Genomic variant #0000023435

Individual ID 00004538
Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.161179002G>A
DNA change (hg38) g.161209212G>A
Published as -
ISCN -
DB-ID NDUFS2_000003
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Robert McFarland




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
NDUFS2 NM_004550.4 +?/? 5 c.413G>A - r.(?) p.(Arg138Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000004452 DNA DSCA Blood - NDUFS2 2 Robert McFarland