NM_000020.3(ACVRL1):c.270C>G (p.Cys90Trp) AND Telangiectasia, hereditary hemorrhagic, type 2
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jul 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003102134.3
Allele description [Variation Report for NM_000020.3(ACVRL1):c.270C>G (p.Cys90Trp)]
NM_000020.3(ACVRL1):c.270C>G (p.Cys90Trp)
Condition(s)
-
Homo sapiens solute carrier family 17 member 6 (SLC17A6), mRNA
Homo sapiens solute carrier family 17 member 6 (SLC17A6), mRNAgi|1653961071|ref|NM_020346.3|Nucleotide
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Genome-Wide Analysis of TCP Transcription FactorFamily in Sunflower and Identifi...
Genome-Wide Analysis of TCP Transcription FactorFamily in Sunflower and Identification of HaTCP1 Involved in the Regulation of Shoot BranchingGenome-Wide Analysis of TCP Transcription FactorFamily in Sunflower and Identification of HaTCP1 Involved in the Regulation of Shoot BranchingBioProject
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024