Unique variants in the CRADD gene

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

8 entries on 1 page. Showing entries 1 - 8.
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Effect     

Reported     

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     
-?/. 1 - c.45G>C r.(?) p.(Glu15Asp) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.151C>A r.(?) p.(Leu51Ile) - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
+/., ?/. 3 2 c.285dup r.(?) p.(Asp96Argfs*6), p.(Asp96ArgfsTer6) - pathogenic (recessive), VUS g.94072835dup g.93679059dup c.283_284insC, c.285dupC - CRADD_000009 - PubMed: Ganapathy 2019, PubMed: Santos-Cortez 2018 ClinVar-RCV000502270.1 - Germline - - - - - Johan den Dunnen
+?/. 5 - c.382G>C r.(?) p.(Gly128Arg) - 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) - - - LOVD
?/. 1 - c.428C>T r.(?) p.(Thr143Met) - 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 - - - - - VKGL-NL_Leiden
+/. 22 - c.509G>A r.(?) p.(Arg170His) - pathogenic (recessive) g.94243956G>A g.93850180G>A - - CRADD_000005 - - - - Germline yes - - - - Daniel Lôpo Polla
-?/. 1 - c.546C>T r.(?) p.(Asn182=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.597G>A r.(?) p.(Glu199=) - 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 - - - - - VKGL-NL_Rotterdam
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