NM_000020.3(ACVRL1):c.87C>T (p.Gly29=) AND Telangiectasia, hereditary hemorrhagic, type 2
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 22, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002570822.2
Allele description [Variation Report for NM_000020.3(ACVRL1):c.87C>T (p.Gly29=)]
NM_000020.3(ACVRL1):c.87C>T (p.Gly29=)
Condition(s)
-
Homo sapiens speedy/RINGO cell cycle regulator family member E2 (SPDYE2), transc...
Homo sapiens speedy/RINGO cell cycle regulator family member E2 (SPDYE2), transcript variant 2, mRNAgi|261490709|ref|NM_001031618.3|Nucleotide
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ZNF765 zinc finger protein 765 [Homo sapiens]
ZNF765 zinc finger protein 765 [Homo sapiens]Gene ID:91661Gene
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See more...Assertion and evidence details
Last Updated: May 1, 2024