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

43 entries on 1 page. Showing entries 1 - 43.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

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