NM_145046.5(CALR3):c.1067G>A (p.Arg356His) AND Hypertrophic cardiomyopathy 19
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 23, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002014197.3
Allele description [Variation Report for NM_145046.5(CALR3):c.1067G>A (p.Arg356His)]
NM_145046.5(CALR3):c.1067G>A (p.Arg356His)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy 19
- Synonyms:
- Familial hypertrophic cardiomyopathy 19
- Identifiers:
- MONDO: MONDO:0013476; MedGen: CN077603
-
Conserved Domain Links for Structure (Select 175152) (2)
Conserved Domains
-
Taxonomy Links for Nucleotide (Select 985559570) (1)
Taxonomy
-
PREDICTED: Homo sapiens kinesin family member 6 (KIF6), transcript variant X8, m...
PREDICTED: Homo sapiens kinesin family member 6 (KIF6), transcript variant X8, mRNAgi|2462606692|ref|XM_054354574.1|Nucleotide
-
(("clinical guidelines"[Resource Type]) OR "practice guideline"[P... (4)
(("clinical guidelines"[Resource Type]) OR "practice guideline"[Publication Type]) AND ("Abnormal frontal bone morphology")SearchBooks
-
Homo sapiens retrotransposon Gag like 5 (RTL5), RefSeqGene on chromosome X
Homo sapiens retrotransposon Gag like 5 (RTL5), RefSeqGene on chromosome Xgi|297207110|ref|NG_021352.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Feb 14, 2024