NM_004795.4(KL):c.807C>G (p.His269Gln) AND KL-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 14, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003951080.1
Allele description [Variation Report for NM_004795.4(KL):c.807C>G (p.His269Gln)]
NM_004795.4(KL):c.807C>G (p.His269Gln)
Condition(s)
- Name:
- KL-related disorder
- Synonyms:
- KL-related condition
- Identifiers:
-
Chain q, Growth arrest and DNA damage-inducible proteins-interacting protein 1
Chain q, Growth arrest and DNA damage-inducible proteins-interacting protein 1gi|2095360594|pdb|7OIC|qProtein
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Last Updated: May 26, 2024