Genomic variant #0000605007

Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.179851781_179851783del
DNA change (hg38) -
Published as -
ISCN -
DB-ID TOR1AIP2_000002
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_Nijmegen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
TOR1AIP1 NM_001267578.1 ?/. - c.144_146del VUS r.(?) p.(Pro49del)
TOR1AIP2 NM_145034.4 ?/. - c.-5233_-5231del VUS r.(?) p.(=)