Annotation Detail
Information
- Associated Genes
- HTRA2 LOXL3
- Associated Variants
-
LOXL3 c.*908C>T, HTRA2 p.Gly399Ser (p.G399S)
(
ENST00000258080.8,
ENST00000352222.7,
ENST00000437202.2,
ENST00000696727.1,
ENST00000264094.8,
ENST00000409249.5 )
LOXL3 c.*908C>T, HTRA2 p.Gly399Ser (p.G399S) ( ENST00000258080.8, ENST00000352222.7, ENST00000437202.2, ENST00000696727.1, ENST00000264094.8, ENST00000409249.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_013247.5(HTRA2):c.1195G>A (p.Gly399Ser) AND not provided
- ClinVar Allele ID
- 19380
- ClinVar RefSeq Alternation Syntax
- NM_145074.2:c.921-122G>A
- ClinVar RefSeq Alternation Syntax
- NM_032603.5:c.*908C>T
- ClinVar RefSeq Alternation Syntax
- NM_001321727.1:c.1146-122G>A
- ClinVar RefSeq Alternation Syntax
- NR_135772.1:n.1269G>A
- ClinVar RefSeq Alternation Syntax
- NR_135771.1:n.1249G>A
- ClinVar RefSeq Alternation Syntax
- NM_001321728.1:c.1116-122G>A
- ClinVar RefSeq Alternation Syntax
- NM_001289164.3:c.*908C>T
- ClinVar RefSeq Alternation Syntax
- NM_013247.5:c.1195G>A
- ClinVar RefSeq Alternation Syntax
- NR_135769.1:n.1837G>A
- ClinVar RefSeq Alternation Syntax
- NR_135770.1:n.1265G>A
- ClinVar RefSeq Alternation Syntax
- NM_001289165.2:c.*908C>T
- Clinical Significance Description
- Benign/Likely benign
- Clinical Significance Last Update
- 2024-02-01
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000891932
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs