Variant #0000597875 (NC_000001.10:g.179886803T>C, TOR1AIP1(NM_001267578.1):c.1184T>C)

Individual ID 00265906
Chromosome 1
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.179886803T>C
DNA change (hg38) g.179917668T>C
Published as -
ISCN -
DB-ID TOR1AIP1_000018
Variant remarks RNA allele imbalance
Reference PubMed: Cummings 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 1.0E-5 View details
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TOR1AIP1 NM_001267578.1 +/. - c.1184T>C r.(?) p.(Leu395Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000267026 DNA RT-PCR;SEQ;SEQ-NG - WES TOR1AIP1 2 Johan den Dunnen