NM_000512.5(GALNS):c.1003-3C>G AND Mucopolysaccharidosis, MPS-IV-A
- Germline classification:
- Conflicting interpretations of pathogenicity (3 submissions)
- Last evaluated:
- Jun 16, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001578534.8
Allele description [Variation Report for NM_000512.5(GALNS):c.1003-3C>G]
NM_000512.5(GALNS):c.1003-3C>G
Condition(s)
- Name:
- Mucopolysaccharidosis, MPS-IV-A (MPS4A)
- Synonyms:
- MPS IVA; Morquio syndrome A; MPS 4A; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009659; MedGen: C0086651; Orphanet: 309297; Orphanet: 582; OMIM: 253000
-
iron-sulfur cluster co-chaperone protein HscB, mitochondrial [Citrus x clementin...
iron-sulfur cluster co-chaperone protein HscB, mitochondrial [Citrus x clementina]gi|567874883|ref|XP_006430031.1|Protein
-
GAP Links for Gene (Select 90321) (1)
dbGaP
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024