Unique variants in gene HNRNPU

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

34 entries on 1 page. Showing entries 1 - 34.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

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.? r.? p.? - pathogenic (recessive) g.? - - - NPHS2_000000 - PubMed: Sanchis-Juan 2018 - - De novo - - - - - Johan den Dunnen
-/. 1 - c.141C>T r.(?) p.(Ala47=) - benign g.245027469G>A g.244864167G>A HNRNPU(NM_031844.2):c.141C>T (p.A47=) - HNRNPU_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.198del r.(?) p.(Ala67LeufsTer40) - pathogenic g.245027413del g.244864111del - - HNRNPU_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.268G>A r.(?) p.(Glu90Lys) - likely benign g.245027342C>T g.244864040C>T HNRNPU(NM_004501.3):c.268G>A (p.(Glu90Lys)) - HNRNPU_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.471_472delinsCT r.(?) p.(His158Tyr) - likely pathogenic (dominant) g.245027138_245027139delinsAG - Tyr805* - HNRNPU_000033 - PubMed: Carvill 2013 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+?/. 1 - c.484C>T r.(?) p.(Gln162Ter) - likely pathogenic g.245027126G>A g.244863824G>A HNRNPU(NM_031844.2):c.484C>T (p.Q162*) - HNRNPU_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/., +?/. 2 - c.511C>T r.(?) p.(Gln171Ter), p.(Gln171*) - pathogenic, pathogenic (dominant) g.245027099G>A g.244863797G>A HNRNPU(NM_031844.2):c.511C>T (p.Q171*) - HNRNPU_000004 VKGL data sharing initiative Nederland PubMed: Hamdan 2015 - - CLASSIFICATION record, De novo - - - - - VKGL-NL_VUmc, Johan den Dunnen
+/. 1 - c.523C>T r.(?) p.(Gln175Ter) - pathogenic g.245027087G>A g.244863785G>A - - HNRNPU_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.643A>G r.(?) p.(Lys215Glu) - likely benign g.245026967T>C g.244863665T>C HNRNPU(NM_031844.2):c.643A>G (p.(Lys215Glu)) - HNRNPU_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.644A>C r.(?) p.(Lys215Thr) - likely benign g.245026966T>G g.244863664T>G HNRNPU(NM_031844.2):c.644A>C (p.(Lys215Thr)) - HNRNPU_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 2 - c.651_660dup r.(?) p.(Gly221ArgfsTer25) - pathogenic g.245026956_245026965dup g.244863654_244863663dup 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 r.(?) p.(Gly239Ser) - likely benign g.245026009C>T g.244862707C>T HNRNPU(NM_004501.3):c.658G>A (p.(Gly220Ser)) - HNRNPU_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.817C>T r.(?) p.(Gln273Ter) - likely pathogenic g.245025823G>A g.244862521G>A - - HNRNPU_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.971_973del r.(?) p.(Arg324_Ala325delinsThr) ACMG VUS g.245023681_245023683del g.244860379_244860381del 971_973delGAG - HNRNPU_000034 ACMG PM2, PM4; mother not available PubMed: Johannesen 2020 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 - c.974del r.(?) p.(Ala325Aspfs*14) - pathogenic g.245023680del g.244860378del 974delC - HNRNPU_000002 - - - - Germline/De novo (untested) - - - - - IMGAG
-?/. 1 - c.1081A>G r.(?) p.(Ile361Val) - likely benign g.245022613T>C g.244859311T>C HNRNPU(NM_031844.2):c.1081A>G (p.I361V) - HNRNPU_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.1132T>C r.(?) p.(Ser378Pro) - likely pathogenic g.245022129A>G g.244858827A>G - - HNRNPU_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1215G>A r.(?) p.(Val405=) - likely benign g.245022046C>T g.244858744C>T HNRNPU(NM_031844.2):c.1215G>A (p.V405=) - HNRNPU_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1234T>G r.(?) p.(Phe412Val) - likely benign g.245021573A>C g.244858271A>C - - HNRNPU_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1268A>G r.(?) p.(Lys423Arg) - likely benign g.245021539T>C g.244858237T>C HNRNPU(NM_004501.3):c.1211A>G (p.(Lys404Arg)) - HNRNPU_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
./. 1 - c.1321G>A r.(?) p.(Gly441Arg) - VUS g.245021486C>T g.244858184C>T - - HNRNPU_000001 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs377613329 Germline - 1/567 controls - - - Dheeraj Bobbili
?/. 1 - c.1435G>A r.(?) p.(Val479Ile) - VUS g.245021372C>T - HNRNPU(NM_031844.2):c.1435G>A (p.V479I) - HNRNPU_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1743+8G>T r.(=) p.(=) - likely benign g.245020022C>A g.244856720C>A HNRNPU(NM_031844.2):c.1743+8G>T - HNRNPU_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1912+18T>C r.(=) p.(=) - likely benign g.245019741A>G g.244856439A>G HNRNPU(NM_031844.2):c.1912+18T>C - HNRNPU_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.1913-1G>A r.spl p.? - pathogenic g.245019461C>T g.244856159C>T - - HNRNPU_000009 - - - - Unknown - - - - - IMGAG
?/. 1 - c.1919_1920del r.(?) p.(Phe640TyrfsTer7) - VUS g.245019454_245019455del g.244856152_244856153del HNRNPU(NM_031844.2):c.1919_1920delTT (p.F640Yfs*7) - HNRNPU_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2166A>C r.(?) p.(Gly722=) - likely benign g.245019207T>G g.244855905T>G HNRNPU(NM_031844.2):c.2166A>C (p.G722=) - HNRNPU_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.2166_2167+1del r.spl? p.? - likely benign g.245019212_245019214del g.244855910_244855912del HNRNPU(NM_031844.2):c.2166_2167+1delAGG - HNRNPU_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/., -/. 3 - c.2169C>T r.(?), r.(=) p.(Ala723=), p.(=) - likely benign, benign g.245018909G>A g.244855607G>A HNRNPU(NM_031844.2):c.2169C>T (p.A723=) - HNRNPU_000027 VKGL data sharing initiative Nederland, 5 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs11537737 CLASSIFICATION record, Germline - 5/2793 individuals - - - VKGL-NL_AMC, VKGL-NL_Nijmegen, Mohammed Faruq
-?/. 1 - c.2204A>G r.(?) p.(Asn735Ser) - likely benign g.245018874T>C g.244855572T>C - - HNRNPU_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.2206A>C r.(?) p.(Met736Leu) - VUS g.245018872T>G g.244855570T>G - - HNRNPU_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.2263C>T r.(?) p.(Arg755Cys) - VUS g.245018815G>A g.244855513G>A - - HNRNPU_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.2309A>G r.(?) p.(Asn770Ser) - likely benign g.245018769T>C g.244855467T>C - - HNRNPU_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.2365C>T r.(?) p.(Arg789Ter) - pathogenic g.245018334G>A g.244855032G>A HNRNPU(NM_031844.2):c.2365C>T (p.R789*) - HNRNPU_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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