Unique variants in gene RAB11FIP2

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

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
?/. 1 - c.-10A>G VUS r.(?) p.(=) g.119805684T>C - RAB11FIP2(NM_014904.2):c.-10A>G - RAB11FIP2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.787C>G VUS r.(?) p.(Pro263Ala) g.119799643G>C - RAB11FIP2(NM_014904.2):c.787C>G (p.P263A) - RAB11FIP2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1289A>T VUS r.(?) p.(Asn430Ile) g.119774598T>A - RAB11FIP2(NM_014904.2):c.1289A>T (p.N430I) - RAB11FIP2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1497G>A VUS r.(?) p.(=) g.119768551C>T - RAB11FIP2(NM_014904.2):c.1497G>A (p.P499=) - RAB11FIP2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*34A>G VUS r.(=) p.(=) g.119768475T>C - RAB11FIP2(NM_014904.2):c.*34A>G - chr10_004104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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