Variant #0000309382 (NC_000001.10:g.179851707C>G, TOR1AIP1(NM_001267578.1):c.70C>G)
Chromosome |
1 |
Allele |
Unknown |
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.179851707C>G |
DNA change (hg38) |
g.179882572C>G |
Published as |
TOR1AIP1(NM_001267578.1):c.70C>G (p.P24A) |
ISCN |
- |
DB-ID |
TOR1AIP1_000005 See all 2 reported entries |
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) |
0.00221 View details |
Owner |
VKGL-NL_AMC |

Variant on transcripts
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