Variant #0000524834 (NC_000005.9:g.149439282C>T, CSF1R(NM_005211.3):c.2113G>A)

Chromosome 5
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.149439282C>T
DNA change (hg38) g.150059719C>T
Published as CSF1R(NM_005211.3):c.2113G>A (p.E705K)
ISCN -
DB-ID CSF1R_000039
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CSF1R NM_005211.3 ?/. - c.2113G>A r.(?) p.(Glu705Lys)