Annotation Detail
Information
- Associated Genes
- TRPM3
- Associated Variants
-
TRPM3 p.Val1002Met (p.V1002M)
(
ENST00000396285.5,
ENST00000408909.6,
ENST00000377105.5,
ENST00000377111.8,
ENST00000377110.9,
ENST00000360823.6,
ENST00000358082.7,
ENST00000396292.8,
ENST00000396280.9,
ENST00000704573.1,
ENST00000357533.7,
ENST00000704568.1,
ENST00000677594.1,
ENST00000677713.2,
ENST00000704566.1,
ENST00000704567.1 )
TRPM3 p.Val1002Met (p.V1002M) ( ENST00000377110.9, ENST00000357533.7, ENST00000358082.7, ENST00000360823.6, ENST00000377105.5, ENST00000377111.8, ENST00000396280.9, ENST00000396285.5, ENST00000396292.8, ENST00000408909.6, ENST00000677594.1, ENST00000677713.2, ENST00000704566.1, ENST00000704567.1, ENST00000704568.1, ENST00000704573.1 ) - Associated Disease
- Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures
- Source Database
- ClinVar
- Description
- NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met) AND Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures
- ClinVar Allele ID
- 576134
- ClinVar RefSeq Alternation Syntax
- NM_206947.5:c.2554G>A
- ClinVar RefSeq Alternation Syntax
- NM_001366141.2:c.2974G>A
- ClinVar RefSeq Alternation Syntax
- NM_206946.5:c.2584G>A
- ClinVar RefSeq Alternation Syntax
- NM_206944.5:c.2479G>A
- ClinVar RefSeq Alternation Syntax
- NM_001366143.2:c.2974G>A
- ClinVar RefSeq Alternation Syntax
- NM_020952.6:c.2509G>A
- ClinVar RefSeq Alternation Syntax
- NM_001366151.2:c.2968G>A
- ClinVar RefSeq Alternation Syntax
- NM_001366154.2:c.2545G>A
- ClinVar RefSeq Alternation Syntax
- NM_001366147.2:c.3079G>A
- ClinVar RefSeq Alternation Syntax
- NM_001366145.2:c.3004G>A
- ClinVar RefSeq Alternation Syntax
- NM_001366146.2:c.3004G>A
- ClinVar RefSeq Alternation Syntax
- NM_001007471.4:c.2968G>A
- ClinVar RefSeq Alternation Syntax
- NM_001366149.2:c.2974G>A
- ClinVar RefSeq Alternation Syntax
- NM_001366152.2:c.3079G>A
- ClinVar RefSeq Alternation Syntax
- NM_001366142.2:c.3010G>A
- ClinVar RefSeq Alternation Syntax
- NM_001366148.2:c.3049G>A
- ClinVar RefSeq Alternation Syntax
- NM_024971.7:c.2545G>A
- ClinVar RefSeq Alternation Syntax
- NM_206945.5:c.2515G>A
- ClinVar RefSeq Alternation Syntax
- NM_001366150.2:c.2938G>A
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2023-05-03
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003148840
- ClinVar Disease
- Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures
- Observed Origin Sample
- germline
- Observed Origin Sample
- de novo
- Pubmed
- 34438093
- Pubmed
- 31278393
- Pubmed
- 29539642
- Pubmed
- 32439617
- Pubmed
- 35146895
- Pubmed
- 32343227
Drugs