NM_022166.4(XYLT1):c.1742C>T (p.Pro581Leu) AND Desbuquois dysplasia 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 15, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000887717.7
Allele description
NM_022166.4(XYLT1):c.1742C>T (p.Pro581Leu)
Condition(s)
-
PREDICTED: Homo sapiens NLR family CARD domain containing 4 (NLRC4), transcript ...
PREDICTED: Homo sapiens NLR family CARD domain containing 4 (NLRC4), transcript variant X1, mRNAgi|2217329957|ref|XM_047445356.1|Nucleotide
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Last Updated: Apr 6, 2024