NM_175733.4(SYT9):c.454G>A (p.Val152Ile) AND not specified
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 13, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004080032.1
Allele description [Variation Report for NM_175733.4(SYT9):c.454G>A (p.Val152Ile)]
NM_175733.4(SYT9):c.454G>A (p.Val152Ile)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
Charcot-Marie-Tooth disease type 2E
Charcot-Marie-Tooth disease type 2EMedGen
-
C1843225[conceptid] (1)
MedGen
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024