NM_000277.3(PAH):c.914_1199+1del AND Phenylketonuria
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jul 25, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001789825.1
Allele description [Variation Report for NM_000277.3(PAH):c.914_1199+1del]
NM_000277.3(PAH):c.914_1199+1del
Condition(s)
-
G protein-activated inward rectifier potassium channel 3 [Mus musculus]
G protein-activated inward rectifier potassium channel 3 [Mus musculus]gi|111607443|ref|NP_032455.2|Protein
-
Enteral Nutrition
Enteral NutritionNutritional support given via the alimentary canal or any route connected to the gastrointestinal system (i.e., the enteral route). This includes oral feeding, sip feeding, an...<br/>Year introduced: 1992MeSH
-
D004750 (1)
MeSH
-
Mus musculus chromosome 3 genomic contig, GRC reference assembly alternate locus...
Mus musculus chromosome 3 genomic contig, GRC reference assembly alternate locus group NOD/MrkTacgi|307568839|gnl|ASM:GCA_000001715. HR3_NOD_IDD3_1|gb|GL456048.1|Nucleotide
-
Mus musculus chromosome 6 genomic contig, GRC reference assembly alternate locus...
Mus musculus chromosome 6 genomic contig, GRC reference assembly alternate locus group 129S1/SvImJgi|307568862|gnl|ASM:GCA_000001665. S1/SVIMJ_MMCHR6_CTG1|gb|GL456025.1|Nucleotide
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Last Updated: Apr 23, 2022