NM_080749.4(NEURL2):c.-13C>T AND Combined deficiency of sialidase AND beta galactosidase
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000364953.14
Allele description [Variation Report for NM_080749.4(NEURL2):c.-13C>T]
NM_080749.4(NEURL2):c.-13C>T
Condition(s)
- Name:
- Combined deficiency of sialidase AND beta galactosidase (GSL)
- Synonyms:
- CATHEPSIN A DEFICIENCY; Galactosialidosis; Goldberg syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009737; MedGen: C0268233; Orphanet: 351; OMIM: 256540
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Chain A, SPRY domain-containing SOCS box protein 2
Chain A, SPRY domain-containing SOCS box protein 2gi|1621110249|pdb|6DN5|AProtein
-
Mus musculus tetraspanin 3 (Tspan3), mRNA
Mus musculus tetraspanin 3 (Tspan3), mRNAgi|254281188|ref|NM_019793.3|Nucleotide
-
Homo sapiens transmembrane protein 52 (TMEM52), mRNA
Homo sapiens transmembrane protein 52 (TMEM52), mRNAgi|1519315218|ref|NM_178545.4|Nucleotide
-
Mus musculus domesticus isolate MWN1089 probasin (Pbsn) gene, complete cds
Mus musculus domesticus isolate MWN1089 probasin (Pbsn) gene, complete cdsgi|336089973|gb|HQ620103.1|Nucleotide
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RAB8A [Pan paniscus]
RAB8A [Pan paniscus]Gene ID:100993687Gene
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Last Updated: Sep 16, 2024