NM_003995.4(NPR2):c.1249C>A (p.Gln417Lys) AND Short stature with nonspecific skeletal abnormalities
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 31, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001293679.1
Allele description [Variation Report for NM_003995.4(NPR2):c.1249C>A (p.Gln417Lys)]
NM_003995.4(NPR2):c.1249C>A (p.Gln417Lys)
Condition(s)
-
killer cell lectin-like receptor subfamily B member 1 [Homo sapiens]
killer cell lectin-like receptor subfamily B member 1 [Homo sapiens]gi|4504879|ref|NP_002249.1|Protein
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Last Updated: Oct 8, 2024