Variant #0000647896 (NC_000010.10:g.43597793G>A, NM_020975.4:c.341G>A (RET))
Individual ID |
00290039 |
Chromosome |
10 |
Allele |
Parent #1 |
Affects function (as reported) |
Does not affect function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.43597793G>A |
DNA change (hg38) |
g.43102345G>A |
Published as |
- |
ISCN |
- |
DB-ID |
RET_000283 |
Variant remarks |
6 heterozygous, no homozygous; Clinindb (India) |
Reference |
PubMed: Narang 2020, Journal: Narang 2020 |
ClinVar ID |
- |
dbSNP ID |
rs76397662 |
Origin |
Germline |
Segregation |
- |
Frequency |
6/2795 individuals |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00077 View details |
Owner |
Mohammed Faruq |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2020-03-11 19:46:11 +01:00 (CET) |
Date last edited |
2024-07-09 19:54:46 +02:00 (CEST) |

Variant on transcripts
Screenings
|