Variant #0000321456 (NC_000010.10:g.24813319A>G, KIAA1217(NM_019590.3):c.2524A>G)

Chromosome 10
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.24813319A>G
DNA change (hg38) g.24524390A>G
Published as KIAA1217(NM_001098500.1):c.2284A>G (p.(Lys762Glu))
ISCN -
DB-ID KIAA1217_000002
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_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KIAA1217 NM_019590.3 ?/. - c.2524A>G r.(?) p.(Lys842Glu)