Genomic variant #0000330668

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.149435881C>T
DNA change (hg38) -
Published as CSF1R(NM_005211.3):c.2343G>A (p.(=))
ISCN -
DB-ID CSF1R_000010
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.2343G>A likely benign r.(?) p.(=)
HMGXB3 NM_014983.2 -?/. - c.*4126C>T likely benign r.(=) p.(=)
TIGD6 NM_030953.3 -?/. - c.-55926G>A likely benign r.(?) p.(=)