Variant #0000497479 (NC_000020.10:g.43042407T>C, NM_175914.4:c.393T>C (HNF4A))
Individual ID |
00244294 |
Chromosome |
20 |
Allele |
Unknown |
Affects function (as reported) |
Does not affect function |
Affects function (by curator) |
Does not affect function |
Classification method |
- |
Clinical classification |
benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.43042407T>C |
DNA change (hg38) |
g.44413767T>C |
Published as |
- |
ISCN |
- |
DB-ID |
HNF4A_000146 See all 8 reported entries |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00331 View details |
Owner |
Kevin Colclough |
Database submission license |
No license selected |
Created by |
Kevin Colclough |
Date created |
2012-09-05 14:54:02 +02:00 (CEST) |
Date last edited |
2019-06-21 19:57:15 +02:00 (CEST) |

Variant on transcripts
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