Full data view for gene CRADD

Information The variants shown are described using the NM_003805.3 transcript reference sequence.

36 entries on 1 page. Showing entries 1 - 36.
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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.45G>C r.(?) p.(Glu15Asp) Unknown - likely benign g.94072595G>C g.93678819G>C CRADD(NM_003805.4):c.45G>C (p.E15D) - CRADD_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.151C>A r.(?) p.(Leu51Ile) Unknown - likely benign g.94072701C>A g.93678925C>A CRADD(NM_001320099.1):c.151C>A (p.L51I), CRADD(NM_003805.5):c.151C>A (p.L51I) - CRADD_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.151C>A r.(?) p.(Leu51Ile) Unknown - likely benign g.94072701C>A - CRADD(NM_001320099.1):c.151C>A (p.L51I), CRADD(NM_003805.5):c.151C>A (p.L51I) - CRADD_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.285dup r.(?) p.(Asp96Argfs*6) Both (homozygous) - pathogenic (recessive) g.94072835dup g.93679059dup c.283_284insC - CRADD_000009 - PubMed: Santos-Cortez 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES ID FamMR123Pat3 PubMed: Santos-Cortez 2018 4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives M yes Pakistan - - 0 - - 3 Johan den Dunnen
+/. - c.285dup r.(?) p.(Asp96Argfs*6) Both (homozygous) - pathogenic (recessive) g.94072835dup g.93679059dup c.283_284insC - CRADD_000009 - PubMed: Santos-Cortez 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES ID FamMR123Pat5 PubMed: Santos-Cortez 2018 - M yes Pakistan - - 0 - - 1 Johan den Dunnen
?/. 2 c.285dup r.(?) p.(Asp96ArgfsTer6) Both (homozygous) - VUS g.94072835dup g.93679059dup c.285dupC - CRADD_000009 - PubMed: Ganapathy 2019 ClinVar-RCV000502270.1 - Germline - - - 0 - DNA SEQ-NG - TruSight One panel ? S-3540 PubMed: Ganapathy 2019 - - - India - - 0 - - 1 Johan den Dunnen
+?/. - c.382G>C r.(?) p.(Gly128Arg) Both (homozygous) - likely pathogenic g.94243829G>C g.93850053G>C CRADD c.382G>C, p.Gly128Arg - CRADD_000010 homozygous PubMed: Puffenberger 2012 - - Germline yes population-specific allele frequency: 1.72% (7/406) - 0 - DNA arraySNP, SEQ-NG, SEQ blood targeted gene analysis or a next-generation sequencing-based gene panel MR;ID 5 PubMed: Puffenberger 2012 no patient number in publication, consecutive numbers given ? - - Old Order Amish and Mennonite - 0 - - 1 LOVD
+?/. - c.382G>C r.(?) p.(Gly128Arg) Both (homozygous) - likely pathogenic g.94243829G>C g.93850053G>C CRADD c.382G>C, p.Gly128Arg - CRADD_000010 homozygous PubMed: Puffenberger 2012 - - Germline yes population-specific allele frequency: 1.72% (7/406) - 0 - DNA arraySNP, SEQ-NG, SEQ blood targeted gene analysis or a next-generation sequencing-based gene panel MR;ID 6 PubMed: Puffenberger 2012 no patient number in publication, consecutive numbers given ? - - Old Order Amish and Mennonite - 0 - - 1 LOVD
+?/. - c.382G>C r.(?) p.(Gly128Arg) Both (homozygous) - likely pathogenic g.94243829G>C g.93850053G>C CRADD c.382G>C, p.Gly128Arg - CRADD_000010 homozygous PubMed: Puffenberger 2012 - - Germline yes population-specific allele frequency: 1.72% (7/406) - 0 - DNA arraySNP, SEQ-NG, SEQ blood targeted gene analysis or a next-generation sequencing-based gene panel MR;ID 7 PubMed: Puffenberger 2012 no patient number in publication, consecutive numbers given ? - - Old Order Amish and Mennonite - 0 - - 1 LOVD
