RGD:152126229 Rat Genome Database

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Variant: RGD:152126229 -  Homo sapiens

RGD ID: 152126229
RS ID: rs1685082857
ClinVar ID: CV1544707
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TTC21B  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 166,744,990
GRCh38 2 165,888,480
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.3264-6A>G
NG_030345.1:g.70359A>G
NC_000002.12:g.165888480T>C
NC_000002.11:g.166744990T>C
 04/16/2021 intron variant likely benign 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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002154912 CLINVAR
dbSNP (RS) rs1685082857 CLINVAR
MedGen C0265275 CLINVAR
NCBI Gene TTC21B CLINVAR
OMIM 612014 CLINVAR
SNOMED CT 75049004 CLINVAR