RGD:156267564 Rat Genome Database

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Variant: RGD:156267564 -  Homo sapiens

RGD ID: 156267564
ClinVar ID: CV2296669
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TRIM28  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 59,059,885
GRCh38 19 58,548,518
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005762.3:c.1249T>G
NG_046945.1:g.9050T>G
NC_000019.10:g.58548518T>G
NC_000019.9:g.59059885T>G
More... 		07/26/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TRIM28
Accession:NM_005762
Location:EXON
Amino Acid Prediction: S to A (nonsynonymous)
Amino Acid Position: 417
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASAAAASAAAASAASGSPGPGEGSAGGEKRSTAPSAAASASASAAASSPAGGGAEALELLEHCGVCRERLRPEREPRL
LPCLHSACSACLGPAAPAAANSSGDGGAAGDGTVVDCPVCKQQCFSKDIVENYFMRDSGSKAATDAQDANQCCTSCEDNA
PATSYCVECSEPLCETCVEAHQRVKYTKDHTVRSTGPAKSRDGERTVYCNVHKHEPLVLFCESCDTLTCRDCQLNAHKDH
QYQFLEDAVRNQRKLLASLVKRLGDKHATLQKSTKEVRSSIRQVSDVQKRVQVDVKMAILQIMKELNKRGRVLVNDAQKV
TEGQQERLERQHWTMTKIQKHQEHILRFASWALESDNNTALLLSKKLIYFQLHRALKMIVDPVEPHGEMKFQWDLNAWTK
SAEAFGKIVAERPGTNATGPAPMAPPRAPGPLSKQGSGSSQPMEVQEGYGFGSGDDPYSSAEPHVSGVKRSRSGEGEVSG
LMRKVPRVSLERLDLDLTADSQPPVFKVFPGSTTEDYNLIVIERGAAAAATGQPGTAPAGTPGAPPLAGMAIVKEEETEA
AIGAPPTATEGPETKPVLMALAEGPGAEGPRLASPSGSTSSGLEVVAPEGTSAPGGGPGTLDDSATICRVCQKPGDLVMC
NQCEFCFHLDCHLPALQDVPGEEWSCSLCHVLPDLKEEDGSLSLDGADSTGVVAKLSPANQRKCERVLLALFCHEPCRPL
HQLATDSTFSLDQPGGTLDLTLIRARLQEKLSPPYSSPQEFAQDVGRMFKQFNKLTEDKADVQSIIGLQRFFETRMNEAF
GDTKFSAVLVEPPPMSLPGAGLSSQELSGGPGDGP*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002855814 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene TRIM28 CLINVAR
OMIM 601742 CLINVAR