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_022124.6(CDH23):c.9569C>T (p.Ala3190Val)
- Curation Version - 1.1
- Curation History
- JSON LD for Version 1.1
CA137643
46076 (ClinVar)
Gene: CDH23
Condition: Usher syndrome
Inheritance Mode: Autosomal recessive inheritance
UUID: 7f246a3f-3877-4e1c-b536-a8da21fcd3b6
Approved on: 2023-11-15
Published on: 2024-04-01
HGVS expressions
NM_022124.6:c.9569C>T
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val)
NC_000010.11:g.71812826C>T
CM000672.2:g.71812826C>T
NC_000010.10:g.73572583C>T
CM000672.1:g.73572583C>T
NC_000010.9:g.73242589C>T
NG_008835.1:g.420880C>T
ENST00000224721.12:c.9569C>T
ENST00000642965.1:c.3502C>T
ENST00000647092.1:c.3166C>T
ENST00000224721.10:c.9584C>T
ENST00000398788.4:c.2849C>T
ENST00000475158.1:n.3105C>T
ENST00000619887.4:c.2849C>T
ENST00000622827.4:c.9569C>T
NM_001171933.1:c.2849C>T
NM_001171934.1:c.2849C>T
NM_001171935.1:c.260C>T
NM_001171936.1:c.260C>T
NM_022124.5:c.9569C>T
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Evidence submitted by expert panel
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