Genomic variant #0000256505

Chromosome 5
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.149449467A>C
DNA change (hg38) -
Published as CSF1R(NM_005211.3):c.1479T>G (p.S493R)
ISCN -
DB-ID CSF1R_000037
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     
CSF1R NM_005211.3 ?/. - c.1479T>G VUS r.(?) p.(Ser493Arg)