NM_004273.5(CHST3):c.*1385T>C 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:
- RCV001108258.4
Allele description [Variation Report for NM_004273.5(CHST3):c.*1385T>C]
NM_004273.5(CHST3):c.*1385T>C
Condition(s)
-
xylulokinase [Burkholderia stagnalis]
xylulokinase [Burkholderia stagnalis]gi|981714091|ref|WP_059908946.1|Protein
-
cytochrome oxidase putative small subunit CydP [Burkholderia stagnalis]
cytochrome oxidase putative small subunit CydP [Burkholderia stagnalis]gi|2159784999|ref|WP_230942011.1|Protein
-
EAL domain-containing protein [Burkholderia stagnalis]
EAL domain-containing protein [Burkholderia stagnalis]gi|981895788|ref|WP_060080964.1|Protein
-
alpha/beta fold hydrolase [Burkholderia stagnalis]
alpha/beta fold hydrolase [Burkholderia stagnalis]gi|981714534|ref|WP_059909389.1|Protein
-
MFS transporter [Burkholderia stagnalis]
MFS transporter [Burkholderia stagnalis]gi|981714104|ref|WP_059908959.1|Protein
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See more...Assertion and evidence details
Last Updated: Apr 9, 2023