RGD:13622072 Rat Genome Database

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Variant: RGD:13622072 -  Homo sapiens

RGD ID: 13622072
RS ID: rs371071024
ClinVar ID: CV521289
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ZBTB24  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 109,797,428
GRCh38 6 109,476,225
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_014797.3:c.1154A>G
NP_055612.2:p.Lys385Arg
NC_000006.12:g.109476225T>C
LRG_326t1:c.1154A>G
More... 		10/10/2017 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ZBTB24
Accession:NM_014797
Location:EXON
Amino Acid Prediction: K to R (nonsynonymous)
Amino Acid Position: 385
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAETSPEPSGQLVVHSDAHSDTVLASFEDQRKKGFLCDITLIVENVHFRAHKALLAASSEYFSMMFAEEGEIGQSIYMLE
GMVADTFGILLEFIYTGYLHASEKSTEQILATAQFLKVYDLVKAYTDFQNNHSSPKPTTLNTAGAPVVVISNKKNDPPKR
KRGRPKKVNTLQEEKSELAAEEEIQLRVNNSVQNRQNFVVKGDSGVLNEQIAAKEKEESEPTCEPSREEEMPVEKDENYD
PKTEDGQASQSRYSKRRIWRSVKLKDYKLVGDQEDHGSAKRICGRRKRPGGPEARCKDCGKVFKYNHFLAIHQRSHTGER
PFKCNECGKGFAQKHSLQVHTRMHTGERPYTCTVCSKALTTKHSLLEHMSLHSGQKSFTCDQCGRYFSQNRQLKSHYRVH
TGHSLPECKDCHRKFMDVSQLKKHLRTHTGEKPFTCEICGKSFTAKSSLQTHIRIHRGEKPYSCGICGKSFSDSSAKRRH
CILHTGKKPFSCPECNLQFARLDNLKAHLKIHSKEKHASDASSISGSSNTEEVRNILQLQPYQLSTSGEQEIQLLVTDSV
HNINFMPGPSQGISIVTAESSQNMTADQAANLTLLTQQPEQLQNLILSAQQEQTEHIQSLNMIESQMGPSQTEPVHVITL
SKETLEHLHAHQEQTEELHLATSTSDPAQHLQLTQEPGPPPPTHHVPQPTPLGQEQS*

Gene Symbol:ZBTB24
Accession:NM_001164313
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000649281 CLINVAR
  RCV002531939 CLINVAR
dbSNP (RS) rs371071024 CLINVAR
MedGen C0950123 CLINVAR
  C3279748 CLINVAR
NCBI Gene ZBTB24 CLINVAR
OMIM 614064 CLINVAR
  614069 CLINVAR