NM_004483.5(GCSH):c.293-2_293-1insT AND Multiple mitochondrial dysfunctions syndrome 7
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 5, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003236610.3
Allele description [Variation Report for NM_004483.5(GCSH):c.293-2_293-1insT]
NM_004483.5(GCSH):c.293-2_293-1insT
Condition(s)
-
Mus musculus nuclear transcription factor, X-box binding 1 (Nfx1), transcript va...
Mus musculus nuclear transcription factor, X-box binding 1 (Nfx1), transcript variant 3, mRNAgi|594190891|ref|NM_001290449.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Dec 2, 2023