NM_177939.3(P4HTM):c.286dup (p.Gln96fs) AND Intellectual disability
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 31, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000850577.2
Allele description [Variation Report for NM_177939.3(P4HTM):c.286dup (p.Gln96fs)]
NM_177939.3(P4HTM):c.286dup (p.Gln96fs)
Condition(s)
- Name:
- Intellectual disability
- Synonyms:
- Intellectual functioning disability; intellectual disabilities; Intellectual developmental disorder
- Identifiers:
- MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249
-
Homo sapiens cDNA FLJ25478 fis, clone CBL03360
Homo sapiens cDNA FLJ25478 fis, clone CBL03360gi|21758339|dbj|AK098344.1|Nucleotide
-
JGI_XZG37805.rev NIH_XGC_tropGas7 Xenopus tropicalis cDNA clone IMAGE:7553013 3'...
JGI_XZG37805.rev NIH_XGC_tropGas7 Xenopus tropicalis cDNA clone IMAGE:7553013 3', mRNA sequencegi|57411674|gnl|dbEST|27117647|gb|C 86.1|Nucleotide
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Last Updated: Sep 30, 2023