RGD:156088385 Rat Genome Database

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Variant: RGD:156088385 -  Homo sapiens

RGD ID: 156088385
ClinVar ID: CV1983898
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MIF4GD-DT  SLC25A19  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 73,269,657
GRCh38 17 75,273,576
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_021734.5:c.838G>A
NG_008274.1:g.20874G>A
NR_036520.1:n.2278C>T
NP_068380.3:p.Gly280Ser
More... 		08/01/2022 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:SLC25A19
Accession:XM_005257559
Location:EXON
Amino Acid Prediction: G to C (nonsynonymous)
Amino Acid Position: 280
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVGYDPKPDGRNNTKFQVAVAGSVSGLVTRALISPFDVIKIRFQLQHERLSRSDPSAKYHGILQASRQILQEEGPTAFWK
GHVPAQILSIGYGAVQFLSFEMLTELVHRGSVYDAREFSVHFVCGGLAACMATLTVHPVDVLRTRFAAQGEPKVYNTLRH
AVGTMYRSEGPQVFYKGLAPTLIAIFPYAGLQFSCYSSLKHLYKWAIPAEGKKNENLQNLLCGSGAGVISKTLTYPLDLF
KKRLQVGGFEHARAAFGQVRRYKGLMDCAKQVLQKEGALCFFKGLSPSLLKAALSTGFMFFSYEFFCNVFHCMNRTASQR
*

Gene Symbol:SLC25A19
Accession:XM_047436513
Location:EXON
Amino Acid Prediction: G to C (nonsynonymous)
Amino Acid Position: 280
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVGYDPKPDGRNNTKFQVAVAGSVSGLVTRALISPFDVIKIRFQLQHERLSRSDPSAKYHGILQASRQILQEEGPTAFWK
GHVPAQILSIGYGAVQFLSFEMLTELVHRGSVYDAREFSVHFVCGGLAACMATLTVHPVDVLRTRFAAQGEPKVYNTLRH
AVGTMYRSEGPQVFYKGLAPTLIAIFPYAGLQFSCYSSLKHLYKWAIPAEGKKNENLQNLLCGSGAGVISKTLTYPLDLF
KKRLQVGGFEHARAAFGQVRRYKGLMDCAKQVLQKEGALCFFKGLSPSLLKAALSTGFMFFSYEFFCNVFHCMNRTASQR
*

Gene Symbol:SLC25A19
Accession:NM_001126122
Location:EXON
Amino Acid Prediction: G to C (nonsynonymous)
Amino Acid Position: 280
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVGYDPKPDGRNNTKFQVAVAGSVSGLVTRALISPFDVIKIRFQLQHERLSRSDPSAKYHGILQASRQILQEEGPTAFWK
GHVPAQILSIGYGAVQFLSFEMLTELVHRGSVYDAREFSVHFVCGGLAACMATLTVHPVDVLRTRFAAQGEPKVYNTLRH
AVGTMYRSEGPQVFYKGLAPTLIAIFPYAGLQFSCYSSLKHLYKWAIPAEGKKNENLQNLLCGSGAGVISKTLTYPLDLF
KKRLQVGGFEHARAAFGQVRRYKGLMDCAKQVLQKEGALCFFKGLSPSLLKAALSTGFMFFSYEFFCNVFHCMNRTASQR
*

Gene Symbol:SLC25A19
Accession:XM_005257561
Location:EXON
Amino Acid Prediction: G to C (nonsynonymous)
Amino Acid Position: 280
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVGYDPKPDGRNNTKFQVAVAGSVSGLVTRALISPFDVIKIRFQLQHERLSRSDPSAKYHGILQASRQILQEEGPTAFWK
GHVPAQILSIGYGAVQFLSFEMLTELVHRGSVYDAREFSVHFVCGGLAACMATLTVHPVDVLRTRFAAQGEPKVYNTLRH
AVGTMYRSEGPQVFYKGLAPTLIAIFPYAGLQFSCYSSLKHLYKWAIPAEGKKNENLQNLLCGSGAGVISKTLTYPLDLF
KKRLQVGGFEHARAAFGQVRRYKGLMDCAKQVLQKEGALCFFKGLSPSLLKAALSTGFMFFSYEFFCNVFHCMNRTASQR
*

Gene Symbol:SLC25A19
Accession:XM_047436514
Location:EXON
Amino Acid Prediction: G to C (nonsynonymous)
Amino Acid Position: 175
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVGYDPKPDGRNNTKFQVAVAGSVSGLVTRALISPFDVIKIRFQLQHERLSRSDPSAKYHGILQASRQILQEEGPTAFWK
GHVPAQILSIGYGAVQFLSFEMLTELVHRGSVYDAREFSVHFVCGGLAACMATLTVHPVDVLRTRFAAQGEPKVRRYKGL
MDCAKQVLQKEGALCFFKGLSPSLLKAALSTGFMFFSYEFFCNVFHCMNRTASQR*

Gene Symbol:SLC25A19
Accession:XM_017024928
Location:EXON
Amino Acid Prediction: G to C (nonsynonymous)
Amino Acid Position: 175
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVGYDPKPDGRNNTKFQVAVAGSVSGLVTRALISPFDVIKIRFQLQHERLSRSDPSAKYHGILQASRQILQEEGPTAFWK
GHVPAQILSIGYGAVQFLSFEMLTELVHRGSVYDAREFSVHFVCGGLAACMATLTVHPVDVLRTRFAAQGEPKVRRYKGL
MDCAKQVLQKEGALCFFKGLSPSLLKAALSTGFMFFSYEFFCNVFHCMNRTASQR*

