Variant #0000001002 (NC_000004.11:g.178359924C>T, AGA(NM_000027.3):c.482G>A)
Individual ID |
00000024 |
Chromosome |
4 |
Allele |
Both (homozygous) |
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.178359924C>T |
DNA change (hg38) |
g.177438770C>T |
Published as |
- |
ISCN |
- |
DB-ID |
AGA_000001 See all 3 reported entries |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (large NGS studies) |
0.00087 View details |
Owner |
Gerard C.P. Schaafsma |

Variant on transcripts
Screenings
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