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.439C>T
CA402995088
Gene: GAMT
Condition: guanidinoacetate methyltransferase deficiency
Inheritance Mode: Autosomal recessive inheritance
UUID: 578f0aa4-5ea7-4f9b-a584-c6607d0cf64d
Approved on: 2023-03-23
Published on: 2023-03-29
HGVS expressions
NM_138924.3:c.439C>T
NC_000019.10:g.1399148G>A
CM000681.2:g.1399148G>A
NC_000019.9:g.1399147G>A
CM000681.1:g.1399147G>A
NC_000019.8:g.1350147G>A
NG_009785.1:g.7406C>T
ENST00000252288.8:c.439C>T
ENST00000447102.8:c.439C>T
ENST00000591788.3:n.122C>T
ENST00000640164.1:n.272C>T
ENST00000640762.1:c.370C>T
ENST00000252288.6:c.439C>T
ENST00000447102.7:c.439C>T
ENST00000591788.2:n.124C>T
NM_000156.5:c.439C>T
NM_138924.2:c.439C>T
NM_000156.6:c.439C>T
Evidence submitted by expert panel
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