Variant #0000647524 (NC_000001.10:g.205035727A>G, CNTN2(NM_005076.3):c.1975A>G)

Individual ID 00289667
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.205035727A>G
DNA change (hg38) g.205066599A>G
Published as -
ISCN -
DB-ID CNTN2_000004 See all 2 reported entries
Variant remarks 11 heterozygous, no homozygous; Clinindb (India)
Reference Faruq 2020, submtted
ClinVar ID -
dbSNP ID rs41264871
Origin Germline
Segregation -
Frequency 11/2792 individuals
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.0063 View details
Owner Mohammed Faruq
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

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



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000290835 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq