Full data view for gene CHD1L

Information The variants shown are described using the NM_004284.4 transcript reference sequence.

22 entries on 1 page. Showing entries 1 - 22.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

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VIP     

Data_av     

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Panel size     

Owner     
./. - c.-961973_*2169522del r.? p.? Paternal (confirmed) - pathogenic g.145752381_148936712del - - - ACP6_000003 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected father/child F - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
./. - c.-948921_*1483783dup r.? p.? Paternal (confirmed) - pathogenic g.145765433_148250973dup - - - ACP6_000002 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
-?/. - c.21T>C r.(?) p.(=) Unknown - likely benign g.146714374T>C - CHD1L(NM_004284.6):c.21T>C (p.(Thr7=)) - CHD1L_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.240+2T>C r.spl? p.? Unknown - VUS g.146724392T>C - CHD1L(NM_004284.4):c.240+2T>C (p.?) - CHD1L_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.433C>T r.(?) p.(Arg145Cys) Unknown - likely benign g.146727553C>T g.147255898C>T CHD1L(NM_004284.5):c.433C>T (p.R145C), CHD1L(NM_004284.6):c.433C>T (p.(Arg145Cys)) - CHD1L_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.433C>T r.(?) p.(Arg145Cys) Unknown - likely benign g.146727553C>T - CHD1L(NM_004284.5):c.433C>T (p.R145C), CHD1L(NM_004284.6):c.433C>T (p.(Arg145Cys)) - CHD1L_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.504G>T r.(?) p.(Trp168Cys) Unknown - VUS g.146731500G>T - CHD1L(NM_004284.6):c.504G>T (p.W168C) - CHD1L_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.740-10del r.(=) p.(=) Unknown - likely benign g.146737581del - CHD1L(NM_004284.6):c.740-18delT - CHD1L_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.781C>T r.(?) p.(Arg261*) Unknown - likely benign g.146737632C>T - CHD1L(NM_004284.6):c.781C>T (p.(Arg261*)) - CHD1L_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.896-10T>G r.(=) p.(=) Unknown - likely benign g.146739075T>G - CHD1L(NM_004284.6):c.896-10T>G - CHD1L_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1160-13C>T r.(=) p.(=) Unknown - likely benign g.146743819C>T - CHD1L(NM_004284.6):c.1160-13C>T - CHD1L_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1386-2A>G r.spl? p.? Unknown - likely benign g.146747766A>G g.147276102A>G CHD1L(NM_001256336.1):c.1086-2A>G (p.?), CHD1L(NM_004284.6):c.1386-2A>G - CHD1L_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1386-2A>G r.spl? p.? Unknown - likely benign g.146747766A>G - CHD1L(NM_001256336.1):c.1086-2A>G (p.?), CHD1L(NM_004284.6):c.1386-2A>G - CHD1L_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1540-11C>G r.(=) p.(=) Unknown - likely benign g.146751688C>G - CHD1L(NM_004284.6):c.1540-11C>G - CHD1L_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1557A>C r.(?) p.(Lys519Asn) Unknown - VUS g.146751716A>C g.147280043A>C - - CHD1L_000004 - PubMed: Heidet 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 330-gene panel CAKUT K70 PubMed: Heidet 2017 fetus - - France - - - - - 1 Johan den Dunnen
?/. - c.1854+1G>A r.spl? p.? Unknown - VUS g.146756173G>A - CHD1L(NM_004284.4):c.1854+1G>A (p.?), CHD1L(NM_004284.6):c.1854+1G>A - CHD1L_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1854+1G>A r.spl? p.? Unknown - VUS g.146756173G>A - CHD1L(NM_004284.4):c.1854+1G>A (p.?), CHD1L(NM_004284.6):c.1854+1G>A - CHD1L_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1962A>G r.(?) p.(=) Unknown - likely benign g.146757108A>G - CHD1L(NM_004284.6):c.1962A>G (p.R654=) - CHD1L_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2098G>A r.(?) p.(Gly700Arg) Unknown - likely benign g.146758054G>A - CHD1L(NM_004284.6):c.2098G>A (p.G700R) - CHD1L_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2295A>G r.(?) p.(Ile765Met) Unknown - likely benign g.146759387A>G - CHD1L(NM_004284.6):c.2295A>G (p.I765M) - CHD1L_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2479A>G r.(?) p.(Ile827Val) Unknown - likely benign g.146765379A>G - CHD1L(NM_004284.6):c.2479A>G (p.I827V) - CHD1L_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2616-20T>G r.(=) p.(=) Unknown - benign g.146767092T>G - CHD1L(NM_004284.6):c.2616-20T>G - CHD1L_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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