NM_004273.5(CHST3):c.*1212C>G AND Spondyloepiphyseal dysplasia with congenital joint dislocations
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001106041.4
Allele description [Variation Report for NM_004273.5(CHST3):c.*1212C>G]
NM_004273.5(CHST3):c.*1212C>G
Condition(s)
-
thioesterase family protein [Burkholderia anthina]
thioesterase family protein [Burkholderia anthina]gi|1951803527|gnl|PRJNA686829|JFN94 0|gb|QQK05371.1|Protein
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See more...Assertion and evidence details
Last Updated: Apr 9, 2023