NM_000551.4(VHL):c.335A>G (p.Tyr112Cys) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 21, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000631262.9
Allele description [Variation Report for NM_000551.4(VHL):c.335A>G (p.Tyr112Cys)]
NM_000551.4(VHL):c.335A>G (p.Tyr112Cys)
Condition(s)
-
AD-017 [Homo sapiens]
AD-017 [Homo sapiens]gi|37182280|gb|AAQ88942.1|Protein
-
Mus musculus adult male spinal cord cDNA, RIKEN full-length enriched library, cl...
Mus musculus adult male spinal cord cDNA, RIKEN full-length enriched library, clone:A330102K23 product:unclassifiable, full insert sequencegi|12861405|dbj|AK020730.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024