NM_057161.4(KLHDC3):c.187A>C (p.Lys63Gln) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 31, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004166702.1
Allele description [Variation Report for NM_057161.4(KLHDC3):c.187A>C (p.Lys63Gln)]
NM_057161.4(KLHDC3):c.187A>C (p.Lys63Gln)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
FH1/FH2 domain-containing protein 1 isoform 2 [Homo sapiens]
FH1/FH2 domain-containing protein 1 isoform 2 [Homo sapiens]gi|118572599|ref|NP_037373.2|Protein
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Last Updated: Oct 26, 2024