NM_001112704.1(VAX1):c.454C>A (p.Arg152Ser)

Variation ID: Help
36954
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Feb 1, 2012
Number of submission(s):
1
Condition(s):
Microphthalmia, syndromic 11[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_001112704.1(VAX1):c.454C>A (p.Arg152Ser)

Allele ID:
45612
Variant type:
single nucleotide variant
Cytogenetic location:
10q25.3
Genomic location:
  • Chr10: 117134559 (on Assembly GRCh38)
  • Chr10: 118894070 (on Assembly GRCh37)
Protein change:
R152S
HGVS:
  • NG_012317.1:g.8743C>A
  • NM_001112704.1:c.454C>A
  • NM_199131.2:c.429+1913C>A
  • NC_000010.11:g.117134559G>T (GRCh38)
  • NP_001106175.1:p.Arg152Ser
  • NC_000010.10:g.118894070G>T (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs387907252
Molecular consequence:
  • NM_001112704.1:c.454C>A: missense variant SO:0001583
  • NM_199131.2:c.429+1913C>A: intron variant SO:0001627

Variant frequency in dbGaP Help

NM_001112704.1(VAX1):c.454C>A (p.Arg152Ser)

GRCh37 Chr10:118894070
Called variantsPotential variants
Sample countno data0 of 19280

Called variants are samples submitted to dbGaP that have the variant allele. Potential variants are SRA runs that display the allele in at least 30% of the reads covering the position, and have 10 or more passing reads covering the position.

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study name
(Last submitted)
Submission accession
Pathogenic
(Feb 1, 2012)
no assertion criteria providedliterature onlygermlineOMIM

(Aug 6, 2012)

SCV000053313.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription
OMIMgermlinenot providedMicrophthalmia, syndromic 11 (not provided)not providednot providedIn an Egyptian boy with bilateral severe microphthalmia and small optic nerves, bilateral cleft lip and palate, and agenesis of the corpus callosum (M…Full description

Last Updated: Dec 5, 2015