Annotation Detail
Information
- Associated Genes
- NLRP7
- Associated Variants
-
NLRP7 p.Leu398Arg (p.L398R)
(
ENST00000328092.9,
ENST00000340844.6,
ENST00000588756.5,
ENST00000590030.5,
ENST00000592784.6 )
NLRP7 p.Leu398Arg (p.L398R) ( ENST00000328092.9, ENST00000340844.6, ENST00000588756.5, ENST00000590030.5, ENST00000592784.6 ) - Associated Disease
- Hydatidiform mole, recurrent, 1
- Source Database
- ClinVar
- Description
- NM_001127255.2(NLRP7):c.1193T>G (p.Leu398Arg) AND Hydatidiform mole, recurrent, 1
- ClinVar Allele ID
- 16631
- ClinVar RefSeq Alternation Syntax
- NM_001127255.2:c.1193T>G
- ClinVar RefSeq Alternation Syntax
- NM_139176.4:c.1193T>G
- ClinVar RefSeq Alternation Syntax
- NM_206828.4:c.1193T>G
- ClinVar RefSeq Alternation Syntax
- NM_001405531.1:c.1193T>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2009-08-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000001659
- ClinVar Disease
- Hydatidiform mole, recurrent, 1
- Observed Origin Sample
- germline
- Observed Origin Sample
- not provided
- Pubmed
- 12471053
- Pubmed
- 19246479
Drugs