Genomic variant #0000266831

Chromosome 16
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.1503879T>A
DNA change (hg38) -
Published as CLCN7(NM_001287.5):c.1170A>T (p.A390=)
ISCN -
DB-ID CLCN7_000003 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) 0.50931 View details
Owner VKGL-NL_Groningen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CLCN7 NM_001287.5 -/. - c.1170A>T benign r.(?) p.(=)