All transcript variants in gene JMJD1C

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

33 entries on 1 page. Showing entries 1 - 33.
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Effect     

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     
+?/. - c.-197103T>C r.(?) p.(=) - - g.65225421A>G - - - chr10_005128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.-111767del r.(=) p.(=) ACMG VUS g.65140085del g.63380325del 326delC - JMJD1C_000025 - PubMed: Slavotinek 2020 - - Germline/De novo (untested) - - - 0 - Anne Slavotinek
?/. - c.-105+3914G>A r.(=) p.(=) ACMG VUS g.65024509C>T g.63264749C>T - - JMJD1C_000024 - PubMed: Slavotinek 2020 - - De novo - - - 0 - Anne Slavotinek
?/. - c.-105+3954T>A r.(=) p.(=) - VUS g.65024469A>T g.63264709A>T JMJD1C(NM_032776.2):c.389T>A (p.F130Y) - JMJD1C_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.302G>A r.(?) p.(Ser101Asn) - VUS g.64975079C>T g.63215319C>T JMJD1C(NM_032776.2):c.959G>A (p.S320N) - JMJD1C_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.425_441del r.(?) p.(Lys142Thrfs*4) ACMG VUS g.64974829_64974845del g.63215069_63215085del NM_001322252.1:c.1082_1098del17 (Lys361Thrfs*4) - JMJD1C_000026 description variant incorrect PubMed: Slavotinek 2020 - - De novo - - - 0 - Anne Slavotinek
?/. - c.443T>C r.(?) p.(Leu148Pro) ACMG VUS g.64974827A>G g.63215067A>G - - JMJD1C_000023 - PubMed: Slavotinek 2020 - - De novo - - - 0 - Anne Slavotinek
-?/. - c.735G>A r.(?) p.(Ser245=) - likely benign g.64974535C>T g.63214775C>T JMJD1C(NM_032776.2):c.1392G>A (p.S464=) - JMJD1C_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1114A>G r.(?) p.(Met372Val) - benign g.64974156T>C g.63214396T>C - - JMJD1C_000021 16 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs41274072 Germline - 16/2793 individuals - 0 - Mohammed Faruq
-/. - c.1253A>G r.(?) p.(Lys418Arg) - benign g.64974017T>C g.63214257T>C - - JMJD1C_000020 10 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs117647164 Germline - 10/2793 individuals - 0 - Mohammed Faruq
-/. - c.1292C>T r.(?) p.(Thr431Ile) - benign g.64973978G>A g.63214218G>A - - JMJD1C_000019 13 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs41274068 Germline - 13/2794 individuals - 0 - Mohammed Faruq
?/. - c.1783C>T r.(?) p.(Arg595Ter) - VUS g.64973487G>A g.63213727G>A - - JMJD1C_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1801G>T r.(?) p.(Ala601Ser) - VUS g.64973469C>A g.63213709C>A JMJD1C(NM_032776.2):c.2458G>T (p.A820S) - JMJD1C_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.2510_2550del r.(?) p.(Ser837Cysfs*10) ACMG VUS g.64968222_64968262del g.63208462_63208502del NM_001322252.1:c.3167_3207del41 (Ser1056Cysfs*10) - JMJD1C_000027 description variant incorrect PubMed: Slavotinek 2020 - - De novo - - - 0 - Anne Slavotinek
-?/. - c.2908T>C r.(?) p.(Leu970=) - - g.64967864A>G - JMJD1C(NM_032776.2):c.3565T>C (p.L1189=) - chr10_005127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.3523A>T r.(?) p.(Thr1175Ser) - VUS g.64967249T>A g.63207489T>A JMJD1C(NM_032776.2):c.4180A>T (p.T1394S) - JMJD1C_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.4415A>G r.(?) p.(Asn1472Ser) - VUS g.64966357T>C g.63206597T>C JMJD1C(NM_032776.2):c.5072A>G (p.N1691S) - JMJD1C_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. - c.4415A>G r.(?) p.(Asn1472Ser) ACMG VUS g.64966357T>C g.63206597T>C NM_001322252.2:c.5072A>G (Asn1691Ser) - JMJD1C_000013 description variant incorrect PubMed: Slavotinek 2020 - - De novo - - - 0 - Anne Slavotinek
?/. - c.5206-60T>G r.(?) p.(=) - VUS g.64952917A>C g.63193157A>C NM_001322252.1:c.5863-6T>G - JMJD1C_000028 - PubMed: Slavotinek 2020 - - De novo - - - 0 - Anne Slavotinek
-/. - c.5228C>T r.(?) p.(Pro1743Leu) - benign g.64952835G>A g.63193075G>A - - JMJD1C_000018 68 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs41274064 Germline - 68/2795 individuals - 0 - Mohammed Faruq
./. - c.5338G>C r.(?) p.(Glu1780Gln) - likely pathogenic g.64952725C>G g.63192965C>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 r.(?) p.(Gln1798Pro) - likely benign g.64950841T>G g.63191081T>G JMJD1C(NM_032776.2):c.6104A>C (p.Q2035P) - JMJD1C_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.5401G>C r.(?) p.(Glu1801Gln) - VUS g.64950833C>G g.63191073C>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 r.(?) p.(Glu1801Gln) - VUS g.64950833C>G g.63191073C>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 r.spl? p.? - likely benign g.64949209A>G g.63189449A>G JMJD1C(NM_032776.2):c.6292-3T>C - JMJD1C_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.5617G>A r.(?) p.(Asp1873Asn) - VUS g.64949170C>T g.63189410C>T JMJD1C(NM_032776.2):c.6328G>A (p.D2110N) - JMJD1C_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.5690A>G r.(?) p.(Glu1897Gly) - VUS g.64949097T>C g.63189337T>C JMJD1C(NM_032776.2):c.6401A>G (p.E2134G) - JMJD1C_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.5913G>A r.(?) p.(Ala1971=) - likely benign g.64946090C>T g.63186330C>T JMJD1C(NM_032776.2):c.6624G>A (p.A2208=) - JMJD1C_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.6365C>G r.(?) p.(Ser2122Ter) - VUS g.64943215G>C g.63183455G>C - - JMJD1C_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.6879C>T r.(?) p.(His2293=) - likely benign g.64927838G>A g.63168078G>A JMJD1C(NM_032776.2):c.7590C>T (p.H2530=) - JMJD1C_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.6880G>A r.(?) p.(Glu2294Lys) - VUS g.64927837C>T g.63168077C>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 r.(?) p.(Glu2294Lys) - likely benign g.64927837C>T g.63168077C>T JMJD1C(NM_032776.2):c.7591G>A (p.E2531K) - JMJD1C_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.6880G>A r.(?) p.(Glu2294Lys) - likely benign g.64927837C>T g.63168077C>T - - JMJD1C_000003 10 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs71508957 Germline - 10/2795 individuals - 0 - Mohammed Faruq
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