NM_000020.3(ACVRL1):c.200G>A (p.Arg67Gln) AND Telangiectasia, hereditary hemorrhagic, type 2
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000534448.9
Allele description [Variation Report for NM_000020.3(ACVRL1):c.200G>A (p.Arg67Gln)]
NM_000020.3(ACVRL1):c.200G>A (p.Arg67Gln)
Condition(s)
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OMIM Links for Protein (Select 2249629741) (3)
OMIM
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Homo sapiens acyl-CoA dehydrogenase short/branched chain (ACADSB), transcript va...
Homo sapiens acyl-CoA dehydrogenase short/branched chain (ACADSB), transcript variant 1, mRNA; nuclear gene for mitochondrial productgi|1732746160|ref|NM_001609.4|Nucleotide
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Superfamily Member Links for Conserved Domains (Select 410916) (587)
Conserved Domains
-
Taxonomy Links for Protein (Select 503582120) (1)
Taxonomy
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txid195043[Organism:exp] (28)
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Last Updated: May 1, 2024