Variant #0000647523 (NC_000001.10:g.205035721C>T, CNTN2(NM_005076.3):c.1969C>T)

Individual ID 00289666
Chromosome 1
Allele Parent #1
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.205035721C>T
DNA change (hg38) g.205066593C>T
Published as -
ISCN -
DB-ID CNTN2_000007
Variant remarks 5 heterozygous, no homozygous; Clinindb (India)
Reference Faruq 2020, submtted
ClinVar ID -
dbSNP ID rs2305276
Origin Germline
Segregation -
Frequency 5/2795 individuals
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Mohammed Faruq
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CNTN2 NM_005076.3 -/. - c.1969C>T r.(?) p.(Arg657Trp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000290834 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq