NM_016955.4(SEPSECS):c.114+3A>G AND Neurodevelopmental abnormality
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 14, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001264723.8
Allele description [Variation Report for NM_016955.4(SEPSECS):c.114+3A>G]
NM_016955.4(SEPSECS):c.114+3A>G
Condition(s)
- Name:
- Neurodevelopmental abnormality
- Identifiers:
- MedGen: C4022737; Human Phenotype Ontology: HP:0012759
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Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript varian...
Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 1, mRNAgi|42542389|ref|NM_014257.3|Nucleotide
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FXYD3[gene] (36)
ClinVar
-
Homo sapiens FXYD domain containing ion transport regulator 3 (FXYD3), transcrip...
Homo sapiens FXYD domain containing ion transport regulator 3 (FXYD3), transcript variant 2, mRNAgi|1677530699|ref|NM_021910.3|Nucleotide
-
Chain C, ULTRASPIRACLE
Chain C, ULTRASPIRACLEgi|13399657|pdb|1HG4|CProtein
-
LOC129992330 [Homo sapiens]
LOC129992330 [Homo sapiens]Gene ID:129992330Gene
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Last Updated: Sep 29, 2024