NM_012387.3(PADI4):c.491T>C (p.Met164Thr) AND PADI4-related disorder
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jun 5, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003927316.1
Allele description
NM_012387.3(PADI4):c.491T>C (p.Met164Thr)
Condition(s)
- Name:
- PADI4-related disorder
- Synonyms:
- PADI4-related condition
- Identifiers:
-
Homo sapiens cytochrome c oxidase assembly factor 6 (COA6), transcript variant 1...
Homo sapiens cytochrome c oxidase assembly factor 6 (COA6), transcript variant 1, mRNAgi|331284142|ref|NM_001012985.2|Nucleotide
-
tudor domain containing 9 [Homo sapiens]
tudor domain containing 9 [Homo sapiens]gi|42734388|ref|NP_694591.1|Protein
-
NADH dehydrogenase subunit 1 (mitochondrion) [Onchocerca volvulus]
NADH dehydrogenase subunit 1 (mitochondrion) [Onchocerca volvulus]gi|2735942|gb|AAC61617.1|Protein
-
Mus musculus ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu ant...
Mus musculus ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C), mRNA (cDNA clone MGC:62534 IMAGE:5695543), complete cdsgi|30354161|gb|BC052097.1|Nucleotide
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Last Updated: May 19, 2024