NM_000202.8(IDS):c.576C>T (p.Pro192=) AND Mucopolysaccharidosis, MPS-II
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001504297.7
Allele description [Variation Report for NM_000202.8(IDS):c.576C>T (p.Pro192=)]
NM_000202.8(IDS):c.576C>T (p.Pro192=)
Condition(s)
- Name:
- Mucopolysaccharidosis, MPS-II (MPS2)
- Synonyms:
- Mucopolysaccharidosis type II; Attenuated MPS (subtype; formerly known as mild MPS II); Severe MPS II; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010674; MedGen: C0026705; Orphanet: 580; OMIM: 309900
-
coiled-coil domain-containing protein 24 isoform 4 [Homo sapiens]
coiled-coil domain-containing protein 24 isoform 4 [Homo sapiens]gi|1152003040|ref|NP_001336058.1|Protein
-
PREDICTED: Homo sapiens contactin 1 (CNTN1), transcript variant X6, mRNA
PREDICTED: Homo sapiens contactin 1 (CNTN1), transcript variant X6, mRNAgi|2462530056|ref|XM_054371134.1|Nucleotide
-
nssv1454603 (0)
Identical Protein Groups
-
Ictiobus labiosus isolate I_lab_MX cytochrome b (cytb) gene, partial cds; mitoch...
Ictiobus labiosus isolate I_lab_MX cytochrome b (cytb) gene, partial cds; mitochondrialgi|347949531|gb|JF799445.1|Nucleotide
-
cytochrome c oxidase subunit I, partial (mitochondrion) [Bithynia siamensis goni...
cytochrome c oxidase subunit I, partial (mitochondrion) [Bithynia siamensis goniomphalos]gi|1789791916|gb|QHB35087.1|Protein
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Last Updated: Sep 29, 2024