RGD:28876295 Rat Genome Database

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Variant: RGD:28876295 -  Homo sapiens

RGD ID: 28876295
RS ID: rs1706440222
ClinVar ID: CV858739
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TOMM70  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 100,084,415
GRCh38 3 100,365,571
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000003.11:g.100084415G>A
NM_014820.4:c.1820C>T
p.Thr607Ile
NP_055635.3:p.Thr607Ile
More... 		01/10/2020 missense variant uncertain significance

Variant Details
Variant Transcripts
Gene Symbol:TOMM70
Accession:NM_014820
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 607
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASKPVEAAVVAAAVPSSGSGVGGGGTAGPGTGGLPRWQLALAVGAPLLLGAGAIYLWSRQQRRREARGRGDASGLKRN
SERKTPEGRASPAPGSGHPEGPGAHLDMNSLDRAQAAKNKGNKYFKAGKYEQAIQCYTEAISLCPTEKNVDLSTFYQNRA
AAFEQLQKWKEVAQDCTKAVELNPKYVKALFRRAKAHEKLDNKKECLEDVTAVCILEGFQNQQSMLLADKVLKLLGKEKA
KEKYKNREPLMPSPQFIKSYFSSFTDDIISQPMLKGEKSDEDKDKEGEALEVKENSGYLKAKQYMEEENYDKIISECSKE
IDAEGKYMAEALLLRATFYLLIGNANAAKPDLDKVISLKEANVKLRANALIKRGSMYMQQQQPLLSTQDFNMAADIDPQN
ADVYHHRGQLKILLDQVEEAVADFDECIRLRPESALAQAQKCFALYRQAYTGNNSSQIQAAMKGFEEVIKKFPRCAEGYA
LYAQALTDQQQFGKADEMYDKCIDLEPDNATTYVHKGLLQLQWKQDLDRGLELISKAIEIDNKCDFAYETMGTIEVQRGN
MEKAIDMFNKAINLAKSEMEMAHLYSLCDAAHAQTEVAKKYGLKPPIL*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001090140 CLINVAR
dbSNP (RS) rs1706440222 CLINVAR
NCBI Gene TOMM70 CLINVAR
OMIM 606081 CLINVAR