RGD:156074418 Rat Genome Database

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Variant: RGD:156074418 -  Homo sapiens

RGD ID: 156074418
ClinVar ID: CV2331657
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TRIM64  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 89,701,739
GRCh38 11 89,968,571
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001136486.2:c.68T>A
NC_000011.10:g.89968571T>A
NC_000011.9:g.89701739T>A
NM_001136486.1:c.68T>A
More... 		06/22/2021 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:TRIM64
Accession:NM_001136486
Location:EXON
Amino Acid Prediction: I to K (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSDDLQVFQNELICCICVNYFKDPVTIDCGHSFCRPCLCLCSEEGRAPMRCPSCRKISEKPNFNTNVVLKKLSSLARQT
RPQNINSSDNICVLHEETKELFCEADKRLLCGPCSESPEHMAHSHSPIGWAAEECREKLIKEMDYLWEINQETRNNLNQE
TRTFHSLKDYVSVRKRIITIQYQKMPIFLDEEEQRHLQALEREAEELFQQLQDSQVRMTQHLERMKDMYRELWETCHVPD
VELLQDVRNVSARTDLAQMQKPQPVNPELTSWCITGVLDMLNNFRVDSALSTEMIPCYISLSEDVRYVIFGDDHLSAPTD
PQGVDSFAVWGAQAFTSGKHYWEVDVTLSSNWILGVCQDSRTADANFVIDSDERFFLISSKRSNHYSLSTNSPPLIQYVQ
RPLGQVGVFLDYDNGSVSFFDVSKGSLIYGFPPSSFSSPLRPFFCFGCT*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004184287 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene TRIM64 CLINVAR