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_001379110.1(SLC9A6):c.517G>A (p.Val173Ile)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA10524682
512592 (ClinVar)
Gene: SLC9A6
Condition: Christianson syndrome
Inheritance Mode: X-linked inheritance
UUID: 8392c0c2-b085-4ae9-9c28-847604704552
Approved on: 2024-02-23
Published on: 2024-03-31
HGVS expressions
NM_001379110.1:c.517G>A
NM_001379110.1(SLC9A6):c.517G>A (p.Val173Ile)
NC_000023.11:g.135998551G>A
CM000685.2:g.135998551G>A
NC_000023.10:g.135080710G>A
CM000685.1:g.135080710G>A
NC_000023.9:g.134908376G>A
NG_017160.1:g.18125G>A
ENST00000370695.8:c.673G>A
ENST00000370701.6:c.517G>A
ENST00000630721.3:c.517G>A
ENST00000636092.1:c.517G>A
ENST00000636347.1:c.517G>A
ENST00000637195.1:c.421G>A
ENST00000637234.1:c.517G>A
ENST00000637581.1:c.517G>A
ENST00000643775.1:n.460G>A
ENST00000674809.1:c.460G>A
ENST00000675550.1:n.458G>A
ENST00000675856.1:n.460G>A
ENST00000676043.1:c.460G>A
ENST00000678163.1:c.673G>A
ENST00000370695.6:c.673G>A
ENST00000370698.7:c.577G>A
ENST00000370701.5:c.517G>A
ENST00000627534.2:c.517G>A
NM_001042537.1:c.673G>A
NM_001177651.1:c.517G>A
NM_006359.2:c.577G>A
NM_001330652.1:c.421G>A
NM_001177651.2:c.517G>A
NM_001330652.2:c.421G>A
NM_006359.3:c.577G>A
NM_001042537.2:c.673G>A
NM_001400909.1:c.517G>A
NM_001400910.1:c.517G>A
NM_001400911.1:c.517G>A
NM_001400912.1:c.517G>A
NM_001400913.1:c.421G>A
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Evidence submitted by expert panel
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