Variant #0000166313 (NC_000011.9:g.6638385C>G, NC_000011.9(NM_000391.3):c.509-1G>C (TPP1))
Individual ID |
00102751 |
Chromosome |
11 |
Allele |
Parent #2 |
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.6638385C>G |
DNA change (hg38) |
g.6617154C>G |
Published as |
- |
ISCN |
- |
DB-ID |
TPP1_000022 See all 210 reported entries |
Variant remarks |
- |
Reference |
PubMed: Sun 2013 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00041 View details |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2013-01-29 13:14:48 +01:00 (CET) |
Date last edited |
2017-04-04 09:30:35 +02:00 (CEST) |

Variant on transcripts
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