RGD:156317655 Rat Genome Database

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Variant: RGD:156317655 -  Homo sapiens

RGD ID: 156317655
ClinVar ID: CV2018110
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TTC21B  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 166,740,303
GRCh38 2 165,883,793
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_024753.5:c.3684+1G>A
NG_030345.1:g.75046G>A
NC_000002.12:g.165883793C>T
NC_000002.11:g.166740303C>T
 10/19/2022 splice donor variant likely pathogenic Chondroectodermal dysplasia-like syndrome; Infantile thoracic dystrophy; Jeune syndrome; Jeune's syndrome; juvenile nephronophthisis; Nephronophthisis; 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:NM_024753
Location:INTRON

Gene Symbol:TTC21B
Accession:XM_006712761
Location:INTRON

Gene Symbol:TTC21B
Accession:XM_011511871
Location:INTRON

Gene Symbol:TTC21B
Accession:XM_011511872
Location:INTRON

Gene Symbol:TTC21B
Accession:XM_017004967
Location:INTRON

Gene Symbol:TTC21B
Accession:XM_047445870
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:18327258   PMID:21068128   PMID:21258341   PMID:23559409   PMID:24876116   PMID:25492405   PMID:27491411   PMID:28492532   PMID:29068549  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002671995 CLINVAR
MedGen C0265275 CLINVAR
NCBI Gene TTC21B CLINVAR
OMIM 612014 CLINVAR
SNOMED CT 75049004 CLINVAR