NM_014249.4(NR2E3):c.259dup (p.Ala87fs) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 25, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003565844.2
Allele description [Variation Report for NM_014249.4(NR2E3):c.259dup (p.Ala87fs)]
NM_014249.4(NR2E3):c.259dup (p.Ala87fs)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
cytochrome c oxidase subunit I, partial (mitochondrion) [Gorgoderina sp. FLUKE17...
cytochrome c oxidase subunit I, partial (mitochondrion) [Gorgoderina sp. FLUKE170-08]gi|215789235|gb|ACJ69659.1|Protein
-
DB040535 TESTI2 Homo sapiens cDNA clone TESTI2027370 5', mRNA sequence
DB040535 TESTI2 Homo sapiens cDNA clone TESTI2027370 5', mRNA sequencegi|81200925|gnl|dbEST|33518924|dbj| 535.1|Nucleotide
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Last Updated: Sep 29, 2024