Variant #0000290196 (NC_000010.10:g.24813282G>A, KIAA1217(NM_019590.3):c.2487G>A)

Chromosome 10
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.24813282G>A
DNA change (hg38) g.24524353G>A
Published as KIAA1217(NM_019590.5):c.2487G>A (p.T829=)
ISCN -
DB-ID KIAA1217_000001
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_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KIAA1217 NM_019590.3 -?/. - c.2487G>A r.(?) p.(Thr829=)