NM_000021.4(PSEN1):c.308T>A (p.Val103Asp) AND Telangiectasia, hereditary hemorrhagic, type 1
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jun 24, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002471826.1
Allele description [Variation Report for NM_000021.4(PSEN1):c.308T>A (p.Val103Asp)]
NM_000021.4(PSEN1):c.308T>A (p.Val103Asp)
Condition(s)
-
thioesterase family protein [Skermanella mucosa]
thioesterase family protein [Skermanella mucosa]gi|2130791999|gnl|PRJNA693055|JL100 20|gb|UEM23688.1|Protein
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Last Updated: Aug 5, 2023