Genomic variant #0000309379

Chromosome 1
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.179852074T>C
DNA change (hg38) g.179882939T>C
Published as TOR1AIP1(NM_001267578.1):c.437T>C (p.M146T)
ISCN -
DB-ID TOR1AIP1_000006
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) 0.56921 View details
Owner VKGL-NL_AMC
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TOR1AIP1 NM_001267578.1 -/. - c.437T>C r.(?) p.(Met146Thr)
TOR1AIP2 NM_145034.4 -/. - c.-5528A>G r.(?) p.(=)