Genomic variant #0000574157

Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.150911721G>A
DNA change (hg38) -
Published as CNGA2(NM_005140.1):c.746G>A (p.(Arg249His))
ISCN -
DB-ID CNGA2_000033
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) Variant not found in online data sets
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CNGA2 NM_005140.1 ?/. - c.746G>A VUS r.(?) p.(Arg249His)