Variant #0000536955 (NC_000009.11:g.136221557A>G, NM_003172.3:c.280T>C (SURF1))
Chromosome |
9 |
Allele |
Unknown |
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.136221557A>G |
DNA change (hg38) |
g.133354702A>G |
Published as |
SURF1(NM_003172.4):c.280T>C (p.L94=) |
ISCN |
- |
DB-ID |
SURF1_000029 See all 2 reported entries |
Variant remarks |
VKGL data sharing initiative Nederland |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
CLASSIFICATION record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.03711 View details |
Owner |
VKGL-NL_Nijmegen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Nijmegen |
Date created |
2019-07-18 18:22:55 +02:00 (CEST) |
Date last edited |
2023-01-11 15:44:22 +01:00 (CET) |

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