NM_138572.3(TAF8):c.806_809del (p.Asn269fs) AND Neurodevelopmental disorder
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002246760.1
Allele description [Variation Report for NM_138572.3(TAF8):c.806_809del (p.Asn269fs)]
NM_138572.3(TAF8):c.806_809del (p.Asn269fs)
Condition(s)
- Name:
- Neurodevelopmental disorder
- Identifiers:
- MONDO: MONDO:0700092; MeSH: D065886; MedGen: C1535926
-
MAG: hypothetical protein DRJ65_01295 [Acidobacteriota bacterium]
MAG: hypothetical protein DRJ65_01295 [Acidobacteriota bacterium]gi|1490892904|gb|RLE27917.1||gnl|WG F|DRJ65_01295Protein
-
28S rRNA (cytosine-C(5))-methyltransferase isoform X1 [Mus musculus]
28S rRNA (cytosine-C(5))-methyltransferase isoform X1 [Mus musculus]gi|755514243|ref|XP_011239152.1|Protein
-
RecName: Full=DNA (cytosine-5)-methyltransferase 3A; Short=Dnmt3a; AltName: Full...
RecName: Full=DNA (cytosine-5)-methyltransferase 3A; Short=Dnmt3a; AltName: Full=Cysteine methyltransferase DNMT3A; AltName: Full=DNA methyltransferase MmuIIIA; Short=DNA MTase MmuIIIA; Short=M.MmuIIIAgi|17374900|sp|O88508.2|DNM3A_MOUSEProtein
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023