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
Variant: NM_001142805.2:c.1342_1345del
CA2582121175
Gene: SLC6A8
Condition: creatine transporter deficiency
Inheritance Mode: X-linked inheritance
UUID: 5d29bd76-ac19-45ae-aeb8-2498237f5038
Approved on: 2024-03-25
Published on: 2024-03-25
HGVS expressions
NM_001142805.2:c.1342_1345del
NC_000023.11:g.153694247_153694250del
CM000685.2:g.153694247_153694250del
NC_000023.10:g.152959702_152959705del
CM000685.1:g.152959702_152959705del
NC_000023.9:g.152612896_152612899del
NG_012016.1:g.10951_10954del
NG_012016.2:g.10951_10954del
ENST00000253122.10:c.1372_1375del
ENST00000253122.9:c.1372_1375del
ENST00000413787.1:c.301_304del
ENST00000430077.6:c.1027_1030del
ENST00000442457.1:c.426_429del
ENST00000485324.1:n.1517_1520del
NM_001142805.1:c.1342_1345del
NM_001142806.1:c.1027_1030del
NM_005629.3:c.1372_1375del
NM_005629.4:c.1372_1375del
Evidence submitted by expert panel
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