NM_000181.4(GUSB):c.1809dup (p.Asn604fs) AND Mucopolysaccharidosis type 7
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 2, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003495893.2
Allele description [Variation Report for NM_000181.4(GUSB):c.1809dup (p.Asn604fs)]
NM_000181.4(GUSB):c.1809dup (p.Asn604fs)
Condition(s)
- Name:
- Mucopolysaccharidosis type 7 (MPS7)
- Synonyms:
- MPS VII; Mucopolysaccharidosis type VII; MPS 7; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009662; MedGen: C0085132; Orphanet: 584; OMIM: 253220
-
Homo sapiens zinc finger protein 699 (ZNF699), mRNA
Homo sapiens zinc finger protein 699 (ZNF699), mRNAgi|1653961632|ref|NM_198535.3|Nucleotide
-
Homo sapiens cDNA: FLJ21131 fis, clone CAS06355
Homo sapiens cDNA: FLJ21131 fis, clone CAS06355gi|10437168|dbj|AK024784.1|Nucleotide
-
PREDICTED: Homo sapiens synaptogyrin 4 (SYNGR4), transcript variant X1, mRNA
PREDICTED: Homo sapiens synaptogyrin 4 (SYNGR4), transcript variant X1, mRNAgi|2217320355|ref|XM_005258693.4|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024