+?/. - c.382G>C r.(?) p.(Gly128Arg) Both (homozygous) - likely pathogenic g.94243829G>C g.93850053G>C CRADD c.382G>C, p.Gly128Arg - CRADD_000010 homozygous PubMed: Puffenberger 2012 - - Germline yes population-specific allele frequency: 1.72% (7/406) - 0 - DNA arraySNP, SEQ-NG, SEQ blood targeted gene analysis or a next-generation sequencing-based gene panel MR;ID 8 PubMed: Puffenberger 2012 no patient number in publication, consecutive numbers given ? - - Old Order Amish and Mennonite - 0 - - 1 LOVD
+?/. - c.382G>C r.(?) p.(Gly128Arg) Both (homozygous) - likely pathogenic g.94243829G>C g.93850053G>C CRADD c.382G>C, p.Gly128Arg - CRADD_000010 homozygous PubMed: Puffenberger 2012 - - Germline yes population-specific allele frequency: 1.72% (7/406) - 0 - DNA arraySNP, SEQ-NG, SEQ blood targeted gene analysis or a next-generation sequencing-based gene panel MR;ID 9 PubMed: Puffenberger 2012 no patient number in publication, consecutive numbers given ? - - Old Order Amish and Mennonite - 0 - - 1 LOVD
?/. - c.428C>T r.(?) p.(Thr143Met) Unknown - VUS g.94243875C>T g.93850099C>T CRADD(NM_003805.3):c.428C>T (p.(Thr143Met)) - CRADD_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.509G>A r.(?) p.(Arg170His) Both (homozygous) - pathogenic (recessive) g.94243956G>A g.93850180G>A - - CRADD_000005 - - - - Germline yes - - 0 - DNA SEQ-NG - - MRT34 FIN-1_IX-1 - - F yes Finland - - 0 - - 2 Daniel Lôpo Polla
+/. - c.509G>A r.(?) p.(Arg170His) Both (homozygous) - pathogenic (recessive) g.94243956G>A g.93850180G>A - - CRADD_000005 - - - - Germline yes - - 0 - DNA SEQ-NG - - MRT34 FIN-1_IX-2 - - F yes Finland - - 0 - - 1 Daniel Lôpo Polla
+/. - c.509G>A r.(?) p.(Arg170His) Both (homozygous) - pathogenic (recessive) g.94243956G>A g.93850180G>A - - CRADD_000005 - - - - Germline yes - - - - DNA SEQ-NG - - MRT34 FIN-2_IX-4 - - F no Finland - - - - - 2 Daniel Lôpo Polla
+/. - c.509G>A r.(?) p.(Arg170His) Both (homozygous) - pathogenic (recessive) g.94243956G>A g.93850180G>A - - CRADD_000005 - - - - Germline yes - - - - DNA SEQ-NG - - MRT34 FIN-2_ IX-6 - - F no Finland - - - - - 1 Daniel Lôpo Polla
+/. - c.509G>A r.(?) p.(Arg170His) Both (homozygous) - pathogenic (recessive) g.94243956G>A g.93850180G>A - - CRADD_000005 - - - - Germline yes - - - - DNA PCR - - MRT34 FIN-3_ V-5 - - M yes Finland - - - - - 3 Daniel Lôpo Polla
+/. - c.509G>A r.(?) p.(Arg170His) Both (homozygous) - pathogenic (recessive) g.94243956G>A g.93850180G>A - - CRADD_000005 - - - - Germline yes - - - - DNA PCR - - MRT34 FIN-3_ V-6 - - F yes Finland - - - - - 1 Daniel Lôpo Polla
+/. - c.509G>A r.(?) p.(Arg170His) Both (homozygous) - pathogenic (recessive) g.94243956G>A g.93850180G>A - - CRADD_000005 - - - - Germline yes - - - - DNA PCR - - MRT34 FIN-3_ V-8 - - M yes Finland - - - - - 1 Daniel Lôpo Polla
+/. - c.509G>A r.(?) p.(Arg170His) Both (homozygous) - pathogenic (recessive) g.94243956G>A g.93850180G>A - - CRADD_000005 - - - - Germline yes - - - - DNA PCR - - MRT34 FIN-4_ IX-8 - - M no Finland - - - - - 1 Daniel Lôpo Polla
+/. - c.509G>A r.(?) p.(Arg170His) Both (homozygous) - pathogenic (recessive) g.94243956G>A g.93850180G>A - - CRADD_000005 - - - - Germline yes - - - - DNA PCR - - MRT34 FIN-5_ IX-4 - - M no Finland - - - - - 1 Daniel Lôpo Polla
