Genomic variant #0000296380

Chromosome 1
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.161183516C>T
DNA change (hg38) -
Published as NDUFS2(NM_001166159.1):c.1290C>T (p.A430=)
ISCN -
DB-ID NDUFS2_000006
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.10595 View details
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
FCER1G NM_004106.1 -/. - c.-1596C>T benign r.(?) p.(=)
NDUFS2 NM_004550.4 -/. - c.1290C>T benign r.(?) p.(=)
ADAMTS4 NM_005099.4 -/. - c.-15099G>A benign r.(?) p.(=)