NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser) AND not provided
- Germline classification:
- Pathogenic/Likely pathogenic (4 submissions)
- Last evaluated:
- Dec 28, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000723428.13
Allele description [Variation Report for NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser)]
NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
Trisetum laconicum (0)
GEO DataSets
-
splicing factor, arginine/serine-rich 6 [Mus musculus]
splicing factor, arginine/serine-rich 6 [Mus musculus]gi|148674361|gb|EDL06308.1||gnl|WGS |mCP5876Protein
-
Chain A, CHECKPOINT KINASE 2
Chain A, CHECKPOINT KINASE 2gi|282403557|pdb|2WTJ|AProtein
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Last Updated: Sep 29, 2024