NM_024996.7(GFM1):c.748C>T (p.Arg250Trp) AND Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- Germline classification:
- Pathogenic (5 submissions)
- Last evaluated:
- Nov 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000023564.13
Allele description [Variation Report for NM_024996.7(GFM1):c.748C>T (p.Arg250Trp)]
NM_024996.7(GFM1):c.748C>T (p.Arg250Trp)
Condition(s)
-
hypothetical protein FisN_29Hh026 [Fistulifera solaris]
hypothetical protein FisN_29Hh026 [Fistulifera solaris]gi|1210519469|dbj|GAX21593.1||gnl|W SP|GAX21593Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024