Genomic variant #0000543049

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.134014164G>A
DNA change (hg38) g.134144269G>A
Published as JAM3(NM_032801.4):c.285G>A (p.L95=)
ISCN -
DB-ID JAM3_000013
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) 0.00031 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.257-523G>A r.(=) -
JAM3 NM_032801.4 -/. - c.285G>A r.(?) p.(Leu95=)