NM_004972.4(JAK2):c.1290G>A (p.Lys430=) AND JAK2-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003972141.1
Allele description
NM_004972.4(JAK2):c.1290G>A (p.Lys430=)
Condition(s)
- Name:
- JAK2-related disorder
- Synonyms:
- JAK2-related condition
- Identifiers:
-
conserved hypothetical protein [Corynebacterium efficiens YS-314]
conserved hypothetical protein [Corynebacterium efficiens YS-314]gi|23492625|dbj|BAC17598.1|Protein
-
NADH dehydrogenase subunit 2 (mitochondrion) [Icterus gularis]
NADH dehydrogenase subunit 2 (mitochondrion) [Icterus gularis]gi|1833331228|gb|QJC58344.1|Protein
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Last Updated: May 19, 2024