NM_000095.3(COMP):c.1621C>G (p.Pro541Ala) AND Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
- 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:
- RCV001125543.4
Allele description [Variation Report for NM_000095.3(COMP):c.1621C>G (p.Pro541Ala)]
NM_000095.3(COMP):c.1621C>G (p.Pro541Ala)
Condition(s)
-
RecName: Full=Ectonucleoside triphosphate diphosphohydrolase 7; Short=NTPDase 7;...
RecName: Full=Ectonucleoside triphosphate diphosphohydrolase 7; Short=NTPDase 7; AltName: Full=Lysosomal apyrase-like protein 1gi|123796433|sp|Q3TCT4.1|ENTP7_MOUSProtein
-
glutaminase A [Shewanella violacea DSS12]
glutaminase A [Shewanella violacea DSS12]gi|293326273|dbj|BAJ01004.1|Protein
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Last Updated: Dec 2, 2023