Variant #0000290197 (NC_000010.10:g.24831837G>C, KIAA1217(NM_019590.3):c.3638G>C)

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.24831837G>C
DNA change (hg38) g.24542908G>C
Published as KIAA1217(NM_019590.5):c.3638G>C (p.S1213T)
ISCN -
DB-ID KIAA1217_000003
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.3638G>C r.(?) p.(Ser1213Thr)