NM_133433.4(NIPBL):c.6873dup (p.His2292fs) AND NIPBL-related disorder
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 3, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003942056.1
Allele description [Variation Report for NM_133433.4(NIPBL):c.6873dup (p.His2292fs)]
NM_133433.4(NIPBL):c.6873dup (p.His2292fs)
Condition(s)
- Name:
- NIPBL-related disorder
- Synonyms:
- NIPBL-related condition
- Identifiers:
-
MULTISPECIES: inositol monophosphatase family protein [Marinitoga]
MULTISPECIES: inositol monophosphatase family protein [Marinitoga]gi|504063338|ref|WP_014297332.1|Protein
-
Uncultured bacterium clone SIP13C_1E 16S ribosomal RNA gene, partial sequence
Uncultured bacterium clone SIP13C_1E 16S ribosomal RNA gene, partial sequencegi|568402067|gb|KF741383.1|Nucleotide
-
S-adenosyl-L-methionine-dependent methyltransferases superfamily protein [Arabid...
S-adenosyl-L-methionine-dependent methyltransferases superfamily protein [Arabidopsis thaliana]gi|1063725090|ref|NP_001329826.1|Protein
-
JGI_CABJ8458.rev NIH_XGC_tropSki1 Xenopus tropicalis cDNA clone IMAGE:7873469 3'...
JGI_CABJ8458.rev NIH_XGC_tropSki1 Xenopus tropicalis cDNA clone IMAGE:7873469 3', mRNA sequencegi|73821270|gnl|dbEST|31071700|gb|D 92.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 19, 2024