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

9 entries on 1 page. Showing entries 1 - 9.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+/. - c.511C>T pathogenic r.(?) p.(Gln171*)
+/. - c.523C>T pathogenic r.(?) p.(Gln175*)
+/. - c.974del - r.(?) p.(Ala325Aspfs*14)
+?/. - c.1132T>C likely pathogenic r.(?) p.(Ser378Pro)
./. - c.1321G>A - r.(?) p.(Gly441Arg)
-?/. - c.1912+18T>C likely benign r.(=) p.(=)
+/. - c.1913-1G>A pathogenic r.spl p.?
?/. - c.2263C>T VUS r.(?) p.(Arg755Cys)
+?/. - c.2319_2320del likely pathogenic r.(?) p.(Gly774Trpfs*78)
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