Transcript #00008769

Transcript name transcript variant 1
Gene name GPHN (gephyrin)
Chromosome 14
Transcript - NCBI ID NM_020806.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_065857.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

49 entries on 1 page. Showing entries 1 - 49.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.26C>G r.(?) p.(Thr9Ser)
-?/. - c.26C>G r.(?) p.(Thr9Ser)
-?/. - c.26C>G r.(?) p.(Thr9Ser)
?/. - c.86A>G r.(?) p.(Asn29Ser)
-?/. - c.127G>T r.(?) p.(Val43Leu)
-/. - c.143+27988G>A r.(=) p.(=)
-?/. - c.144-147T>C r.(=) p.(=)
-?/. - c.202-78A>G r.(=) p.(=)
+/. - c.202-2A>G r.spl? p.?
?/. - c.271G>A r.(?) p.(Ala91Thr)
-?/. - c.390-5T>C r.spl? p.?
-?/. - c.457-109T>C r.(=) p.(=)
-?/. - c.633A>G r.(?) p.(Gln211=)
-/. - c.729+69dup r.(=) p.(=)
-?/. - c.730-45G>A r.(=) p.(=)
-?/. - c.751C>T r.(?) p.(Pro251Ser)
-?/. - c.800A>G r.(?) p.(Asn267Ser)
-?/. - c.800A>G r.(?) p.(Asn267Ser)
?/. - c.828+1G>A r.spl? p.?
-/. - c.963+10G>A r.(=) p.(=)
-?/. - c.963+164A>G r.(=) p.(=)
-?/. - c.963+20437dup r.(=) p.(=)
-/. - c.963+20575del r.(=) p.(=)
-?/. - c.964-34A>G r.(=) p.(=)
?/. - c.1142G>A r.(?) p.(Arg381Gln)
-?/. - c.1238-31T>C r.(=) p.(=)
-?/. - c.1293+16del r.(=) p.(=)
-?/. - c.1293+180T>C r.(=) p.(=)
-?/. - c.1294-187C>T r.(=) p.(=)
?/. - c.1388C>G r.(?) p.(Thr463Ser)
-?/. - c.1414-15C>T r.(=) p.(=)
?/. - c.1480G>T r.(?) p.(Gly494Cys)
?/. - c.1576G>A r.(?) p.(Val526Ile)
-?/. - c.1627-63T>C r.(=) p.(=)
?/. - c.1699A>G r.(?) p.(Ile567Val)
-?/. - c.1749-152G>T r.(=) p.(=)
-?/. - c.1749-6T>C r.(=) p.(=)
-?/. - c.1797T>C r.(?) p.(Asp599=)
-?/. - c.1797T>C r.(?) p.(Asp599=)
-/. - c.1910+108C>T r.(=) p.(=)
-?/. - c.1910+118del r.(=) p.(=)
-?/. - c.1971A>C r.(?) p.(Leu657=)
-/. - c.1976-143G>A r.(=) p.(=)
+/. - c.2079+1G>A r.spl? p.?
-/. - c.2176+9T>C r.(=) p.(=)
-/. - c.2176+9T>C r.(=) p.(=)
?/. - c.2237C>T r.(?) p.(Pro746Leu)
-/. - c.*427C>T r.(=) p.(=)
-?/. - c.*760A>G r.(=) p.(=)
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