NM_172107.4(KCNQ2):c.1559A>G (p.Asp520Gly) AND Developmental and epileptic encephalopathy, 7
- Germline classification:
- Uncertain significance (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002510703.2
Allele description [Variation Report for NM_172107.4(KCNQ2):c.1559A>G (p.Asp520Gly)]
NM_172107.4(KCNQ2):c.1559A>G (p.Asp520Gly)
Condition(s)
-
Homo sapiens NUMB endocytic adaptor protein (NUMB), transcript variant 1, mRNA
Homo sapiens NUMB endocytic adaptor protein (NUMB), transcript variant 1, mRNAgi|1889523876|ref|NM_001005743.2|Nucleotide
-
cytochrome oxidase subunit 1, partial (mitochondrion) [Neallogaster pekinensis]
cytochrome oxidase subunit 1, partial (mitochondrion) [Neallogaster pekinensis]gi|2572927841|dbj|BAM22119.2|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Apr 6, 2024