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.1171C>T (p.Arg391Trp)
CA415086241
465141 (ClinVar)
Gene: SLC6A8
Condition: creatine transporter deficiency
Inheritance Mode: X-linked inheritance
UUID: f1b6ee67-e909-412c-8310-cd9577a3f498
Approved on: 2024-02-11
Published on: 2024-02-11
HGVS expressions
NM_005629.4:c.1171C>T
NM_005629.4(SLC6A8):c.1171C>T (p.Arg391Trp)
NC_000023.11:g.153693934C>T
CM000685.2:g.153693934C>T
NC_000023.10:g.152959389C>T
CM000685.1:g.152959389C>T
NC_000023.9:g.152612583C>T
NG_012016.1:g.10638C>T
NG_012016.2:g.10638C>T
ENST00000253122.10:c.1171C>T
ENST00000253122.9:c.1171C>T
ENST00000413787.1:c.258-270C>T
ENST00000430077.6:c.826C>T
ENST00000442457.1:c.225C>T
ENST00000457723.1:c.155C>T
ENST00000467402.1:n.270C>T
ENST00000485324.1:n.1204C>T
NM_001142805.1:c.1141C>T
NM_001142806.1:c.826C>T
NM_005629.3:c.1171C>T
NM_001142805.2:c.1141C>T
Evidence submitted by expert panel
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