RGD:13814827 Rat Genome Database

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Variant: RGD:13814827 -  Homo sapiens

RGD ID: 13814827
RS ID: rs147738100
ClinVar ID: CV573353
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TCN2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 31,011,444
GRCh38 22 30,615,457
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001184726.2:c.656C>T
LRG_116:g.13284C>T
NG_007263.1:g.13284C>T
NC_000022.11:g.30615457C>T
More... 		07/05/2018 missense variant uncertain significance TC II DEFICIENCY; TCN2 DEFICIENCY; Transcolabamin II deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TCN2
Accession:NM_001184726
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 219
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRHLGAFLFLLGVLGALTEMCEIPEMDSHLVEKLGQHLLPWMDRLSLEHLNPSIYVGLRLSSLQAGTKEDLYLHSLKLGY
QQCLLGSAFSEDDGDCQGKPSMGQLALYLLALRANWHDHKGHPHTSYYQYGLGILALCLHQKRVHDSVVDKLLYAVEPFH
QGHHSVDTAAMAGLAFTCLKRSNFNPGRRQRITMAIRTVREEILKAQTPEGHFGNVYSIPLALQFLMTSPMRGAELGTAC
LKARVALLASLQDGAFQNALMISQLLPVLNHKTYIDLIFPDCLAPRVMLEPAAETIPQTQEIISVTLQVLSLLPPYRQSI
SVLAGSTVEDVLKKAHELGGFTYETQASLSGPYLTSVMGKAAGEREFWQLLRDPNTPLLQGIADYRPKDGETIELRLVSW
*

Gene Symbol:TCN2
Accession:NM_000355
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 246
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRHLGAFLFLLGVLGALTEMCEIPEMDSHLVEKLGQHLLPWMDRLSLEHLNPSIYVGLRLSSLQAGTKEDLYLHSLKLGY
QQCLLGSAFSEDDGDCQGKPSMGQLALYLLALRANCEFVRGHKGDRLVSQLKWFLEDEKRAIGHDHKGHPHTSYYQYGLG
ILALCLHQKRVHDSVVDKLLYAVEPFHQGHHSVDTAAMAGLAFTCLKRSNFNPGRRQRITMAIRTVREEILKAQTPEGHF
GNVYSIPLALQFLMTSPMRGAELGTACLKARVALLASLQDGAFQNALMISQLLPVLNHKTYIDLIFPDCLAPRVMLEPAA
ETIPQTQEIISVTLQVLSLLPPYRQSISVLAGSTVEDVLKKAHELGGFTYETQASLSGPYLTSVMGKAAGEREFWQLLRD
PNTPLLQGIADYRPKDGETIELRLVSW*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000691150 CLINVAR
dbSNP (RS) rs147738100 CLINVAR
MedGen C0342701 CLINVAR
NCBI Gene TCN2 CLINVAR
OMIM 275350 CLINVAR
  613441 CLINVAR
SNOMED CT 237934001 CLINVAR