Variant #0000438451 (NC_000020.10:g.44047991G>A, NM_015937.5:c.550G>A (PIGT))
Individual ID |
00207530 |
Chromosome |
20 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.44047991G>A |
DNA change (hg38) |
g.45419351G>A |
Published as |
- |
ISCN |
- |
DB-ID |
PIGT_000026 See all 2 reported entries |
Variant remarks |
This missense variant was predicted to be likely pathogenic (Proven, Intervar, Polyphen 2, Sift, Mutationtaster, M-CAP, REVEL). |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
rs774753616 |
Origin |
Germline |
Segregation |
- |
Frequency |
MAF: 0.00001626 |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
2.0E-5 View details |
Owner |
Philippe Campeau |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Philippe Campeau |
Date created |
2018-11-23 19:13:40 +01:00 (CET) |
Date last edited |
N/A |

Variant on transcripts
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