NM_024996.7(GFM1):c.568A>C (p.Met190Leu) AND Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- Germline classification:
- Benign (2 submissions)
- 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:
- RCV000368039.7
Allele description [Variation Report for NM_024996.7(GFM1):c.568A>C (p.Met190Leu)]
NM_024996.7(GFM1):c.568A>C (p.Met190Leu)
Condition(s)
-
Homo sapiens clone MGC:15007 IMAGE:3943486
Homo sapiens clone MGC:15007 IMAGE:3943486gi|14327924|gb|BC009182.1|BC009182Nucleotide
-
Rattus norvegicus RAS like proto-oncogene A (Rala), transcript variant 1, mRNA
Rattus norvegicus RAS like proto-oncogene A (Rala), transcript variant 1, mRNAgi|2708416326|ref|NM_031093.4|Nucleotide
-
Homo sapiens interferon, alpha 6, mRNA (cDNA clone MGC:96971 IMAGE:7262180), com...
Homo sapiens interferon, alpha 6, mRNA (cDNA clone MGC:96971 IMAGE:7262180), complete cdsgi|47482146|gb|BC069471.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024