Variant #0000525415 (NC_000005.9:g.179252184A>G, NM_003900.4:c.712A>G (SQSTM1))
Chromosome |
5 |
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.179252184A>G |
DNA change (hg38) |
g.179825184A>G |
Published as |
SQSTM1(NM_001142298.1):c.460A>G (p.(Lys154Glu)), SQSTM1(NM_003900.5):c.712A>G (p.K238E) |
ISCN |
- |
DB-ID |
SQSTM1_000017 See all 4 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) |
0.00279 View details |
Owner |
VKGL-NL_VUmc |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_VUmc |
Date created |
2019-07-18 18:22:55 +02:00 (CEST) |
Date last edited |
2024-08-28 13:16:32 +02:00 (CEST) |

Variant on transcripts
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