Genomic variant #0000321092

Chromosome 1
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.161180187G>A
DNA change (hg38) -
Published as NDUFS2(NM_001166159.1):c.866+8G>A (p.(=))
ISCN -
DB-ID NDUFS2_000005
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) 0.00215 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.-4925G>A likely benign r.(?) p.(=)
NDUFS2 NM_004550.4 -?/. - c.866+8G>A likely benign r.(=) p.(=)
ADAMTS4 NM_005099.4 -?/. - c.-11770C>T likely benign r.(?) p.(=)