ClinVar Genomic variation as it relates to human health
NC_000001.11:g.(16034051_16043781)_(16043881_?)del
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
CLCNKB | - | - |
GRCh38 GRCh37 |
29 | 533 | |
LOC106501712 | - | - | - | GRCh38 | - | 183 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
BARTTER SYNDROME, TYPE 4B, WITH SENSORINEURAL DEAFNESS
|
Pathogenic (1) |
|
Mar 25, 2004 | RCV000008036.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jan 15, 2023
NCBI staff provided an HGVS expression for allelic variant 602023.0008 based on the Figure 2 of the paper by Schlingmann et al., 2004 (PubMed 15044642) indicating that the upstream breakpoint was between CLCNKA and CLCNKB.