NM_015409.5(EP400):c.1348G>A (p.Ala450Thr) AND not specified
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 4, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004385168.1
Allele description [Variation Report for NM_015409.5(EP400):c.1348G>A (p.Ala450Thr)]
NM_015409.5(EP400):c.1348G>A (p.Ala450Thr)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
Homo sapiens mitochondrial ribosomal protein L42 (MRPL42), transcript variant 2,...
Homo sapiens mitochondrial ribosomal protein L42 (MRPL42), transcript variant 2, mRNAgi|332000003|ref|NM_172177.3|Nucleotide
-
Metagenome-assembled genome: extra-SRR7533641.96_1677800541
Metagenome-assembled genome: extra-SRR7533641.96_1677800541biosample
-
Homo sapiens mitochondrial ribosomal protein S2 (MRPS2), transcript variant 3, n...
Homo sapiens mitochondrial ribosomal protein S2 (MRPS2), transcript variant 3, non-coding RNAgi|1700716536|ref|NR_051968.2|Nucleotide
-
Homo sapiens mitochondrial ribosomal protein L30 (MRPL30), transcript variant 1,...
Homo sapiens mitochondrial ribosomal protein L30 (MRPL30), transcript variant 1, mRNAgi|1519242456|ref|NM_145212.4|Nucleotide
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Last Updated: May 7, 2024