RGD:11543906 Rat Genome Database

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Variant: RGD:11543906 -  Homo sapiens

RGD ID: 11543906
RS ID: rs146509360
ClinVar ID: CV250330
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TTC21B  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 166,764,313
GRCh38 2 165,907,803
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_030345.1:g.51036A>C
NC_000002.12:g.165907803T>G
NC_000002.11:g.166764313T>G
NM_024753.5:c.2462-19A>C
More... 		05/10/2016 intron variant benign AllHighlyPenetrant; Chondroectodermal dysplasia-like syndrome; Infantile thoracic dystrophy; Jeune syndrome; Jeune's syndrome; juvenile nephronophthisis; Nephronophthisis; none provided; Short-rib thoracic dysplasia; Thoracic pelvic phalangeal dystrophy
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:TTC21B
Accession:XM_011511872
Location:INTRON

Gene Symbol:TTC21B
Accession:XM_011511871
Location:INTRON

Gene Symbol:TTC21B
Accession:XM_047445870
Location:INTRON

Gene Symbol:TTC21B
Accession:XM_006712761
Location:INTRON

Gene Symbol:TTC21B
Accession:XM_017004967
Location:INTRON

Gene Symbol:TTC21B
Accession:NM_024753
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000243084 CLINVAR
  RCV001522969 CLINVAR
  RCV001812735 CLINVAR
dbSNP (RS) rs146509360 CLINVAR
MedGen C0265275 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene TTC21B CLINVAR
OMIM 612014 CLINVAR
SNOMED CT 75049004 CLINVAR