RGD:13509182 Rat Genome Database

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Variant: RGD:13509182 -  Homo sapiens

RGD ID: 13509182
RS ID: rs1461973241
ClinVar ID: CV482226
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TCN2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 31,011,705
GRCh38 22 30,615,718
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000022.10:g.31011705C>T
NP_000346.2:p.Gln291Ter
NP_001171655.1:p.Gln264Ter
NG_007263.1:g.13545C>T
More... 		12/08/2017 nonsense pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:TCN2
Accession:NM_000355
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 291
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRHLGAFLFLLGVLGALTEMCEIPEMDSHLVEKLGQHLLPWMDRLSLEHLNPSIYVGLRLSSLQAGTKEDLYLHSLKLGY
QQCLLGSAFSEDDGDCQGKPSMGQLALYLLALRANCEFVRGHKGDRLVSQLKWFLEDEKRAIGHDHKGHPHTSYYQYGLG
ILALCLHQKRVHDSVVDKLLYAVEPFHQGHHSVDTAAMAGLAFTCLKRSNFNPGRRQRITMAIRTVREEILKAQTPEGHF
GNVYSTPLALQFLMTSPMRGAELGTACLKARVALLASLQDGAFQNALMIS*LLPVLNHKTYIDLIFPDCLAPRVMLEPAA
ETIPQTQEIISVTLQVLSLLPPYRQSISVLAGSTVEDVLKKAHELGGFTYETQASLSGPYLTSVMGKAAGEREFWQLLRD
PNTPLLQGIADYRPKDGETIELRLVSW*

Gene Symbol:TCN2
Accession:NM_001184726
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 264
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRHLGAFLFLLGVLGALTEMCEIPEMDSHLVEKLGQHLLPWMDRLSLEHLNPSIYVGLRLSSLQAGTKEDLYLHSLKLGY
QQCLLGSAFSEDDGDCQGKPSMGQLALYLLALRANWHDHKGHPHTSYYQYGLGILALCLHQKRVHDSVVDKLLYAVEPFH
QGHHSVDTAAMAGLAFTCLKRSNFNPGRRQRITMAIRTVREEILKAQTPEGHFGNVYSTPLALQFLMTSPMRGAELGTAC
LKARVALLASLQDGAFQNALMIS*LLPVLNHKTYIDLIFPDCLAPRVMLEPAAETIPQTQEIISVTLQVLSLLPPYRQSI
SVLAGSTVEDVLKKAHELGGFTYETQASLSGPYLTSVMGKAAGEREFWQLLRDPNTPLLQGIADYRPKDGETIELRLVSW
*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000579082 CLINVAR
dbSNP (RS) rs1461973241 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene TCN2 CLINVAR
OMIM 613441 CLINVAR