NM_014297.5(ETHE1):c.246G>T (p.Ala82=) AND Ethylmalonic encephalopathy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 23, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002156084.6
Allele description [Variation Report for NM_014297.5(ETHE1):c.246G>T (p.Ala82=)]
NM_014297.5(ETHE1):c.246G>T (p.Ala82=)
Condition(s)
-
E3 ubiquitin-protein ligase RNF115 [Homo sapiens]
E3 ubiquitin-protein ligase RNF115 [Homo sapiens]gi|33859668|ref|NP_055270.1|Protein
-
Saccoglossus kowalevskii Wnt9 mRNA, complete cds
Saccoglossus kowalevskii Wnt9 mRNA, complete cdsgi|268054410|gb|GU076163.1|Nucleotide
-
B-box zinc finger protein 18-like [Physcomitrium patens]
B-box zinc finger protein 18-like [Physcomitrium patens]gi|1373926039|ref|XP_024387802.1|Protein
-
Echinochloa pyramidalis maturase K (matK) gene, partial cds; chloroplast
Echinochloa pyramidalis maturase K (matK) gene, partial cds; chloroplastgi|837371196|gnl|uoguelph|UHURU1077 atK|gb|KR734724.1|Nucleotide
-
Ocimum sp. TRK-2015 maturase K (matK) gene, partial cds; chloroplast
Ocimum sp. TRK-2015 maturase K (matK) gene, partial cds; chloroplastgi|837371688|gnl|uoguelph|UHURU1291 atK|gb|KR734886.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024