Variant #0000649231 (NC_000016.9:g.1507737G>A, CLCN7(NM_001287.5):c.696C>T)

Individual ID 00291374
Chromosome 16
Allele Parent #1
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.1507737G>A
DNA change (hg38) g.1457736G>A
Published as -
ISCN -
DB-ID CLCN7_000010 See all 2 reported entries
Variant remarks 12 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs117183989
Origin Germline
Segregation -
Frequency 12/2795 individuals
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00971 View details
Owner Mohammed Faruq
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CLCN7 NM_001287.5 ?/. - c.696C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000292542 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq