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NM_015384.4(NIPBL):c.3737C>G (p.Ala1246Gly)

Variation ID: Help
2147
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Oct 1, 2004
Number of submission(s):
1
Condition(s):
Cornelia de Lange syndrome 1[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_015384.4(NIPBL):c.3737C>G (p.Ala1246Gly)

Allele ID:
17186
Variant type:
single nucleotide variant
Cytogenetic location:
5p13.2
Genomic location:
  • Chr5: 37002734 (on Assembly GRCh38)
  • Chr5: 37002836 (on Assembly GRCh37)
Protein change:
A1246G
HGVS:
  • NG_006987.1:g.130852C>G
  • NM_015384.4:c.3737C>G
  • NM_133433.3:c.3737C>G
  • NP_056199.2:p.Ala1246Gly
  • NP_597677.2:p.Ala1246Gly
  • NC_000005.10:g.37002734C>G (GRCh38)
  • NC_000005.9:g.37002836C>G (GRCh37)
  • Q6KC79:p.Ala1246Gly
Links:
NCBI 1000 Genomes Browser:
rs121918268
Molecular consequence:
NM_015384.4:c.3737C>G: missense variant [Sequence Ontology SO:0001583]

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Oct 1, 2004)
no assertion criteria providedliterature onlygermlineOMIMSCV000022387.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 30, 2018