NM_001614.5(ACTG1):c.802+7G>A AND ACTG1-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 28, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004554401.2
Allele description [Variation Report for NM_001614.5(ACTG1):c.802+7G>A]
NM_001614.5(ACTG1):c.802+7G>A
Condition(s)
- Name:
- ACTG1-related disorder
- Synonyms:
- ACTG1-Related Disorders; ACTG1-related condition
- Identifiers:
-
RecName: Full=A-kinase anchor protein 6; Short=AKAP-6; AltName: Full=A-kinase an...
RecName: Full=A-kinase anchor protein 6; Short=AKAP-6; AltName: Full=A-kinase anchor protein 100 kDa; Short=AKAP 100; AltName: Full=Protein kinase A-anchoring protein 6; Short=PRKA6; AltName: Full=mAKAPgi|116241243|sp|Q13023.3|AKAP6_HUMAProtein
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024