Annotation Detail
Information
- Associated Genes
- LMNA
- Associated Variants
-
LMNA c.810+1G>A
(
ENST00000368297.5,
ENST00000683032.1,
ENST00000473598.6,
ENST00000677389.1,
ENST00000368301.6,
ENST00000675939.1,
ENST00000675667.1,
ENST00000676385.2,
ENST00000368300.9,
ENST00000682650.1,
ENST00000504687.7,
ENST00000448611.6,
ENST00000368299.7,
ENST00000361308.9 )
LMNA c.810+1G>A ( ENST00000361308.9, ENST00000368297.5, ENST00000368299.7, ENST00000368300.9, ENST00000368301.6, ENST00000448611.6, ENST00000473598.6, ENST00000504687.7, ENST00000675667.1, ENST00000675939.1, ENST00000676385.2, ENST00000677389.1, ENST00000682650.1, ENST00000683032.1 ) - Associated Disease
- Charcot-Marie-Tooth disease type 2
- Source Database
- ClinVar
- Description
- NM_170707.4(LMNA):c.810+1G>A AND Charcot-Marie-Tooth disease type 2
- ClinVar Allele ID
- 77836
- ClinVar RefSeq Alternation Syntax
- NM_001406991.1:c.810+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001257374.3:c.474+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406992.1:c.810+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_170708.4:c.810+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406989.1:c.474+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_170707.4:c.810+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406990.1:c.252+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406999.1:c.146+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001407003.1:c.252+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406983.1:c.810+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406985.1:c.810+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001282626.2:c.810+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406984.1:c.810+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406988.1:c.513+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406987.1:c.567+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406998.1:c.474+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001407001.1:c.146+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001282624.2:c.567+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406986.1:c.567+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406994.1:c.146+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001407000.1:c.146+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406993.1:c.252+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406995.1:c.252+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_005572.4:c.810+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001282625.2:c.810+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406996.1:c.252+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406997.1:c.252+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001407002.1:c.252+1G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-11-23
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000477527
- ClinVar Disease
- Charcot-Marie-Tooth disease type 2
- Observed Origin Sample
- germline
Drugs