RGD:11580651 Rat Genome Database

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Variant: RGD:11580651 - Homo sapiens

RGD ID:

11580651

RS ID:

rs148372053

ClinVar ID:

CV265350

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

MIF4GD-DT SLC25A19

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	17	73,269,698
GRCh38	17	75,273,617

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Age of Onset	Prevalence	Trait Synonyms
NM_021734.4:c.797T>G NG_008274.1:g.20833T>G NC_000017.11:g.75273617A>C NC_000017.10:g.73269698A>C More...	07/15/2018	missense variant	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	infancy	mcpha has been found primarily in the old order amish who have ancestors in lancaster county, pennsylvania. at least 61 affected infants have been born to 33 nuclear families in the past 40 years. in this population, incidence is approximately one in 500 births. the report of siu et al [2010] shows that the phenotype is not limited to the old order amish population, although prevalence is difficult to estimate.	AllHighlyPenetrant; Microcephaly, Amish type; none provided; SLC25A19-related condition; THIAMINE METABOLISM DYSFUNCTION SYNDROME 3 (MICROCEPHALY TYPE)

Disease Annotations Click to see Annotation Detail View

Amish Lethal Microcephaly (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	SLC25A19
Accession:	NM_001126122
Location:	EXON
Amino Acid Prediction:	M to R (nonsynonymous)
Amino Acid Position:	266

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVGYDPKPDGRNNTKFQVAVAGSVSGLVTRALISPFDVIKIRFQLQHERLSRSDPSAKYHGILQASRQILQEEGPTAFWK GHVPAQILSIGYGAVQFLSFEMLTELVHRGSVYDAREFSVHFVCGGLAACMATLTVHPVDVLRTRFAAQGEPKVYNTLRH AVGTMYRSEGPQVFYKGLAPTLIAIFPYAGLQFSCYSSLKHLYKWAIPAEGKKNENLQNLLCGSGAGVISKTLTYPLDLF KKRLQVGGFEHARAAFGQVRRYKGLRDCAKQVLQKEGALGFFKGLSPSLLKAALSTGFMFFSYEFFCNVFHCMNRTASQR *

Gene Symbol:	SLC25A19
Accession:	XM_006722007
Location:	EXON
Amino Acid Prediction:	M to R (nonsynonymous)
Amino Acid Position:	266

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVGYDPKPDGRNNTKFQVAVAGSVSGLVTRALISPFDVIKIRFQLQHERLSRSDPSAKYHGILQASRQILQEEGPTAFWK GHVPAQILSIGYGAVQFLSFEMLTELVHRGSVYDAREFSVHFVCGGLAACMATLTVHPVDVLRTRFAAQGEPKVYNTLRH AVGTMYRSEGPQVFYKGLAPTLIAIFPYAGLQFSCYSSLKHLYKWAIPAEGKKNENLQNLLCGSGAGVISKTLTYPLDLF KKRLQVGGFEHARAAFGQVRRYKGLRDCAKQVLQKEGALGFFKGLSPSLLKAALSTGFMFFSYEFFCNVFHCMNRTASQR *

Gene Symbol:	SLC25A19
Accession:	XM_017024928
Location:	EXON
Amino Acid Prediction:	M to R (nonsynonymous)
Amino Acid Position:	161

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVGYDPKPDGRNNTKFQVAVAGSVSGLVTRALISPFDVIKIRFQLQHERLSRSDPSAKYHGILQASRQILQEEGPTAFWK GHVPAQILSIGYGAVQFLSFEMLTELVHRGSVYDAREFSVHFVCGGLAACMATLTVHPVDVLRTRFAAQGEPKVRRYKGL RDCAKQVLQKEGALGFFKGLSPSLLKAALSTGFMFFSYEFFCNVFHCMNRTASQR*

Gene Symbol:	SLC25A19
Accession:	NM_001126121
Location:	EXON
Amino Acid Prediction:	M to R (nonsynonymous)
Amino Acid Position:	266

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVGYDPKPDGRNNTKFQVAVAGSVSGLVTRALISPFDVIKIRFQLQHERLSRSDPSAKYHGILQASRQILQEEGPTAFWK GHVPAQILSIGYGAVQFLSFEMLTELVHRGSVYDAREFSVHFVCGGLAACMATLTVHPVDVLRTRFAAQGEPKVYNTLRH AVGTMYRSEGPQVFYKGLAPTLIAIFPYAGLQFSCYSSLKHLYKWAIPAEGKKNENLQNLLCGSGAGVISKTLTYPLDLF KKRLQVGGFEHARAAFGQVRRYKGLRDCAKQVLQKEGALGFFKGLSPSLLKAALSTGFMFFSYEFFCNVFHCMNRTASQR *

Gene Symbol:	SLC25A19
Accession:	NM_021734
Location:	EXON
Amino Acid Prediction:	M to R (nonsynonymous)
Amino Acid Position:	266

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVGYDPKPDGRNNTKFQVAVAGSVSGLVTRALISPFDVIKIRFQLQHERLSRSDPSAKYHGILQASRQILQEEGPTAFWK GHVPAQILSIGYGAVQFLSFEMLTELVHRGSVYDAREFSVHFVCGGLAACMATLTVHPVDVLRTRFAAQGEPKVYNTLRH AVGTMYRSEGPQVFYKGLAPTLIAIFPYAGLQFSCYSSLKHLYKWAIPAEGKKNENLQNLLCGSGAGVISKTLTYPLDLF KKRLQVGGFEHARAAFGQVRRYKGLRDCAKQVLQKEGALGFFKGLSPSLLKAALSTGFMFFSYEFFCNVFHCMNRTASQR *

