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
Variant: NM_001142805.2:c.1116_1120dup
CA2579985607
Gene: SLC6A8
Condition: creatine transporter deficiency
Inheritance Mode: X-linked inheritance
UUID: 39ac7632-eadd-46df-8007-b03daf68e463
Approved on: 2023-08-08
Published on: 2024-03-29
HGVS expressions
NM_001142805.2:c.1116_1120dup
NC_000023.11:g.153693909_153693913dup
CM000685.2:g.153693909_153693913dup
NC_000023.10:g.152959364_152959368dup
CM000685.1:g.152959364_152959368dup
NC_000023.9:g.152612558_152612562dup
NG_012016.1:g.10613_10617dup
NG_012016.2:g.10613_10617dup
ENST00000253122.10:c.1146_1150dup
ENST00000253122.9:c.1146_1150dup
ENST00000413787.1:c.258-295_258-291dup
ENST00000430077.6:c.801_805dup
ENST00000442457.1:c.200_204dup
ENST00000457723.1:c.130_134dup
ENST00000467402.1:n.245_249dup
ENST00000485324.1:n.1179_1183dup
NM_001142805.1:c.1116_1120dup
NM_001142806.1:c.801_805dup
NM_005629.3:c.1146_1150dup
NM_005629.4:c.1146_1150dup
Evidence submitted by expert panel
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