RGD:11629176 Rat Genome Database

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Variant: RGD:11629176 -  Homo sapiens

RGD ID: 11629176
RS ID: rs760721315
ClinVar ID: CV352391
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TCN2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 31,011,351
GRCh38 22 30,615,364
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_000355.4:c.644G>A
NP_001171655.1:p.Arg188Gln
LRG_116:g.13191G>A
NG_007263.1:g.13191G>A
More... 		09/07/2022 missense variant uncertain significance infancy <1 / 1 000 000 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_000355
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 215
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRHLGAFLFLLGVLGALTEMCEIPEMDSHLVEKLGQHLLPWMDRLSLEHLNPSIYVGLRLSSLQAGTKEDLYLHSLKLGY
QQCLLGSAFSEDDGDCQGKPSMGQLALYLLALRANCEFVRGHKGDRLVSQLKWFLEDEKRAIGHDHKGHPHTSYYQYGLG
ILALCLHQKRVHDSVVDKLLYAVEPFHQGHHSVDTAAMAGLAFTCLKRSNFNPGQRQRITMAIRTVREEILKAQTPEGHF
GNVYSTPLALQFLMTSPMRGAELGTACLKARVALLASLQDGAFQNALMISQLLPVLNHKTYIDLIFPDCLAPRVMLEPAA
ETIPQTQEIISVTLQVLSLLPPYRQSISVLAGSTVEDVLKKAHELGGFTYETQASLSGPYLTSVMGKAAGEREFWQLLRD
PNTPLLQGIADYRPKDGETIELRLVSW*

Gene Symbol:TCN2
Accession:NM_001184726
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 188
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRHLGAFLFLLGVLGALTEMCEIPEMDSHLVEKLGQHLLPWMDRLSLEHLNPSIYVGLRLSSLQAGTKEDLYLHSLKLGY
QQCLLGSAFSEDDGDCQGKPSMGQLALYLLALRANWHDHKGHPHTSYYQYGLGILALCLHQKRVHDSVVDKLLYAVEPFH
QGHHSVDTAAMAGLAFTCLKRSNFNPGQRQRITMAIRTVREEILKAQTPEGHFGNVYSTPLALQFLMTSPMRGAELGTAC
LKARVALLASLQDGAFQNALMISQLLPVLNHKTYIDLIFPDCLAPRVMLEPAAETIPQTQEIISVTLQVLSLLPPYRQSI
SVLAGSTVEDVLKKAHELGGFTYETQASLSGPYLTSVMGKAAGEREFWQLLRDPNTPLLQGIADYRPKDGETIELRLVSW
*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000317458 CLINVAR
dbSNP (RS) rs760721315 CLINVAR
MedGen C0342701 CLINVAR
NCBI Gene TCN2 CLINVAR
OMIM 275350 CLINVAR
  613441 CLINVAR
SNOMED CT 237934001 CLINVAR