Variant #0000647464 (NC_000001.10:g.179886769G>A, TOR1AIP1(NM_001267578.1):c.1150G>A)
Individual ID |
00289607 |
Chromosome |
1 |
Allele |
Parent #1 |
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.179886769G>A |
DNA change (hg38) |
g.179917634G>A |
Published as |
- |
ISCN |
- |
DB-ID |
TOR1AIP1_000022 See all 2 reported entries |
Variant remarks |
5 heterozygous, no homozygous; Clinindb (India) |
Reference |
PubMed: Narang 2020, Journal: Narang 2020 |
ClinVar ID |
- |
dbSNP ID |
rs149690630 |
Origin |
Germline |
Segregation |
- |
Frequency |
5/2795 individuals |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (large NGS studies) |
0.00165 View details |
Owner |
Mohammed Faruq |

Variant on transcripts
Screenings
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