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 |

Variant on transcripts
Screenings
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