Variant #0000811464 (NC_000011.9:g.6638385C>G, NC_000011.9(NM_000391.3):c.509-1G>C (TPP1))
Individual ID |
00383474 |
Chromosome |
11 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.6638385C>G |
DNA change (hg38) |
g.6617154C>G |
Published as |
c.509-1G>C, p.Phe169* / Val170Glyfs*29 |
ISCN |
- |
DB-ID |
TPP1_000022 See all 210 reported entries |
Variant remarks |
heterozygous |
Reference |
PubMed: Dozieres-Puyravel 2020 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
? |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00041 View details |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Anna Tracewska |
Date created |
2021-09-29 11:58:04 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
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