All transcript variants in gene JMJD1C

Information The variants shown are described using the NM_004241.2 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
Legend  

Effect     

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     
?/. - c.302G>A VUS r.(?) p.(Ser101Asn) g.64975079C>T - JMJD1C(NM_032776.2):c.959G>A (p.S320N) - JMJD1C_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.735G>A likely benign r.(?) p.(=) g.64974535C>T - JMJD1C(NM_032776.2):c.1392G>A (p.S464=) - JMJD1C_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.1783C>T VUS r.(?) p.(Arg595*) g.64973487G>A - JMJD1C(NM_001282948,NM_032776):c.2440C>T (p.(Arg814*)) - JMJD1C_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.3523A>T VUS r.(?) p.(Thr1175Ser) g.64967249T>A - JMJD1C(NM_032776.2):c.4180A>T (p.T1394S) - JMJD1C_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.4415A>G VUS r.(?) p.(Asn1472Ser) g.64966357T>C - JMJD1C(NM_032776.2):c.5072A>G (p.N1691S) - JMJD1C_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
./. - c.5338G>C - r.(?) p.(Glu1780Gln) g.64952725C>G - NM_032776.2(JMJD1C):c.6049G>C p.(Glu2017Gln) - JMJD1C_000001 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - 0 - Marjolijn JL Ligtenberg
-?/. - c.5393A>C likely benign r.(?) p.(Gln1798Pro) g.64950841T>G - JMJD1C(NM_032776.2):c.6104A>C (p.Q2035P) - JMJD1C_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.5401G>C VUS r.(?) p.(Glu1801Gln) g.64950833C>G - JMJD1C(NM_032776.2):c.6112G>C (p.E2038Q) - JMJD1C_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.5401G>C VUS r.(?) p.(Glu1801Gln) g.64950833C>G - JMJD1C(NM_032776.2):c.6112G>C (p.E2038Q) - JMJD1C_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.5581-3T>C likely benign r.spl? p.? g.64949209A>G - JMJD1C(NM_032776.2):c.6292-3T>C - JMJD1C_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.5913G>A likely benign r.(?) p.(=) g.64946090C>T - JMJD1C(NM_032776.2):c.6624G>A (p.=) - JMJD1C_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.6365C>G VUS r.(?) p.(Ser2122*) g.64943215G>C - JMJD1C(NM_001282948,NM_032776):c.7076C>G (p.(Ser2359*)) - JMJD1C_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.6880G>A VUS r.(?) p.(Glu2294Lys) g.64927837C>T - JMJD1C(NM_032776.2):c.7591G>A (p.E2531K) - JMJD1C_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.6880G>A likely benign r.(?) p.(Glu2294Lys) g.64927837C>T - JMJD1C(NM_032776.2):c.7591G>A (p.E2531K) - JMJD1C_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
Legend