Annotation Detail
Information
- Associated Genes
- DMD
- Associated Variants
-
DMD p.Arg3370Ter (p.R3370*)
(
ENST00000474231.5,
ENST00000541735.5,
ENST00000378677.6,
ENST00000343523.7,
ENST00000378680.6,
ENST00000378702.8,
ENST00000378707.7,
ENST00000378723.7,
ENST00000619831.5,
ENST00000620040.5,
ENST00000680162.2,
ENST00000680355.1,
ENST00000357033.9,
ENST00000359836.5,
ENST00000361471.8,
ENST00000680557.1,
ENST00000680768.2,
ENST00000681153.1,
ENST00000682238.1,
ENST00000682322.1,
ENST00000682600.1,
ENST00000684130.1 )
DMD p.Arg3370Ter (p.R3370*) ( ENST00000343523.7, ENST00000357033.9, ENST00000359836.5, ENST00000361471.8, ENST00000378677.6, ENST00000378680.6, ENST00000378702.8, ENST00000378707.7, ENST00000378723.7, ENST00000474231.5, ENST00000541735.5, ENST00000619831.5, ENST00000620040.5, ENST00000680162.2, ENST00000680355.1, ENST00000680557.1, ENST00000680768.2, ENST00000681153.1, ENST00000682238.1, ENST00000682322.1, ENST00000682600.1, ENST00000684130.1 ) - Associated Disease
- Duchenne muscular dystrophy cardiomyopathy Becker muscular dystrophy Dystrophin deficiency
- Source Database
- ClinVar
- Description
- NM_004006.3(DMD):c.10108C>T (p.Arg3370Ter) AND multiple conditions
- ClinVar Allele ID
- 26252
- ClinVar RefSeq Alternation Syntax
- NM_004017.3:c.904C>T
- ClinVar RefSeq Alternation Syntax
- NM_004010.3:c.9739C>T
- ClinVar RefSeq Alternation Syntax
- NM_000109.4:c.10084C>T
- ClinVar RefSeq Alternation Syntax
- NM_004011.4:c.6085C>T
- ClinVar RefSeq Alternation Syntax
- NM_004019.3:c.904C>T
- ClinVar RefSeq Alternation Syntax
- NM_004015.3:c.904C>T
- ClinVar RefSeq Alternation Syntax
- NM_004006.3:c.10108C>T
- ClinVar RefSeq Alternation Syntax
- NM_004023.3:c.2728C>T
- ClinVar RefSeq Alternation Syntax
- NM_004012.4:c.6076C>T
- ClinVar RefSeq Alternation Syntax
- NM_004013.3:c.2728C>T
- ClinVar RefSeq Alternation Syntax
- NM_004018.3:c.904C>T
- ClinVar RefSeq Alternation Syntax
- NM_004020.4:c.2728C>T
- ClinVar RefSeq Alternation Syntax
- NM_004016.3:c.904C>T
- ClinVar RefSeq Alternation Syntax
- NM_004021.3:c.2728C>T
- ClinVar RefSeq Alternation Syntax
- NM_004014.3:c.1921C>T
- ClinVar RefSeq Alternation Syntax
- NM_004022.3:c.2728C>T
- ClinVar RefSeq Alternation Syntax
- NM_004009.3:c.10096C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2017-03-17
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001826457
- ClinVar Disease
- Becker muscular dystrophy
- ClinVar Disease
- Cardiomyopathy
- ClinVar Disease
- Duchenne muscular dystrophy
- ClinVar Disease
- Dystrophin deficiency
- Observed Origin Sample
- germline
Drugs