NM_000202.8(IDS):c.898T>G (p.Tyr300Asp) AND Mucopolysaccharidosis, MPS-II
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 16, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001297916.6
Allele description [Variation Report for NM_000202.8(IDS):c.898T>G (p.Tyr300Asp)]
NM_000202.8(IDS):c.898T>G (p.Tyr300Asp)
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
-
Mus musculus estrogen-induced osteoclastogenesis regulator 1 (Eeig1), mRNA
Mus musculus estrogen-induced osteoclastogenesis regulator 1 (Eeig1), mRNAgi|2176733615|ref|NM_153560.5|Nucleotide
-
Homo sapiens leucine zipper like post translational regulator 1 (LZTR1), RefSeqG...
Homo sapiens leucine zipper like post translational regulator 1 (LZTR1), RefSeqGene (LRG_989) on chromosome 22gi|663071208|ref|NG_034193.1||gnl|L G_989Nucleotide
-
KANSL1 [Tursiops truncatus]
KANSL1 [Tursiops truncatus]Gene ID:101315768Gene
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Last Updated: Mar 5, 2024