NM_139058.3(ARX):c.1605G>C (p.Leu535=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 18, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002067205.7
Allele description [Variation Report for NM_139058.3(ARX):c.1605G>C (p.Leu535=)]
NM_139058.3(ARX):c.1605G>C (p.Leu535=)
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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Mus musculus cell cycle associated protein 1 (Caprin1), transcript variant 1, mRNAgi|2314712509|ref|NM_016739.4|Nucleotide
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Leucosoma reevesii isolate SR2 ring finger protein 213 (RNF213) gene, partial cd...
Leucosoma reevesii isolate SR2 ring finger protein 213 (RNF213) gene, partial cdsgi|374708174|gb|HQ916120.1|Nucleotide
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Leucosoma reevesii isolate SR3 ring finger protein 213 (RNF213) gene, partial cd...
Leucosoma reevesii isolate SR3 ring finger protein 213 (RNF213) gene, partial cdsgi|374708176|gb|HQ916121.1|Nucleotide
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cytochrome b (mitochondrion) [Thraupis sayaca]
cytochrome b (mitochondrion) [Thraupis sayaca]gi|2317753550|gb|UYG47227.1|Protein
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Mus musculus keratin 1, mRNA (cDNA clone MGC:143811 IMAGE:40093580), complete cd...
Mus musculus keratin 1, mRNA (cDNA clone MGC:143811 IMAGE:40093580), complete cdsgi|109734697|gb|BC117843.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 20, 2024