NM_001830.4(CLCN4):c.1646T>C (p.Ile549Thr) AND Intellectual disability, X-linked 49
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Oct 30, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001253788.2
Allele description [Variation Report for NM_001830.4(CLCN4):c.1646T>C (p.Ile549Thr)]
NM_001830.4(CLCN4):c.1646T>C (p.Ile549Thr)
Condition(s)
- Name:
- Intellectual disability, X-linked 49 (MRXSRC)
- Synonyms:
- MRX49; MENTAL RETARDATION, X-LINKED 15; RAYNAUD-CLAES SYNDROME; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010250; MedGen: C0796221; Orphanet: 777; OMIM: 300114
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AAL060Wp [Eremothecium gossypii ATCC 10895]
AAL060Wp [Eremothecium gossypii ATCC 10895]gi|45184764|ref|NP_982482.1|Protein
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Eremothecium gossypii ATCC 10895 AAL060Wp (AGOS_AAL060W), partial mRNA
Eremothecium gossypii ATCC 10895 AAL060Wp (AGOS_AAL060W), partial mRNAgi|302306286|ref|NM_207835.2|Nucleotide
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PREDICTED: Pongo abelii GDP-mannose pyrophosphorylase B (GMPPB), transcript vari...
PREDICTED: Pongo abelii GDP-mannose pyrophosphorylase B (GMPPB), transcript variant X1, mRNAgi|2694641046|ref|XM_009239005.4|Nucleotide
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PREDICTED: Sus scrofa lysine demethylase 6B (KDM6B), mRNA
PREDICTED: Sus scrofa lysine demethylase 6B (KDM6B), mRNAgi|1191823445|ref|XM_021067833.1|Nucleotide
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ribulose-1,5-biphosphate carboxylase/oxygenase large subunit, partial (chloropla...
ribulose-1,5-biphosphate carboxylase/oxygenase large subunit, partial (chloroplast) [Amansia multifida]gi|1562112373|gb|QAU11089.1|Protein
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Last Updated: Jul 7, 2024