RGD:9684005 Rat Genome Database

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Variant: RGD:9684005 -  Homo sapiens

RGD ID: 9684005
RS ID: rs12307716
ClinVar ID: CV168893
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TCTN1  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 111,066,562
GRCh38 12 110,628,757
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_030381.1:g.19731T>A
NC_000012.12:g.110628757T>A
NC_000012.11:g.111066562T>A
NM_001319681.2:c.-62-10T>A
More... 		02/28/2019 intron variant benign|likely benign|conflicting interpretations of pathogenicity antenatal 1-9 / 100 000 AllHighlyPenetrant; Cerebelloparenchymal disorder 4; CEREBELLOPARENCHYMAL DISORDER IV; Dysencephalia splachnocystica; DYSENCEPHALIA SPLANCHNOCYSTICA; Gruber syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Meckel-Gruber syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TCTN1
Accession:XM_047429544
Location:5UTRS;INTRON

Gene Symbol:TCTN1
Accession:XM_006719598
Location:5UTRS;INTRON

Gene Symbol:TCTN1
Accession:NM_001319681
Location:5UTRS;INTRON

Gene Symbol:TCTN1
Accession:XM_006719597
Location:5UTRS;INTRON

Gene Symbol:TCTN1
Accession:XM_006719600
Location:5UTRS;INTRON

Gene Symbol:TCTN1
Accession:XM_006719595
Location:5UTRS;INTRON

Gene Symbol:TCTN1
Accession:XM_011538733
Location:INTRON

Gene Symbol:TCTN1
Accession:NM_024549
Location:INTRON

Gene Symbol:TCTN1
Accession:NM_001173975
Location:INTRON

Gene Symbol:TCTN1
Accession:XM_006719594
Location:INTRON

Gene Symbol:TCTN1
Accession:XM_047429540
Location:INTRON

Gene Symbol:TCTN1
Accession:NM_001082538
Location:INTRON

Gene Symbol:TCTN1
Accession:XM_011538737
Location:INTRON

Gene Symbol:TCTN1
Accession:XM_047429543
Location:INTRON

Gene Symbol:TCTN1
Accession:NM_001319680
Location:INTRON

Gene Symbol:TCTN1
Accession:XM_017019964
Location:INTRON

Gene Symbol:TCTN1
Accession:XM_047429541
Location:INTRON

Gene Symbol:TCTN1
Accession:XM_047429536
Location:INTRON

Gene Symbol:TCTN1
Accession:XM_011538738
Location:INTRON

Gene Symbol:TCTN1
Accession:XM_047429537
Location:INTRON

Gene Symbol:TCTN1
Accession:NM_001082537
Location:INTRON

Gene Symbol:TCTN1
Accession:XM_005253935
Location:INTRON

Gene Symbol:TCTN1
Accession:NM_001173976
Location:INTRON

Gene Symbol:TCTN1
Accession:XM_011538734
Location:INTRON

Gene Symbol:TCTN1
Accession:NM_001319682
Location:INTRON

Gene Symbol:TCTN1
Accession:XM_005253934
Location:INTRON

Gene Symbol:TCTN1
Accession:XM_047429539
Location:INTRON

Gene Symbol:TCTN1
Accession:XM_047429542
Location:INTRON

Gene Symbol:TCTN1
Accession:XM_011538735
Location:INTRON

Gene Symbol:TCTN1
Accession:XM_047429538
Location:INTRON

Gene Symbol:TCTN1
Accession:NR_135088
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000147736 CLINVAR
  RCV000273873 CLINVAR
  RCV000471147 CLINVAR
dbSNP (RS) rs12307716 CLINVAR
MedGen C0431399 CLINVAR
  C3280031 CLINVAR
  CN169374 CLINVAR
NCBI Gene TCTN1 CLINVAR
OMIM 213300 CLINVAR
  249000 CLINVAR
  609863 CLINVAR
  614173 CLINVAR
SNOMED CT 253175003 CLINVAR