Genomic variant #0000301332

Chromosome 10
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.119799643G>C
DNA change (hg38) -
Published as RAB11FIP2(NM_014904.2):c.787C>G (p.P263A)
ISCN -
DB-ID RAB11FIP2_000003
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00015 View details
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
RAB11FIP2 NM_014904.2 ?/. - c.787C>G VUS r.(?) p.(Pro263Ala)