Annotation Detail
Information
- Associated Genes
- FHL1
- Associated Variants
-
FHL1 p.Trp122Ser (p.W122S)
(
ENST00000370676.7,
ENST00000370683.6,
ENST00000394153.6,
ENST00000394155.8,
ENST00000535737.5,
ENST00000539015.5,
ENST00000543669.5,
ENST00000618438.4,
ENST00000628568.1,
ENST00000628919.3,
ENST00000629039.2,
ENST00000630084.2,
ENST00000651089.1,
ENST00000651929.2,
ENST00000652457.1 )
FHL1 p.Trp122Ser (p.W122S) ( ENST00000370676.7, ENST00000370683.6, ENST00000394153.6, ENST00000394155.8, ENST00000535737.5, ENST00000539015.5, ENST00000543669.5, ENST00000618438.4, ENST00000628568.1, ENST00000628919.3, ENST00000629039.2, ENST00000630084.2, ENST00000651089.1, ENST00000651929.2, ENST00000652457.1 ) - Associated Disease
- X-linked scapuloperoneal muscular dystrophy
- Source Database
- ClinVar
- Description
- NM_001159699.2(FHL1):c.413G>C (p.Trp138Ser) AND X-linked scapuloperoneal muscular dystrophy
- ClinVar Allele ID
- 26586
- ClinVar RefSeq Alternation Syntax
- NM_001369330.1:c.365G>C
- ClinVar RefSeq Alternation Syntax
- NM_001449.5:c.365G>C
- ClinVar RefSeq Alternation Syntax
- NM_001159704.1:c.365G>C
- ClinVar RefSeq Alternation Syntax
- NM_001330659.2:c.413G>C
- ClinVar RefSeq Alternation Syntax
- NM_001369329.1:c.365G>C
- ClinVar RefSeq Alternation Syntax
- NM_001159699.2:c.413G>C
- ClinVar RefSeq Alternation Syntax
- NM_001167819.1:c.365G>C
- ClinVar RefSeq Alternation Syntax
- NM_001159700.2:c.365G>C
- ClinVar RefSeq Alternation Syntax
- NM_001369326.1:c.365G>C
- ClinVar RefSeq Alternation Syntax
- NM_001159701.2:c.452G>C
- ClinVar RefSeq Alternation Syntax
- NM_001159702.3:c.365G>C
- ClinVar RefSeq Alternation Syntax
- NM_001369331.1:c.365G>C
- ClinVar RefSeq Alternation Syntax
- NM_001369328.1:c.365G>C
- ClinVar RefSeq Alternation Syntax
- NM_001159703.2:c.365G>C
- ClinVar RefSeq Alternation Syntax
- NR_027621.2:n.776G>C
- ClinVar RefSeq Alternation Syntax
- NM_001369327.2:c.365G>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2015-02-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000012303
- ClinVar Disease
- X-linked scapuloperoneal muscular dystrophy
- Observed Origin Sample
- germline
- Pubmed
- 30260394
- Pubmed
- 19181672
- Pubmed
- 18179901
- Pubmed
- 25274776
Drugs