Variant #0000504355 (NC_000001.10:g.179877011G>A, TOR1AIP1(NM_001267578.1):c.841+12G>A)

Chromosome 1
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.179877011G>A
DNA change (hg38) g.179907876G>A
Published as TOR1AIP1(NM_001267578.1):c.841+12G>A
ISCN -
DB-ID TOR1AIP1_000016
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_AMC
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TOR1AIP1 NM_001267578.1 -?/. - c.841+12G>A r.(=) p.(=)