r.(?) p.(Ser40=)
?/. - c.124C>G r.(?) p.(Pro42Ala)
?/. - c.137C>A r.(?) p.(Pro46Gln)
+?/+? 1b c.161A>G r.(161a>g) p.(Tyr54Cys)
-?/. - c.186T>C r.(?) p.(Cys62=)
?/. - c.194G>T r.(?) p.(Cys65Phe)
-/. - c.224-4_224-3del r.spl? p.?
+/+ 1i c.224-2del r.224_312del p.(Gly75Glufs*15)
?/. - c.274G>A r.(?) p.(Gly92Arg)
+?/. - c.312+2T>G r.spl? p.?
+/. 2i c.313-3T>G r.313_316del p.Lys105Valfs*16
?/. - c.316G>A r.(?) p.(Gly106Ser)
+/. - c.329A>G r.328a>g p.Asp110Gly
-?/. - c.369C>T r.(?) p.(Ala123=)
-/. - c.369C>T r.(?) p.(Ala123=)
+/+ 3a c.383_384del r.(383_384del) p.(His128Leufs*13)
+/+ 3a c.387T>A r.(387u>a) p.(Cys129*)
+/. - c.406+1300C>T r.(=) p.(=)
-?/. - c.406+1301G>A r.(=) p.(=)
-/. - c.406+1332C>T r.(=) p.(=)
-?/. - c.406+1361C>T r.(=) p.(=)
-/. - c.406+1361C>T r.(=) p.(=)
-/. - c.406+1361C>T r.(=) p.(=)
-?/. - c.406+1379G>A r.(=) p.(=)
-/. - c.406+1379G>A r.(=) p.(=)
?/. - c.406+1421A>G r.(=) p.(=)
-/. - c.407-894_407-893del r.(=) p.(=)
+/. 4 c.415_416del r.(?) p.(Asp139Hisfs*2)
-/. - c.429A>T r.(?) p.(Thr143=)
?/. - c.511G>A r.(?) p.(Val171Ile)
+/. 5 c.514C>T r.(?) p.(Arg172*)
+/. - c.514C>T r.(?) p.(Arg172Ter)
-?/. - c.561A>G r.(?) p.(Ser187=)
-?/. - c.576+10A>T r.(=) p.(=)
-?/. - c.577-11T>C r.(=) p.(=)
+/. - c.579del r.(?) p.(Gly195AspfsTer27)
+/+ 7 c.579del r.(?) p.(Gly195Aspfs*27)
+/+ 7 c.579_580del r.(?) p.(Gly195Ilefs*13)
+/. 6 c.579_580del r.(?) p.(Gly195Ilefs*13)
+/. - c.579_580del r.(?) p.(Gly195IlefsTer13)
+/. - c.579_580del r.(?) p.(Gly195IlefsTer13)
?/. - c.584G>T r.(?) p.(Gly195Val)
+/+ 7 c.622A>T r.(622a>u) p.(Arg208*)
+/. 6 c.622A>T r.(?) p.(Arg208*)
+?/. 6 c.622A>T r.(?) p.(Arg208*)
+?/. 6 c.622A>T r.(?) p.(Arg208*)
+/. - c.622A>T r.(?) p.(Arg208Ter)
+/. - c.622A>T r.(?) p.(Arg208Ter)
+/. - c.622A>T r.(?) p.(Arg208Ter)
+/. - c.622A>T r.(?) p.(Arg208Ter)
+/. 6 c.622A>T r.(?) p.(Arg208*)
+/+ 7 c.648del r.(?) p.(Val217Leufs*5)
+?/+? 7i c.651+2T>G r.spl? p.?
+?/. - c.651+2T>G r.spl? p.?
?/. - c.653G>C r.(?) p.(Gly218Ala)
?/. - c.653G>C r.(?) p.(Gly218Ala)
-?/. - c.653G>C r.(?) p.(Gly218Ala)
+/+ 8 c.675G>A r.(675g>a) p.(Trp225*)
-?/. - c.717A>G r.(?) p.(Val239=)
?/. - c.717A>G r.(?) p.(Val239=)
+?/. 8 c.725A>G r.(?) p.(Asn242Ser)
+/. 8 c.725A>G r.(?) p.(Asn242Ser)
+?/+? 9 c.734C>T r.(734c>u) p.(Ser245Phe)
+?/+? 9 c.755T>C r.(755u>c) p.(Met252Thr)
+?/. - c.755T>C r.(?) p.(Met252Thr)
+/. - c.755T>C r.(?) p.(Met252Thr)
-/. - c.781G>A r.(?) p.(Asp261Asn)
-/. - c.781G>A r.(?) p.(Asp261Asn)
-?/. - c.781G>A r.(?) p.(Asp261Asn)
-?/. - c.781G>A r.(?) p.(Asp261Asn)
-?/. - c.781G>A r.(?) p.(Asp261Asn)
-/. - c.781G>A r.(?) p.(Asp261Asn)
+?/. 8 c.797A>C r.(?) p.(Asp266Ala)
?/. - c.797A>C r.(?) p.(Asp266Ala)
?/. - c.857C>G r.(?) p.(Ser286Cys)
-/. - c.869+9A>G r.(=) p.(=)
+?/+? 9i c.870-2A>G r.spl p.?
+?/+? 10 c.888G>T r.(888g>u) p.(Trp296Cys)
?/. - c.958A>T r.(?) p.(Ser320Cys)
?/. - c.958A>T r.(?) p.(Ser320Cys)
-?/. - c.978+5A>C r.spl? p.?
+?/+? 11 c.1046T>C r.(1046t>c) p.(Leu349Ser)
+/. 10 c.1046T>C r.(?) p.(Leu349Ser)
+?/+? 11i c.1065+1del r.spl? p.(Gln355HisfsTer10)
-/. - c.1066-3C>T r.spl? p.?
-/. - c.1066-3C>T r.spl? p.?
-/. - c.1066-3C>T r.spl? p.?
?/. - c.1073C>T r.(?) p.(Pro358Leu)
?/. - c.1078A>G r.(?) p.(Thr360Ala)
+?/. 11 c.1115C>A r.(?) p.(Thr372Lys)
+/+ 12 c.1127A>C r.(1127a>c) p.(Gln376Pro)
-?/. - c.1145T>G r.(?) p.(Ile382Ser)
+/. 13 c.1289A>G r.(1289_1412del) p.(Asp430Serfs*9)
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