Variant #0000268591 (NC_000005.9:g.149439258G>A, CSF1R(NM_005211.3):c.2132+5C>T)

Chromosome 5
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.149439258G>A
DNA change (hg38) g.150059695G>A
Published as CSF1R(NM_005211.3):c.2132+5C>T
ISCN -
DB-ID CSF1R_000014
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) 0.05613 View details
Owner VKGL-NL_VUmc
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CSF1R NM_005211.3 -?/. - c.2132+5C>T r.spl? p.?