Variant #0000264662 (NC_000016.9:g.1506174G>A, CLCN7(NM_001287.5):c.856C>T)

Chromosome 16
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.1506174G>A
DNA change (hg38) g.1456173G>A
Published as CLCN7(NM_001287.5):c.856C>T (p.R286W)
ISCN -
DB-ID CLCN7_000004
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_AMC
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CLCN7 NM_001287.5 +?/. - c.856C>T r.(?) p.(Arg286Trp)