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.6614C>T (p.Pro2205Leu)
CA137541
46014 (ClinVar)
Gene: CDH23
Condition: Usher syndrome
Inheritance Mode: Autosomal recessive inheritance
UUID: f49b45e9-308a-4c2f-8941-4ed41c897a1b
Approved on: 2023-11-15
Published on: 2024-01-10
HGVS expressions
NM_022124.6:c.6614C>T
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu)
NC_000010.11:g.71793542C>T
CM000672.2:g.71793542C>T
NC_000010.10:g.73553299C>T
CM000672.1:g.73553299C>T
NC_000010.9:g.73223305C>T
NG_008835.1:g.401596C>T
ENST00000224721.12:c.6614C>T
ENST00000224721.10:c.6629C>T
ENST00000622827.4:c.6614C>T
NM_022124.5:c.6614C>T
Evidence submitted by expert panel
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