Genomic variant #0000245471

Chromosome 1
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.179877780A>C
DNA change (hg38) -
Published as TOR1AIP1(NM_001267578.1):c.882A>C (p.Q294H)
ISCN -
DB-ID TOR1AIP1_000011
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) 0.04821 View details
Owner VKGL-NL_AMC
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
TOR1AIP1 NM_001267578.1 -/. - c.882A>C benign r.(?) p.(Gln294His)