Full data view for gene RAC3

Information The variants shown are described using the NM_005052.2 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
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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.-3718G>A r.(?) p.(=) Unknown - likely benign g.79985920G>A - LRRC45(NM_144999.4):c.945G>A (p.(Ser315=)) - RAC3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2223G>C r.(?) p.(=) Unknown - likely benign g.79987415G>C - LRRC45(NM_144999.2):c.1402-4G>C (p.?) - RAC3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.34G>C r.(?) p.(Gly12Arg) Unknown - likely pathogenic (dominant) g.79989671G>C g.82031795G>C - - RAC3_000005 - PubMed: Scala 2022 - - De novo - - - - - DNA, RNA arrayCGH, SEQ, SEQ-NG - trioWGS NDD Pat5 PubMed: Scala 2022 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.34G>C r.(?) p.(Gly12Arg) Unknown - likely pathogenic (dominant) g.79989671G>C g.82031795G>C - - RAC3_000005 - PubMed: Scala 2022 - - De novo - - - - - DNA arrayCGH, SEQ, SEQ-NG - trio WES NDD Pat10 PubMed: Scala 2022 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.83T>C r.(?) p.(Phe28Ser) Unknown ACMG pathogenic g.79990310T>C - - - RAC3_000002 - - - - De novo yes - - - - DNA SEQ-NG - - NEDBAF - - - F - - - - - - - 1 Marcello Scala
+?/. - c.86C>T r.(?) p.(Pro29Leu) Unknown - likely pathogenic (dominant) g.79990313C>T g.82032437C>T - - RAC3_000006 - PubMed: Costain 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD FamIIPat1 PubMed: Costain 2019 2-generation family, 1 affected, unaffected non-carrier parents M - Belgium Europe;white - - - - 1 Johan den Dunnen
+?/. - c.101C>G r.(?) p.(Pro34Arg) Unknown - likely pathogenic (dominant) g.79990328C>G g.82032452C>G - - RAC3_000007 - PubMed: Hiraide 2019, PubMed: Scala 2022 - - De novo - - - - - DNA arrayCGH, SEQ, SEQ-NG - - NDD patient PubMed: Hiraide 2019, PubMed: Scala 2022 2-generation family, 1 affected, unaffected non-carrier parents M - Japan - - - - - 1 Johan den Dunnen
+?/. - c.176C>G r.(?) p.(Ala59Gly) Unknown - likely pathogenic (recessive) g.79990655C>G g.82032779C>G - - RAC3_000001 - PubMed: White 2018 - - De novo - - - - - DNA SEQ - WES RRS BAB8740 PubMed: White 2018 - F no - - - - - - 1 Johan den Dunnen
+/. - c.176C>G r.(?) p.(Ala59Gly) Unknown - pathogenic g.79990655C>G - - - RAC3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.179G>A r.(?) p.(Gly60Asp) Unknown - likely pathogenic (dominant) g.79990658G>A g.82032782G>A - - RAC3_000008 - PubMed: Scala 2022 - - De novo - - - - - DNA arrayCGH, SEQ, SEQ-NG - WES NDD Pat4 PubMed: Scala 2022 2-generation family, 2 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.182A>T r.(?) p.(Gln61Leu) Unknown - pathogenic (dominant) g.79990661A>T g.82032785A>T - - RAC3_000003 - PubMed: Gostain 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? CMC05 PubMed: Gostain 2020 - M - Canada - - - - - 1 Johan den Dunnen
+?/. - c.182A>T r.(?) p.(Gln61Leu) Unknown - likely pathogenic (dominant) g.79990661A>T g.82032785A>T - - RAC3_000003 - PubMed: Costain 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD FamIPat1 PubMed: Costain 2019 2-generation family, 1 affected, unaffected non-carrier parents M - Canada Europe;white - - - - 1 Johan den Dunnen
+?/. - c.184G>A r.(?) p.(Glu62Lys) Unknown - likely pathogenic (dominant) g.79990663G>A g.82032787G>A - - RAC3_000009 - PubMed: Costain 2019 SCV000575128.1 - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD FamIIIPat1 PubMed: Costain 2019 2-generation family, 1 affected, unaffected non-carrier parents M - Germany Europe;white - - - - 1 Johan den Dunnen
+?/. - c.184G>A r.(?) p.(Glu62Lys) Unknown - likely pathogenic (dominant) g.79990663G>A g.82032787G>A - - RAC3_000009 suspected maternal gonadal mosaicism PubMed: Costain 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD FamIVPat1 PubMed: Costain 2019 2-generation family, 2 affected, unaffected non-carrier parents (suspected maternal gonadal mosaicism) M - Australia Europe;white - - - - 1 Johan den Dunnen
+?/. - c.184G>A r.(?) p.(Glu62Lys) Unknown - likely pathogenic (dominant) g.79990663G>A g.82032787G>A - - RAC3_000009 suspected maternal gonadal mosaicism PubMed: Costain 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD FamIVPat2 PubMed: Costain 2019 half-sister F - Australia Europe;white - - - - 1 Johan den Dunnen
+?/. - c.184G>A r.(?) p.(Glu62Lys) Unknown - likely pathogenic (dominant) g.79990663G>A g.82032787G>A - - RAC3_000009 - PubMed: Scala 2022 - - De novo - - - - - DNA arrayCGH, SEQ, SEQ-NG - gene panel NDD Pat7 PubMed: Scala 2022 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.186_188del r.(?) p.(Glu62del) Unknown - likely pathogenic (dominant) g.79990665_79990667del g.82032789_82032791del 186_188delGGA - RAC3_000010 - PubMed: Scala 2022 - - De novo - - - - - DNA arrayCGH, SEQ, SEQ-NG - trio WES NDD Pat2 PubMed: Scala 2022 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.187G>A r.(?) p.(Asp63Asn) Unknown - likely pathogenic (dominant) g.79990666G>A g.82032790G>A - - RAC3_000011 - PubMed: Scala 2022 - - De novo - - - - - DNA arrayCGH, SEQ, SEQ-NG - trio WES NDD Pat1 PubMed: Scala 2022 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.187G>A r.(?) p.(Asp63Asn) Unknown - likely pathogenic (dominant) g.79990666G>A g.82032790G>A - - RAC3_000011 - PubMed: Scala 2022 - - De novo - - - - - DNA arrayCGH, SEQ, SEQ-NG - WES NDD Pat9 PubMed: Scala 2022 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.191A>G r.(?) p.(Tyr64Cys) Unknown - likely pathogenic (dominant) g.79990670A>G g.82032794A>G - - RAC3_000012 - PubMed: Scala 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat3 PubMed: Scala 2022 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
?/. - c.283G>A r.(?) p.(Ala95Thr) Unknown - VUS g.79990880G>A - RAC3(NM_005052.2):c.283G>A (p.(Ala95Thr)) - DCXR_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.348G>C r.(?) p.(Lys116Asn) Unknown - likely pathogenic (dominant) g.79991375G>C g.82033499G>C - - RAC3_000013 - PubMed: Scala 2022 - - De novo - - - - - DNA arrayCGH, SEQ, SEQ-NG - trio WES NDD Pat8 PubMed: Scala 2022 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
?/. - c.364_366del r.(?) p.(Asp122del) Unknown - VUS g.79991391_79991393del - RAC3(NM_005052.2):c.364_366del (p.(Asp122del)) - DCXR_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2944G>A r.(=) p.(=) Unknown - likely benign g.79994649G>A - DCXR(NM_016286.4):c.306-10C>T - DCXR_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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