NM_032538.3(TTBK1):c.159C>G (p.Asp53Glu) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004269098.1
Allele description [Variation Report for NM_032538.3(TTBK1):c.159C>G (p.Asp53Glu)]
NM_032538.3(TTBK1):c.159C>G (p.Asp53Glu)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
RecName: Full=Ankyrin repeat domain-containing protein 13C
RecName: Full=Ankyrin repeat domain-containing protein 13Cgi|109940205|sp|Q8N6S4.2|AN13C_HUMAProtein
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024