Variant #0000686226 (NC_000011.9:g.45937014C>T, PEX16(NM_057174.2):c.460+5G>A)
Individual ID |
00309905 |
Chromosome |
11 |
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.45937014C>T |
DNA change (hg38) |
- |
Published as |
- |
ISCN |
- |
DB-ID |
PEX16_000003 |
Variant remarks |
- |
Reference |
PubMed: Shaheen 2010 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Nancy Braverman |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2010-08-16 15:08:43 +02:00 (CEST) |
Date last edited |
2020-09-06 10:41:11 +02:00 (CEST) |

Variant on transcripts
Screenings
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