Full data view for gene RABEP1

Information The variants shown are described using the NM_004703.4 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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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.72T>A r.(?) p.(Ile24=) Unknown - likely benign g.5212026T>A g.5308731T>A RABEP1(NM_004703.6):c.72T>A (p.I24=) - RABEP1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.979_981del r.(?) p.(Gln327del) Unknown - VUS g.5257669_5257671del - RABEP1(NM_004703.6):c.979_981del (p.(Gln327del)) - NUP88_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1669-4A>G r.spl? p.? Unknown - likely benign g.5268413A>G - RABEP1(NM_004703.6):c.1669-4A>G - NUP88_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1867G>A r.(?) p.(Asp623Asn) Unknown - likely benign g.5271746G>A - RABEP1(NM_004703.6):c.1867G>A (p.D623N) - NUP88_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4608T>C r.(=) p.(=) Unknown - VUS g.5291126T>C - NUP88(NM_002532.6):c.1742A>G (p.D581G) - NUP88_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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