Variant #0000626543 (NC_000005.9:g.10356459_10356523ATTTT[16], NC_000005.9(NM_005885.3):c.19+2430_19+2494ATTTT[16] (MARCH6))
Individual ID |
00271459 |
Chromosome |
5 |
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.10356459_10356523ATTTT[16] |
DNA change (hg38) |
g.10356347_10356411ATTTT[16] |
Published as |
- |
ISCN |
- |
DB-ID |
MARCH6_000012 |
Variant remarks |
- |
Reference |
PubMed: Florion 2019 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
5/164 chromosomes |
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 |
2019-12-19 15:38:10 +01:00 (CET) |
Date last edited |
2019-12-19 16:05:27 +01:00 (CET) |

Variant on transcripts
Screenings
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|