RGD:150472866 Rat Genome Database

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Variant: RGD:150472866 -  Homo sapiens

RGD ID: 150472866
RS ID: rs12708898
ClinVar ID: CV1259369
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TERF2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 69,390,642
GRCh38 16 69,356,739
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005652.5:c.*159C>T
NC_000016.10:g.69356739G>A
NC_000016.9:g.69390642G>A
 06/14/2019 3 prime utr variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:TERF2
Accession:XM_005256121
Location:3UTRS;EXON

Gene Symbol:TERF2
Accession:XM_005256122
Location:3UTRS;EXON

Gene Symbol:TERF2
Accession:NM_005652
Location:3UTRS;EXON

Gene Symbol:TERF2
Accession:XM_005256124
Location:3UTRS;EXON

Gene Symbol:TERF2
Accession:XM_005256123
Location:3UTRS;EXON

Gene Symbol:TERF2
Accession:XM_047434552
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001684615 CLINVAR
dbSNP (RS) rs12708898 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TERF2 CLINVAR
OMIM 602027 CLINVAR