Unique variants in gene HNRNPU

Information The variants shown are described using the NM_031844.2 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. 1 - c.511C>T pathogenic r.(?) p.(Gln171*) g.245027099G>A - HNRNPU:c.511C>T (Q171*) - HNRNPU_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 - c.523C>T pathogenic r.(?) p.(Gln175*) g.245027087G>A - HNRNPU:NM_0031844.2:c.523C>T (Gln175*) - HNRNPU_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.974del - r.(?) p.(Ala325Aspfs*14) g.245023680del - 974delC - HNRNPU_000002 - - - - Germline/De novo (untested) - - - - - IMGAG
+?/. 1 - c.1132T>C likely pathogenic r.(?) p.(Ser378Pro) g.245022129A>G - HNRNPU:NM_031844.2:c.1132T>C (Ser378Pro) - HNRNPU_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
./. 1 - c.1321G>A - r.(?) p.(Gly441Arg) g.245021486C>T g.244858184C>T - - HNRNPU_000001 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs377613329 Germline - 1/567 controls - - - Dheeraj Bobbili
-?/. 1 - c.1912+18T>C likely benign r.(=) p.(=) g.245019741A>G - HNRNPU:c.1912+18T>C - HNRNPU_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.1913-1G>A pathogenic r.spl p.? g.245019461C>T - - - HNRNPU_000009 - - - - Unknown - - - - - IMGAG
?/. 1 - c.2263C>T VUS r.(?) p.(Arg755Cys) g.245018815G>A - HNRNPU:NM_031844.2(HNRNPU):c.2263C>T (Arg755Cys) - HNRNPU_000006 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.2319_2320del likely pathogenic r.(?) p.(Gly774Trpfs*78) g.245018758_245018759del - HNRNPU:NM_031844.2:c.2319_2320del (Gly774fs) - HNRNPU_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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