RGD:8565741 Rat Genome Database

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Variant: RGD:8565741 -  Homo sapiens

RGD ID: 8565741
RS ID: rs797044455
ClinVar ID: CV31697
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130067862  SCO2  TYMP  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 22 50,964,571
GRCh38 22 50,526,142
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000022.10:g.50964571C>G
c.1160-1G>C
NG_016235.1:g.5298G>C
NM_001113755.3:c.1160-1G>C
More... 		01/14/2016 5 prime utr variant pathogenic adolescent 1-9 / 1 000 000 Mitochondrial DNA depletion syndrome 1 (MNGIE type); Mitochondrial DNA Depletion Syndrome, MNGIE Form; Mitochondrial neurogastrointestinal encephalomyopathy syndrome; MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, TYMP-RELATED; MNGIE, TYMP-RELATED; POLIP SYNDROME; POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SCO2
Accession:NM_001169110
Location:5UTRS;EXON

Gene Symbol:SCO2
Accession:NM_001169109
Location:5UTRS;INTRON

Gene Symbol:TYMP
Accession:NM_001257989
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 392
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAALMTPGTGAPPAPGDFSGEGSQGLPDPSPEPKQLPELIRMKRDGGRLSEADIRGFVAAVVNGSAQGAQIGAMLMAIRL
RGMDLEETSVLTQALAQSGQQLEWPEAWRQQLVDKHSTGGVGDKVSLVLAPALAACGCKVPMISGRGLGHTGGTLDKLES
IPGFNVIQSPEQMQVLLDQAGCCIVGQSEQLVPADGILYAARDVTATVDSLPLITASILSKKLVEGLSALVVDVKFGGAA
VFPNQEQARELAKTLVGVGASLGLRVAAALTAMDKPLGRCVGHALEVEEALLCMDGAGPPDLRDLVTTLGGALLWLSGHA
GTQAQGAARVAAALDDGSALGRFERMLAAQGVDPGLARALCSGSPAERRQLLPRAREQEELLAPADAPLPAGTVELVRAL
PLALVLHELGAGRSRAGEPLRLGVGAELLVDVGQRLRRGTPWLRVHRDGPALSGPQSRALQEALVLSDRAPFAAPSPFAE
LVLPPQQ*

Gene Symbol:TYMP
Accession:NM_001113756
Location:INTRON

Gene Symbol:TYMP
Accession:NM_001257988
Location:INTRON

Gene Symbol:SCO2
Accession:NM_005138
Location:INTRON

Gene Symbol:TYMP
Accession:NM_001113755
Location:INTRON

Gene Symbol:SCO2
Accession:NM_001169111
Location:INTRON

Gene Symbol:TYMP
Accession:NM_001953
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9924029  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000018138 CLINVAR
dbSNP (RS) rs797044455 CLINVAR
MedGen C4551995 CLINVAR
NCBI Gene LOC130067862 CLINVAR
  SCO2 CLINVAR
  TYMP CLINVAR
OMIM 131222 CLINVAR
  603041 CLINVAR
  604272 CLINVAR
OMIM Allele 131222.0006 CLINVAR