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.403G>A (p.Asp135Asn)
CA9043671
573140 (ClinVar)
Gene: GAMT
Condition: guanidinoacetate methyltransferase deficiency
Inheritance Mode: Autosomal recessive inheritance
UUID: 8a818f12-30b9-40f0-9411-9be1e355f21b
Approved on: 2023-06-08
Published on: 2023-06-08
HGVS expressions
NM_000156.6:c.403G>A
NM_000156.6(GAMT):c.403G>A (p.Asp135Asn)
NC_000019.10:g.1399184C>T
CM000681.2:g.1399184C>T
NC_000019.9:g.1399183C>T
CM000681.1:g.1399183C>T
NC_000019.8:g.1350183C>T
NG_009785.1:g.7370G>A
ENST00000252288.8:c.403G>A
ENST00000447102.8:c.403G>A
ENST00000591788.3:n.86G>A
ENST00000640164.1:n.236G>A
ENST00000640762.1:c.334G>A
ENST00000252288.6:c.403G>A
ENST00000447102.7:c.403G>A
ENST00000591788.2:n.88G>A
NM_000156.5:c.403G>A
NM_138924.2:c.403G>A
NM_138924.3:c.403G>A
Evidence submitted by expert panel
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