NM_001032221.6(STXBP1):c.704_705insGG (p.Gly236fs) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 1, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001090606.18
Allele description
NM_001032221.6(STXBP1):c.704_705insGG (p.Gly236fs)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
Homologene neighbors for GEO Profiles (Select 88159701) (0)
GEO Profiles
-
Chromosome neighbors for GEO Profiles (Select 88159701) (16)
GEO Profiles
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Homo sapiens pp14571 mRNA, complete cds
Homo sapiens pp14571 mRNA, complete cdsgi|18027775|gb|AF318342.1|Nucleotide
-
Homo sapiens dual specificity phosphatase 28, mRNA (cDNA clone MGC:39555 IMAGE:5...
Homo sapiens dual specificity phosphatase 28, mRNA (cDNA clone MGC:39555 IMAGE:5298326), complete cdsgi|23271941|gb|BC036198.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Jun 17, 2024