The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
- Gene obtained from curated document aligns with ClinVar but not with the Allele Registry data
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
21448 (ClinVar)
Gene: SLC6A8
Condition: creatine transporter deficiency
Inheritance Mode: X-linked inheritance
UUID: e3d1dfbb-7232-43a1-a23b-0a569a127e3e
Approved on: 2022-06-06
Published on: 2022-10-08
HGVS expressions
NM_005629.4:c.318CTT[1]
NM_005629.4(SLC6A8):c.318CTT[1] (p.Phe107del)
Evidence submitted by expert panel
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