NM_025265.4(TSEN2):c.-91A>C AND Pontoneocerebellar hypoplasia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001149765.4
Allele description [Variation Report for NM_025265.4(TSEN2):c.-91A>C]
NM_025265.4(TSEN2):c.-91A>C
Condition(s)
-
perforin-1 precursor [Mus musculus]
perforin-1 precursor [Mus musculus]gi|225735600|ref|NP_035203.3|Protein
-
chondroitin sulfate N-acetylgalactosaminyltransferase 1 isoform X1 [Homo sapiens...
chondroitin sulfate N-acetylgalactosaminyltransferase 1 isoform X1 [Homo sapiens]gi|2217372512|ref|XP_047277923.1|Protein
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See more...Assertion and evidence details
Last Updated: Aug 25, 2024