Genomic variant #0000543053

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.134018712_134018714del
DNA change (hg38) g.134148817_134148819del
Published as JAM3(NM_032801.4):c.895_897delGAG (p.E299del)
ISCN -
DB-ID JAM3_000016
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_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
JAM3 NM_001205329.1 ?/. - c.743_744+1del r.spl? p.?
NCAPD3 NM_015261.2 ?/. - c.*4129_*4131del r.(=) -
JAM3 NM_032801.4 ?/. - c.896_897+1del r.spl? p.?