RGD:13533965 Rat Genome Database

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Variant: RGD:13533965 -  Homo sapiens

RGD ID: 13533965
ClinVar ID: CV512798
Genic Status: GENIC
Type: insertion (SO:0000667) 
Associated Genes: TGFB2  
Reference Nucleotide: -
Variant Nucleotide: TTGTTG
Position
Assembly Chr Position
GRCh37 1 218,578,688
GRCh38 1 218,405,346
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001135599.3:c.594+14_594+15insTTGTTG
NG_027721.2:g.65013_65014insTTGTTG
NC_000001.11:g.218405346_218405347insTTGTTG
NC_000001.10:g.218578688_218578689insTTGTTG
More... 		10/03/2016 intron variant benign ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS

Variant Details
Variant Transcripts
Gene Symbol:TGFB2
Accession:NM_003238
Location:INTRON

Gene Symbol:TGFB2
Accession:NM_001135599
Location:INTRON

Gene Symbol:TGFB2
Accession:NR_138149
Location:INTRON;NON-CODING

Gene Symbol:TGFB2
Accession:NR_138148
Location:INTRON;NON-CODING

Variant Samples