Variant #0000273595 (NC_000016.9:g.1507755C>T, CLCN7(NM_001287.5):c.678G>A)

Chromosome 16
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.1507755C>T
DNA change (hg38) g.1457754C>T
Published as CLCN7(NM_001287.5):c.678G>A (p.T226=)
ISCN -
DB-ID CLCN7_000005
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) 0.00014 View details
Owner VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CLCN7 NM_001287.5 -?/. - c.678G>A r.(?) p.(Thr226=)