NM_024312.5(GNPTAB):c.492C>T (p.Ala164=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001500711.7
Allele description [Variation Report for NM_024312.5(GNPTAB):c.492C>T (p.Ala164=)]
NM_024312.5(GNPTAB):c.492C>T (p.Ala164=)
Condition(s)
- Name:
- Mucolipidosis type II
- Synonyms:
- ML II ALPHA/BETA; I cell disease; Mucolipidosis 2; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009650; MedGen: C2673377; Orphanet: 576; OMIM: 252500
- Name:
- Pseudo-Hurler polydystrophy (ML3)
- Synonyms:
- ML III; ML III ALPHA/BETA; Mucolipidosis type 3A; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0018931; MedGen: C0033788; Orphanet: 577; OMIM: 252600
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Homo sapiens cDNA, FLJ95516
Homo sapiens cDNA, FLJ95516gi|164692276|dbj|AK314669.1|Nucleotide
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Chain A, A/G-specific adenine glycosylase
Chain A, A/G-specific adenine glycosylasegi|55670671|pdb|1WEG|AProtein
-
Microbe sample from Lacticaseibacillus rhamnosus
Microbe sample from Lacticaseibacillus rhamnosusbiosample
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adapter molecule Crk [Zootermopsis nevadensis]
adapter molecule Crk [Zootermopsis nevadensis]gi|1227997073|ref|XP_021930373.1|Protein
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multidrug resistance-associated protein 1 isoform X3 [Rattus norvegicus]
multidrug resistance-associated protein 1 isoform X3 [Rattus norvegicus]gi|2678876743|ref|XP_063124469.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024