Annotation Detail
Information
- Associated Genes
- PRF1
- Associated Variants
-
PRF1 p.Ala235Val (p.A235V)
(
ENST00000697572.1,
ENST00000638674.1,
ENST00000697571.1,
ENST00000441259.2,
ENST00000697573.1,
ENST00000373209.2 )
PRF1 p.Ala235Val (p.A235V) ( ENST00000373209.2, ENST00000441259.2, ENST00000638674.1, ENST00000697571.1, ENST00000697572.1, ENST00000697573.1 ) - Associated Disease
- Inborn genetic diseases
- Source Database
- ClinVar
- Description
- NM_001083116.3(PRF1):c.704C>T (p.Ala235Val) AND Inborn genetic diseases
- ClinVar Allele ID
- 956149
- ClinVar RefSeq Alternation Syntax
- NM_005041.6:c.704C>T
- ClinVar RefSeq Alternation Syntax
- NM_001083116.3:c.704C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2022-10-26
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002563968
- ClinVar Disease
- Inborn genetic diseases
- Observed Origin Sample
- germline
Drugs