NM_000020.3(ACVRL1):c.632G>A (p.Gly211Asp) AND Telangiectasia, hereditary hemorrhagic, type 2
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Last evaluated:
- Apr 12, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001001392.9
Allele description [Variation Report for NM_000020.3(ACVRL1):c.632G>A (p.Gly211Asp)]
NM_000020.3(ACVRL1):c.632G>A (p.Gly211Asp)
Condition(s)
-
Sequence 3769 from Patent WO2015059690
Sequence 3769 from Patent WO2015059690gi|1010602877|emb|LP128257.1||pat|W 5059690|3769Nucleotide
-
Sequence 1382 from Patent WO2015059690
Sequence 1382 from Patent WO2015059690gi|1010564741|emb|LP125870.1||pat|W 5059690|1382Nucleotide
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See more...Assertion and evidence details
Last Updated: Mar 4, 2023