NM_001032221.6(STXBP1):c.37+1G>C AND Developmental and epileptic encephalopathy, 4
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 2, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001775315.1
Allele description [Variation Report for NM_001032221.6(STXBP1):c.37+1G>C]
NM_001032221.6(STXBP1):c.37+1G>C
Condition(s)
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PREDICTED: Homo sapiens R3H domain and coiled-coil containing 1 like (R3HCC1L), ...
PREDICTED: Homo sapiens R3H domain and coiled-coil containing 1 like (R3HCC1L), transcript variant X9, mRNAgi|2462518562|ref|XM_054365559.1|Nucleotide
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Taxonomy Links for BioSample (Select 7736411) (1)
Taxonomy
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S.cerevisiaeX2180 Rny1 and Atg2 double KO_growing(mRNA)
S.cerevisiaeX2180 Rny1 and Atg2 double KO_growing(mRNA)biosample
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Taxonomy Links for Protein (Select 1860249431) (1)
Taxonomy
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Genome Links for Protein (Select 321267522) (1)
Genome
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023