Unique variants in 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.
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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.141C>T benign r.(?) p.(=) g.245027469G>A - HNRNPU(NM_031844.2):c.141C>T (p.A47=) - HNRNPU_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.198del pathogenic r.(?) p.(Ala67Leufs*40) g.245027413del - - - HNRNPU_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.268G>A likely benign r.(?) p.(Glu90Lys) g.245027342C>T - HNRNPU(NM_004501.3):c.268G>A (p.(Glu90Lys)) - HNRNPU_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.484C>T likely pathogenic r.(?) p.(Gln162*) g.245027126G>A - HNRNPU(NM_031844.2):c.484C>T (p.Q162*) - HNRNPU_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.511C>T pathogenic r.(?) p.(Gln171*) g.245027099G>A - HNRNPU(NM_031844.2):c.511C>T (p.Q171*) - HNRNPU_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.523C>T pathogenic r.(?) p.(Gln175*) g.245027087G>A - - - HNRNPU_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.643A>G likely benign r.(?) p.(Lys215Glu) g.245026967T>C - HNRNPU(NM_031844.2):c.643A>G (p.(Lys215Glu)) - HNRNPU_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.644A>C likely benign r.(?) p.(Lys215Thr) g.245026966T>G - HNRNPU(NM_031844.2):c.644A>C (p.(Lys215Thr)) - HNRNPU_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 2 - c.651_660dup pathogenic r.(?) p.(Gly221Argfs*25) g.245026956_245026965dup - HNRNPU(NM_031844.2):c.651_660dupAGGCGGCGGA (p.G221Rfs*25) - HNRNPU_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 1 - c.715G>A likely benign r.(?) p.(Gly239Ser) g.245026009C>T - HNRNPU(NM_004501.3):c.658G>A (p.(Gly220Ser)) - HNRNPU_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.817C>T likely pathogenic r.(?) p.(Gln273*) g.245025823G>A - - - HNRNPU_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.974del - r.(?) p.(Ala325Aspfs*14) g.245023680del - 974delC - HNRNPU_000002 - - - - Germline/De novo (untested) - - - - - IMGAG
-?/. 1 - c.1081A>G likely benign r.(?) p.(Ile361Val) g.245022613T>C - HNRNPU(NM_031844.2):c.1081A>G (p.I361V) - HNRNPU_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.1132T>C likely pathogenic r.(?) p.(Ser378Pro) g.245022129A>G - - - HNRNPU_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1215G>A likely benign r.(?) p.(=) g.245022046C>T - HNRNPU(NM_031844.2):c.1215G>A (p.V405=) - HNRNPU_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1234T>G likely benign r.(?) p.(Phe412Val) g.245021573A>C - - - HNRNPU_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1268A>G likely benign r.(?) p.(Lys423Arg) g.245021539T>C - HNRNPU(NM_004501.3):c.1211A>G (p.(Lys404Arg)) - HNRNPU_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
./. 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.1743+8G>T likely benign r.(=) p.(=) g.245020022C>A - HNRNPU(NM_031844.2):c.1743+8G>T - HNRNPU_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1912+18T>C likely benign r.(=) p.(=) g.245019741A>G - HNRNPU(NM_031844.2):c.1912+18T>C - HNRNPU_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.1913-1G>A pathogenic r.spl p.? g.245019461C>T - - - HNRNPU_000009 - - - - Unknown - - - - - IMGAG
-?/. 1 - c.2169C>T likely benign r.(?) p.(=) g.245018909G>A - HNRNPU(NM_031844.2):c.2169C>T (p.A723=) - HNRNPU_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2204A>G likely benign r.(?) p.(Asn735Ser) g.245018874T>C - - - HNRNPU_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2206A>C VUS r.(?) p.(Met736Leu) g.245018872T>G - - - HNRNPU_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2263C>T VUS r.(?) p.(Arg755Cys) g.245018815G>A - - - HNRNPU_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.2365C>T pathogenic r.(?) p.(Arg789*) g.245018334G>A - HNRNPU(NM_031844.2):c.2365C>T (p.R789*) - HNRNPU_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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