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 computed assertion could be determined for this classification!
Variant: NM_000231.3(SGCG):c.525del (p.Phe175fs)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA346837
189243 (ClinVar)
Gene: SGCG
Condition: autosomal recessive limb-girdle muscular dystrophy
Inheritance Mode: Autosomal recessive inheritance
UUID: 4503b450-84a7-485a-b082-22222ddf43a9
Approved on: 2025-01-08
Published on: 2025-01-08
HGVS expressions
NM_000231.3:c.525del
NM_000231.3(SGCG):c.525del (p.Phe175fs)
NC_000013.11:g.23295434del
CM000675.2:g.23295434del
NC_000013.10:g.23869573del
CM000675.1:g.23869573del
NC_000013.9:g.22767573del
NG_008759.1:g.119514del
ENST00000683210.1:c.2186-6187del
ENST00000218867.4:c.525del
ENST00000218867.3:c.525del
NM_000231.2:c.525del
NM_001378244.1:c.579del
NM_001378245.1:c.525del
NM_001378246.1:c.525del
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Evidence submitted by expert panel
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