The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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Variant: NM_005629.4(SLC6A8):c.11A>G (p.Lys4Arg)
CA415075865
2138757 (ClinVar)
Gene: SLC6A8
Condition: creatine transporter deficiency
Inheritance Mode: X-linked inheritance
UUID: e35a57aa-8c1f-41e6-8da6-3c8632f5be9a
Approved on: 2024-01-11
Published on: 2024-03-25
HGVS expressions
NM_005629.4:c.11A>G
NM_005629.4(SLC6A8):c.11A>G (p.Lys4Arg)
NC_000023.11:g.153688585A>G
CM000685.2:g.153688585A>G
NC_000023.10:g.152954040A>G
CM000685.1:g.152954040A>G
NC_000023.9:g.152607234A>G
NG_012016.1:g.5289A>G
NG_012016.2:g.5289A>G
ENST00000253122.10:c.11A>G
ENST00000253122.9:c.11A>G
ENST00000458354.5:c.-3+230T>C
ENST00000480693.1:n.64+230T>C
NM_001142805.1:c.11A>G
NM_005629.3:c.11A>G
NM_001142805.2:c.11A>G
Evidence submitted by expert panel
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