NM_015164.4(PLEKHM2):c.908C>T (p.Pro303Leu) AND Dilated Cardiomyopathy, Recessive
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 27, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000707584.6
Allele description [Variation Report for NM_015164.4(PLEKHM2):c.908C>T (p.Pro303Leu)]
NM_015164.4(PLEKHM2):c.908C>T (p.Pro303Leu)
Condition(s)
- Name:
- Dilated Cardiomyopathy, Recessive
- Identifiers:
- MedGen: CN239222
-
PREDICTED: Homo sapiens centlein (CNTLN), transcript variant X10, misc_RNA
PREDICTED: Homo sapiens centlein (CNTLN), transcript variant X10, misc_RNAgi|1034670456|ref|XR_929282.2|Nucleotide
-
calmodulin-2 isoform X1 [Monodelphis domestica]
calmodulin-2 isoform X1 [Monodelphis domestica]gi|126303891|ref|XP_001375537.1|Protein
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Last Updated: Mar 5, 2024