Variant #0000369426 (NC_000001.10:g.110171359C>T, NM_001257360.1:c.1664C>T (AMPD2))
Individual ID |
00164824 |
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.110171359C>T |
DNA change (hg38) |
g.109628737C>T |
Published as |
- |
ISCN |
- |
DB-ID |
AMPD2_000023 |
Variant remarks |
compound heterozygous with c.1112+1G>A |
Reference |
PubMed: Severino 2017 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Ashley Marsh |
Database submission license |
No license selected |
Created by |
Ashley Marsh |
Date created |
2018-06-17 23:58:27 +02:00 (CEST) |
Date last edited |
2018-06-20 15:07:04 +02:00 (CEST) |

Variant on transcripts
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