NM_001267550.2(TTN):c.48589C>T (p.Arg16197Cys) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 21, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000550943.4
Allele description [Variation Report for NM_001267550.2(TTN):c.48589C>T (p.Arg16197Cys)]
NM_001267550.2(TTN):c.48589C>T (p.Arg16197Cys)
Condition(s)
-
Inguinal freckling
Inguinal frecklingMedGen
-
C1834297[conceptid] (1)
MedGen
-
Links from autonomous proteins to species level organisms for Pro... (1)
Links from autonomous proteins to species level organisms for Protein (Select 496028878)SearchTaxonomy
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Last Updated: Sep 29, 2024