Gene Symbol:SLC25A19
Accession:NM_021734
Location:EXON
Amino Acid Prediction: G to C (nonsynonymous)
Amino Acid Position: 280
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVGYDPKPDGRNNTKFQVAVAGSVSGLVTRALISPFDVIKIRFQLQHERLSRSDPSAKYHGILQASRQILQEEGPTAFWK
GHVPAQILSIGYGAVQFLSFEMLTELVHRGSVYDAREFSVHFVCGGLAACMATLTVHPVDVLRTRFAAQGEPKVYNTLRH
AVGTMYRSEGPQVFYKGLAPTLIAIFPYAGLQFSCYSSLKHLYKWAIPAEGKKNENLQNLLCGSGAGVISKTLTYPLDLF
KKRLQVGGFEHARAAFGQVRRYKGLMDCAKQVLQKEGALCFFKGLSPSLLKAALSTGFMFFSYEFFCNVFHCMNRTASQR
*

Gene Symbol:SLC25A19
Accession:NM_001126121
Location:EXON
Amino Acid Prediction: G to C (nonsynonymous)
Amino Acid Position: 280
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVGYDPKPDGRNNTKFQVAVAGSVSGLVTRALISPFDVIKIRFQLQHERLSRSDPSAKYHGILQASRQILQEEGPTAFWK
GHVPAQILSIGYGAVQFLSFEMLTELVHRGSVYDAREFSVHFVCGGLAACMATLTVHPVDVLRTRFAAQGEPKVYNTLRH
AVGTMYRSEGPQVFYKGLAPTLIAIFPYAGLQFSCYSSLKHLYKWAIPAEGKKNENLQNLLCGSGAGVISKTLTYPLDLF
KKRLQVGGFEHARAAFGQVRRYKGLMDCAKQVLQKEGALCFFKGLSPSLLKAALSTGFMFFSYEFFCNVFHCMNRTASQR
*

Gene Symbol:SLC25A19
Accession:XM_005257562
Location:EXON
Amino Acid Prediction: G to C (nonsynonymous)
Amino Acid Position: 280
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVGYDPKPDGRNNTKFQVAVAGSVSGLVTRALISPFDVIKIRFQLQHERLSRSDPSAKYHGILQASRQILQEEGPTAFWK
GHVPAQILSIGYGAVQFLSFEMLTELVHRGSVYDAREFSVHFVCGGLAACMATLTVHPVDVLRTRFAAQGEPKVYNTLRH
AVGTMYRSEGPQVFYKGLAPTLIAIFPYAGLQFSCYSSLKHLYKWAIPAEGKKNENLQNLLCGSGAGVISKTLTYPLDLF
KKRLQVGGFEHARAAFGQVRRYKGLMDCAKQVLQKEGALCFFKGLSPSLLKAALSTGFMFFSYEFFCNVFHCMNRTASQR
*

Gene Symbol:SLC25A19
Accession:XM_006722007
Location:EXON
Amino Acid Prediction: G to C (nonsynonymous)
Amino Acid Position: 280
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVGYDPKPDGRNNTKFQVAVAGSVSGLVTRALISPFDVIKIRFQLQHERLSRSDPSAKYHGILQASRQILQEEGPTAFWK
GHVPAQILSIGYGAVQFLSFEMLTELVHRGSVYDAREFSVHFVCGGLAACMATLTVHPVDVLRTRFAAQGEPKVYNTLRH
AVGTMYRSEGPQVFYKGLAPTLIAIFPYAGLQFSCYSSLKHLYKWAIPAEGKKNENLQNLLCGSGAGVISKTLTYPLDLF
KKRLQVGGFEHARAAFGQVRRYKGLMDCAKQVLQKEGALCFFKGLSPSLLKAALSTGFMFFSYEFFCNVFHCMNRTASQR
*

Gene Symbol:SLC25A19
Accession:XM_005257560
Location:EXON
Amino Acid Prediction: G to C (nonsynonymous)
Amino Acid Position: 280
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVGYDPKPDGRNNTKFQVAVAGSVSGLVTRALISPFDVIKIRFQLQHERLSRSDPSAKYHGILQASRQILQEEGPTAFWK
GHVPAQILSIGYGAVQFLSFEMLTELVHRGSVYDAREFSVHFVCGGLAACMATLTVHPVDVLRTRFAAQGEPKVYNTLRH
AVGTMYRSEGPQVFYKGLAPTLIAIFPYAGLQFSCYSSLKHLYKWAIPAEGKKNENLQNLLCGSGAGVISKTLTYPLDLF
KKRLQVGGFEHARAAFGQVRRYKGLMDCAKQVLQKEGALCFFKGLSPSLLKAALSTGFMFFSYEFFCNVFHCMNRTASQR
*

Gene Symbol:SLC25A19
Accession:XM_047436512
Location:EXON
Amino Acid Prediction: G to C (nonsynonymous)
Amino Acid Position: 280
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVGYDPKPDGRNNTKFQVAVAGSVSGLVTRALISPFDVIKIRFQLQHERLSRSDPSAKYHGILQASRQILQEEGPTAFWK
GHVPAQILSIGYGAVQFLSFEMLTELVHRGSVYDAREFSVHFVCGGLAACMATLTVHPVDVLRTRFAAQGEPKVYNTLRH
AVGTMYRSEGPQVFYKGLAPTLIAIFPYAGLQFSCYSSLKHLYKWAIPAEGKKNENLQNLLCGSGAGVISKTLTYPLDLF
KKRLQVGGFEHARAAFGQVRRYKGLMDCAKQVLQKEGALCFFKGLSPSLLKAALSTGFMFFSYEFFCNVFHCMNRTASQR
*

Gene Symbol:MIF4GD-DT
Accession:NR_036520
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002621774 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene MIF4GD-DT CLINVAR
  SLC25A19 CLINVAR
OMIM 606521 CLINVAR