NM_145046.5(CALR3):c.1013G>T (p.Gly338Val) AND Hypertrophic cardiomyopathy 19
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 14, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003830917.1
Allele description [Variation Report for NM_145046.5(CALR3):c.1013G>T (p.Gly338Val)]
NM_145046.5(CALR3):c.1013G>T (p.Gly338Val)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy 19
- Synonyms:
- Familial hypertrophic cardiomyopathy 19
- Identifiers:
- MONDO: MONDO:0013476; MedGen: CN077603
-
Homo sapiens RNA (guanine-7-) methyltransferase, mRNA (cDNA clone IMAGE:3935650)...
Homo sapiens RNA (guanine-7-) methyltransferase, mRNA (cDNA clone IMAGE:3935650), partial cdsgi|14710038|gb|BC005290.1|Nucleotide
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Last Updated: Mar 5, 2024