NM_023110.3(FGFR1):c.2074G>A (p.Glu692Lys) AND Holoprosencephaly sequence
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 13, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000223865.2
Allele description [Variation Report for NM_023110.3(FGFR1):c.2074G>A (p.Glu692Lys)]
NM_023110.3(FGFR1):c.2074G>A (p.Glu692Lys)
Condition(s)
- Name:
- Holoprosencephaly sequence (HPE)
- Synonyms:
- ARHINENCEPHALY; HOLOPROSENCEPHALY, FAMILIAL ALOBAR; HPE, FAMILIAL; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0016296; MedGen: C0079541; Orphanet: 2162; OMIM: PS236100; Human Phenotype Ontology: HP:0001360
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RNA-seq Analysis of Prmt3f/f and Prmt3LKO Mouse Tumor Transcriptomes
RNA-seq Analysis of Prmt3f/f and Prmt3LKO Mouse Tumor TranscriptomesRNA-seq Analysis of Prmt3f/f and Prmt3LKO Mouse Tumor TranscriptomesBioProject
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See more...Assertion and evidence details
Last Updated: Jul 27, 2022