Genomic variant #0000503990

Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.161180504del
DNA change (hg38) -
Published as NDUFS2(NM_001166159.1):c.986+4delA
ISCN -
DB-ID ADAMTS4_000004
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) Variant not found in online data sets
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
FCER1G NM_004106.1 ?/. - c.-4608del VUS r.(?) p.(=)
NDUFS2 NM_004550.4 ?/. - c.986+4del VUS r.spl? p.?
ADAMTS4 NM_005099.4 ?/. - c.-12086del VUS r.(?) p.(=)