NM_024312.5(GNPTAB):c.2802C>T (p.Ser934=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 14, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002608222.3
Allele description [Variation Report for NM_024312.5(GNPTAB):c.2802C>T (p.Ser934=)]
NM_024312.5(GNPTAB):c.2802C>T (p.Ser934=)
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
-
conserved oligomeric Golgi complex subunit 5 [Otolemur garnettii]
conserved oligomeric Golgi complex subunit 5 [Otolemur garnettii]gi|831213946|ref|XP_012667767.1|Protein
-
NADP-dependent oxidoreductase [Hymenobacter canadensis]
NADP-dependent oxidoreductase [Hymenobacter canadensis]gi|2417462882|gnl|PRJNA912861|O3303 0|gb|WBA42329.1|Protein
-
COG5 [Otolemur garnettii]
COG5 [Otolemur garnettii]Gene ID:100945839Gene
-
DC193089 Xenopus tropicalis embryo gastrula Xenopus tropicalis cDNA clone st114f...
DC193089 Xenopus tropicalis embryo gastrula Xenopus tropicalis cDNA clone st114f19 5', mRNA sequencegi|119124968|gnl|dbEST|43389922|dbj 3089.1|Nucleotide
-
CBWN16684.b1 NICHD_XGC_tropTe1 Xenopus tropicalis cDNA clone IMAGE:8921733 5', m...
CBWN16684.b1 NICHD_XGC_tropTe1 Xenopus tropicalis cDNA clone IMAGE:8921733 5', mRNA sequencegi|133801421|gnl|dbEST|45231025|gb| 065.1|Nucleotide
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Last Updated: Sep 29, 2024