Genomic variant #0000543051

Chromosome 11
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.134014673_134014674insCT
DNA change (hg38) g.134144778_134144779insCT
Published as JAM3(NM_032801.4):c.410-14_410-13insCT
ISCN -
DB-ID JAM3_000014 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 -
Methylation -
Average frequency (large NGS studies) 0.3165 View details
Owner VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
JAM3 NM_001205329.1 -?/. - c.257-14_257-13insCT r.(=) p.(=)
JAM3 NM_032801.4 -?/. - c.410-14_410-13insCT r.(=) p.(=)