Transcript #00009522

Transcript name transcript variant 1
Gene name HNRNPU (heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A))
Chromosome 1
Transcript - NCBI ID NM_031844.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_114032.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

26 entries on 1 page. Showing entries 1 - 26.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. - c.141C>T benign r.(?) p.(=)
+/. - c.198del pathogenic r.(?) p.(Ala67Leufs*40)
-?/. - c.268G>A likely benign r.(?) p.(Glu90Lys)
-?/. - c.428A>G likely benign r.(?) p.(Asp143Gly)
+/. - c.511C>T pathogenic r.(?) p.(Gln171*)
+/. - c.523C>T pathogenic r.(?) p.(Gln175*)
-?/. - c.643A>G likely benign r.(?) p.(Lys215Glu)
-?/. - c.644A>C likely benign r.(?) p.(Lys215Thr)
+/. - c.651_660dup pathogenic r.(?) p.(Gly221Argfs*25)
+/. - c.651_660dup pathogenic r.(?) p.(Gly221Argfs*25)
-?/. - c.715G>A likely benign r.(?) p.(Gly239Ser)
+?/. - c.817C>T likely pathogenic r.(?) p.(Gln273*)
+/. - c.974del - r.(?) p.(Ala325Aspfs*14)
-?/. - c.1081A>G likely benign r.(?) p.(Ile361Val)
+?/. - c.1132T>C likely pathogenic r.(?) p.(Ser378Pro)
-?/. - c.1215G>A likely benign r.(?) p.(=)
?/. - c.1234T>G VUS r.(?) p.(Phe412Val)
-?/. - c.1268A>G likely benign r.(?) p.(Lys423Arg)
./. - c.1321G>A - r.(?) p.(Gly441Arg)
-?/. - c.1743+8G>T likely benign r.(=) p.(=)
-?/. - c.1912+18T>C likely benign r.(=) p.(=)
+/. - c.1913-1G>A pathogenic r.spl p.?
-?/. - c.2204A>G likely benign r.(?) p.(Asn735Ser)
?/. - c.2206A>C VUS r.(?) p.(Met736Leu)
?/. - c.2263C>T VUS r.(?) p.(Arg755Cys)
+/. - c.2365C>T pathogenic r.(?) p.(Arg789*)
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