Annotation Detail
Information
- Associated Genes
- LMNA
- Associated Variants
-
LMNA c.1968+1G>A
(
ENST00000675939.1,
ENST00000675667.1,
ENST00000473598.6,
ENST00000683032.1,
ENST00000361308.9,
ENST00000368299.7,
ENST00000448611.6,
ENST00000504687.7,
ENST00000368300.9,
ENST00000682650.1,
ENST00000676385.2 )
LMNA c.1968+1G>A ( ENST00000361308.9, ENST00000368299.7, ENST00000368300.9, ENST00000448611.6, ENST00000473598.6, ENST00000504687.7, ENST00000675667.1, ENST00000675939.1, ENST00000676385.2, ENST00000682650.1, ENST00000683032.1 ) - Associated Disease
- restrictive dermopathy 2
- Source Database
- ClinVar
- Description
- NM_170707.4(LMNA):c.1968+1G>A AND Restrictive dermopathy 2
- ClinVar Allele ID
- 77776
- ClinVar RefSeq Alternation Syntax
- NM_001406993.1:c.1410+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406994.1:c.1344+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_170708.4:c.1878+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406999.1:c.1344+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406983.1:c.1968+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001257374.3:c.1632+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406988.1:c.1671+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406995.1:c.1410+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001282626.2:c.1818+151G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406987.1:c.1725+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406996.1:c.1410+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001407000.1:c.1344+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406997.1:c.1410+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001407001.1:c.1344+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406986.1:c.1725+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406989.1:c.1632+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406985.1:c.1968+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406990.1:c.1410+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406991.1:c.1968+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_170707.4:c.1968+1G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2015-08-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001847645
- ClinVar Disease
- Restrictive dermopathy 2
- Observed Origin Sample
- germline
- Pubmed
- 15317753
- Pubmed
- 17469202
- Pubmed
- 25649378
Drugs