NM_000343.4(SLC5A1):c.*706C>T AND Congenital glucose-galactose malabsorption
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000354349.5
Allele description [Variation Report for NM_000343.4(SLC5A1):c.*706C>T]
NM_000343.4(SLC5A1):c.*706C>T
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
-
hypothetical protein Syn7803US44_225 [Synechococcus phage ACG-2014f]
hypothetical protein Syn7803US44_225 [Synechococcus phage ACG-2014f]gi|723028524|gb|AIX32425.1|Protein
-
Chain X, Agmatine deiminase
Chain X, Agmatine deiminasegi|238537983|pdb|3H7C|XProtein
-
creb/atf-c [Ciona intestinalis]
creb/atf-c [Ciona intestinalis]Gene ID:100101830Gene
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Last Updated: Dec 24, 2023