RGD:8600094 Rat Genome Database

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Variant: RGD:8600094 -  Homo sapiens

RGD ID: 8600094
RS ID: rs121909723
ClinVar ID: CV31201
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MPV17  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 27,535,899
GRCh38 2 27,313,032
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
NG_008075.1:g.14533C>T
NC_000002.12:g.27313032G>A
NC_000002.11:g.27535899G>A
NP_002428.1:p.Arg50Trp
More... 		11/19/2018 missense|missense variant pathogenic childhood <1 / 1 000 000 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: 34
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLKSHKRSLMGLGDIISQQLVERRGLQEHQRGWTLTMVSLGCGFVGPVVGGWYKVLDRFIPGTTKVDALKKMLLDQGGF
APCFLGCFLPLVGALNGLSAQDNWAKLQRDYPDALITNYYLWPAVQLANFYLVPLHYRLAVVQCVAVIWNSYLSWKAHRL
*

Gene Symbol:MPV17
Accession:NM_002437
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 50
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALWRAYQRALAAHPWKVQVLTAGSLMGLGDIISQQLVERRGLQEHQRGWTLTMVSLGCGFVGPVVGGWYKVLDRFIPGT
TKVDALKKMLLDQGGFAPCFLGCFLPLVGALNGLSAQDNWAKLQRDYPDALITNYYLWPAVQLANFYLVPLHYRLAVVQC
VAVIWNSYLSWKAHRL*

Gene Symbol:MPV17
Accession:XM_005264326
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 50
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALWRAYQRALAAHPWKVQVLTAGSLMGLGDIISQQLVERRGLQEHQRGWTLTMVSLGCGFVGPVVGGWYKVLDRFIPGT
TKVDALKKMLLDQGGFAPCFLGCFLPLVGALNGLSAQDNWAKLQRDYPDALITNYYLWPAVQLANFYLVPLHYRLAVVQC
VAVIWNSYLSWKAHRL*
Variant Samples
Additional References at PubMed
PMID:16582910   PMID:16909392   PMID:17694548   PMID:25016221   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000017545 CLINVAR
  RCV000264441 CLINVAR
  RCV003227464 CLINVAR
  RCV003473105 CLINVAR
dbSNP (RS) rs121909723 CLINVAR
MedGen C1850406 CLINVAR
  C3661900 CLINVAR
  C4310690 CLINVAR
  C5193076 CLINVAR
NCBI Gene MPV17 CLINVAR
OMIM 137960 CLINVAR
  256810 CLINVAR
  617156 CLINVAR
  618400 CLINVAR
OMIM Allele 137960.0003 CLINVAR