NM_001040142.2(SCN2A):c.847C>G (p.Pro283Ala) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 25, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000640622.9
Allele description [Variation Report for NM_001040142.2(SCN2A):c.847C>G (p.Pro283Ala)]
NM_001040142.2(SCN2A):c.847C>G (p.Pro283Ala)
Condition(s)
-
Homo sapiens excision repair cross-complementing rodent repair deficiency, compl...
Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6, mRNA (cDNA clone MGC:150685 IMAGE:40124639), complete cdsgi|117558160|gb|BC127104.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024