The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
- Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
- No CSPEC computer assertion could be determined for this classification!
Variant: NM_000156.6(GAMT):c.507_521dup (p.Cys169_Ser173dup)
CA9043617
431959 (ClinVar)
Gene: GAMT
Condition: guanidinoacetate methyltransferase deficiency
Inheritance Mode: Autosomal recessive inheritance
UUID: 6ad8131f-e940-4765-8021-25867dfc42c3
Approved on: 2024-09-11
Published on: 2024-09-12
HGVS expressions
NM_000156.6:c.507_521dup
NM_000156.6(GAMT):c.507_521dup (p.Cys169_Ser173dup)
NC_000019.10:g.1398968_1398982dup
CM000681.2:g.1398968_1398982dup
NC_000019.9:g.1398967_1398981dup
CM000681.1:g.1398967_1398981dup
NC_000019.8:g.1349967_1349981dup
NG_009785.1:g.7575_7589dup
ENST00000252288.8:c.507_521dup
ENST00000447102.8:c.507_521dup
ENST00000591788.3:c.190_204dup
ENST00000640164.1:n.340_354dup
ENST00000640762.1:c.438_452dup
ENST00000252288.6:c.507_521dup
ENST00000447102.7:c.507_521dup
ENST00000591788.2:c.192_206dup
NM_000156.5:c.507_521dup
NM_138924.2:c.507_521dup
NM_138924.3:c.507_521dup
Evidence submitted by expert panel
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