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)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MICU1 NM_001195518.2 +/. 4 c.386G>C r.(?) p.(Arg129Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000054634 DNA SEQ;SEQ-NG - - MICU1 2 Sandra Cooper


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