Variant #0000556656 (NC_000016.9:g.1492962C>T, CLCN7(NM_001287.5):c.*3670G>A)

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.1492962C>T
DNA change (hg38) g.1442961C>T
Published as CCDC154(NM_001143980.1):c.470G>A (p.(Arg157Gln))
ISCN -
DB-ID CCDC154_000002
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) 4.0E-5 View details
Owner VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CCDC154 NM_001143980.1 ?/. - c.470G>A r.(?) p.(Arg157Gln)
CLCN7 NM_001287.5 ?/. - c.*3670G>A r.(=) p.(=)