Variant #0000174987 (NC_000007.13:g.65547430C>T, ASL(NM_000048.3):c.283C>T)
Individual ID |
00108495 |
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.65547430C>T |
DNA change (hg38) |
g.66082443C>T |
Published as |
- |
ISCN |
- |
DB-ID |
ASL_000007 See all 3 reported entries |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
rs28940585 |
Origin |
Germline |
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 |
2009-04-04 21:25:35 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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