Full data view for gene RBM8A

Information The variants shown are described using the NM_005105.3 transcript reference sequence.

78 entries on 1 page. Showing entries 1 - 78.
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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.-21G>A r.(?) p.(=) Unknown - likely pathogenic g.145507646G>A - RBM8A(NM_005105.4):c.-21G>A, RBM8A(NM_005105.5):c.-21G>A - RBM8A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-21G>A r.(?) p.(=) Unknown - pathogenic g.145507646G>A - RBM8A(NM_005105.4):c.-21G>A, RBM8A(NM_005105.5):c.-21G>A - RBM8A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.-21G>A r.- p.- Parent #2 - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity; normal 2nd chromosome PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control 12 (mother of 10) - 2-generation family, mother patient F no - - - - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Maternal (confirmed) - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 13 - 2-generation family, 1 affected F no - - >5y - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Both (homozygous) - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control 14 (father of 13) - 2-generation family, father patient M no - - - - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Maternal (confirmed) - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 16 - 2-generation family, 1 affected F no - - >15y - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Parent #1 - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control 18 (mother of 16) - 2-generation family, mother patient F no - - - - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Parent #2 - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 19 - patient ? no - - >23y - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Parent #2 - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 20 - patient ? no - - >23y - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Parent #2 - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 21 - patient ? no - - >26y - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Parent #2 - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 22 - patient ? no - - >27y - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Parent #2 - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity PubMed: Albers 2012 - - De novo - - - - - DNA PCR, SEQ - - TAR 23 - 2-generation family, 1 affected ? no - - - - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Parent #2 - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity; normal 2nd chromosome PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control 25 (parent of 23) - 2-generation family, parent patient ? no - - - - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Parent #2 - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 33 - 2-generation family, 1 affected ? no - - >29y - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Parent #2 - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity; normal 2nd chromosome PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control 32 (parent of 33) - 2-generation family, parent patient ? no - - - - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Parent #2 - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 40 - 2-generation family, 2 affecteds ? no - - - - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Parent #2 - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 41 - 2-generation family, 2 affecteds ? no - - - - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Parent #2 - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity; normal 2nd chromosome PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control 39 (parent 2 of 40 and 41) - 2-generation family, parent 2 patients ? no - - - - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Paternal (confirmed) - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 47 - 2-generation family, 1 affected M no - - >4m - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Parent #2 - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity; normal 2nd chromosome PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control 49 (father of 47) - 2-generation family, father patient M no - - - - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Paternal (confirmed) - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 50 - 2-generation family, 1 affected M no - - >26y - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Parent #2 - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity; normal 2nd chromosome PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control 52 (father of 50) - 2-generation family, father patient M no - - - - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Maternal (confirmed) - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 53 - 2-generation family, 1 affected F no - - >1y - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Parent #2 - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity; normal 2nd chromosome PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control 54 (mother of 53) - 2-generation family, mother patient F no - - - - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Paternal (confirmed) - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity PubMed: Albers 2012 - - De novo - - - - - DNA PCR, SEQ - - TAR 56 - 2-generation family, 1 affected F no - - >34y - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Parent #2 - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity; normal 2nd chromosome PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control 58 (father of 56) - 2-generation family, father patient M no - - - - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Paternal (confirmed) - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity PubMed: Albers 2012 - - De novo - - - - - DNA PCR, SEQ - - TAR 59 - 2-generation family, 1 affected M no - - >26y - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Parent #2 - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity; normal 2nd chromosome PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control 61 (father of 59) - 2-generation family, father patient M no - - - - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Paternal (confirmed) - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 65 - 2-generation family, 1 affected F no - - >34y - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Parent #2 - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity; normal 2nd chromosome PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control 67 (father of 65) - 2-generation family, father patient M no - - - - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Paternal (inferred) - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity PubMed: Albers 2012 - - De novo - - - - - DNA PCR, SEQ - - TAR 83 - 2-generation family, 1 affected F no - - >37y - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Parent #2 - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 85 - 2-generation family, 1 affected F no - - >17d - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Parent #2 - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity; normal 2nd chromosome PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control 87 (father of 85) - 2-generation family, father patient M no - - - - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Parent #2 - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity; normal 2nd chromosome PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control 90 (mother of 85) - 2-generation family, mother patient F no - - - - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Parent #2 - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 88 - patient F no - - >4y - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Paternal (confirmed) - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity PubMed: Albers 2012 - - De novo - - - - - DNA PCR, SEQ - - TAR 92 - 2-generation family, 1 affected M no - - >1y6m - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Parent #2 - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity; normal 2nd chromosome PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control 94 (father of 92) - 2-generation family, father patient M no - - - - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Paternal (confirmed) - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 95 - 2-generation family, 1 affected M no - - >6y - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Parent #2 - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity; normal 2nd chromosome PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control 97 (father of 95) - 2-generation family, father patient M no - - - - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Parent #2 - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 98 - patient F no - - >4y - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Paternal (inferred) - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 101 - 2-generation family, 1 affected F no - - >17y - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Parent #2 - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 113 - patient ? no - - - - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Paternal (confirmed) - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 116 - 2-generation family, 1 affected F no - - >8y - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Parent #2 - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity; normal 2nd chromosome PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control 117 (father of 116) - 2-generation family, father patient M no - - - - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Parent #2 - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 122 - patient M no - - - - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Parent #2 - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 124 - patient F no - - >22y - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Maternal (confirmed) - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 125 - 2-generation family, 1 affected ? no - - - - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Parent #2 - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity; normal 2nd chromosome PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control 127 (mother of 125 - 2-generation family, mother patient F no - - - - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Paternal (confirmed) - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 134 - 2-generation family, 1 affected ? no - - - - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Parent #2 - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity; normal 2nd chromosome PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control 133 (father of 132) - 2-generation family, father mother patient M no - - - - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Parent #2 - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity PubMed: Albers 2012 - - De novo - - - - - DNA PCR, SEQ - - TAR 136 - 2-generation family, 1 affected ? no - - - - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Parent #2 - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 139 - 2-generation family, 1 affected F no - - >17y - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Parent #2 - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity; normal 2nd chromosome PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control 138 (parent of 138) - 2-generation family, parent patient ? no - - - - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Maternal (confirmed) - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 142 - 2-generation family, 1 affected M no - - >16y - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Parent #2 - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity; normal 2nd chromosome PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control 143 (mother of 142) - 2-generation family, mother patient F no - - - - - - 1 LOVD
?/. 1 c.-21G>A r.(?) p.(=) Unknown - VUS g.145507646G>A - - - RBM8A_000002 - - - rs139428292 Germline - - - - - DNA SEQ - - Healthy/Control - - - - no - - - - - - 1 LOVD
+?/. 1 c.-21G>A r.(?) p.(=) Both (homozygous) - likely pathogenic (recessive) g.145507646G>A - chr1.hg19:g.145,507,646G>A - RBM8A_000002 - PubMed: Albers 2012 - - Germline - 7/7317 controls - - - DNA PCR, SEQ - - Healthy/Control - - - - no - - - - - - 7 LOVD
+?/. 1 c.-21G>A r.(?) p.(=) Parent #1 - likely pathogenic (recessive) g.145507646G>A - chr1.hg19:g.145,507,646G>A - RBM8A_000002 normal 2nd chromosome PubMed: Albers 2012 - - Germline - 431/7317 controls - - - DNA PCR, SEQ - - Healthy/Control - - - - no - - - - - - 431 LOVD
+?/. 1 c.-21G>A r.- p.- Paternal (confirmed) - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity PubMed: Albers 2012 - - De novo - - - - - DNA PCR, SEQ - - TAR 1 - 2-generation family, 1 affected M no - - >31y - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Parent #2 - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity; normal 2nd chromosome PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control 106 (mother of 1) father? - 2-generation family, father patient ? no - - - - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Paternal (confirmed) - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity PubMed: Albers 2012 - - De novo - - - - - DNA PCR, SEQ - - TAR 2 - 2-generation family, 1 affected F no - - >6m - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Parent #2 - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity; normal 2nd chromosome PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control 110 (father of 2) - 2-generation family, father patient M no - - - - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Maternal (confirmed) - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 4 - 2-generation family, 1 affected F no - - >14y - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Parent #2 - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity; normal 2nd chromosome PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control 107 (mother of 4) - 2-generation family, mother patient F no - - - - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Maternal (confirmed) - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 5 - 2-generation family, 1 affected F no - - >29y - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Parent #2 - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity; normal 2nd chromosome PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control 111 (mother of 5) - 2-generation family, mother patient F no - - - - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Maternal (confirmed) - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 6 - 2-generation family, 1 affected F no - - >28y6m - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Both (homozygous) - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control 81 (mother of 6) - 2-generation family, mother patient F no - - - - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Maternal (confirmed) - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 7 - 2-generation family, 1 affected F no - - >22y - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Parent #2 - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity; normal 2nd chromosome PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control 90 (mother of 7) - 2-generation family, mother patient F no - - - - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Parent #2 - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 8 - 2-generation family, 1 affected F no - - >2d - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Both (homozygous) - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control 99 (mother of 8) - 2-generation family, mother patient F no - - - - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Parent #2 - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity; normal 2nd chromosome PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control 100 (father of 8) - 2-generation family, father patient M no - - - - - - 1 LOVD
+?/. 1 c.-21G>A r.- p.- Maternal (confirmed) - likely pathogenic (recessive) g.145507646G>A - - - RBM8A_000002 reduced promoter activity PubMed: Albers 2012 - - Germline - - - - - DNA PCR, SEQ - - TAR 10 - 2-generation family, 1 affected M no - - >28y - - - 1 LOVD
+/. - c.-21G>A r.(=) p.(=) Parent #1 - pathogenic g.145507646G>A g.145927447G>A - - RBM8A_000002 34 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs139428292 Germline - 34/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 34 Mohammed Faruq
+/. - c.-21G>A r.(?) p.(=) Unknown - pathogenic g.145507646G>A - RBM8A(NM_005105.4):c.-21G>A, RBM8A(NM_005105.5):c.-21G>A - RBM8A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-21G>A r.(?) p.(=) Unknown - pathogenic g.145507646G>A - RBM8A(NM_005105.4):c.-21G>A, RBM8A(NM_005105.5):c.-21G>A - RBM8A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-21G>A r.(?) p.(=) Unknown - likely pathogenic g.145507646G>A - RBM8A(NM_005105.4):c.-21G>A, RBM8A(NM_005105.5):c.-21G>A - RBM8A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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