NM_139058.3(ARX):c.333G>T (p.Ala111=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 31, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003803302.2
Allele description [Variation Report for NM_139058.3(ARX):c.333G>T (p.Ala111=)]
NM_139058.3(ARX):c.333G>T (p.Ala111=)
Condition(s)
- Name:
- Developmental and epileptic encephalopathy, 1 (DEE1)
- Synonyms:
- INFANTILE SPASM SYNDROME, X-LINKED 1; X-linked infantile spasms; West's syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010632; MedGen: C3463992; OMIM: 308350
- Name:
- Intellectual disability, X-linked, with or without seizures, arx-related (XLID29)
- Synonyms:
- MENTAL RETARDATION, X-LINKED 29; MENTAL RETARDATION, X-LINKED 32; MENTAL RETARDATION, X-LINKED 33; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010317; MedGen: C0796244; Orphanet: 777; OMIM: 300419
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Model organism or animal sample from Stilpnia cayana
Model organism or animal sample from Stilpnia cayanabiosample
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DUF1149 family protein [Lactobacillus psittaci]
DUF1149 family protein [Lactobacillus psittaci]gi|654311631|ref|WP_027824757.1|Protein
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nucleoside hydrolase [Lactobacillus psittaci]
nucleoside hydrolase [Lactobacillus psittaci]gi|736522868|ref|WP_034538074.1|Protein
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Lerista colliveri isolate Leco1 16S ribosomal RNA gene, partial sequence; mitoch...
Lerista colliveri isolate Leco1 16S ribosomal RNA gene, partial sequence; mitochondrialgi|1067529636|gb|KU309209.1|Nucleotide
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olfactory receptor 2T6 [Homo sapiens]
olfactory receptor 2T6 [Homo sapiens]gi|53793690|ref|NP_001005471.1|Protein
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Last Updated: Oct 8, 2024