+/. - c.509G>A r.(?) p.(Arg170His) Both (homozygous) - pathogenic (recessive) g.94243956G>A g.93850180G>A - - CRADD_000005 - - - - Germline yes - - - - DNA PCR - - MRT34 FIN-6_ IX-10 - - M no Finland - - - - - 1 Daniel Lôpo Polla
+/. - c.509G>A r.(?) p.(Arg170His) Both (homozygous) - pathogenic (recessive) g.94243956G>A g.93850180G>A - - CRADD_000005 - - - - Germline yes - - - - DNA PCR - - MRT34 FIN-7_ II-1 - - F no Finland - - - - - 1 Daniel Lôpo Polla
+/. - c.509G>A r.(?) p.(Arg170His) Both (homozygous) - pathogenic (recessive) g.94243956G>A g.93850180G>A - - CRADD_000005 - - - - Germline yes - - - - DNA PCR - - MRT34 FIN-8_ III-1 - - F yes Finland - - - - - 1 Daniel Lôpo Polla
+/. - c.509G>A r.(?) p.(Arg170His) Both (homozygous) - pathogenic (recessive) g.94243956G>A g.93850180G>A - - CRADD_000005 - - - - Germline yes - - - - DNA PCR - - MRT34 FIN-9_ III-4 - - F no Finland - - - - - 1 Daniel Lôpo Polla
+/. - c.509G>A r.(?) p.(Arg170His) Both (homozygous) - pathogenic (recessive) g.94243956G>A g.93850180G>A - - CRADD_000005 - - - - Germline yes - - - - DNA PCR - - MRT34 FIN-10_ IX-6 - - F no Finland - - - - - 1 Daniel Lôpo Polla
+/. - c.509G>A r.(?) p.(Arg170His) Both (homozygous) - pathogenic (recessive) g.94243956G>A g.93850180G>A - - CRADD_000005 - - - - Germline yes - - - - DNA PCR - - MRT34 FIN-11_ III-1 - - F no Finland - - - - - 2 Daniel Lôpo Polla
+/. - c.509G>A r.(?) p.(Arg170His) Both (homozygous) - pathogenic (recessive) g.94243956G>A g.93850180G>A - - CRADD_000005 - - - - Germline yes - - - - DNA PCR - - MRT34 FIN-11_ III-3 - - F no Finland - - - - - 1 Daniel Lôpo Polla
+/. - c.509G>A r.(?) p.(Arg170His) Both (homozygous) - pathogenic (recessive) g.94243956G>A g.93850180G>A - - CRADD_000005 - - - - Germline yes - - - - DNA PCR - - MRT34 FIN-12_VII-1 - - M no Finland - - - - - 1 Daniel Lôpo Polla
+/. - c.509G>A r.(?) p.(Arg170His) Both (homozygous) - pathogenic (recessive) g.94243956G>A g.93850180G>A - - CRADD_000005 - - - - Germline yes - - - - DNA PCR - - MRT34 FIN-13_ VIII-2 - - M no Finland - - - - - 2 Daniel Lôpo Polla
+/. - c.509G>A r.(?) p.(Arg170His) Both (homozygous) - pathogenic (recessive) g.94243956G>A g.93850180G>A - - CRADD_000005 - - - - Germline yes - - - - DNA PCR - - MRT34 FIN-13_ VIII-3 - - M no Finland - - - - - 1 Daniel Lôpo Polla
+/. - c.509G>A r.(?) p.(Arg170His) Both (homozygous) - pathogenic (recessive) g.94243956G>A g.93850180G>A - - CRADD_000005 - - - - Germline yes - - - - DNA PCR - - MRT34 FIN-14_VIII-9 - - F no Finland - - - - - 1 Daniel Lôpo Polla
+/. - c.509G>A r.(?) p.(Arg170His) Both (homozygous) - pathogenic (recessive) g.94243956G>A g.93850180G>A - - CRADD_000005 - - - - Germline yes - - 0 - DNA PCR - - MRT34 FIN-15_ II-2 PubMed: Avela 2012 family, 2 affected brothers M no Finland - - 0 - - 2 Daniel Lôpo Polla
+/. - c.509G>A r.(?) p.(Arg170His) Both (homozygous) - pathogenic (recessive) g.94243956G>A g.93850180G>A - - CRADD_000005 - - - - Germline yes - - 0 - DNA PCR - - MRT34 FIN-15_ II-3 PubMed: Avela 2012 - M no Finland - - 0 - - 1 Daniel Lôpo Polla
-?/. - c.546C>T r.(?) p.(Asn182=) Unknown - likely benign g.94243993C>T g.93850217C>T CRADD(NM_001320099.1):c.546C>T (p.N182=) - CRADD_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.597G>A r.(?) p.(Glu199=) Unknown - likely benign g.94244044G>A g.93850268G>A CRADD(NM_001320099.1):c.597G>A (p.E199=) - CRADD_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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