Unique variants in gene STUB1

Information The variants shown are described using the NM_005861.2 transcript reference sequence.

22 entries on 1 page. Showing entries 1 - 22.
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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.-4145A>G likely benign r.(?) p.(=) g.726381A>G - RHBDL1(NM_001278720.1):c.85A>G (p.T29A) - RHBDL1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-3483A>C VUS r.(?) p.(=) g.727043A>C - RHBDL1(NM_001278720.1):c.499A>C (p.(Lys167Gln)) - RHBDL1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1A>G VUS r.(?) p.? g.730526A>G - STUB1(NM_005861.3):c.1A>G (p.M1?) - STUB1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.107T>C VUS r.(?) p.(Leu36Pro) g.730632T>C - STUB1(NM_005861.3):c.107T>C (p.L36P) - JMJD8_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 2 - c.146A>G VUS r.(?) p.(Tyr49Cys) g.730671A>G - STUB1(NM_005861.3):c.146A>G (p.Y49C) - JMJD8_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/. 1 - c.159+5G>A VUS r.spl? p.? g.730689G>A - - - JMJD8_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.196C>T VUS r.(?) p.(Arg66Trp) g.731188C>T - STUB1(NM_005861.3):c.196C>T (p.R66W) - STUB1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.326G>A likely benign r.(?) p.(Ser109Asn) g.731318G>A - STUB1(NM_005861.2):c.326G>A (p.(Ser109Asn)), STUB1(NM_005861.3):c.326G>A (p.S109N) - STUB1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.402C>T likely benign r.(?) p.(=) g.731481C>T - STUB1(NM_001293197.1):c.186C>T (p.D62=) - JMJD8_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.419G>A VUS r.(?) p.(Arg140Gln) g.731498G>A - STUB1(NM_001293197.1):c.203G>A (p.R68Q) - STUB1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 2 - c.433A>C VUS r.(?) p.(Lys145Gln) g.731512A>C - STUB1(NM_005861.2):c.433A>C (p.(Lys145Gln)), STUB1(NM_005861.3):c.433A>C (p.K145Q) - STUB1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.516G>A likely benign r.(?) p.(=) g.731595G>A - STUB1(NM_001293197.1):c.300G>A (p.E100=) - JMJD8_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.577G>A likely benign r.(?) p.(Val193Ile) g.731845G>A - STUB1(NM_001293197.1):c.361G>A (p.V121I) - JMJD8_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.580C>T VUS r.(?) p.(Arg194Trp) g.731848C>T - STUB1(NM_001293197.1):c.364C>T (p.R122W) - JMJD8_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.642T>C likely benign r.(?) p.(=) g.732049T>C - STUB1(NM_001293197.1):c.426T>C (p.L142=) - JMJD8_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.646dup pathogenic r.(?) p.(Ser216Phefs*5) g.732053dup - 646dupT - STUB1_000006 - - - - Germline/De novo (untested) - - - - - IMGAG
?/. 1 - c.722G>C VUS r.(?) p.(Arg241Pro) g.732217G>C - - - JMJD8_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.831G>A likely benign r.(?) p.(=) g.732408G>A - STUB1(NM_001293197.1):c.615G>A (p.Q205=) - JMJD8_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.841A>T VUS r.(?) p.(Ile281Phe) g.732418A>T - STUB1(NM_005861.3):c.841A>T (p.I281F) - JMJD8_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.874_875del VUS r.(?) p.(Ala292Ilefs*4) g.732451_732452del - STUB1(NM_001293197.1):c.658_659delGC (p.A220Ifs*4) - JMJD8_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*501G>A VUS r.(=) p.(=) g.732990G>A - JMJD8(NM_001323918.2):c.677C>T (p.S226F) - JMJD8_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*1764C>T likely benign r.(=) p.(=) g.734253C>T - JMJD8(NM_001323918.2):c.67G>A (p.A23T) - JMJD8_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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