Genomic variant #0000253637

Chromosome X
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.150906999A>C
DNA change (hg38) -
Published as CNGA2(NM_005140.1):c.44A>C (p.(Asn15Thr))
ISCN -
DB-ID CNGA2_000014 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00852 View details
Owner VKGL-NL_Rotterdam




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CNGA2 NM_005140.1 -/. - c.44A>C benign r.(?) p.(Asn15Thr)