Variant #0000518678 (NC_000003.11:g.184074985del, NM_004366.5:c.969del (CLCN2))

Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.184074985del
DNA change (hg38) g.184357197del
Published as -
ISCN -
DB-ID FAM131A_000013
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2020-06-16 09:30:34 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CLCN2 NM_004366.5 +/. - c.969del r.(?) p.(Phe324LeufsTer18)
FAM131A NM_144635.4 +/. - c.*12227del r.(?) p.(=)


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