NM_000503.6(EYA1):c.1748T>C (p.Leu583Pro) AND not provided
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 15, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002243687.2
Allele description [Variation Report for NM_000503.6(EYA1):c.1748T>C (p.Leu583Pro)]
NM_000503.6(EYA1):c.1748T>C (p.Leu583Pro)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
Transmembrane osmosensor [Komagataella phaffii GS115]
Transmembrane osmosensor [Komagataella phaffii GS115]gi|254564759|ref|XP_002489490.1|Protein
-
HG02058 AND estd219 (0)
PMC
-
SEvtMap (0)
ToolKitBookgh
-
PREDICTED: Homo sapiens dynein axonemal heavy chain 7 (DNAH7), transcript varian...
PREDICTED: Homo sapiens dynein axonemal heavy chain 7 (DNAH7), transcript variant X5, mRNAgi|2217329617|ref|XM_011511491.4|Nucleotide
-
dnaJ homolog subfamily B member 6 [Aythya fuligula]
dnaJ homolog subfamily B member 6 [Aythya fuligula]gi|1802839215|ref|XP_032036827.1|Protein
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Last Updated: Dec 24, 2023