Annotation Detail
Information
- Associated Genes
- FMR1 LOC107032825
- Associated Variants
-
FMR1 p.Val6= (p.V6=)
(
ENST00000218200.12,
ENST00000334557.10,
ENST00000370470.5,
ENST00000370471.7,
ENST00000370475.9,
ENST00000370477.5,
ENST00000439526.6,
ENST00000440235.6,
ENST00000495717.6,
ENST00000616382.5,
ENST00000621447.1,
ENST00000621453.5,
ENST00000685491.1,
ENST00000686086.1,
ENST00000687593.1,
ENST00000690137.1,
ENST00000690216.1,
ENST00000691111.1,
ENST00000691214.1,
ENST00000692108.1,
ENST00000693512.1 )
FMR1 p.Val6= (p.V6=) ( ENST00000218200.12, ENST00000334557.10, ENST00000370470.5, ENST00000370471.7, ENST00000370475.9, ENST00000370477.5, ENST00000439526.6, ENST00000440235.6, ENST00000495717.6, ENST00000616382.5, ENST00000621447.1, ENST00000621453.5, ENST00000685491.1, ENST00000686086.1, ENST00000687593.1, ENST00000690137.1, ENST00000690216.1, ENST00000691111.1, ENST00000691214.1, ENST00000692108.1, ENST00000693512.1 ) - Associated Disease
- fragile X-associated tremor/ataxia syndrome Premature ovarian failure 1 fragile X syndrome
- Source Database
- ClinVar
- Description
- NM_002024.6(FMR1):c.18G>T (p.Val6=) AND multiple conditions
- ClinVar Allele ID
- 580937
- ClinVar RefSeq Alternation Syntax
- NM_001185076.2:c.18G>T
- ClinVar RefSeq Alternation Syntax
- NM_001185081.2:c.18G>T
- ClinVar RefSeq Alternation Syntax
- NR_033699.2:n.279G>T
- ClinVar RefSeq Alternation Syntax
- NM_001185075.2:c.18G>T
- ClinVar RefSeq Alternation Syntax
- NM_001185082.2:c.18G>T
- ClinVar RefSeq Alternation Syntax
- NM_002024.6:c.18G>T
- ClinVar RefSeq Alternation Syntax
- NR_033700.2:n.279G>T
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2021-08-17
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002485801
- ClinVar Disease
- Premature ovarian failure 1
- ClinVar Disease
- Fragile X-associated tremor/ataxia syndrome
- ClinVar Disease
- Fragile X syndrome
- Observed Origin Sample
- unknown
Drugs