Genomic variant #0000524822

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.149433752A>G
DNA change (hg38) g.150054189A>G
Published as CSF1R(NM_005211.3):c.2799T>C (p.G933=)
ISCN -
DB-ID CSF1R_000004 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) 0.00246 View details
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CSF1R NM_005211.3 -?/. - c.2799T>C r.(?) p.(Gly933=)
HMGXB3 NM_014983.2 -?/. - c.*1997A>G r.(=) p.(=)
TIGD6 NM_030953.3 -?/. - c.-53797T>C r.(?) p.(=)