Annotation Detail
Information
- Associated Genes
- PAPLN LOC130056046
- Associated Variants
-
PAPLN p.Ala83Ser (p.A83S)
(
ENST00000340738.9,
ENST00000555445.5,
ENST00000554301.5,
ENST00000644200.2 )
PAPLN p.Ala83Ser (p.A83S) ( ENST00000340738.9, ENST00000554301.5, ENST00000555445.5, ENST00000644200.2 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_001365906.3(PAPLN):c.247G>T (p.Ala83Ser) AND not specified
- ClinVar Allele ID
- 2323410
- ClinVar RefSeq Alternation Syntax
- NM_173462.4:c.247G>T
- ClinVar RefSeq Alternation Syntax
- NM_001365906.3:c.247G>T
- ClinVar RefSeq Alternation Syntax
- NR_158678.2:n.340G>T
- ClinVar RefSeq Alternation Syntax
- NR_158677.2:n.340G>T
- ClinVar RefSeq Alternation Syntax
- NM_001365907.2:c.247G>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2022-11-17
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV004171804
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs