Transcript #00000696 (NM_002547.2, OPHN1 gene)

Transcript name oligophrenin 1
Gene name OPHN1 (oligophrenin 1)
Chromosome X
Transcript - NCBI ID NM_002547.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_002538.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.-5+1G>A r.spl? p.?
+/. 2i c.(154+1::155-1) r.0 p.0
+?/. - c.4G>C r.(?) p.(Gly2Arg)
-?/. - c.12C>G r.(?) p.(Pro4=)
?/. - c.19G>A r.(?) p.(Glu7Lys)
?/. - c.37C>G r.(?) p.(Leu13Val)
?/. - c.101A>G r.(?) p.(Lys34Arg)
?/? 2 c.115G>A r.(?) p.(Val39Ile)
-/. - c.115G>A r.(?) p.(Val39Ile)
-/. - c.115G>A r.(?) p.(Val39Ile)
?/. - c.116_127del r.(?) p.(Val39_Asp42del)
-?/. - c.133G>A r.(?) p.(Ala45Thr)
-?/. - c.133G>A r.(?) p.(Ala45Thr)
-/. - c.154+69A>C r.(=) p.(=)
?/. - c.154+196T>C r.(=) p.(=)
?/. - c.154+196T>C r.(=) p.(=)
?/. - c.155-5T>C r.spl? p.?
+/. 3 c.184C>T r.(?) p.(Gln62*)
?/. - c.204G>C r.(?) p.(Gln68His)
?/. - c.204G>T r.(?) p.(Gln68His)
-?/. - c.237T>C r.(?) p.(Asp79=)
./. - c.251-2A>G r.spl? p.?
./. - c.403G>T r.(?) p.(Glu135*)
?/? 6 c.434T>C r.(?) p.(Leu145Pro)
+/. - c.487-359_1276+332dup r.? p.?
+?/. - c.487-358_1276+333dup r.? p.?
+?/. - c.525_526insA r.(?) p.(Glu176ArgfsTer5)
+?/. 7 c.549dup r.(?) p.(Gln184Serfs*23)
-?/. - c.579G>A r.(?) p.(Lys193=)
+?/. 7 c.590T>A r.(?) p.(Val197Glu)
?/. - c.598-245G>A r.(=) p.(=)
+?/. - c.638T>C r.(?) p.(Leu213Pro)
+/. - c.702+2T>C r.spl? p.?
-?/. - c.702+11A>C r.(=) p.(=)
?/. - c.702+136T>C r.(=) p.(=)
?/. - c.702+136T>C r.(=) p.(=)
-?/. - c.705A>C r.(?) p.(Thr235=)
+/. 9 c.745_752dup r.745_752dup p.Lys251Asnfs*6
+?/. 9 c.746T>C r.(?) p.(Leu249Pro)
-?/. - c.832+16G>A r.(=) p.(=)
-/. - c.832+112A>G r.(=) p.(=)
-/. - c.832+159_832+160del r.(=) p.(=)
?/. - c.832+160_832+161del r.(=) p.(=)
?/. - c.832+162del r.(=) p.(=)
?/. - c.832+162del r.(=) p.(=)
?/. - c.832+538A>G r.(=) p.(=)
?/. - c.832+538A>G r.(=) p.(=)
?/. - c.853G>A r.(?) p.(Val285Met)
?/. - c.855G>A r.(?) p.(Val285=)
-?/. - c.885C>G r.(?) p.(Thr295=)
-?/. - c.902C>T r.(?) p.(Thr301Met)
-?/. - c.902C>T r.(?) p.(Thr301Met)
-?/. - c.902C>T r.(?) p.(Thr301Met)
-?/. - c.902C>T r.(?) p.(Thr301Met)
-?/. - c.903G>A r.(?) p.(Thr301=)
-?/. - c.1026-15T>A r.(=) p.(=)
-?/. - c.1026-10T>C r.(=) p.(=)
?/. - c.1120A>G r.(?) p.(Ile374Val)
?/. - c.1134A>C r.(?) p.(Gln378His)
+?/. - c.1138+1C>T r.spl p.?
-?/. - c.1139-17dup r.(=) p.(=)
?/. - c.1183A>G r.(?) p.(Asn395Asp)
?/. - c.1184A>G r.(?) p.(Asn395Ser)
-?/. - c.1184A>G r.(?) p.(Asn395Ser)
?/. - c.1184A>G r.(?) p.(Asn395Ser)
?/. 14i c.1202-71C>T r.(?) p.(=)
?/. 14i c.1202-71C>T r.(?) p.(=)
-?/. - c.1202-5A>G r.spl? p.?
+?/. - c.1262T>C r.(?) p.(Leu421Pro)
+/. - c.1265del r.(?) p.(Asn422Metfs*28)
?/. - c.1270T>G r.(?) p.(Phe424Val)
?/. - c.1270T>G r.(?) p.(Phe424Val)
./. - c.1277_1834del r.(?) p.(Pro427_Asp612del)
?/. - c.1286G>A r.(?) p.(Cys429Tyr)
+/. - c.1410_1420+1delinsA r.spl p.?
-/. - c.1421-133C>G r.(=) p.(=)
-/. - c.1421-131C>G r.(=) p.(=)
-?/. - c.1461C>T r.(?) p.(Ser487=)
+?/. - c.1489C>T r.(?) p.(Arg497*)
+/. 18 c.1489C>T r.(?) p.(Arg497*)
-?/. - c.1497G>A r.(?) p.(Met499Ile)
./. - c.1508_1511del r.(?) p.(Leu503Glnfs*16)
./. - c.1527-1G>A r.spl? p.?
+/. 19 c.1579del r.(?) p.(Ile527Serfs*6)
./. - c.1585G>C r.(?) p.(Gly529Arg)
?/. 19 c.1682G>A r.(?) p.(Gly561Asp)
-?/. - c.1699C>A r.(?) p.(Pro567Thr)
-?/. - c.1722G>A r.(?) p.(Pro574=)
?/. - c.1856C>T r.(?) p.(Pro619Leu)
-?/. - c.1857G>A r.(?) p.(Pro619=)
?/? 21 c.1955C>T r.(?) p.(Ser652Phe)
-?/. - c.1985T>C r.(?) p.(Leu662Ser)
-?/. - c.2029C>A r.(?) p.(Leu677Met)
-?/. - c.2029C>A r.(?) p.(Leu677Met)
-?/. - c.2029C>A r.(?) p.(Leu677Met)
+?/. 21 c.2035G>A r.(?) p.(Asp679Asn)
-?/. - c.2056C>T r.(?) p.(Pro686Ser)
-?/. - c.2056C>T r.(?) p.(Pro686Ser)
?/. - c.2129C>T r.(?) p.(Ala710Val)
?/. - c.2134C>T r.(?) p.(Arg712Trp)
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