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_138924.3:c.58dup
CA504731701
Gene: GAMT
Condition: guanidinoacetate methyltransferase deficiency
Inheritance Mode: Autosomal recessive inheritance
UUID: 0cfc1fe1-1f59-49f3-aea2-c45dd7e81a0f
HGVS expressions
NM_138924.3:c.58dup
NC_000019.10:g.1401419dup
CM000681.2:g.1401419dup
NC_000019.9:g.1401418dup
CM000681.1:g.1401418dup
NC_000019.8:g.1352418dup
NG_009785.1:g.5135dup
ENST00000252288.8:c.58dup
ENST00000447102.8:c.58dup
ENST00000640762.1:c.58dup
ENST00000252288.6:c.58dup
ENST00000447102.7:c.58dup
NM_000156.5:c.58dup
NM_138924.2:c.58dup
NM_000156.6:c.58dup
Evidence submitted by expert panel
Approved on: 2023-05-25
Published on: 2023-05-25
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