Variant #0000556663 (NC_000016.9:g.1498408G>A, CLCN7(NM_001287.5):c.1961C>T)

Chromosome 16
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.1498408G>A
DNA change (hg38) g.1448407G>A
Published as CLCN7(NM_001287.5):c.1961C>T (p.T654M)
ISCN -
DB-ID CCDC154_000009
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) 0.00113 View details
Owner VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CCDC154 NM_001143980.1 -/. - c.-4085C>T r.(?) p.(=)
CLCN7 NM_001287.5 -/. - c.1961C>T r.(?) p.(Thr654Met)