Full data view for gene JMJD1C

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

24 entries on 1 page. Showing entries 1 - 24.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.-105+3954T>A VUS r.(=) p.(=) Unknown g.65024469A>T - JMJD1C(NM_032776.2):c.389T>A (p.F130Y) - JMJD1C_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.302G>A VUS r.(?) p.(Ser101Asn) Unknown g.64975079C>T - JMJD1C(NM_032776.2):c.959G>A (p.S320N) - JMJD1C_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.735G>A likely benign r.(?) p.(=) Unknown g.64974535C>T - JMJD1C(NM_032776.2):c.1392G>A (p.S464=) - JMJD1C_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1114A>G - r.(?) p.(Met372Val) Unknown g.64974156T>C g.63214396T>C - - JMJD1C_000021 16 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs41274072 Germline - 16/2777 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 16 Mohammed Faruq
-/. - c.1253A>G - r.(?) p.(Lys418Arg) Unknown g.64974017T>C g.63214257T>C - - JMJD1C_000020 10 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs117647164 Germline - 10/2783 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 10 Mohammed Faruq
-/. - c.1292C>T - r.(?) p.(Thr431Ile) Unknown g.64973978G>A g.63214218G>A - - JMJD1C_000019 13 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs41274068 Germline - 13/2781 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 13 Mohammed Faruq
?/. - c.1783C>T VUS r.(?) p.(Arg595*) Unknown g.64973487G>A - - - JMJD1C_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1801G>T VUS r.(?) p.(Ala601Ser) Unknown g.64973469C>A - JMJD1C(NM_032776.2):c.2458G>T (p.A820S) - JMJD1C_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3523A>T VUS r.(?) p.(Thr1175Ser) Unknown g.64967249T>A - JMJD1C(NM_032776.2):c.4180A>T (p.T1394S) - JMJD1C_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4415A>G VUS r.(?) p.(Asn1472Ser) Unknown g.64966357T>C - JMJD1C(NM_032776.2):c.5072A>G (p.N1691S) - JMJD1C_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.5228C>T - r.(?) p.(Pro1743Leu) Unknown g.64952835G>A g.63193075G>A - - JMJD1C_000018 68 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs41274064 Germline - 68/2727 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 68 Mohammed Faruq
./. - c.5338G>C - r.(?) p.(Glu1780Gln) Unknown 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 - DNA SEQ-NG - - cancer, gastric Vogelaar-119A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - 0 - - 1 Marjolijn JL Ligtenberg
-?/. - c.5393A>C likely benign r.(?) p.(Gln1798Pro) Unknown g.64950841T>G - JMJD1C(NM_032776.2):c.6104A>C (p.Q2035P) - JMJD1C_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5401G>C VUS r.(?) p.(Glu1801Gln) Unknown g.64950833C>G - JMJD1C(NM_032776.2):c.6112G>C (p.E2038Q) - JMJD1C_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5401G>C VUS r.(?) p.(Glu1801Gln) Unknown g.64950833C>G - JMJD1C(NM_032776.2):c.6112G>C (p.E2038Q) - JMJD1C_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5581-3T>C likely benign r.spl? p.? Unknown g.64949209A>G - JMJD1C(NM_032776.2):c.6292-3T>C - JMJD1C_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5617G>A VUS r.(?) p.(Asp1873Asn) Unknown g.64949170C>T - JMJD1C(NM_032776.2):c.6328G>A (p.D2110N) - JMJD1C_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5690A>G VUS r.(?) p.(Glu1897Gly) Unknown g.64949097T>C - JMJD1C(NM_032776.2):c.6401A>G (p.E2134G) - JMJD1C_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5913G>A likely benign r.(?) p.(=) Unknown g.64946090C>T - JMJD1C(NM_032776.2):c.6624G>A (p.A2208=) - JMJD1C_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6365C>G VUS r.(?) p.(Ser2122*) Unknown g.64943215G>C - - - JMJD1C_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6879C>T likely benign r.(?) p.(=) Unknown g.64927838G>A - JMJD1C(NM_032776.2):c.7590C>T (p.H2530=) - JMJD1C_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6880G>A VUS r.(?) p.(Glu2294Lys) Unknown g.64927837C>T - JMJD1C(NM_032776.2):c.7591G>A (p.E2531K) - JMJD1C_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6880G>A likely benign r.(?) p.(Glu2294Lys) Unknown g.64927837C>T - JMJD1C(NM_032776.2):c.7591G>A (p.E2531K) - JMJD1C_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6880G>A - r.(?) p.(Glu2294Lys) Unknown g.64927837C>T g.63168077C>T - - JMJD1C_000003 10 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs71508957 Germline - 10/2785 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 10 Mohammed Faruq
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