Annotation Detail
Information
- Associated Genes
- SCN1A LOC102724058
- Associated Variants
-
SCN1A p.Thr1174Ser (p.T1174S)
(
ENST00000303395.9,
ENST00000375405.7,
ENST00000409050.2,
ENST00000635750.1,
ENST00000635776.1,
ENST00000637988.1,
ENST00000640036.1,
ENST00000641575.1,
ENST00000641603.1,
ENST00000674923.1,
ENST00000713692.1 )
SCN1A p.Thr1174Ser (p.T1174S) ( ENST00000303395.9, ENST00000375405.7, ENST00000409050.2, ENST00000635750.1, ENST00000635776.1, ENST00000637988.1, ENST00000640036.1, ENST00000641575.1, ENST00000641603.1, ENST00000674923.1, ENST00000713692.1 ) - Associated Disease
- Migraine, familial hemiplegic, 3
- Source Database
- ClinVar
- Description
- NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) AND Migraine, familial hemiplegic, 3
- Observed Origin Sample
- unknown
- ClinVar Allele ID
- 79508
- ClinVar RefSeq Alternation Syntax
- NM_001353954.2:c.3485C>G
- ClinVar RefSeq Alternation Syntax
- NM_001353955.2:c.3485C>G
- ClinVar RefSeq Alternation Syntax
- NM_001353951.2:c.3488C>G
- ClinVar RefSeq Alternation Syntax
- NM_001353957.2:c.3437C>G
- ClinVar RefSeq Alternation Syntax
- NM_001353950.2:c.3488C>G
- ClinVar RefSeq Alternation Syntax
- NM_001353958.2:c.3437C>G
- ClinVar RefSeq Alternation Syntax
- NR_148667.2:n.3874C>G
- ClinVar RefSeq Alternation Syntax
- NM_001202435.3:c.3521C>G
- ClinVar RefSeq Alternation Syntax
- NM_001353960.2:c.3434C>G
- ClinVar RefSeq Alternation Syntax
- NM_001353961.2:c.1079C>G
- ClinVar RefSeq Alternation Syntax
- NM_001165963.4:c.3521C>G
- ClinVar RefSeq Alternation Syntax
- NM_006920.6:c.3488C>G
- ClinVar RefSeq Alternation Syntax
- NM_001165964.3:c.3437C>G
- ClinVar RefSeq Alternation Syntax
- NM_001353948.2:c.3521C>G
- ClinVar RefSeq Alternation Syntax
- NR_110598.1:n.199G>C
- ClinVar RefSeq Alternation Syntax
- NM_001353949.2:c.3488C>G
- ClinVar RefSeq Alternation Syntax
- NM_001353952.2:c.3488C>G
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2017-04-27
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000059493
- ClinVar Disease
- Migraine, familial hemiplegic, 3
- Observed Origin Sample
- germline
- Observed Origin Sample
- not provided
Drugs