Full data view for gene HNRNPU

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

26 entries on 1 page. Showing entries 1 - 26.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.141C>T benign r.(?) p.(=) Unknown g.245027469G>A - HNRNPU(NM_031844.2):c.141C>T (p.A47=) - HNRNPU_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.198del pathogenic r.(?) p.(Ala67Leufs*40) Unknown g.245027413del - HNRNPU(NM_004501,NM_031844):c.198del (p.(Ala67fs)) - HNRNPU_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.268G>A likely benign r.(?) p.(Glu90Lys) Unknown g.245027342C>T - HNRNPU(NM_004501.3):c.268G>A (p.(Glu90Lys)) - HNRNPU_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.428A>G likely benign r.(?) p.(Asp143Gly) Unknown g.245027182T>C - HNRNPU(NM_004501.3):c.428A>G (p.(Asp143Gly)) - HNRNPU_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.511C>T pathogenic r.(?) p.(Gln171*) Unknown g.245027099G>A - HNRNPU(NM_031844.2):c.511C>T (p.Q171*) - HNRNPU_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.523C>T pathogenic r.(?) p.(Gln175*) Unknown g.245027087G>A - HNRNPU(NM_0031844.2):c.523C>T (p.Gln175*) - HNRNPU_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.643A>G likely benign r.(?) p.(Lys215Glu) Unknown g.245026967T>C - HNRNPU(NM_031844.2):c.643A>G (p.(Lys215Glu)) - HNRNPU_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.644A>C likely benign r.(?) p.(Lys215Thr) Unknown g.245026966T>G - HNRNPU(NM_031844.2):c.644A>C (p.(Lys215Thr)) - HNRNPU_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.651_660dup pathogenic r.(?) p.(Gly221Argfs*25) Unknown g.245026956_245026965dup - HNRNPU(NM_031844.2):c.651_660dupAGGCGGCGGA (p.G221Rfs*25) - HNRNPU_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.651_660dup pathogenic r.(?) p.(Gly221Argfs*25) Unknown g.245026956_245026965dup - HNRNPU(NM_031844.2):c.651_660dupAGGCGGCGGA (p.G221Rfs*25) - HNRNPU_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.715G>A likely benign r.(?) p.(Gly239Ser) Unknown g.245026009C>T - HNRNPU(NM_004501.3):c.658G>A (p.(Gly220Ser), p.(Gly239Ser)) - HNRNPU_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.817C>T likely pathogenic r.(?) p.(Gln273*) Unknown g.245025823G>A - HNRNPU(NM_031844.2):c.817C>T (p.Gln273*) - HNRNPU_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.974del - r.(?) p.(Ala325Aspfs*14) Unknown g.245023680del - 974delC - HNRNPU_000002 - - - - Germline/De novo (untested) - - - 0 - DNA SEQ - - - - - - ? - (Germany) - - 0 - - 1 IMGAG
-?/. - c.1081A>G likely benign r.(?) p.(Ile361Val) Unknown g.245022613T>C - HNRNPU(NM_031844.2):c.1081A>G (p.I361V) - HNRNPU_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1132T>C likely pathogenic r.(?) p.(Ser378Pro) Unknown g.245022129A>G - HNRNPU(NM_031844.2):c.1132T>C (p.Ser378Pro) - HNRNPU_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1215G>A likely benign r.(?) p.(=) Unknown g.245022046C>T - HNRNPU(NM_031844.2):c.1215G>A (p.V405=) - HNRNPU_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1234T>G VUS r.(?) p.(Phe412Val) Unknown g.245021573A>C - HNRNPU(NM_031844.2):c.1234T>G (p.(Phe412Val)) - HNRNPU_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1268A>G likely benign r.(?) p.(Lys423Arg) Unknown g.245021539T>C - HNRNPU(NM_004501.3):c.1211A>G (p.(Lys404Arg), p.(Lys423Arg)) - HNRNPU_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1321G>A - r.(?) p.(Gly441Arg) Unknown g.245021486C>T g.244858184C>T - - HNRNPU_000001 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs377613329 Germline - 1/567 controls - 0 - DNA SEQ-NG - - Healthy/Control S_500:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - 1 Dheeraj Bobbili
-?/. - c.1743+8G>T likely benign r.(=) p.(=) Unknown g.245020022C>A - HNRNPU(NM_031844.2):c.1743+8G>T - HNRNPU_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1912+18T>C likely benign r.(=) p.(=) Unknown g.245019741A>G - HNRNPU(NM_031844.2):c.1912+18T>C - HNRNPU_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1913-1G>A pathogenic r.spl p.? Unknown g.245019461C>T - - - HNRNPU_000009 - - - - Unknown - - - 0 - DNA SEQ - - - - - - F - - - - 0 - - 1 IMGAG
-?/. - c.2204A>G likely benign r.(?) p.(Asn735Ser) Unknown g.245018874T>C - HNRNPU(NM_004501,NM_031844):c.2204A>G (p.(Asn735Ser)) - HNRNPU_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2206A>C VUS r.(?) p.(Met736Leu) Unknown g.245018872T>G - HNRNPU(NM_031844.2):c.2206A>C (p.(Met736Leu)) - HNRNPU_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2263C>T VUS r.(?) p.(Arg755Cys) Unknown g.245018815G>A - HNRNPU(NM_031844.2):c.2263C>T (p.Arg755Cys) - HNRNPU_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.2365C>T pathogenic r.(?) p.(Arg789*) Unknown g.245018334G>A - HNRNPU(NM_031844.2):c.2365C>T (p.R789*) - HNRNPU_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend