Variant #0000818142 (NC_000015.9:g.89861596_89870890del, NC_000015.9(NM_002693.2):c.1251-310_3482+176del (POLG))
Individual ID |
00384650 |
Chromosome |
15 |
Allele |
Unknown |
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.89861596_89870890del |
DNA change (hg38) |
g.89318365_89327659del |
Published as |
hg38 89,861,596-89,870,890del |
ISCN |
- |
DB-ID |
POLG_000229 |
Variant remarks |
9223-bp deletion exon 7-21 |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
De novo |
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 |
2021-11-01 16:51:17 +01:00 (CET) |
Date last edited |
2021-11-01 16:57:33 +01:00 (CET) |

Variant on transcripts
Screenings
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