Variant #0000556657 (NC_000016.9:g.1493538G>A, CLCN7(NM_001287.5):c.*3094C>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.1493538G>A
DNA change (hg38) g.1443537G>A
Published as CCDC154(NM_001143980.1):c.383C>T (p.(Ala128Val))
ISCN -
DB-ID CCDC154_000003
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) 0.00025 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.383C>T r.(?) p.(Ala128Val)
CLCN7 NM_001287.5 -?/. - c.*3094C>T r.(=) p.(=)