NM_001114753.3(ENG):c.838A>T (p.Lys280Ter) AND Telangiectasia, hereditary hemorrhagic, type 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 21, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001001118.8
Allele description [Variation Report for NM_001114753.3(ENG):c.838A>T (p.Lys280Ter)]
NM_001114753.3(ENG):c.838A>T (p.Lys280Ter)
Condition(s)
-
ras and Rab interactor 2 isoform X5 [Homo sapiens]
ras and Rab interactor 2 isoform X5 [Homo sapiens]gi|2462580564|ref|XP_054179516.1|Protein
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PREDICTED: Homo sapiens chromosome 7 open reading frame 57 (C7orf57), transcript...
PREDICTED: Homo sapiens chromosome 7 open reading frame 57 (C7orf57), transcript variant X3, mRNAgi|2462612339|ref|XM_054357242.1|Nucleotide
-
dbVar for Gene (Select 28513) (928)
dbVar
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See more...Assertion and evidence details
Last Updated: Aug 5, 2023