Genomic variant #0000285403

Chromosome 6
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.33639854C>G
DNA change (hg38) g.33672077C>G
Published as ITPR3(NM_002224.3):c.2777C>G (p.T926S)
ISCN -
DB-ID ITPR3_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_Utrecht
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ITPR3 NM_002224.3 ?/. - c.2777C>G r.(?) p.(Thr926Ser)