The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
- No ClinVar Id was directly found from the curated document
CA645287847
Gene: SLC6A8
Condition: creatine transporter deficiency
Inheritance Mode: X-linked inheritance
UUID: 076849d4-700b-4edf-a736-88856e13a3a2
Approved on: 2024-03-28
Published on: 2024-03-28
HGVS expressions
NM_001142805.2:c.92del
NC_000023.11:g.153688666del
CM000685.2:g.153688666del
NC_000023.10:g.152954121del
CM000685.1:g.152954121del
NC_000023.9:g.152607315del
NG_012016.1:g.5370del
NG_012016.2:g.5370del
ENST00000253122.10:c.92del
ENST00000253122.9:c.92del
ENST00000458354.5:c.-3+152del
ENST00000480693.1:n.64+152del
NM_001142805.1:c.92del
NM_005629.3:c.92del
NM_005629.4:c.92del
Evidence submitted by expert panel
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