ClinVar Genomic variation as it relates to human health
NM_000460.4(THPO):c.-31G>T
Germline
Classification
(2)
Likely pathogenic
criteria provided, single submitter
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 | |||
THPO | - | - |
GRCh38 GRCh37 |
135 | 178 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 20, 2009 | RCV000010118.6 | |
Likely pathogenic (1) |
|
Nov 25, 2022 | RCV003231097.1 |
Citations for germline classification of this variant
HelpText-mined citations for rs771269271 ...
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 Dec 25, 2023
NCBI staff provided an HGVS expression for allelic variant 600044.0003 based on the sequence reported in Figure 1 of the paper by Ghilardi et al., 1999 (PubMed 10583217).