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.1768-6A>G
CA644626142
436774 (ClinVar)
Gene: SLC9A6
Condition: Christianson syndrome
Inheritance Mode: X-linked inheritance
UUID: 909beb37-8b4e-46b0-88d8-1ecf70978f86
Approved on: 2023-10-13
Published on: 2023-12-11
HGVS expressions
NM_001379110.1:c.1768-6A>G
NM_001379110.1(SLC9A6):c.1768-6A>G
NC_000023.11:g.136044446A>G
CM000685.2:g.136044446A>G
NC_000023.10:g.135126605A>G
CM000685.1:g.135126605A>G
NC_000023.9:g.134954271A>G
NG_017160.1:g.64020A>G
ENST00000370695.8:c.1834-6A>G
ENST00000370701.6:c.1678-6A>G
ENST00000630721.3:c.1768-6A>G
ENST00000636092.1:c.1678-6A>G
ENST00000636206.2:n.1008-6A>G
ENST00000636347.1:c.1678-6A>G
ENST00000636625.1:n.669-6A>G
ENST00000636798.1:n.1113-6A>G
ENST00000637195.1:c.1582-6A>G
ENST00000637234.1:c.1678-6A>G
ENST00000637581.1:c.1678-6A>G
ENST00000676233.1:n.1001-6A>G
ENST00000678163.1:c.1924-6A>G
ENST00000370695.6:c.1834-6A>G
ENST00000370698.7:c.1738-6A>G
ENST00000370701.5:c.1678-6A>G
ENST00000626147.1:n.567-6A>G
ENST00000630721.1:c.414-6A>G
NM_001042537.1:c.1834-6A>G
NM_001177651.1:c.1678-6A>G
NM_006359.2:c.1738-6A>G
NM_001330652.1:c.1582-6A>G
NM_001177651.2:c.1678-6A>G
NM_001330652.2:c.1582-6A>G
NM_006359.3:c.1738-6A>G
NM_001042537.2:c.1834-6A>G
NM_001400909.1:c.1678-6A>G
NM_001400910.1:c.1678-6A>G
NM_001400911.1:c.1678-6A>G
NM_001400912.1:c.1678-6A>G
NM_001400913.1:c.1582-6A>G
Evidence submitted by expert panel
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