Annotation Detail
Information
- Associated Genes
- LACC1 CCDC122
- Associated Variants
-
LACC1 p.Ile254Val (p.I254V)
(
ENST00000325686.7,
ENST00000441843.5 )
LACC1 p.Ile254Val (p.I254V) ( ENST00000325686.7, ENST00000441843.5 ) - Associated Disease
- Juvenile arthritis due to defect in LACC1
- Source Database
- ClinVar
- Description
- NM_153218.4(LACC1):c.760A>G (p.Ile254Val) AND Juvenile arthritis due to defect in LACC1
- ClinVar Allele ID
- 1290269
- ClinVar RefSeq Alternation Syntax
- NM_001350646.2:c.-9A>G
- ClinVar RefSeq Alternation Syntax
- NM_001350645.2:c.-9A>G
- ClinVar RefSeq Alternation Syntax
- NM_001350647.2:c.-9A>G
- ClinVar RefSeq Alternation Syntax
- NM_001350640.2:c.760A>G
- ClinVar RefSeq Alternation Syntax
- NM_001350639.2:c.760A>G
- ClinVar RefSeq Alternation Syntax
- NM_001350642.2:c.760A>G
- ClinVar RefSeq Alternation Syntax
- NM_001128303.2:c.760A>G
- ClinVar RefSeq Alternation Syntax
- NM_153218.4:c.760A>G
- ClinVar RefSeq Alternation Syntax
- NM_001350643.2:c.760A>G
- ClinVar RefSeq Alternation Syntax
- NM_001350641.2:c.760A>G
- ClinVar RefSeq Alternation Syntax
- NM_001350638.2:c.760A>G
- ClinVar RefSeq Alternation Syntax
- NM_001350648.2:c.-9A>G
- ClinVar RefSeq Alternation Syntax
- NM_001350644.2:c.-9A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-08-19
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001731088
- ClinVar Disease
- Juvenile arthritis due to defect in LACC1
- Observed Origin Sample
- germline
Drugs