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NM_022458.3(LMBR1):c.423+4847T>G

Variation ID: Help
30497
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Apr 1, 2011
Number of submission(s):
1
Condition(s):
Polydactyly, preaxial II[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_022458.3(LMBR1):c.423+4847T>G

Allele ID:
39454
Variant type:
single nucleotide variant
Cytogenetic location:
7q36.3
Genomic location:
  • Chr7: 156791542 (on Assembly GRCh38)
  • Chr7: 156584236 (on Assembly GRCh37)
Other names:
  • 334T-G
HGVS:
  • NG_009240.1:g.106667T>G
  • NM_022458.3:c.423+4847T>G
  • NC_000007.14:g.156791542A>C (GRCh38)
  • NC_000007.13:g.156584236A>C (GRCh37)
Note:
NCBI staff reviewed the sequence information reported in PubMed 20569257 Fig. 1 to determine the location of this allele on the current reference sequence.
Links:
NCBI 1000 Genomes Browser:
rs606231231
Molecular consequence:
NM_022458.3:c.423+4847T>G: intron variant [Sequence Ontology SO:0001627]

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
(Apr 1, 2011)
no assertion criteria providedliterature onlygermlineOMIMSCV000044745.4
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 31, 2019

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