Variant #0000880613 (NC_000007.13:g.72745699_72745720dup, NM_003602.4:c.508_529dup (FKBP6))
Individual ID |
00418995 |
Chromosome |
7 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic (recessive) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.72745699_72745720dup |
DNA change (hg38) |
g.73331696_73331717dup |
Published as |
- |
ISCN |
- |
DB-ID |
FKBP6_000004 See all 3 reported entries |
Variant remarks |
- |
Reference |
PubMed: Wyrwoll 2022 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2022-10-14 12:15:29 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
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