Genomic variant #0000503991

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.161183265G>A
DNA change (hg38) -
Published as NDUFS2(NM_004550.4):c.1212G>A (p.(=))
ISCN -
DB-ID ADAMTS4_000005
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.00038 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.-1847G>A likely benign r.(?) p.(=)
NDUFS2 NM_004550.4 -?/. - c.1212G>A likely benign r.(?) p.(=)
ADAMTS4 NM_005099.4 -?/. - c.-14848C>T likely benign r.(?) p.(=)