Full data view for gene CHAMP1

Information The variants shown are described using the NM_032436.2 transcript reference sequence.

41 entries on 1 page. Showing entries 1 - 41.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.-178-6_-178-5del r.spl? p.? Unknown - benign g.115086579_115086580del g.114321104_114321105del CHAMP1(NM_032436.4):c.-178-6_-178-5delTT - CHAMP1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-178-5T>C r.spl? p.? Unknown - likely benign g.115086580T>C g.114321105T>C CHAMP1(NM_001164144.1):c.-175-5T>C (p.(=)) - CHAMP1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.38G>A r.(?) p.(Arg13His) Unknown - VUS g.115089355G>A g.114323880G>A CHAMP1(NM_001164144.1):c.38G>A (p.(Arg13His)) - CHAMP1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.520_522del r.(?) p.(Pro174del) Unknown - likely benign g.115089837_115089839del - CHAMP1(NM_001164144.3):c.520_522delCCT (p.P174del), CHAMP1(NM_032436.2):c.520_522delCCT (p.(Pro174del)) - CHAMP1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.520_522del r.(?) p.(Pro174del) Unknown - likely benign g.115089837_115089839del - CHAMP1(NM_001164144.3):c.520_522delCCT (p.P174del), CHAMP1(NM_032436.2):c.520_522delCCT (p.(Pro174del)) - CHAMP1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.635del r.(?) p.(Pro212Leufs*7) Unknown - likely pathogenic g.115089952del g.114324477del 635delC - CHAMP1_000001 - PubMed: Hempel 2015, Journal: Hempel 2015 - - De novo yes - - - - DNA SEQ-NG-I whole-blood - ID - PubMed: Hempel 2015, Journal: Hempel 2015 - F no Netherlands Dutch - - - - 1 Davor Lessel
-?/. - c.915C>T r.(?) p.(Pro305=) Unknown - likely benign g.115090232C>T g.114324757C>T CHAMP1(NM_032436.3):c.915C>T (p.P305=) - CHAMP1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.916G>C r.(?) p.(Ala306Pro) Unknown - benign g.115090233G>C - - - CHAMP1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.958_959del r.(?) p.(Pro320*) Unknown - pathogenic g.115090275_115090276del g.114324800_114324801del 958_959delCC - CHAMP1_000005 de novo in patient PubMed: Isidor 2016, Journal: Isidor 2016 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ID - PubMed: Isidor 2016, Journal: Isidor 2016 - F no United Kingdom (Great Britain) - - - - - 1 Sébastien Küry
+?/. - c.969G>A r.(?) p.(Trp323Ter) Unknown - likely pathogenic g.115090286G>A - - - CHAMP1_000028 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1001G>A r.(?) p.(Trp334Ter) Unknown - pathogenic g.115090318G>A - CHAMP1(NM_032436.4):c.1001G>A (p.W334*) - CHAMP1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.1002G>A r.(?) p.(Trp334*) Unknown - pathogenic g.115090319G>A g.114324844G>A - - CHAMP1_000006 de novo in patient PubMed: Isidor 2016, Journal: Isidor 2016 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ID - PubMed: Isidor 2016, Journal: Isidor 2016 healthy younger brother M no United Kingdom (Great Britain) - - - - - 1 Sébastien Küry
+/. 3 c.1002G>A r.(?) p.(Trp334*) Unknown - pathogenic g.115090319G>A g.114324844G>A - - CHAMP1_000006 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+/. 3 c.1043G>A r.(?) p.(Trp348*) Unknown - pathogenic g.115090360G>A g.114324885G>A - - CHAMP1_000007 de novo in patient PubMed: Isidor 2016, Journal: Isidor 2016 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ID - PubMed: Isidor 2016, Journal: Isidor 2016 - M no United States - - - - - 1 Sébastien Küry
