Unique variants in the RAB9B gene

Information The variants shown are described using the NM_016370.2 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/. 2 _1_3_ c.0 r.0 p.0 - pathogenic (recessive) g.(103000000_103031923)_(103080715_103140000)del - - - PLP1_000046 115 kb deletion incl. PLP1 and RAB9B; break point sequenced, not shown, 1 more item PubMed: Hübner 2005 - - Germline yes - - - - Johan den Dunnen
-?/. 1 3 c.327G>A r.(=) p.(Ala107=) - likely benign g.103080388C>T g.103825458C>T NM_016370:c.327G>A - RAB9B_000001 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.336G>A r.(?) p.(Lys112=) - likely benign g.103080379C>T - RAB9B(NM_016370.3):c.336G>A (p.K112=) - RAB9B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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