NM_000263.4(NAGLU):c.532-1G>A AND multiple conditions
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 18, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002001268.5
Allele description
NM_000263.4(NAGLU):c.532-1G>A
Condition(s)
- Name:
- Mucopolysaccharidosis, MPS-III-B (MPS3B)
- Synonyms:
- NAGLU DEFICIENCY; Mucopoly-saccharidosis type 3B; Sanfilippo syndrome B; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009656; MedGen: C0086648; OMIM: 252920
-
Helicobacter canis NCTC 12740 genomic scaffold addUr-supercont-complete, whole g...
Helicobacter canis NCTC 12740 genomic scaffold addUr-supercont-complete, whole genome shotgun sequencegi|566001673|gnl|WGS:AZJJ01|addUr-s ont-complete|gb|KI669458.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Mar 5, 2024