NM_000343.4(SLC5A1):c.136-17dup AND Congenital glucose-galactose malabsorption
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002149148.6
Allele description [Variation Report for NM_000343.4(SLC5A1):c.136-17dup]
NM_000343.4(SLC5A1):c.136-17dup
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
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PREDICTED: Rattus norvegicus RNA binding motif protein 12B (Rbm12b), transcript ...
PREDICTED: Rattus norvegicus RNA binding motif protein 12B (Rbm12b), transcript variant X3, mRNAgi|2678944039|ref|XM_063287576.1|Nucleotide
-
epithelial splicing regulatory protein 1 isoform X2 [Danio rerio]
epithelial splicing regulatory protein 1 isoform X2 [Danio rerio]gi|2800557603|ref|XP_068070079.1|Protein
-
myosin-14 isoform X1 [Nomascus leucogenys]
myosin-14 isoform X1 [Nomascus leucogenys]gi|1743142585|ref|XP_030676980.1|Protein
-
transmembrane and TPR repeat-containing protein 4 isoform X6 [Apteryx rowi]
transmembrane and TPR repeat-containing protein 4 isoform X6 [Apteryx rowi]gi|1444492231|ref|XP_025922337.1|Protein
-
Argythamnia polygama isolate y85 external transcribed spacer and 18S ribosomal R...
Argythamnia polygama isolate y85 external transcribed spacer and 18S ribosomal RNA gene, partial sequencegi|2452563750|gb|OQ183701.1|Nucleotide
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Last Updated: Sep 29, 2024