RGD:12849957 Rat Genome Database

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Variant: RGD:12849957 -  Homo sapiens

RGD ID: 12849957
RS ID: rs375401970
ClinVar ID: CV366592
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MPV17  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 27,535,635
GRCh38 2 27,312,768
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.14797C>G
NC_000002.12:g.27312768G>C
NC_000002.11:g.27535635G>C
NP_002428.1:p.Pro64Arg
More... 		04/22/2022 missense variant pathogenic|likely pathogenic|not provided CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2EE; Hepatocerebral Mitochondrial DNA Depletion Syndrome; mitochondrial DNA depletion; Mitochondrial DNA depletion syndrome type 6; Navajo neurohepatopathy; Navajo neuropathy; none provided

Variant Details
Variant Transcripts
Gene Symbol:MPV17
Accession:NM_002437
Location:EXON
Amino Acid Prediction: P to R (nonsynonymous)
Amino Acid Position: 64
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALWRAYQRALAAHPWKVQVLTAGSLMGLGDIISQQLVERRGLQEHQRGRTLTMVSLGCGFVGRVVGGWYKVLDRFIPGT
TKVDALKKMLLDQGGFAPCFLGCFLPLVGALNGLSAQDNWAKLQRDYPDALITNYYLWPAVQLANFYLVPLHYRLAVVQC
VAVIWNSYLSWKAHRL*

Gene Symbol:MPV17
Accession:XM_017004151
Location:EXON
Amino Acid Prediction: P to R (nonsynonymous)
Amino Acid Position: 48
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLKSHKRSLMGLGDIISQQLVERRGLQEHQRGRTLTMVSLGCGFVGRVVGGWYKVLDRFIPGTTKVDALKKMLLDQGGF
APCFLGCFLPLVGALNGLSAQDNWAKLQRDYPDALITNYYLWPAVQLANFYLVPLHYRLAVVQCVAVIWNSYLSWKAHRL
*

Gene Symbol:MPV17
Accession:XM_005264326
Location:EXON
Amino Acid Prediction: P to R (nonsynonymous)
Amino Acid Position: 64
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALWRAYQRALAAHPWKVQVLTAGSLMGLGDIISQQLVERRGLQEHQRGRTLTMVSLGCGFVGRVVGGWYKVLDRFIPGT
TKVDALKKMLLDQGGFAPCFLGCFLPLVGALNGLSAQDNWAKLQRDYPDALITNYYLWPAVQLANFYLVPLHYRLAVVQC
VAVIWNSYLSWKAHRL*
Variant Samples
Additional References at PubMed
PMID:23714749   PMID:23829229   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000439109 CLINVAR
  RCV000855706 CLINVAR
  RCV003227483 CLINVAR
  RCV003401418 CLINVAR
  RCV003470380 CLINVAR
dbSNP (RS) rs375401970 CLINVAR
MedGen C0342782 CLINVAR
  C1850406 CLINVAR
  C3661900 CLINVAR
  C4310690 CLINVAR
  C5193076 CLINVAR
NCBI Gene MPV17 CLINVAR
OMIM 137960 CLINVAR
  256810 CLINVAR
  617156 CLINVAR
  618400 CLINVAR