RGD:127297242 Rat Genome Database

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Variant: RGD:127297242 -  Homo sapiens

RGD ID: 127297242
RS ID: rs114775959
ClinVar ID: CV1155952
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EXTL3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 28,575,737
GRCh38 8 28,718,220
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001440.4:c.2148+13C>T
NC_000008.11:g.28718220C>T
NC_000008.10:g.28575737C>T
 10/19/2020 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:EXTL3
Accession:XM_047421518
Location:INTRON

Gene Symbol:EXTL3
Accession:NM_001440
Location:INTRON

Gene Symbol:EXTL3
Accession:XM_047421517
Location:INTRON

Gene Symbol:EXTL3
Accession:XM_047421516
Location:INTRON

Gene Symbol:EXTL3
Accession:XM_047421515
Location:INTRON

Gene Symbol:EXTL3
Accession:XM_024447094
Location:INTRON

Gene Symbol:EXTL3
Accession:XM_047421514
Location:INTRON

Gene Symbol:EXTL3
Accession:XM_011544440
Location:INTRON

Gene Symbol:EXTL3
Accession:XM_024447096
Location:INTRON

Gene Symbol:EXTL3
Accession:NR_073468
Location:INTRON;NON-CODING

Gene Symbol:EXTL3
Accession:NR_073469
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001512795 CLINVAR
dbSNP (RS) rs114775959 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene EXTL3 CLINVAR
OMIM 605744 CLINVAR