Variant #0000556673 (NC_000016.9:g.1505814G>A, CLCN7(NM_001287.5):c.917-18C>T)

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.1505814G>A
DNA change (hg38) g.1455813G>A
Published as CLCN7(NM_001287.5):c.917-18C>T
ISCN -
DB-ID CLCN7_000018
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) 0.00173 View details
Owner VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CLCN7 NM_001287.5 -?/. - c.917-18C>T r.(=) p.(=)