RGD:155925684 Rat Genome Database

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Variant: RGD:155925684 -  Homo sapiens

RGD ID: 155925684
ClinVar ID: CV2348475
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TOMM70  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 100,084,451
GRCh38 3 100,365,607
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_014820.5:c.1784C>G
NC_000003.12:g.100365607G>C
NC_000003.11:g.100084451G>C
NM_014820.3:c.1784C>G
More... 		10/18/2021 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TOMM70
Accession:NM_014820
Location:EXON
Amino Acid Prediction: T to R (nonsynonymous)
Amino Acid Position: 595
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASKPVEAAVVAAAVPSSGSGVGGGGTAGPGTGGLPRWQLALAVGAPLLLGAGAIYLWSRQQRRREARGRGDASGLKRN
SERKTPEGRASPAPGSGHPEGPGAHLDMNSLDRAQAAKNKGNKYFKAGKYEQAIQCYTEAISLCPTEKNVDLSTFYQNRA
AAFEQLQKWKEVAQDCTKAVELNPKYVKALFRRAKAHEKLDNKKECLEDVTAVCILEGFQNQQSMLLADKVLKLLGKEKA
KEKYKNREPLMPSPQFIKSYFSSFTDDIISQPMLKGEKSDEDKDKEGEALEVKENSGYLKAKQYMEEENYDKIISECSKE
IDAEGKYMAEALLLRATFYLLIGNANAAKPDLDKVISLKEANVKLRANALIKRGSMYMQQQQPLLSTQDFNMAADIDPQN
ADVYHHRGQLKILLDQVEEAVADFDECIRLRPESALAQAQKCFALYRQAYTGNNSSQIQAAMKGFEEVIKKFPRCAEGYA
LYAQALTDQQQFGKADEMYDKCIDLEPDNATTYVHKGLLQLQWKQDLDRGLELISKAIEIDNKCDFAYETMGTIEVQRGN
MEKAIDMFNKAINLAKSEMEMAHLYSLCDAAHAQREVAKKYGLKPPTL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002970009 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene TOMM70 CLINVAR
OMIM 606081 CLINVAR