NM_006950.3(SYN1):c.1663C>T (p.Gln555Ter) AND SYN1-related disorder
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 19, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003407398.4
Allele description [Variation Report for NM_006950.3(SYN1):c.1663C>T (p.Gln555Ter)]
NM_006950.3(SYN1):c.1663C>T (p.Gln555Ter)
Condition(s)
- Name:
- SYN1-related disorder
- Synonyms:
- SYN1-related condition
- Identifiers:
-
Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2, mRNA (cDNA clone...
Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2, mRNA (cDNA clone MGC:119388 IMAGE:40006778), complete cdsgi|85662635|gb|BC105639.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 19, 2024