NM_133433.4(NIPBL):c.1660C>T (p.Gln554Ter) AND Cornelia de Lange syndrome 1
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Last evaluated:
- Jul 15, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001030046.6
Allele description [Variation Report for NM_133433.4(NIPBL):c.1660C>T (p.Gln554Ter)]
NM_133433.4(NIPBL):c.1660C>T (p.Gln554Ter)
Condition(s)
-
Homo sapiens WDFY3 antisense RNA 2 (WDFY3-AS2), transcript variant 6, long non-c...
Homo sapiens WDFY3 antisense RNA 2 (WDFY3-AS2), transcript variant 6, long non-coding RNAgi|1315370211|ref|NR_152775.1|Nucleotide
-
AGENCOURT_75533694 NICHD_XGC_thy Xenopus laevis cDNA clone IMAGE:8547082 5', mRN...
AGENCOURT_75533694 NICHD_XGC_thy Xenopus laevis cDNA clone IMAGE:8547082 5', mRNA sequencegi|93208582|gnl|dbEST|38825108|gb|E 66.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Jun 23, 2024