Genomic variant #0000524831

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.149436930C>T
DNA change (hg38) g.150057367C>T
Published as CSF1R(NM_005211.3):c.2239G>A (p.G747R)
ISCN -
DB-ID HMGXB3_000008 See all 2 reported entries
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) 0.00223 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.2239G>A r.(?) p.(Gly747Arg)
HMGXB3 NM_014983.2 -?/. - c.*5175C>T r.(=) p.(=)
TIGD6 NM_030953.3 -?/. - c.-56975G>A r.(?) p.(=)