Genomic variant #0000504939

Chromosome 1
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.205035727A>G
DNA change (hg38) -
Published as CNTN2(NM_005076.3):c.1975A>G (p.(Asn659Asp))
ISCN -
DB-ID CNTN2_000004
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) 0.0063 View details
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CNTN2 NM_005076.3 -?/. - c.1975A>G likely benign r.(?) p.(Asn659Asp)