RGD:8692517 Rat Genome Database

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Variant: RGD:8692517 -  Homo sapiens

RGD ID: 8692517
RS ID: rs17850455
ClinVar ID: CV142486
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MILR1  POLG2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 62,476,451
GRCh38 17 64,480,334
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_013029.1:g.21734G>C
NC_000017.11:g.64480334C>G
NC_000017.10:g.62476451C>G
NP_009146.2:p.Gly416Ala
More...
02/28/2019 missense variant benign|likely benign|conflicting interpretations of pathogenicity AllHighlyPenetrant; Familial spastic paraparesis; none provided; PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 4

Variant Details
Variant Transcripts
Gene Symbol:MILR1
Accession:XM_024450708
Location:3UTRS;INTRON

Gene Symbol:MILR1
Accession:XM_047435791
Location:3UTRS;INTRON

Gene Symbol:POLG2
Accession:NM_007215
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 416
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSRVAVRACHKVCRCLLSGFGGRVDAGQPELLTERSSPKGGHVKSHAELEGNGEHPEAPGSGEGSEALLEICQRRHFLS
GSKQQLSRDSLLSGCHPGFGPLGVELRKNLAAEWWTSVVVFREQVFPVDALHHKPGPLLPGDSAFRLVSAETLREILQDK
ELSKEQLVAFLENVLKTSGKLRENLLHGALEHYVNCLDLVNKRLPYGLAQIGVCFHPVFDTKQIRNGVKSIGEKTEASLV
WFTPPRTSNQWLDFWLRHRLQWWRKFAMSPSNFSSSDCQDEEGRKGNKLYYNFPWGKELIETLWNLGDHELLHMYPGNVS
KLHGRDGRKNVVPCVLSVNGDLDRGMLAYLYDSFQLTENSFTRKKNLHRKVLKLHPCLAPIKVALDVGRGPTLELRQVCQ
GLFNELLENGISVWPGYLETMQSSLEQLYSKYDEMSILFTVLVTETTLENGLIHLRSRDTTMKEMMHISKLKDFLIKYIS
SAKNV*

Gene Symbol:POLG2
Accession:XR_007065259
Location:EXON;NON-CODING

Gene Symbol:MILR1
Accession:NM_001085423
Location:INTRON

Gene Symbol:MILR1
Accession:NM_001291316
Location:INTRON

Gene Symbol:MILR1
Accession:NM_001291317
Location:INTRON

Gene Symbol:MILR1
Accession:XM_024450707
Location:INTRON

Gene Symbol:MILR1
Accession:NM_001369493
Location:INTRON

Gene Symbol:POLG2
Accession:XM_047435222
Location:INTRON

Gene Symbol:POLG2
Accession:XM_047435223
Location:INTRON

Gene Symbol:POLG2
Accession:XM_047435221
Location:INTRON

Gene Symbol:POLG2
Accession:XM_047435224
Location:INTRON

Gene Symbol:MILR1
Accession:XM_047435790
Location:INTRON

Gene Symbol:MILR1
Accession:XM_047435789
Location:INTRON

Gene Symbol:MILR1
Accession:XM_047435792
Location:INTRON

Gene Symbol:MILR1
Accession:XM_047435793
Location:INTRON

Gene Symbol:MILR1
Accession:XR_002957990
Location:INTRON;NON-CODING

Gene Symbol:MILR1
Accession:XR_002957989
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:24033266   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000127569 CLINVAR
  RCV000755370 CLINVAR
  RCV001520227 CLINVAR
  RCV001847759 CLINVAR
dbSNP (RS) rs17850455 CLINVAR
MedGen C0037773 CLINVAR
  C1864668 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene MILR1 CLINVAR
  POLG2 CLINVAR
OMIM 604983 CLINVAR
  610131 CLINVAR
SNOMED CT 39912006 CLINVAR