Variant #0000936228 (NC_000007.13:g.73452048G>A, NM_000501.2:c.175G>A (ELN))
Individual ID |
00438588 |
Chromosome |
7 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.73452048G>A |
DNA change (hg38) |
- |
Published as |
NM_001278939:c.G175A (G59R) |
ISCN |
- |
DB-ID |
ELN_000186 |
Variant remarks |
- |
Reference |
PubMed: Hamdan 2017 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
De novo |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0 View details |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2023-10-21 19:20:17 +02:00 (CEST) |
Date last edited |
2023-10-21 20:01:49 +02:00 (CEST) |

Variant on transcripts
Screenings
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