RGD:13506323 Rat Genome Database

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Variant: RGD:13506323 -  Homo sapiens

RGD ID: 13506323
RS ID: rs1554149118
ClinVar ID: CV481129
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MTO1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 74,190,721
GRCh38 6 73,480,998
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001116698.1:p.Thr421Lys
NC_000006.11:g.74190721C>A
NG_032856.1:g.24268C>A
NC_000006.12:g.73480998C>A
More... 		08/01/2017 intron variant uncertain significance CARDIOMYOPATHY, INFANTILE HYPERTROPHIC MITOCHONDRIAL, AND LACTIC ACIDOSIS; Combined oxidative phosphorylation deficiency 10
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MTO1
Accession:NM_001123226
Location:EXON
Amino Acid Prediction: T to K (nonsynonymous)
Amino Acid Position: 421
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFYFRGCGRWVAVSFTKQQFPLARLSSDSAAPRTPHFDVIVIGGGHAGTEAATAAARCGSRTLLLTHRVDTIGQMSCNPS
FGGIGKGHLMREVDALDGLCSRICDQSGVHYKVLNRRKGPAVWGLRAQIDRKLYKQNMQKEILNTPLLTVQEGAVEDLIL
TEPEPEHTGKCRVSGVVLVDGSTVYAESVILTTGTFLRGMIVIGLETHPAGRLGDQPSIGLAQTLEKLGFVVGRLKTGTP
PRIAKESINFSILNKHIPDNPSIPFSFTNETVWIKPEDQLPCYLTHTNPRVDEIVLKNLHLNSHVKETTRGPRYCPSIES
KVLRFPNRLHQVWLEPEGMDSDLIYPQGLSMTLPAELQEKMITCIRGLEKAKVIQPGYGVQYDYLDPRQITPSLETHLVQ
RLFFAGQINGTTGYEEAAAQKECCSVARLECSDMISQLQAILLPQPSLVAGTAGMHHNTQGVIAGINASLRVSRKPPFVV
SRTEGYIGVLIDDLTTLGTSEPYRMFTSRVEFRLSLRPDNADSRLTLRGYKDAGCVSQQRYERACWMKSSLEEGISVLKS
IEFLSSKWKKLIPEASISTSRSLPVRALDVLKYEEVDMDSLAKAVPEPLKKYTKCRELAERLKIEATYESVLFHQLQEIK
GVQQDEALQLPKDLDYLTIRDVSLSHEVREKLHFSRPQTIGAASRIPGVTPAAIINLLRFVKTTQRRQSAMNESSKTDQY
LCDADRLQEREL*

Gene Symbol:MTO1
Accession:XM_047418606
Location:INTRON

Gene Symbol:MTO1
Accession:NM_133645
Location:INTRON

Gene Symbol:MTO1
Accession:NM_012123
Location:INTRON

Gene Symbol:MTO1
Accession:XM_047418605
Location:INTRON

Gene Symbol:MTO1
Accession:XM_047418607
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000578049 CLINVAR
dbSNP (RS) rs1554149118 CLINVAR
MedGen C4749921 CLINVAR
NCBI Gene MTO1 CLINVAR
OMIM 614667 CLINVAR
  614702 CLINVAR