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Reference SNP (refSNP) Cluster Report: rs267608493                 ** With Pathogenic allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:137/151
Map to Genome Build:108/Weight 1
Validation Status:byCluster
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/C/T (FWD)
Allele Origin:C:germline
T:de-novo;germline
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:With Pathogenic allele [ClinVar]
MAF/MinorAlleleCount:A=0.00001/1 (ExAC)
A=0.00009/1 (GO-ESP)
A=0.00002/2 (TOPMED)
HGVS Names
  • CM000685.2:g.18584331C>A
  • NC_000023.10:g.18602451C>A
  • NC_000023.10:g.18602451C>T
  • NC_000023.11:g.18584331C>A
  • NC_000023.11:g.18584331C>T
  • NG_008475.1:g.163727C>A
  • NG_008475.1:g.163727C>T
  • NM_001037343.1:c.532C>A
  • NM_001037343.1:c.532C>T
  • NM_001323289.1:c.532C>A
  • NM_001323289.1:c.532C>T
  • NM_003159.2:c.532C>A
  • NM_003159.2:c.532C>T
  • NP_001032420.1:p.Arg178=
  • NP_001032420.1:p.Arg178Trp
  • NP_001310218.1:p.Arg178=
  • NP_001310218.1:p.Arg178Trp
  • NP_003150.1:p.Arg178=
  • NP_003150.1:p.Arg178Trp
  • XP_005274641.1:p.Arg178=
  • XP_005274641.1:p.Arg178Trp
  • XP_005274642.1:p.Arg178=
  • XP_005274642.1:p.Arg178Trp
Links
SNP Details are organized in the following sections:
GeneView Map Submission Fasta Resource Diversity Validation

  Integrated Maps (Hint: click on 'Chr Pos' to see variant in the new NCBI variation viewer) back to top

  GeneView back to top

GeneView via direct blast against RefSeq sequences (used when no gene model is available): N/A


  Submitter records for this RefSNP Cluster back to top
The submission ss713644555 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs267608493 during BLAST analysis for the current build.


NCBI
Assay ID
Handle|Submitter IDValidation
Status
ss to rs
Orientation
/Strand
Alleles5' Near Seq 30 bp3' Near Seq 30 bpEntry
Date
Update
Date
Build
Added
Molecule
Type
Freq
Warning
Ancestral
Allele
Success
Rate
ss538296524CHWRETT|CDKL5: c.532C>Tfwd/BC/Ttacacagagtacgttgccaccagatggtatggtccccagaactcttacttgggtgagtta08/08/1208/08/12137Genomicunknown
ss713644555NHLBI-ESP|ESP6500SI-chrX-18602451fwd/TA/Ctacacagagtacgttgccaccagatggtatggtccccagaactcttacttgggtgagtta02/20/1302/20/13138Genomicunknown
ss1694468482EVA_EXAC|EXAC_0.3.X:g18602451c>afwd/A/Cagagtacgttgccaccagatggtatggtccccagaactcttacttgggtg03/04/1503/04/15144Genomicunknown
ss2745323344GNOMAD|exomes_rs267608493fwd/A/Cagagtacgttgccaccagatggtatggtccccagaactcttacttgggtg05/17/1705/17/17151Genomicunknown
ss3606383844TOPMED|TOPMed_freeze_5?chrX:18,584,331fwd/A/Cagagtacgttgccaccagatggtatggtccccagaactcttacttgggtg10/07/1710/07/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs267608493|allelePos=101|totalLen=201|taxid=9606|snpclass=1|alleles='A/C/T'|mol=Genomic|build=151
 AAGTTACAAC TTTGGACTTT GCTATCTTTC AGGTTTTGCT CGTAATCTGT CAGAAGGCAA
 TAATGCTAAT TACACAGAGT ACGTTGCCAC CAGATGGTAT
 H
 GGTCCCCAGA ACTCTTACTT GGGTGAGTTA CCGTCCCAAA ATAGAATGAC ATTTCCACAT
 CTGCTGATTC TATTGTCATT TGCTTTGAGT TCATCTATGG

  NCBI Resource Links back to top
Submitter-Referenced
dbSNP Blast Analysis
3D structure mapping
NP_001032420  NP_003150  

  Population Diversity (Alleles in RefSNP orientation) back to top

Sample AscertainmentGenotypesAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceHWPA
C
ss1694468482ExAc_Aggregated_Populations121412AF 0.000008240.99999177

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.000+/-0.0030000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterUNKNOWNUNKNOWNUNKNOWN

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