NM_001256686.2(CSNK2A3):c.580T>C (p.Ser194Pro) AND Okur-Chung neurodevelopmental syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002245284.1
Allele description [Variation Report for NM_001256686.2(CSNK2A3):c.580T>C (p.Ser194Pro)]
NM_001256686.2(CSNK2A3):c.580T>C (p.Ser194Pro)
Condition(s)
-
Taxonomy Links for Nucleotide (Select 440497710) (1)
Taxonomy
-
Anopheles funestus NI07 from Nigeria NADH dehydrogenase subunit 5 (ND5) gene, pa...
Anopheles funestus NI07 from Nigeria NADH dehydrogenase subunit 5 (ND5) gene, partial cds; mitochondrialgi|73914866|gb|DQ103143.1|Nucleotide
-
Conserved Domain Links for Protein (Select 1060099122) (1)
Conserved Domains
-
cytochrome oxidase subunit 1, partial (mitochondrion) [Lepeophtheirus salmonis]
cytochrome oxidase subunit 1, partial (mitochondrion) [Lepeophtheirus salmonis]gi|211997507|gb|ACJ14707.1|Protein
-
Enterobacter sp. UIWRF0759 16S ribosomal RNA gene, partial sequence
Enterobacter sp. UIWRF0759 16S ribosomal RNA gene, partial sequencegi|861557058|gb|KR189987.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Dec 24, 2023