Variant #0000116944 (NC_000023.10:g.119005968G>C, NDUFA1(NM_004541.3):c.94G>C)

Individual ID 00073149
Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.119005968G>C
DNA change (hg38) g.119872005G>C
Published as -
ISCN -
DB-ID NDUFA1_000003 See all 9 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs1801316
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00568 View details
Owner Claire Guissart
Database submission license No license selected
Created by Claire Guissart
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NDUFA1 NM_004541.3 -?/. 1 c.94G>C r.(?) p.(Gly32Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000073309 DNA SEQ;SEQ-NG-I - - HEXA, NDUFA1 2 Claire Guissart