Genomic variant #0000289929

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.134015829T>A
DNA change (hg38) g.134145934T>A
Published as JAM3(NM_032801.4):c.613-12T>A
ISCN -
DB-ID JAM3_000007
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) 0.00131 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.460-12T>A r.(=) p.(=)
JAM3 NM_032801.4 -?/. - c.613-12T>A r.(=) p.(=)