Variant #0000872294 (NC_000007.13:g.30054400T>C, NM_017946.3:c.587A>G (FKBP14))
Individual ID |
00413322 |
Chromosome |
7 |
Allele |
Both (homozygous) |
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.30054400T>C |
DNA change (hg38) |
- |
Published as |
- |
ISCN |
- |
DB-ID |
FKBP14_000016 |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
1.0E-5 View details |
Owner |
Marlies Colman |
Database submission license |
Creative Commons Attribution-NoDerivatives 4.0 International |
Created by |
Marlies Colman |
Date created |
2022-07-15 11:24:12 +02:00 (CEST) |
Date last edited |
2022-07-17 10:57:25 +02:00 (CEST) |

Variant on transcripts
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