RGD:13815961 Rat Genome Database

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Variant: RGD:13815961 -  Homo sapiens

RGD ID: 13815961
RS ID: rs1486146333
ClinVar ID: CV563259
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TPM2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 35,689,153
GRCh38 9 35,689,156
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003289.3:c.230A>G
LRG_680t1:c.230A>G
NM_213674.1:c.230A>G
LRG_680:g.5902A>G
More... 		05/29/2019 missense variant likely benign|uncertain significance ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TPM2
Accession:NM_003289
Location:EXON
Amino Acid Prediction: K to R (nonsynonymous)
Amino Acid Position: 77
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENAIDRAEQAEADKKQAEDRCKQLEEEQQALQKKLKGTEDEVEKYSESVKEAQEKLEQAEKRATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIENRAMKDEEKMELQEMQLKEAKHIAEDSDR
KYEEVARKLVILEGELERSEERAEVAESKCGDLEEELKIVTNNLKSLEAQADKYSTKEDKYEEEIKLLEEKLKEAETRAE
FAERSVAKLEKTIDDLEDEVYAQKMKYKAISEELDNALNDITSL*

Gene Symbol:TPM2
Accession:NM_001301226
Location:EXON
Amino Acid Prediction: K to R (nonsynonymous)
Amino Acid Position: 77
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENAIDRAEQAEADKKQAEDRCKQLEEEQQALQKKLKGTEDEVEKYSESVKEAQEKLEQAEKRATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIENRAMKDEEKMELQEMQLKEAKHIAEDSDR
KYEEVARKLVILEGELERSEERAEVAESKCGDLEEELKIVTNNLKSLEAQADKYSTKEDKYEEEIKLLEEKLKEAETRAE
FAERSVAKLEKTIDDLEETLASAKEENVEIHQTLDQTLLELNNL*

Gene Symbol:TPM2
Accession:NM_001301227
Location:EXON
Amino Acid Prediction: K to R (nonsynonymous)
Amino Acid Position: 77
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENAIDRAEQAEADKKQAEDRCKQLEEEQQALQKKLKGTEDEVEKYSESVKEAQEKLEQAEKRATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIENRAMKDEEKMELQEMQLKEAKHIAEDSDR
KYEEVARKLVILEGELERSEERAEVAESRARQLEEELRTMDQALKSLMASEEEYSTKEDKYEEEIKLLEEKLKEAETRAE
FAERSVAKLEKTIDDLEDEVYAQKMKYKAISEELDNALNDITSL*

Gene Symbol:TPM2
Accession:XM_017015088
Location:EXON
Amino Acid Prediction: K to R (nonsynonymous)
Amino Acid Position: 77
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENAIDRAEQAEADKKQAEDRCKQLEEEQQALQKKLKGTEDEVEKYSESVKEAQEKLEQAEKRATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIENRAMKDEEKMELQEMQLKEAKHIAEDSDR
KYEEVARKLVILEGELERSEERAEVAESRARQLEEELRTMDQALKSLMASEEEVVTPLNLSGQWRLLSAHLPSVSAPQAA
LSQLLGIRKGLGLLSPACCHSHNFALLFSPPPVPCCAISTVWLRCALTPCPPRHTPPAVNVGT*

Gene Symbol:TPM2
Accession:XM_047423827
Location:EXON
Amino Acid Prediction: K to R (nonsynonymous)
Amino Acid Position: 77
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENAIDRAEQAEADKKQAEDRCKQLEEEQQALQKKLKGTEDEVEKYSESVKEAQEKLEQAEKRATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIENRAMKDEEKMELQEMQLKEAKHIAEDSDR
KYEEVARKLVILEGELERSEERAEVAESRARQLEEELRTMDQALKSLMASEEE*

Gene Symbol:TPM2
Accession:NM_213674
Location:EXON
Amino Acid Prediction: K to R (nonsynonymous)
Amino Acid Position: 77
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENAIDRAEQAEADKKQAEDRCKQLEEEQQALQKKLKGTEDEVEKYSESVKEAQEKLEQAEKRATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIENRAMKDEEKMELQEMQLKEAKHIAEDSDR
KYEEVARKLVILEGELERSEERAEVAESRARQLEEELRTMDQALKSLMASEEEYSTKEDKYEEEIKLLEEKLKEAETRAE
FAERSVAKLEKTIDDLEETLASAKEENVEIHQTLDQTLLELNNL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000691994 CLINVAR
  RCV000828074 CLINVAR
  RCV002544930 CLINVAR
dbSNP (RS) rs1486146333 CLINVAR
MedGen C0220662 CLINVAR
  C0950123 CLINVAR
  C3661900 CLINVAR
NCBI Gene TPM2 CLINVAR
OMIM 108120 CLINVAR
  190990 CLINVAR