Variant #0000084584 (NC_000010.10:g.74311044C>G, NM_001195518.2:c.386G>C (MICU1))
Individual ID |
00054685 |
Chromosome |
10 |
Allele |
Parent #1 |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.74311044C>G |
DNA change (hg38) |
g.72551286C>G |
Published as |
- |
ISCN |
- |
DB-ID |
MICU1_000013 See all 4 reported entries |
Variant remarks |
- |
Reference |
PubMed: O'Grady 2016 |
ClinVar ID |
- |
dbSNP ID |
rs375664373 |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
9.0E-5 View details |
Owner |
Sandra Cooper |
Database submission license |
No license selected |
Created by |
Sandra Cooper |
Date created |
2015-11-08 12:06:11 +01:00 (CET) |
Date last edited |
2025-09-08 12:53:11 +02:00 (CEST) |

Variant on transcripts
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