Genomic variant #0000322603

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.134018553A>G
DNA change (hg38) g.134148658A>G
Published as JAM3(NM_001205329.1):c.671A>G (p.(Asn224Ser))
ISCN -
DB-ID JAM3_000008
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) Variant not found in online data sets
Owner VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
JAM3 NM_001205329.1 ?/. - c.671A>G r.(?) p.(Asn224Ser)
NCAPD3 NM_015261.2 ?/. - c.*4286T>C r.(=) p.(=)
JAM3 NM_032801.4 ?/. - c.824A>G r.(?) p.(Asn275Ser)