RGD:150508325 Rat Genome Database

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Variant: RGD:150508325 -  Homo sapiens

RGD ID: 150508325
RS ID: rs2306493
ClinVar ID: CV1284253
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TERF1  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 73,951,274
GRCh38 8 73,039,039
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_017489.3:c.1040-77T>G
NM_003218.4:c.980-77T>G
NG_029121.1:g.35178T>G
NC_000008.11:g.73039039T>G
More... 		06/14/2019 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:TERF1
Accession:NM_001413367
Location:INTRON

Gene Symbol:TERF1
Accession:NM_001413368
Location:INTRON

Gene Symbol:TERF1
Accession:NM_001413371
Location:INTRON

Gene Symbol:TERF1
Accession:NM_001413369
Location:INTRON

Gene Symbol:TERF1
Accession:NM_001413364
Location:INTRON

Gene Symbol:TERF1
Accession:NM_017489
Location:INTRON

Gene Symbol:TERF1
Accession:NM_001410928
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TERF1
Accession:NM_001413373
Location:INTRON

Gene Symbol:TERF1
Accession:NM_001413370
Location:INTRON

Gene Symbol:TERF1
Accession:NM_001413365
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TERF1
Accession:NM_001413372
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TERF1
Accession:NM_003218
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TERF1
Accession:NM_001413366
Location:INTRON

Gene Symbol:TERF1
Accession:NM_001413374
Location:INTRON

Gene Symbol:TERF1
Accession:NR_182141
Location:INTRON;NON-CODING

Gene Symbol:TERF1
Accession:NR_182138
Location:INTRON;NON-CODING

Gene Symbol:TERF1
Accession:NR_182139
Location:INTRON;NON-CODING

Gene Symbol:TERF1
Accession:NR_182140
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001720360 CLINVAR
dbSNP (RS) rs2306493 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TERF1 CLINVAR
OMIM 600951 CLINVAR