NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser) AND Leber congenital amaurosis 8
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Last evaluated:
- Mar 19, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003454681.3
Allele description [Variation Report for NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser)]
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser)
Condition(s)
-
hexosaminidase 1, isoform A [Drosophila melanogaster]
hexosaminidase 1, isoform A [Drosophila melanogaster]gi|17647501|ref|NP_523924.1|Protein
-
BJ093574 NIBB Mochii normalized Xenopus early gastrula library Xenopus laevis cD...
BJ093574 NIBB Mochii normalized Xenopus early gastrula library Xenopus laevis cDNA clone XL142n18 5', mRNA sequencegi|17593214|gnl|dbEST|10561897|dbj| 574.1|Nucleotide
-
CR574679 XGC-tailbud-head Xenopus tropicalis cDNA clone THdA040l19 5', mRNA sequ...
CR574679 XGC-tailbud-head Xenopus tropicalis cDNA clone THdA040l19 5', mRNA sequencegi|50462105|gnl|dbEST|24659887|emb| 679.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024