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
CA415075833
Gene: SLC6A8
Condition: creatine transporter deficiency
Inheritance Mode: X-linked inheritance
UUID: d0f0ac0e-6cc7-4439-9e3a-fa7890baf76e
Approved on: 2023-03-23
Published on: 2024-03-29
HGVS expressions
NM_001142805.2:c.1A>G
NC_000023.11:g.153688575A>G
CM000685.2:g.153688575A>G
NC_000023.10:g.152954030A>G
CM000685.1:g.152954030A>G
NC_000023.9:g.152607224A>G
NG_012016.1:g.5279A>G
NG_012016.2:g.5279A>G
ENST00000253122.10:c.1A>G
ENST00000253122.9:c.1A>G
ENST00000458354.5:c.-3+240T>C
ENST00000480693.1:n.64+240T>C
NM_001142805.1:c.1A>G
NM_005629.3:c.1A>G
NM_005629.4:c.1A>G
Evidence submitted by expert panel
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