Full data view for gene CRNKL1

Information The variants shown are described using the NM_001278628.2 transcript reference sequence.

10 entries on 1 page. Showing entries 1 - 10.
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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.316C>T r.(?) p.(Arg106Cys) Unknown - likely pathogenic (dominant) g.20029126G>A g.20048482G>A NM_016652.6:c.799C>T (Arg267Cys) - CRNKL1_000003 - PubMed: Das 2025, Journal: Das 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - WES microcephaly Pat1 PubMed: Das 2025, Journal: Das 2025 2-generation family, 1 affected, unaffected non-carrier parents M - Germany - - - - - 1 Johan den Dunnen
+?/. - c.316C>T r.(?) p.(Arg106Cys) Unknown - likely pathogenic (dominant) g.20029126G>A g.20048482G>A NM_016652.6:c.799C>T (Arg267Cys) - CRNKL1_000003 - PubMed: Das 2025, Journal: Das 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - WES microcephaly Pat2 PubMed: Das 2025, Journal: Das 2025 2-generation family, 1 affected, unaffected non-carrier parents F - - Europe-N - - - - 1 Johan den Dunnen
+?/. - c.316C>T r.(?) p.(Arg106Cys) Unknown - likely pathogenic (dominant) g.20029126G>A g.20048482G>A NM_016652.6:c.799C>T (Arg267Cys) - CRNKL1_000003 - PubMed: Das 2025, Journal: Das 2025 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES microcephaly Pat3 PubMed: Das 2025, Journal: Das 2025 2-generation family, 1 affected, unaffected parents F - United States - - - - - 1 Johan den Dunnen
+?/. - c.317G>A r.(?) p.(Arg106His) Unknown - likely pathogenic (dominant) g.20029125C>T g.20048481C>T NM_016652.6:c.800G>A (Arg267His) - CRNKL1_000002 - PubMed: Das 2025, Journal: Das 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - WES microcephaly Pat4 PubMed: Das 2025, Journal: Das 2025 2-generation family, 1 affected, unaffected non-carrier parents F - New Zealand - - - - - 1 Johan den Dunnen
+?/. - c.317G>A r.(?) p.(Arg106His) Unknown - likely pathogenic (dominant) g.20029125C>T g.20048481C>T NM_016652.6:c.800G>A (Arg267His) - CRNKL1_000002 - PubMed: Das 2025, Journal: Das 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - WES microcephaly Pat5 PubMed: Das 2025, Journal: Das 2025 2-generation family, 1 affected, unaffected non-carrier parents M - Malaysia - - - - - 1 Johan den Dunnen
+?/. - c.317G>A r.(?) p.(Arg106His) Unknown - likely pathogenic (dominant) g.20029125C>T g.20048481C>T NM_016652.6:c.800G>A (Arg267His) - CRNKL1_000002 - PubMed: Das 2025, Journal: Das 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - WES microcephaly Pat6 PubMed: Das 2025, Journal: Das 2025 2-generation family, 1 affected, unaffected non-carrier parents F - Belgium - - - - - 1 Johan den Dunnen
+?/. - c.317G>A r.(?) p.(Arg106His) Unknown - likely pathogenic (dominant) g.20029125C>T g.20048481C>T NM_016652.6:c.800G>A (Arg267His) - CRNKL1_000002 - PubMed: Das 2025, Journal: Das 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - WES microcephaly Pat7 PubMed: Das 2025, Journal: Das 2025 2-generation family, 1 affected, unaffected non-carrier parents M - Japan - - - - - 1 Johan den Dunnen
+?/. - c.317G>A r.(?) p.(Arg106His) Unknown - likely pathogenic (dominant) g.20029125C>T g.20048481C>T NM_016652.6:c.800G>A (Arg267His) - CRNKL1_000002 - PubMed: Das 2025, Journal: Das 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - WES microcephaly Pat8 PubMed: Das 2025, Journal: Das 2025 2-generation family, 1 affected, unaffected non-carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. - c.317G>A r.(?) p.(Arg106His) Unknown - likely pathogenic (dominant) g.20029125C>T g.20048481C>T NM_016652.6:c.800G>A (Arg267His) - CRNKL1_000002 - PubMed: Das 2025, Journal: Das 2025 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES microcephaly Pat9 PubMed: Das 2025, Journal: Das 2025 2-generation family, 1 affected, unaffected parents M - Estonia - - - - - 1 Johan den Dunnen
+?/. - c.418C>G r.(?) p.(Arg140Gly) Unknown - likely pathogenic (dominant) g.20029024G>C g.20048380G>C NM_016652.6:c.901C>G (Arg301Gly) - CRNKL1_000001 - PubMed: Das 2025, Journal: Das 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - WES microcephaly Pat10 PubMed: Das 2025, Journal: Das 2025 2-generation family, 1 affected, unaffected non-carrier parents F - Malaysia - - - - - 1 Johan den Dunnen
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