NM_017777.4(MKS1):c.508C>T (p.Arg170Ter) AND multiple conditions
- Germline classification:
- Likely pathogenic (2 submissions)
- Last evaluated:
- Oct 11, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000668874.2
Allele description [Variation Report for NM_017777.4(MKS1):c.508C>T (p.Arg170Ter)]
NM_017777.4(MKS1):c.508C>T (p.Arg170Ter)
Condition(s)
-
matrix metalloproteinase-14 preproprotein [Homo sapiens]
matrix metalloproteinase-14 preproprotein [Homo sapiens]gi|4826834|ref|NP_004986.1|Protein
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Last Updated: Jun 17, 2024