NM_152564.5(VPS13B):c.3075G>A (p.Thr1025=) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 24, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000194526.14
Allele description [Variation Report for NM_152564.5(VPS13B):c.3075G>A (p.Thr1025=)]
NM_152564.5(VPS13B):c.3075G>A (p.Thr1025=)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
Folinic acid-responsive seizures
Folinic acid-responsive seizuresMedGen
-
C4273952[conceptid] (1)
MedGen
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See more...Assertion and evidence details
Last Updated: Nov 10, 2024