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NM_015330.4(SPECC1L):c.1244A>C (p.Gln415Pro)

Variation ID: Help
31101
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Jul 15, 2011
Number of submission(s):
1
Condition(s):
Oculomaxillofacial dysostosis[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_015330.4(SPECC1L):c.1244A>C (p.Gln415Pro)

Allele ID:
40058
Variant type:
single nucleotide variant
Cytogenetic location:
22q11.2
Genomic location:
  • Chr22: 24322224 (on Assembly GRCh38)
  • Chr22: 24718192 (on Assembly GRCh37)
Protein change:
Q415P
HGVS:
  • NG_031915.2:g.56403A>C
  • NM_015330.4:c.1244A>C
  • NP_056145.4:p.Gln415Pro
  • NC_000022.11:g.24322224A>C (GRCh38)
  • NC_000022.10:g.24718192A>C (GRCh37)
  • NP_056145.3:p.Gln415Pro
Links:
NCBI 1000 Genomes Browser:
rs387907108
Molecular consequence:
NM_015330.4:c.1244A>C: missense variant [Sequence Ontology SO:0001583]

2 Affected genes

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
(Jul 15, 2011)
no assertion criteria providedliterature onlygermlineOMIMSCV000045388.3
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Sep 10, 2017