NM_030653.4(DDX11):c.2537-1G>A AND Warsaw breakage syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 25, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001330070.1
Allele description [Variation Report for NM_030653.4(DDX11):c.2537-1G>A]
NM_030653.4(DDX11):c.2537-1G>A
Condition(s)
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CBWN3100.b1 NICHD_XGC_tropTe1 Xenopus tropicalis cDNA clone IMAGE:8855265 5', mR...
CBWN3100.b1 NICHD_XGC_tropTe1 Xenopus tropicalis cDNA clone IMAGE:8855265 5', mRNA sequencegi|133782774|gnl|dbEST|45212380|gb| 420.1|Nucleotide
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Nprl2 NPR2-like, GATOR1 complex subunit [Rattus norvegicus]
Nprl2 NPR2-like, GATOR1 complex subunit [Rattus norvegicus]Gene ID:363138Gene
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See more...Assertion and evidence details
Last Updated: Jun 10, 2023