NM_000081.4(LYST):c.2531T>G (p.Ile844Ser) AND Chédiak-Higashi syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 16, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002633286.3
Allele description [Variation Report for NM_000081.4(LYST):c.2531T>G (p.Ile844Ser)]
NM_000081.4(LYST):c.2531T>G (p.Ile844Ser)
Condition(s)
-
Homo sapiens family with sequence similarity 78 member A (FAM78A), transcript va...
Homo sapiens family with sequence similarity 78 member A (FAM78A), transcript variant 1, mRNAgi|1519243337|ref|NM_033387.4|Nucleotide
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Last Updated: Sep 29, 2024