RGD:11657060 Rat Genome Database

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Variant: RGD:11657060 -  Homo sapiens

RGD ID: 11657060
RS ID: rs112170670
ClinVar ID: CV285827
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MPV17  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 27,535,363
GRCh38 2 27,312,496
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008075.1:g.15069C>T
NC_000002.12:g.27312496G>A
NC_000002.11:g.27535363G>A
NP_002428.1:p.Arg125Trp
More... 		06/05/2023 missense variant uncertain significance CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2EE; Hepatocerebral Mitochondrial DNA Depletion Syndrome; Mitochondrial DNA depletion syndrome type 6; Navajo neurohepatopathy; Navajo neuropathy; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MPV17
Accession:XM_017004151
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 109
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLKSHKRSLMGLGDIISQQLVERRGLQEHQRGRTLTMVSLGCGFVGPVVGGWYKVLDRFIPGTTKVDALKKMLLDQGGF
APCFLGCFLPLVGALNGLSAQDNWAKLQWDYPDALITNYYLWPAVQLANFYLVPLHYRLAVVQCVAVIWNSYLSWKAHRL
*

Gene Symbol:MPV17
Accession:XM_005264326
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 125
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALWRAYQRALAAHPWKVQVLTAGSLMGLGDIISQQLVERRGLQEHQRGRTLTMVSLGCGFVGPVVGGWYKVLDRFIPGT
TKVDALKKMLLDQGGFAPCFLGCFLPLVGALNGLSAQDNWAKLQWDYPDALITNYYLWPAVQLANFYLVPLHYRLAVVQC
VAVIWNSYLSWKAHRL*

Gene Symbol:MPV17
Accession:NM_002437
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 125
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALWRAYQRALAAHPWKVQVLTAGSLMGLGDIISQQLVERRGLQEHQRGRTLTMVSLGCGFVGPVVGGWYKVLDRFIPGT
TKVDALKKMLLDQGGFAPCFLGCFLPLVGALNGLSAQDNWAKLQWDYPDALITNYYLWPAVQLANFYLVPLHYRLAVVQC
VAVIWNSYLSWKAHRL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000338177 CLINVAR
  RCV000730532 CLINVAR
  RCV003227479 CLINVAR
  RCV003320359 CLINVAR
dbSNP (RS) rs112170670 CLINVAR
MedGen C1850406 CLINVAR
  C3661900 CLINVAR
  C4310690 CLINVAR
  C5193076 CLINVAR
NCBI Gene MPV17 CLINVAR
OMIM 137960 CLINVAR
  256810 CLINVAR
  617156 CLINVAR
  618400 CLINVAR