Variant #0000348315 (NC_000016.9:g.1507331G>A, CLCN7(NM_001287.5):c.746C>T)

Chromosome 16
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.1507331G>A
DNA change (hg38) g.1457330G>A
Published as -
ISCN -
DB-ID CLCN7_000008
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) Variant not found in online data sets
Owner VKGL-NL_Nijmegen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CLCN7 NM_001287.5 ?/. - c.746C>T r.(?) p.(Pro249Leu)