NM_000343.4(SLC5A1):c.1230C>G (p.Tyr410Ter) AND Congenital glucose-galactose malabsorption
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Dec 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000312958.7
Allele description [Variation Report for NM_000343.4(SLC5A1):c.1230C>G (p.Tyr410Ter)]
NM_000343.4(SLC5A1):c.1230C>G (p.Tyr410Ter)
Condition(s)
- Name:
- Congenital glucose-galactose malabsorption (GGM)
- Synonyms:
- Glucose galactose malabsorption deficiency; Carbohydrate intolerance of glucose galactose; Complex carbohydrate intolerance; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011731; MedGen: C0268186; Orphanet: 35710; OMIM: 606824
-
numb, isoform B [Drosophila melanogaster]
numb, isoform B [Drosophila melanogaster]gi|24583045|ref|NP_723460.1|Protein
-
4-hydroxybenzoyl-CoA thioesterase [Pseudomonas silesiensis]
4-hydroxybenzoyl-CoA thioesterase [Pseudomonas silesiensis]gi|1035885827|gnl|PRJNA315635|PMA3_ |gb|ANJ58801.1|Protein
-
OAS1 [Eptesicus fuscus]
OAS1 [Eptesicus fuscus]Gene ID:103287239Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024