Full data view for gene RAC2

Information The variants shown are described using the NM_002872.4 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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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.34G>A r.(?) p.(Gly12Arg) Unknown - pathogenic (dominant) g.37640155C>T - - - RAC2_000013 - PubMed: Lagresle-Peyrou 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - wgs IMD patient PubMed: Lagresle-Peyrou 2021 2 generation family, 1 affected, unaffected non carrier parents M - France - - - - - 1 Johan den Dunnen
+/. - c.34G>A r.(?) p.(Gly12Arg) Maternal (confirmed) - pathogenic (dominant) g.37640155C>T - - - RAC2_000013 variant de novo in mother PubMed: Lagresle-Peyrou 2021 - - Germline yes - - - - DNA SEQ, SEQ-NG - WGS IMD family 2 generation family, affected mother/daughter - F - France - - - - - 2 Johan den Dunnen
-?/. - c.35+16G>A r.(=) p.(=) Unknown - likely benign g.37640138C>T g.37244098C>T RAC2(NM_002872.3):c.35+16G>A - RAC2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.81C>G r.(=) p.(Ala27=) Unknown - benign g.37637653G>C g.37241613G>C - - RAC2_000017 - PubMed: Roos 2021, Journal: Roos 2021 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.101C>A r.(?) p.(Pro34His) Paternal (confirmed) - pathogenic (dominant) g.37637633G>T - C101A - RAC2_000012 - PubMed: Lougaris 2019 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES IMD family PubMed: Lougaris 2019 2-generation family, affected father and 2 daugthers F;M no - - - - - - 3 Johan den Dunnen
?/. - c.107+2572T>C r.(=) p.(=) Unknown - VUS g.37635055A>G g.37239015A>G - - RAC2_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.156C>T r.(?) p.(Asn52=) Unknown - likely benign g.37628910G>A g.37232870G>A RAC2(NM_002872.3):c.156C>T (p.N52=) - RAC2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.167G>A r.(?) p.(Trp56*) Both (homozygous) - pathogenic (recessive) g.37628899C>T g.37232859C>T W56X - RAC2_000008 - PubMed: Alkhairy 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES IMD family PubMed: Alkhairy 2015 2 generation family, affected sister/brother, unaffected heterozygous carrier mother, first-degree consanguineous parents F yes Iran - - - - - 2 Johan den Dunnen
+/. - c.169G>A r.(?) p.(Asp57Asn) Unknown - pathogenic (dominant) g.37628897C>T - GAC>AAC - RAC2_000009 - PubMed: Ambruso 2000, PubMed: Williams 2000 - - De novo - - - - - DNA SEQ - - IMD patient PubMed: Ambruso 2000, PubMed: Williams 2000 2 generation family, 1 affected, unaffected non carrier parents M - United States - - - - - 1 Johan den Dunnen
+/. - c.169G>A r.(?) p.(Asp57Asn) Unknown - pathogenic (dominant) g.37628897C>T - GAC>AAC - RAC2_000009 - PubMed: Accetta 2011 - - De novo - - - - - DNA SEQ - - IMD patient PubMed: Accetta 2011 2 generation family, 1 affected, unaffected non carrier parents M no United States - - - - - 1 Johan den Dunnen
+/. - c.169G>A r.(?) p.(Asp57Asn) Unknown - pathogenic (dominant) g.37628897C>T - - - RAC2_000009 - PubMed: Roos 2021 - - Unknown - - - - - DNA SEQ - - IMD patient PubMed: Roos 2021 - - - - - - - - - 1 Johan den Dunnen
+/. - c.182A>G r.(?) p.(Gln61Arg) Unknown - pathogenic (dominant) g.37628884T>C - - - RAC2_000014 - PubMed: Stern 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - gene panel SCID patient PubMed: Stern 2021 2 generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - - - - 1 Johan den Dunnen
+/. - c.184G>A r.(?) p.(Glu62Lys) Unknown - pathogenic (dominant) g.37628882C>T - - - RAC2_000010 - PubMed: Hsu 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES IMD Pat1 PubMed: Hsu 2019 - F - United States - - - - - 1 Johan den Dunnen
+/. - c.184G>A r.(?) p.(Glu62Lys) Unknown - pathogenic (dominant) g.37628882C>T - - - RAC2_000010 - PubMed: Hsu 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES IMD Pat2 PubMed: Hsu 2019 - F - United States - - - - - 1 Johan den Dunnen
+/. - c.184G>A r.(?) p.(Glu62Lys) Unknown - pathogenic (dominant) g.37628882C>T - - - RAC2_000010 - PubMed: Hsu 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES IMD Pat3 PubMed: Hsu 2019 - M - United States - - - - - 1 Johan den Dunnen
+/. - c.184G>A r.(?) p.(Glu62Lys) Paternal (confirmed) - pathogenic (dominant) g.37628882C>T - - - RAC2_000010 - PubMed: Roos 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES IMD family PubMed: Roos 2020 3-generation family, affected boy, father, grandfather M no Netherlands - - - - - 3 Johan den Dunnen
?/. - c.197G>A r.(?) p.(Arg66His) Unknown - VUS g.37628869C>T - - - RAC2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.224C>T r.(?) p.(Thr75Met) Unknown - VUS g.37628842G>A g.37232802G>A RAC2(NM_002872.3):c.224C>T (p.T75M) - RAC2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.252C>T r.(=) p.(Leu84=) Unknown - benign g.37628008G>A g.37231968G>A - - RAC2_000016 - PubMed: Roos 2021, Journal: Roos 2021 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.275A>C r.(?) p.(Asn92Thr) Unknown - pathogenic (dominant) g.37627985T>G - - - RAC2_000011 - PubMed: Sharapova 2019 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES IMD patient PubMed: Sharapova 2019 2 generation family, 1 affected, unaffected non carrier mother F no Ukraine - - - - - 1 Johan den Dunnen
-?/. - c.334C>T r.(?) p.(=) Unknown - likely benign g.37627385G>A - RAC2(NM_002872.5):c.334C>T (p.L112=) - RAC2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.347A>G r.(?) p.(Lys116Arg) Unknown - VUS g.37627372T>C g.37231332T>C RAC2(NM_002872.3):c.347A>G (p.K116R) - RAC2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.477T>C r.(=) p.(Ala159=) Unknown - benign g.37622815A>G g.37226775A>G - - RAC2_000015 - PubMed: Roos 2021, Journal: Roos 2021 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.501C>T r.(?) p.(Thr167=) Unknown - likely benign g.37622791G>A g.37226751G>A RAC2(NM_002872.3):c.501C>T (p.T167=) - RAC2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.507C>T r.(?) p.(Phe169=) Unknown - likely benign g.37622785G>A g.37226745G>A RAC2(NM_002872.3):c.507C>T (p.F169=) - RAC2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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