Variant #0000653860 (NC_000001.10:g.205038648G>A, CNTN2(NM_005076.3):c.2155G>A)

Chromosome 1
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.205038648G>A
DNA change (hg38) g.205069520G>A
Published as CNTN2(NM_005076.4):c.2155G>A (p.G719R)
ISCN -
DB-ID CNTN2_000009
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) 0.00092 View details
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CNTN2 NM_005076.3 ?/. - c.2155G>A r.(?) p.(Gly719Arg)