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_000156.6(GAMT):c.668dup (p.Tyr223Ter)
CA9043535
445930 (ClinVar)
Gene: GAMT
Condition: guanidinoacetate methyltransferase deficiency
Inheritance Mode: Autosomal recessive inheritance
UUID: f6f8e4cb-33d9-4fa9-94fb-1a80b311d2ee
Approved on: 2022-06-06
Published on: 2022-10-07
HGVS expressions
NM_000156.6:c.668dup
NM_000156.6(GAMT):c.668dup (p.Tyr223Ter)
NC_000019.10:g.1397402dup
CM000681.2:g.1397402dup
NC_000019.9:g.1397401dup
CM000681.1:g.1397401dup
NC_000019.8:g.1348401dup
NG_008283.1:g.18519dup
NG_009785.1:g.9152dup
ENST00000252288.8:c.668dup
ENST00000640164.1:n.501dup
ENST00000640762.1:c.599dup
ENST00000252288.6:c.668dup
NM_000156.5:c.668dup
Evidence submitted by expert panel
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