NM_001276345.2(TNNT2):c.522C>A (p.Asn174Lys) AND Cardiomyopathy, familial restrictive, 3
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003453229.1
Allele description [Variation Report for NM_001276345.2(TNNT2):c.522C>A (p.Asn174Lys)]
NM_001276345.2(TNNT2):c.522C>A (p.Asn174Lys)
Condition(s)
-
BF (87506)
GEO Profiles
-
Alcaligenes faecalis strain CAB20 chromosome
Alcaligenes faecalis strain CAB20 chromosomegi|2793313134|gb|CP168009.1|Nucleotide
-
Decreased activity of mitochondrial complex III
Decreased activity of mitochondrial complex IIIMedGen
-
C3149083[conceptid] (1)
MedGen
-
Agitation
AgitationMedGen
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024