Full data view for gene ACTB

Information The variants shown are described using the NM_001101.3 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.587G>A r.(?) p.(Arg196His) Unknown - likely pathogenic g.5568127C>T g.5528496C>T ACTB(NM_001101.3):c.587G>A (p.R196H) - ACTB_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.587G>A r.(?) p.(Arg196His) Unknown - pathogenic (dominant) g.5568127C>T g.5528496C>T - - ACTB_000004 submitted through SIB; ExPASy_067813 PubMed: Rivière 2012 - - De novo - - - 0 - DNA SEQ - - BRWS 58248 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - 0 - - 1 Johan den Dunnen
+/. 4 c.587G>A r.(?) p.(Arg196His) Unknown - pathogenic (dominant) g.5568127C>T g.5528496C>T - - ACTB_000004 - PubMed: Rivière 2012 - - De novo - - - 0 - DNA SEQ - - BRWS 59169 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - 0 - - 1 Johan den Dunnen
+/. 4 c.587G>A r.(?) p.(Arg196His) Unknown - pathogenic (dominant) g.5568127C>T g.5528496C>T - - ACTB_000004 parents not available PubMed: Rivière 2012 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - BRWS LR04-173 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - 0 - - 1 Johan den Dunnen
+/. 4 c.587G>A r.(?) p.(Arg196His) Unknown - pathogenic (dominant) g.5568127C>T g.5528496C>T - - ACTB_000004 parents not available PubMed: Rivière 2012 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - BRWS LR09-079 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - 0 - - 1 Johan den Dunnen
+/. 4 c.587G>A r.(?) p.(Arg196His) Unknown - pathogenic (dominant) g.5568127C>T g.5528496C>T - - ACTB_000004 parents not available PubMed: Rivière 2012 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - BRWS LR06-298 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - 0 - - 1 Johan den Dunnen
+/. 4 c.587G>A r.(?) p.(Arg196His) Unknown - pathogenic (dominant) g.5568127C>T g.5528496C>T - - ACTB_000004 parents not available PubMed: Rivière 2012 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - BRWS 11-11287 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - 0 - - 1 Johan den Dunnen
+/. 4 c.587G>A r.(?) p.(Arg196His) Unknown - pathogenic (dominant) g.5568127C>T g.5528496C>T - - ACTB_000004 parents not available PubMed: Rivière 2012 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - BRWS 11-10211 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - 0 - - 1 Johan den Dunnen
+/. - c.587G>A r.(?) p.(Arg196His) Unknown - pathogenic (dominant) g.5568127C>T g.5528496C>T 586C>A (Arg196His) - ACTB_000004 - PubMed: Verloes 2015 ClinVar-SCV000148644 - Germline/De novo (untested) - - - 0 - DNA SEQ - - BRWS PatB21 PubMed: Verloes 2015 - - - - - - 0 - - 1 Johan den Dunnen
?/. 4 c.587G>A r.(?) p.(Arg196His) Unknown ACMG VUS g.5568127C>T g.5528496C>T - - ACTB_000004 - PubMed: Squeo 2020 - - Germline/De novo (untested) - - - 0 - DNA SEQ, SEQ-NG - 68-gene panel ? GDB1239 PubMed: Squeo 2020 analysis 263 cases chromatin-related disorder - - Italy - - 0 - - 1 Johan den Dunnen
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