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 the Allele Registry but not with ClinVar data
- No CSPEC computer assertion could be determined for this classification!
Variant: NM_005629.4(SLC6A8):c.340C>A (p.Gln114Lys)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA415077728
561109 (ClinVar)
Gene: SLC6A8
Condition: creatine transporter deficiency
Inheritance Mode: X-linked inheritance
UUID: be737472-5138-4984-ab23-ec3d5826e786
Approved on: 2024-06-13
Published on: 2024-06-24
HGVS expressions
NM_005629.4:c.340C>A
NM_005629.4(SLC6A8):c.340C>A (p.Gln114Lys)
NC_000023.11:g.153690452C>A
CM000685.2:g.153690452C>A
NC_000023.10:g.152955907C>A
CM000685.1:g.152955907C>A
NC_000023.9:g.152609101C>A
NG_012016.1:g.7156C>A
NG_012016.2:g.7156C>A
ENST00000253122.10:c.340C>A
ENST00000675713.1:n.94C>A
ENST00000253122.9:c.340C>A
ENST00000430077.6:c.-6C>A
ENST00000476466.1:n.192C>A
NM_001142805.1:c.340C>A
NM_001142806.1:c.-6C>A
NM_005629.3:c.340C>A
NM_001142805.2:c.340C>A
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Evidence submitted by expert panel
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