Genomic variant #0000343773

Chromosome 5
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.149449481del
DNA change (hg38) -
Published as CSF1R(NM_005211.3):c.1466del (p.Asn489fs)
ISCN -
DB-ID CSF1R_000036
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.1466del VUS r.(?) p.(Asn489Thrfs*123)