Genomic variant #0000289930

Chromosome 11
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.134018656T>C
DNA change (hg38) g.134148761T>C
Published as JAM3(NM_032801.4):c.843-3T>C
ISCN -
DB-ID JAM3_000009 See all 2 reported entries
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) 0.45899 View details
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
JAM3 NM_001205329.1 -/. - c.690-3T>C r.spl? p.?
NCAPD3 NM_015261.2 -/. - c.*4183A>G r.(=) -
JAM3 NM_032801.4 -/. - c.843-3T>C r.spl? p.?