Full data view for gene RAB39B

Information The variants shown are described using the NM_171998.2 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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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     
+/. _1_2_ c.-279_*2562[0] r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(?_154487526)_(154509358_154528097)del g.(?_155258241)_(155280069_155298784)del - - RAB39B_000010 - PubMed: Wilsoni 2014 - - Germline yes - - 0 - DNA arraySNP - - PARK FamAusPatII2 PubMed: Wilsoni 2014 PatII2 M - Australia - - 0 - - 1 Johan den Dunnen
+/. _1_2_ c.-279_*2562[0] r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(?_154487526)_(154509358_154528097)del g.(?_155258241)_(155280069_155298784)del - - RAB39B_000010 - PubMed: Wilsoni 2014 - - Germline yes - - 0 - DNA arraySNP - - PARK FamAusPatII1 PubMed: Wilsoni 2014 PatII1 M - Australia - - 0 - - 1 Johan den Dunnen
+/. _1_2_ c.-279_*2562[0] r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(?_154487526)_(154509358_154528097)del g.(?_155258241)_(155280069_155298784)del - - RAB39B_000010 - PubMed: Wilsoni 2014 - - Germline yes - - 0 - DNA arraySNP - - PARK FamAusPatII3 PubMed: Wilsoni 2014 2-generation family, 3 affected brothers, unaffected heterozygous carrier mother M - Australia - - 0 - - 3 Johan den Dunnen
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