NM_139058.3(ARX):c.312G>C (p.Ala104=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003815663.2
Allele description [Variation Report for NM_139058.3(ARX):c.312G>C (p.Ala104=)]
NM_139058.3(ARX):c.312G>C (p.Ala104=)
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
-
Homo sapiens transmembrane protein 121B (TMEM121B), transcript variant 1, mRNA
Homo sapiens transmembrane protein 121B (TMEM121B), transcript variant 1, mRNAgi|1653960419|ref|NM_031890.4|Nucleotide
-
Homo sapiens HD domain containing 2, mRNA (cDNA clone IMAGE:2820689), complete c...
Homo sapiens HD domain containing 2, mRNA (cDNA clone IMAGE:2820689), complete cdsgi|33876399|gb|BC001671.2|Nucleotide
-
HWC25_gp030 [Aeromonas phage 2L372D]
HWC25_gp030 [Aeromonas phage 2L372D]Gene ID:55616518Gene
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Last Updated: Oct 8, 2024