NM_001110792.2(MECP2):c.144_147del (p.Glu49fs) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 1, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000473677.2
Allele description [Variation Report for NM_001110792.2(MECP2):c.144_147del (p.Glu49fs)]
NM_001110792.2(MECP2):c.144_147del (p.Glu49fs)
Condition(s)
- Name:
- Angelman syndrome (AS)
- Synonyms:
- HAPPY PUPPET SYNDROME; Happy puppet syndrome (formerly)
- Identifiers:
- MONDO: MONDO:0007113; MedGen: C0162635; Orphanet: 72; OMIM: 105830
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Scoparia dulcis isolate OSBAR 000093 maturase K (matK) gene, partial cds; chloro...
Scoparia dulcis isolate OSBAR 000093 maturase K (matK) gene, partial cds; chloroplastgi|1586081190|gb|MH551627.1|Nucleotide
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Scoparia dulcis SDB SdCYP148 mRNA for cytochrome P450, complete cds
Scoparia dulcis SDB SdCYP148 mRNA for cytochrome P450, complete cdsgi|2117900609|dbj|LC654702.1|Nucleotide
-
Stemodia hyptoides voucher Scatigna, A.V. 1201 (UEC) trnL-trnF intergenic spacer...
Stemodia hyptoides voucher Scatigna, A.V. 1201 (UEC) trnL-trnF intergenic spacer and tRNA-Phe (trnF) gene, partial sequence; chloroplastgi|2072438194|gb|MZ611498.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024