Variant #0000657737 (NC_000016.9:g.1497008T>C, CLCN7(NM_001287.5):c.2330A>G)

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.1497008T>C
DNA change (hg38) g.1447007T>C
Published as CLCN7(NM_001114331.2):c.2258A>G (p.(Gln753Arg)), CLCN7(NM_001287.5):c.2330A>G (p.Q777R)
ISCN -
DB-ID CCDC154_000017 See all 2 reported entries
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_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CCDC154 NM_001143980.1 -?/. - c.-2685A>G r.(?) p.(=)
CLCN7 NM_001287.5 -?/. - c.2330A>G r.(?) p.(Gln777Arg)