+/. - c.1077G>A r.(?) p.(Trp359Ter) Unknown - pathogenic g.115090394G>A - - - CHAMP1_000027 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
+?/. 3 c.1192C>T r.(?) p.(Arg398*) Unknown - likely pathogenic g.115090509C>T g.114325034C>T - - CHAMP1_000002 - PubMed: Hempel 2015, Journal: Hempel 2015 - - De novo yes - - - - DNA SEQ-NG-I whole-blood - ID - PubMed: Hempel 2015, Journal: Hempel 2015 - M no Netherlands Dutch - - - - 1 Davor Lessel
+?/. 3 c.1192C>T r.(?) p.(Arg398*) Unknown - likely pathogenic g.115090509C>T g.114325034C>T - - CHAMP1_000002 - PubMed: Hempel 2015, Journal: Hempel 2015 - - De novo yes - - - - DNA SEQ-NG-I whole-blood - ID - PubMed: Hempel 2015, Journal: Hempel 2015 - F no Germany German - - - - 1 Davor Lessel
+?/. - c.1192C>T r.(?) p.(Arg398Ter) Unknown - likely pathogenic g.115090509C>T g.114325034C>T CHAMP1(NM_032436.4):c.1192C>T (p.R398*) - CHAMP1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1209G>C r.(?) p.(Thr403=) Unknown - likely benign g.115090526G>C - CHAMP1(NM_032436.3):c.1209G>C (p.T403=) - CHAMP1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1366C>T r.(?) p.(Arg456Trp) Unknown - likely benign g.115090683C>T - CHAMP1(NM_032436.2):c.1366C>T (p.(Arg456Trp)) - CHAMP1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1414T>G r.(?) p.(Ser472Ala) Unknown - likely benign g.115090731T>G - CHAMP1(NM_032436.3):c.1414T>G (p.S472A) - CHAMP1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.1489C>T r.(?) p.(Arg497*) Unknown - pathogenic g.115090806C>T g.114325331C>T - - CHAMP1_000008 de novo in patient PubMed: Isidor 2016, Journal: Isidor 2016 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ID - PubMed: Isidor 2016, Journal: Isidor 2016 healthy younger sister F no United Kingdom (Great Britain) - - - - - 1 Sébastien Küry
+/. 3 c.1489C>T r.(?) p.(Arg497*) Unknown - pathogenic g.115090806C>T g.114325331C>T - - CHAMP1_000008 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 affected, unknown family members F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+/. - c.1489C>T r.(?) p.(Arg497Ter) Unknown - pathogenic g.115090806C>T g.114325331C>T - - CHAMP1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.1559_1560del r.(1559_1560del) p.(Ser520Tyrfs*4) Unknown ACMG pathogenic (dominant) g.115090876_115090877del g.114325401_114325402del - - CHAMP1_000039 ACMG: PVS1-strong,PS1-strong,PM2-supporting, confirmed de novo in at least 2 individuals - VCV000985766.4 - De novo - - - - - DNA SEQ-NG-I Blood - NEDHILD;MRD40 342127 - - M no Bosnia and Herzegovina - - - - - 1 Andreas Laner
?/. - c.1606A>C r.(?) p.(Lys536Gln) Unknown - VUS g.115090923A>C - CHAMP1(NM_032436.2):c.1606A>C (p.(Lys536Gln)) - CHAMP1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1661C>T r.(?) p.(Pro554Leu) Unknown - VUS g.115090978C>T g.114325503C>T CHAMP1(NM_001164144.1):c.1661C>T (p.(Pro554Leu)) - CHAMP1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.1768C>T r.(?) p.(Gln590*) Unknown - likely pathogenic g.115091085C>T g.114325610C>T - - CHAMP1_000003 - PubMed: Hempel 2015, Journal: Hempel 2015 - - De novo yes - - - - DNA SEQ-NG-S whole-blood - ID - PubMed: Hempel 2015, Journal: Hempel 2015 - M no Netherlands Dutch - - - - 1 Davor Lessel
