Annotation Detail
Information
- Associated Genes
- POMGNT2
- Associated Variants
-
POMGNT2 p.Arg225Gln (p.R225Q)
(
ENST00000344697.3,
ENST00000441964.1,
ENST00000686643.1,
ENST00000687440.1,
ENST00000689987.1,
ENST00000692017.1,
ENST00000693717.1 )
POMGNT2 p.Arg225Gln (p.R225Q) ( ENST00000344697.3, ENST00000441964.1, ENST00000686643.1, ENST00000687440.1, ENST00000689987.1, ENST00000692017.1, ENST00000693717.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_032806.6(POMGNT2):c.674G>A (p.Arg225Gln) AND not provided
- ClinVar Allele ID
- 251136
- ClinVar RefSeq Alternation Syntax
- NM_032806.6:c.674G>A
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2020-06-05
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001697692
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs