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
-
NP_311106 (0)
ClinVar
-
GTP cyclohydrolase 1 feedback regulatory protein [Pteropus vampyrus]
GTP cyclohydrolase 1 feedback regulatory protein [Pteropus vampyrus]gi|759104932|ref|XP_011353224.1|Protein
-
3'(2'),5'-bisphosphate nucleotidase 1 [Salvelinus alpinus]
3'(2'),5'-bisphosphate nucleotidase 1 [Salvelinus alpinus]gi|1343055280|ref|XP_023830203.1|Protein
-
PREDICTED: Mus musculus pleckstrin homology domain containing, family A (phospho...
PREDICTED: Mus musculus pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 (Plekha4), transcript variant X6, mRNAgi|1907183931|ref|XM_006541165.4|Nucleotide
-
PREDICTED: tyrosine aminotransferase isoform X1 [Bos mutus]
PREDICTED: tyrosine aminotransferase isoform X1 [Bos mutus]gi|555975211|ref|XP_005899589.1|Protein
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Last Updated: May 16, 2021