NM_020699.4(GATAD2B):c.1780T>C (p.Ter594Gln) AND Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 18, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001331125.1
Allele description [Variation Report for NM_020699.4(GATAD2B):c.1780T>C (p.Ter594Gln)]
NM_020699.4(GATAD2B):c.1780T>C (p.Ter594Gln)
Condition(s)
-
Uncultured bacterium clone P3Q101_73A10 16S ribosomal RNA gene, partial sequence
Uncultured bacterium clone P3Q101_73A10 16S ribosomal RNA gene, partial sequencegi|226447121|gb|FJ832469.1|Nucleotide
-
ABCF2 [Macaca nemestrina]
ABCF2 [Macaca nemestrina]Gene ID:105474914Gene
-
RFX8 [Pelodiscus sinensis]
RFX8 [Pelodiscus sinensis]Gene ID:102447287Gene
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See more...Assertion and evidence details
Last Updated: Aug 5, 2023