NM_025114.4(CEP290):c.4102G>A (p.Asp1368Asn) AND not specified
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 27, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000259131.3
Allele description
NM_025114.4(CEP290):c.4102G>A (p.Asp1368Asn)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
Ewingella americana strain CIP81-94 elongation factor EF-G (fusA) gene, partial ...
Ewingella americana strain CIP81-94 elongation factor EF-G (fusA) gene, partial cdsgi|701165722|gb|KJ774537.1|Nucleotide
-
PREDICTED: Homo sapiens coiled-coil domain containing 63 (CCDC63), transcript va...
PREDICTED: Homo sapiens coiled-coil domain containing 63 (CCDC63), transcript variant X4, mRNAgi|2217287820|ref|XM_011538001.3|Nucleotide
-
Homo sapiens diphthamide biosynthesis 1 (DPH1), transcript variant 1, mRNA
Homo sapiens diphthamide biosynthesis 1 (DPH1), transcript variant 1, mRNAgi|1084352542|ref|NM_001383.4|Nucleotide
-
translation elongation factor EF1B/ribosomal protein S6 family protein [Arabidop...
translation elongation factor EF1B/ribosomal protein S6 family protein [Arabidopsis thaliana]gi|30691619|ref|NP_174314.2|Protein
-
GSK3A (0)
MedGen
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Last Updated: May 16, 2021