NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu) AND Hypertrophic cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000325090.1
Allele description
NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy
- Identifiers:
- MONDO: MONDO:0005045; MedGen: C0007194; Human Phenotype Ontology: HP:0001639
-
FRS2 protein [Homo sapiens]
FRS2 protein [Homo sapiens]gi|18204301|gb|AAH21562.1|Protein
-
FN166076 sstDNA 1360 Homo sapiens cDNA clone 278483_1372_1484, mRNA sequence
FN166076 sstDNA 1360 Homo sapiens cDNA clone 278483_1372_1484, mRNA sequencegi|227627366|gnl|dbEST|65031777|emb 6076.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Jul 16, 2020