+/. - c.1865_1866del r.(?) p.(Asp622Glufs*8) Unknown - pathogenic (dominant) g.115091182_115091183del - 1865_1866delAC - CHAMP1_000026 - PubMed: Mahler 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? Pat18 PubMed: Mahler 2019 2-generation family, 1 affected, unaffected non-carrier parents - no Germany - - - - - 1 Johan den Dunnen
+?/. 3 c.1866_1867del r.(?) p.(Asp622Glufs*8) Unknown - likely pathogenic g.115091183_115091184del g.114325708_114325709del 1866_1867delCA - CHAMP1_000004 - PubMed: Hempel 2015, Journal: Hempel 2015 - - De novo yes - - - - DNA SEQ whole-blood - ID - PubMed: Hempel 2015, Journal: Hempel 2015 - M no Germany Germany - - - - 1 Davor Lessel
+/. 3 c.1876_1877del r.(?) p.(Ser626Leufs*4) Unknown - pathogenic (!) g.115091193_115091194del g.114325718_114325719del 1876_1877delAG - CHAMP1_000009 de novo in patient; acc. Hamdan GABRB2 variant is likely pathogenic PubMed: Isidor 2016, Journal: Isidor 2016, PubMed: Hamdan 2017 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ID Fam3PatII1;1242500 PubMed: Isidor 2016, Journal: Isidor 2016, PubMed: Hamdan 2017 - F no United States - - - - - 1 Sébastien Küry
+/. 3 c.1880C>G r.(?) p.(Ser627*) Unknown - pathogenic g.115091197C>G g.114325722C>G - - CHAMP1_000010 de novo variant in patient PubMed: Isidor 2016, Journal: Isidor 2016 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ID - PubMed: Isidor 2016, Journal: Isidor 2016 - M no France - - - - - 1 Sébastien Küry
-?/. - c.1902T>C r.(?) p.(Ser634=) Unknown - likely benign g.115091219T>C - CHAMP1(NM_032436.3):c.1902T>C (p.S634=) - CHAMP1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1903_1906del r.(?) p.(Glu635ThrfsTer2) Unknown - likely pathogenic (dominant) g.115091220_115091223del g.114325745_114325748del - - CHAMP1_000033 - PubMed: Poli 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? Pat45 PubMed: Poli 2024 - F - Chile - - - - - 1 Johan den Dunnen
-?/. - c.1910T>C r.(?) p.(Ile637Thr) Unknown - likely benign g.115091227T>C - CHAMP1(NM_001164144.1):c.1910T>C (p.(Ile637Thr)) - CHAMP1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1943G>T r.(?) p.(Gly648Val) Maternal (confirmed) - VUS g.115091260G>T g.114325785G>T - - CHAMP1_000032 - PubMed: Rots 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Pat84 PubMed: Rots 2023 family, has father M - - - - - - - 1 Johan den Dunnen
+/. - c.1969C>T r.(?) p.(Gln657Ter) Unknown - pathogenic g.115091286C>T g.114325811C>T CHAMP1(NM_032436.4):c.1969C>T (p.Q657*) - CHAMP1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2007C>G r.(?) p.(Asn669Lys) Unknown - likely benign g.115091324C>G - CHAMP1(NM_001164144.1):c.2007C>G (p.(Asn669Lys)) - CHAMP1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2193G>A r.(?) p.(Lys731=) Unknown - likely benign g.115091510G>A g.114326035G>A CHAMP1(NM_032436.3):c.2193G>A (p.K731=) - CHAMP1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2306G>A r.(?) p.(Arg769His) Unknown - likely benign g.115091623G>A - CHAMP1(NM_001164144.1):c.2306G>A (p.(Arg769His)) - CHAMP1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2356C>T r.(?) p.(His786Tyr) Unknown - VUS g.115091673C>T - - - CHAMP1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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