RGD:9589302 Rat Genome Database

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Variant: RGD:9589302 -  Homo sapiens

RGD ID: 9589302
RS ID: rs121908743
ClinVar ID: CV166125
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMEM70  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 74,893,567
GRCh38 8 73,981,332
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016618.1:g.10191G>A
NC_000008.11:g.73981332G>A
NC_000008.10:g.74893567G>A
NP_060336.3:p.Gly165Asp
More... 		06/08/2022 3 prime utr variant|non-coding transcript variant uncertain significance|not provided ENCEPHALOCARDIOMYOPATHY, MITOCHONDRIAL, NEONATAL, DUE TO ATP SYNTHASE DEFICIENCY; MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, TMEM70 TYPE; none provided; Nuclear-Encoded ATPase Deficiency, TMEM70-Related; Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TMEM70
Accession:NM_001040613
Location:3UTRS;EXON

Gene Symbol:TMEM70
Accession:NM_017866
Location:EXON
Amino Acid Prediction: G to D (nonsynonymous)
Amino Acid Position: 165
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLFLALGSPWAVELPLCGRRTALCAAAALRGPRASVSRASSSSGPSGPVAGWSTGPSGAARLLRRPGRAQIPVYWEGYVR
FLNTPSDKSEDGRLIYTGNMARAVFGVKCFSYSTSLIGLTFLPYIFTQNNAISESVPLPIQIIFYGIMGSFTVITPVLLH
FITKDYVIRLYHEATTDTYKAITYNAMLAETSTVFHQNDVKIPDAKHVFTTFYAKTKSLLVNPVLFPNREDYIHLMGYDK
EEFILYMEETSEEKRHKDDK*

Gene Symbol:TMEM70
Accession:NR_033334
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:20728387   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000144429 CLINVAR
  RCV002512559 CLINVAR
dbSNP (RS) rs121908743 CLINVAR
MedGen C3279699 CLINVAR
  C3661900 CLINVAR
NCBI Gene TMEM70 CLINVAR
OMIM 612418 CLINVAR
  614052 CLINVAR