Annotation Detail
Information
- Associated Genes
- DMD
- Associated Variants
-
DMD c.6763-2A>G
(
ENST00000357033.9,
ENST00000359836.5,
ENST00000378677.6,
ENST00000378707.7,
ENST00000474231.5,
ENST00000541735.5,
ENST00000619831.5,
ENST00000620040.5,
ENST00000682238.1,
ENST00000684130.1 )
DMD c.6763-2A>G ( ENST00000357033.9, ENST00000359836.5, ENST00000378677.6, ENST00000378707.7, ENST00000474231.5, ENST00000541735.5, ENST00000619831.5, ENST00000620040.5, ENST00000682238.1, ENST00000684130.1 ) - Associated Disease
- Duchenne muscular dystrophy
- Source Database
- ClinVar
- Description
- NM_004006.3(DMD):c.6763-2A>G AND Duchenne muscular dystrophy
- ClinVar Allele ID
- 100645
- ClinVar RefSeq Alternation Syntax
- NM_004011.4:c.2740-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_004023.3:c.-618-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_004013.3:c.-618-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_004020.4:c.-618-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_004009.3:c.6751-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_004022.3:c.-618-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_004010.3:c.6394-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_004006.3:c.6763-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_004012.4:c.2731-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_004021.3:c.-618-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_000109.4:c.6739-2A>G
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2023-09-19
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002034586
- ClinVar Disease
- Duchenne muscular dystrophy
- Observed Origin Sample
- germline
Drugs