Variant #0000615707 (NC_000016.9:g.1497064G>C, CLCN7(NM_001287.5):c.2274C>G)

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.1497064G>C
DNA change (hg38) g.1447063G>C
Published as -
ISCN -
DB-ID CCDC154_000014
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) Variant not found in online data sets
Owner VKGL-NL_Nijmegen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CCDC154 NM_001143980.1 +?/. - c.-2741C>G r.(?) p.(=)
CLCN7 NM_001287.5 +?/. - c.2274C>G r.(?) p.(Phe758Leu)