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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- No ClinVar Id was directly found from the curated document
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- See Evidence submitted by expert panel for details.
Variant: NM_001142805.2:c.1176G>A
CA415086460
Gene: SLC6A8
Condition: creatine transporter deficiency
Inheritance Mode: X-linked inheritance
UUID: 620db564-09b2-4d12-8880-11763a9de93f
Approved on: 2024-03-28
Published on: 2024-03-28
HGVS expressions
NM_001142805.2:c.1176G>A
NC_000023.11:g.153693969G>A
CM000685.2:g.153693969G>A
NC_000023.10:g.152959424G>A
CM000685.1:g.152959424G>A
NC_000023.9:g.152612618G>A
NG_012016.1:g.10673G>A
NG_012016.2:g.10673G>A
ENST00000253122.10:c.1206G>A
ENST00000253122.9:c.1206G>A
ENST00000413787.1:c.258-235G>A
ENST00000430077.6:c.861G>A
ENST00000442457.1:c.260G>A
ENST00000457723.1:c.190G>A
ENST00000467402.1:n.305G>A
ENST00000485324.1:n.1239G>A
NM_001142805.1:c.1176G>A
NM_001142806.1:c.861G>A
NM_005629.3:c.1206G>A
NM_005629.4:c.1206G>A
Evidence submitted by expert panel
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