NM_024334.3(TMEM43):c.644A>T (p.His215Leu) AND Arrhythmogenic right ventricular dysplasia 5
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 18, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000816678.6
Allele description [Variation Report for NM_024334.3(TMEM43):c.644A>T (p.His215Leu)]
NM_024334.3(TMEM43):c.644A>T (p.His215Leu)
Condition(s)
-
RecName: Full=Activating transcription factor 7-interacting protein 2; Short=ATF...
RecName: Full=Activating transcription factor 7-interacting protein 2; Short=ATF7-interacting protein 2; AltName: Full=MBD1-containing chromatin-associated factor 2gi|143352739|sp|Q5U623.2|MCAF2_HUMAProtein
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024