Variant #0000653859 (NC_000001.10:g.205027083C>T, CNTN2(NM_005076.3):c.105C>T)

Chromosome 1
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.205027083C>T
DNA change (hg38) g.205057955C>T
Published as CNTN2(NM_005076.4):c.105C>T (p.F35=)
ISCN -
DB-ID CNTN2_000008
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) 0.00231 View details
Owner VKGL-NL_AMC
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CNTN2 NM_005076.3 -?/. - c.105C>T r.(?) p.(Phe35=)