RGD:10411617 Rat Genome Database

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Variant: RGD:10411617 -  Homo sapiens

RGD ID: 10411617
RS ID: rs144148008
ClinVar ID: CV211838
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127887611  MILR1  POLG2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 62,492,906
GRCh38 17 64,496,788
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.5279G>A
NC_000017.11:g.64496788C>T
NC_000017.10:g.62492906C>T
NP_009146.2:p.Gly61Arg
More...
10/07/2019 missense variant benign|likely benign|uncertain significance none provided; PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 4
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:POLG2
Accession:NM_007215
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 61
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSRVAVRACHKVCRCLLSGFGGRVDAGQPELLTERSSPKGGHVKSHAELEGNGEHPEAPRSGEGSEALLEICQRRHFLS
GSKQQLSRDSLLSGCHPGFGPLGVELRKNLAAEWWTSVVVFREQVFPVDALHHKPGPLLPGDSAFRLVSAETLREILQDK
ELSKEQLVAFLENVLKTSGKLRENLLHGALEHYVNCLDLVNKRLPYGLAQIGVCFHPVFDTKQIRNGVKSIGEKTEASLV
WFTPPRTSNQWLDFWLRHRLQWWRKFAMSPSNFSSSDCQDEEGRKGNKLYYNFPWGKELIETLWNLGDHELLHMYPGNVS
KLHGRDGRKNVVPCVLSVNGDLDRGMLAYLYDSFQLTENSFTRKKNLHRKVLKLHPCLAPIKVALDVGRGPTLELRQVCQ
GLFNELLENGISVWPGYLETMQSSLEQLYSKYDEMSILFTVLVTETTLENGLIHLRSRDTTMKEMMHISKLKDFLIKYIS
SAKNV*

Gene Symbol:POLG2
Accession:XM_047435222
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 61
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSRVAVRACHKVCRCLLSGFGGRVDAGQPELLTERSSPKGGHVKSHAELEGNGEHPEAPRSGEGSEALLEICQRRHFLS
GSKQQLSRDSLLSGCHPGFGPLGVELRKNLAAEWWTSVVVFREQVFPVDALHHKPGPLLPGDSAFRLVSAETLREILQDK
ELSKEQLVAFLENVLKTSGKLRENLLHGALEHYVNCLDLVNKRLPYGLAQIGVCFHPVFDTKQIRNGVKSIGEKTEASLV
WFTPPRTSNQWLDFWLRHRLQWWRKFAMSPSNFSSSDCQDEEGRKGNKLYYNFPWGKELIETLWNLGDHELLHMYPGNVS
KLHGRDGRKNVVPCVLSVNGDLDRGMLAYLYDSFQLTENSFTRKKNLHRKVLKLHPCLAPIKVALDVGRGPTLELRQFWL
LKLLWRMD*

Gene Symbol:POLG2
Accession:XM_047435223
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 61
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSRVAVRACHKVCRCLLSGFGGRVDAGQPELLTERSSPKGGHVKSHAELEGNGEHPEAPRSGEGSEALLEICQRRHFLS
GSKQQLSRDSLLSGCHPGFGPLGVELRKNLAAEWWTSVVVFREQVFPVDALHHKPGPLLPGDSAFRLVSAETLREILQDK
ELSKEQLVAFLENVLKTSGKLRENLLHGALEHYVNCLDLVNKRLPYGLAQIGVCFHPVFDTKQIRNGVKSIGEKTEASLV
WFTPPRTSNQWLDFWLRHRLQWWRKFAMSPSNFSSSDCQDEEGRKGNKLYYNFPWGKELIETLWNLGDHELLHMYPGNVS
KLHGRDGRKNVVPCVLSVNGDLDRGMLAYLYDSFQLTENSFTRKKNLHRKVLKLHPCLAPIKVALDVGRGPTLELRQV*

Gene Symbol:POLG2
Accession:XM_047435221
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 61
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSRVAVRACHKVCRCLLSGFGGRVDAGQPELLTERSSPKGGHVKSHAELEGNGEHPEAPRSGEGSEALLEICQRRHFLS
GSKQQLSRDSLLSGCHPGFGPLGVELRKNLAAEWWTSVVVFREQVFPVDALHHKPGPLLPGDSAFRLVSAETLREILQDK
ELSKEQLVAFLENVLKTSGKLRENLLHGALEHYVNCLDLVNKRLPYGLAQIGVCFHPVFDTKQIRNGVKSIGEKTEASLV
WFTPPRTSNQWLDFWLRHRLQWWRKFAMSPSNFSSSDCQDEEGRKGNKLYYNFPWGKELIETLWNLGDHELLHMYPGNVS
KLHGRDGRKNVVPCVLSVNGDLDRGMLAYLYDSFQLTENSFTRKKNLHRKVLKLHPCLAPIKVALDVGRGPTLELRQLFR
RLRHKNHLNLGGGGCSEPRSQHCTPAWVTEQDPASEKKKKKKKALIK*

Gene Symbol:POLG2
Accession:XM_047435224
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 61
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSRVAVRACHKVCRCLLSGFGGRVDAGQPELLTERSSPKGGHVKSHAELEGNGEHPEAPRSGEGSEALLEICQRRHFLS
GSKQQLSRDSLLSGCHPGFGPLGVELRKNLAAEWWTSVVVFREQVFPVDALHHKPGPLLPGDSAFRLVSAETLREILQDK
ELSKEQLVAFLENVLKTSGKLRENLLHGALEHYVNCLDLVNKRLPYGLAQIGVCFHPVFDTKQIRNGVKSIGEKTEASLV
WFTPPRTSNQWLDFWLRHRLQWWRKFAMSPSNFSSSDCQDEEGRKGNKLYYNFPWGKELIETLWNLGDHELLHMYPGNVS
KLHMQRHSPT*

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

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:MILR1
Accession:XM_047435791
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_002957989
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001092729 CLINVAR
  RCV001128514 CLINVAR
dbSNP (RS) rs144148008 CLINVAR
MedGen C1864668 CLINVAR
  C3661900 CLINVAR
NCBI Gene MILR1 CLINVAR
  POLG2 CLINVAR
OMIM 604983 CLINVAR
  610131 CLINVAR