ClinVar Genomic variation as it relates to human health
NM_000490.5(AVP):c.64_66del (p.Phe22del)
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 | |||
AVP | - | - |
GRCh38 GRCh37 |
80 | 122 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Apr 1, 2004 | RCV000013006.17 |
Citations for germline classification of this variant
HelpText-mined citations for rs2148571804 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Jul 15, 2024
NCBI staff provided an HGVS expression for allelic variant 192340.0020 from the sequence reported in Figure 2 of the paper by Wahlstrom et al., 2004 (PubMed 15070970).