RGD:13535630 Rat Genome Database

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Variant: RGD:13535630 -  Homo sapiens

RGD ID: 13535630
RS ID: rs1554658928
ClinVar ID: CV502949
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TPM2  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 35,685,343
GRCh38 9 35,685,346
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001301226.2:c.493-7C>A
NM_003289.3:c.493-7C>A
LRG_680t1:c.493-7C>A
LRG_680t2:c.493-7C>A
More...
02/16/2018 intron variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:TPM2
Accession:NM_213674
Location:INTRON

Gene Symbol:TPM2
Accession:NM_003289
Location:INTRON

Gene Symbol:TPM2
Accession:NM_001301226
Location:INTRON

Gene Symbol:TPM2
Accession:NM_001301227
Location:INTRON

Gene Symbol:TPM2
Accession:XM_017015088
Location:INTRON

Gene Symbol:TPM2
Accession:XM_047423827
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000602476 CLINVAR
dbSNP (RS) rs1554658928 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene TPM2 CLINVAR
OMIM 190990 CLINVAR