NM_006688.5(C1QL1):c.655A>G (p.Ser219Gly) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 25, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004352418.1
Allele description [Variation Report for NM_006688.5(C1QL1):c.655A>G (p.Ser219Gly)]
NM_006688.5(C1QL1):c.655A>G (p.Ser219Gly)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
Seizures, benign familial infantile, 2
Seizures, benign familial infantile, 2MedGen
-
C1853995[conceptid] (1)
MedGen
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See more...Assertion and evidence details
Last Updated: Aug 25, 2024