Full data view for gene RAB11FIP2

Information The variants shown are described using the NM_014904.2 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.-10A>G VUS r.(=) p.(=) Unknown g.119805684T>C - RAB11FIP2:c.-10A>G - RAB11FIP2_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.787C>G VUS r.(?) p.(Pro263Ala) Unknown g.119799643G>C - RAB11FIP2:c.787C>G (P263A) - RAB11FIP2_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1289A>T VUS r.(?) p.(Asn430Ile) Unknown g.119774598T>A - RAB11FIP2:c.1289A>T (N430I) - RAB11FIP2_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1497G>A VUS r.(=) p.(=) Unknown g.119768551C>T - RAB11FIP2:c.1497G>A (=) - RAB11FIP2_000001 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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