Genomic variant #0000341190

Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.53155810C>A
DNA change (hg38) -
Published as RFT1(NM_052859.3):c.463G>T (p.Ala155Ser)
ISCN -
DB-ID RFT1_000004
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) Variant not found in online data sets
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
RFT1 NM_052859.3 ?/. - c.463G>T VUS r.(?) p.(Ala155Ser)