Variant #0000822693 (NC_000001.10:g.111674130A>G, NM_178454.4:c.47T>C (DRAM2))
Individual ID |
00391160 |
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.111674130A>G |
DNA change (hg38) |
g.111131508A>G |
Published as |
DRAM2 c.47T>C c.284G>T, p.Val16Ala p.Gly95Val |
ISCN |
- |
DB-ID |
DRAM2_000005 See all 3 reported entries |
Variant remarks |
heterozygous |
Reference |
PubMed: Gliem 2020 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Unknown |
Segregation |
? |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0 View details |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Anna Tracewska |
Date created |
2021-11-13 11:00:19 +01:00 (CET) |
Date last edited |
2022-12-17 15:41:52 +01:00 (CET) |

Variant on transcripts
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