Genomic variant #0000330669

Chromosome 5
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.149437071C>A
DNA change (hg38) -
Published as CSF1R(NM_005211.3):c.2217G>T (p.(Glu739Asp))
ISCN -
DB-ID CSF1R_000012
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.2217G>T VUS r.(?) p.(Glu739Asp)
HMGXB3 NM_014983.2 ?/. - c.*5316C>A VUS r.(=) p.(=)
TIGD6 NM_030953.3 ?/. - c.-57116G>T VUS r.(?) p.(=)