Genomic variant #0000543047

Chromosome 11
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.133939059G>T
DNA change (hg38) g.134069164G>T
Published as JAM3(NM_032801.4):c.76+5G>T
ISCN -
DB-ID JAM3_000011
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) 8.0E-5 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.76+5G>T r.spl? p.?
JAM3 NM_032801.4 ?/. - c.76+5G>T r.spl? p.?