NM_000551.4(VHL):c.217C>T (p.Gln73Ter) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 27, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000679022.5
Allele description [Variation Report for NM_000551.4(VHL):c.217C>T (p.Gln73Ter)]
NM_000551.4(VHL):c.217C>T (p.Gln73Ter)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
Rattus norvegicus gamma-aminobutyric acid type A receptor subunit beta 2 (Gabrb2...
Rattus norvegicus gamma-aminobutyric acid type A receptor subunit beta 2 (Gabrb2), transcript variant 1, mRNAgi|2726160440|ref|NM_012957.3|Nucleotide
-
Generalized hyperreflexia
Generalized hyperreflexiaMedGen
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024