Variant #0000615710 (NC_000016.9:g.1505229G>A, CLCN7(NM_001287.5):c.1004C>T)

Chromosome 16
Allele Unknown
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.1505229G>A
DNA change (hg38) g.1455228G>A
Published as CLCN7(NM_001287.5):c.1004C>T (p.T335M)
ISCN -
DB-ID CLCN7_000027
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 View details
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CLCN7 NM_001287.5 ?/. - c.1004C>T r.(?) p.(Thr335Met)