Genomic variant #0000268602

Chromosome 5
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.149456995C>A
DNA change (hg38) -
Published as CSF1R(NM_005211.3):c.733G>T (p.A245S)
ISCN -
DB-ID CSF1R_000026
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) 0.03106 View details
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CSF1R NM_005211.3 -?/. - c.733G>T likely benign r.(?) p.(Ala245Ser)