NM_003611.3(OFD1):c.121C>T (p.Arg41Ter) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 24, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001383219.15
Allele description [Variation Report for NM_003611.3(OFD1):c.121C>T (p.Arg41Ter)]
NM_003611.3(OFD1):c.121C>T (p.Arg41Ter)
Condition(s)
- Name:
- Familial aplasia of the vermis
- Synonyms:
- CEREBELLOPARENCHYMAL DISORDER IV; Joubert syndrome; Cerebelloparenchymal disorder 4; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0018772; MedGen: C0431399; Orphanet: 475; OMIM: PS213300
- Name:
- Orofaciodigital syndrome I (OFD1)
- Synonyms:
- OFDS I; Orofaciodigital syndrome 1; OFD syndrome 1; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010702; MedGen: C1510460; Orphanet: 2750; OMIM: 311200
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Rattus norvegicus histidine rich calcium binding protein (Hrc), mRNA
Rattus norvegicus histidine rich calcium binding protein (Hrc), mRNAgi|31077131|ref|NM_181369.1|Nucleotide
-
CBTA4229.rev NICHD_XGC_tropPanc1 Xenopus tropicalis cDNA clone IMAGE:8876811 3',...
CBTA4229.rev NICHD_XGC_tropPanc1 Xenopus tropicalis cDNA clone IMAGE:8876811 3', mRNA sequencegi|129343118|gnl|dbEST|45163051|gb| 411.1|Nucleotide
-
DC168399 Xenopus tropicalis embryo gastrula Xenopus tropicalis cDNA clone st19h1...
DC168399 Xenopus tropicalis embryo gastrula Xenopus tropicalis cDNA clone st19h11 5', mRNA sequencegi|119143923|gnl|dbEST|43408877|dbj 8399.1|Nucleotide
-
AL971727 XGC-gastrula Xenopus tropicalis cDNA clone TGas138j22 5', mRNA sequence
AL971727 XGC-gastrula Xenopus tropicalis cDNA clone TGas138j22 5', mRNA sequencegi|39032840|gnl|dbEST|20759287|emb| 727.2|Nucleotide
-
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Last Updated: Oct 20, 2024