NM_012062.5(DNM1L):c.1087G>A (p.Gly363Ser) AND Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 19, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001253719.2
Allele description [Variation Report for NM_012062.5(DNM1L):c.1087G>A (p.Gly363Ser)]
NM_012062.5(DNM1L):c.1087G>A (p.Gly363Ser)
Condition(s)
-
svip*[Gene Symbol] AND xenopus laevis[Organism] (0)
GEO Profiles
-
23656706[uid] (0)
PubChem Compound
-
CBXT7149.g1 NICHD_XGC_trop_25 Xenopus tropicalis cDNA clone IMAGE:8889110 3', mR...
CBXT7149.g1 NICHD_XGC_trop_25 Xenopus tropicalis cDNA clone IMAGE:8889110 3', mRNA sequencegi|133813374|gnl|dbEST|45242981|gb| 021.1|Nucleotide
-
DC185757 Xenopus tropicalis embryo gastrula Xenopus tropicalis cDNA clone st77a2...
DC185757 Xenopus tropicalis embryo gastrula Xenopus tropicalis cDNA clone st77a20 5', mRNA sequencegi|119162474|gnl|dbEST|43426946|dbj 5757.1|Nucleotide
-
AL790929 XGC-neurula Xenopus tropicalis cDNA clone TNeu103g04 5', mRNA sequence
AL790929 XGC-neurula Xenopus tropicalis cDNA clone TNeu103g04 5', mRNA sequencegi|38313195|gnl|dbEST|20371115|emb| 929.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 17, 2022