Gene Symbol:	SLC25A19
Accession:	XM_047436514
Location:	EXON
Amino Acid Prediction:	M to R (nonsynonymous)
Amino Acid Position:	161

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVGYDPKPDGRNNTKFQVAVAGSVSGLVTRALISPFDVIKIRFQLQHERLSRSDPSAKYHGILQASRQILQEEGPTAFWK GHVPAQILSIGYGAVQFLSFEMLTELVHRGSVYDAREFSVHFVCGGLAACMATLTVHPVDVLRTRFAAQGEPKVRRYKGL RDCAKQVLQKEGALGFFKGLSPSLLKAALSTGFMFFSYEFFCNVFHCMNRTASQR*

Gene Symbol:	SLC25A19
Accession:	XM_005257561
Location:	EXON
Amino Acid Prediction:	M to R (nonsynonymous)
Amino Acid Position:	266

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVGYDPKPDGRNNTKFQVAVAGSVSGLVTRALISPFDVIKIRFQLQHERLSRSDPSAKYHGILQASRQILQEEGPTAFWK GHVPAQILSIGYGAVQFLSFEMLTELVHRGSVYDAREFSVHFVCGGLAACMATLTVHPVDVLRTRFAAQGEPKVYNTLRH AVGTMYRSEGPQVFYKGLAPTLIAIFPYAGLQFSCYSSLKHLYKWAIPAEGKKNENLQNLLCGSGAGVISKTLTYPLDLF KKRLQVGGFEHARAAFGQVRRYKGLRDCAKQVLQKEGALGFFKGLSPSLLKAALSTGFMFFSYEFFCNVFHCMNRTASQR *

Gene Symbol:	SLC25A19
Accession:	XM_047436513
Location:	EXON
Amino Acid Prediction:	M to R (nonsynonymous)
Amino Acid Position:	266

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVGYDPKPDGRNNTKFQVAVAGSVSGLVTRALISPFDVIKIRFQLQHERLSRSDPSAKYHGILQASRQILQEEGPTAFWK GHVPAQILSIGYGAVQFLSFEMLTELVHRGSVYDAREFSVHFVCGGLAACMATLTVHPVDVLRTRFAAQGEPKVYNTLRH AVGTMYRSEGPQVFYKGLAPTLIAIFPYAGLQFSCYSSLKHLYKWAIPAEGKKNENLQNLLCGSGAGVISKTLTYPLDLF KKRLQVGGFEHARAAFGQVRRYKGLRDCAKQVLQKEGALGFFKGLSPSLLKAALSTGFMFFSYEFFCNVFHCMNRTASQR *

Gene Symbol:	SLC25A19
Accession:	XM_047436512
Location:	EXON
Amino Acid Prediction:	M to R (nonsynonymous)
Amino Acid Position:	266

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVGYDPKPDGRNNTKFQVAVAGSVSGLVTRALISPFDVIKIRFQLQHERLSRSDPSAKYHGILQASRQILQEEGPTAFWK GHVPAQILSIGYGAVQFLSFEMLTELVHRGSVYDAREFSVHFVCGGLAACMATLTVHPVDVLRTRFAAQGEPKVYNTLRH AVGTMYRSEGPQVFYKGLAPTLIAIFPYAGLQFSCYSSLKHLYKWAIPAEGKKNENLQNLLCGSGAGVISKTLTYPLDLF KKRLQVGGFEHARAAFGQVRRYKGLRDCAKQVLQKEGALGFFKGLSPSLLKAALSTGFMFFSYEFFCNVFHCMNRTASQR *

Gene Symbol:	SLC25A19
Accession:	XM_005257562
Location:	EXON
Amino Acid Prediction:	M to R (nonsynonymous)
Amino Acid Position:	266

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVGYDPKPDGRNNTKFQVAVAGSVSGLVTRALISPFDVIKIRFQLQHERLSRSDPSAKYHGILQASRQILQEEGPTAFWK GHVPAQILSIGYGAVQFLSFEMLTELVHRGSVYDAREFSVHFVCGGLAACMATLTVHPVDVLRTRFAAQGEPKVYNTLRH AVGTMYRSEGPQVFYKGLAPTLIAIFPYAGLQFSCYSSLKHLYKWAIPAEGKKNENLQNLLCGSGAGVISKTLTYPLDLF KKRLQVGGFEHARAAFGQVRRYKGLRDCAKQVLQKEGALGFFKGLSPSLLKAALSTGFMFFSYEFFCNVFHCMNRTASQR *

Gene Symbol:	SLC25A19
Accession:	XM_005257559
Location:	EXON
Amino Acid Prediction:	M to R (nonsynonymous)
Amino Acid Position:	266

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVGYDPKPDGRNNTKFQVAVAGSVSGLVTRALISPFDVIKIRFQLQHERLSRSDPSAKYHGILQASRQILQEEGPTAFWK GHVPAQILSIGYGAVQFLSFEMLTELVHRGSVYDAREFSVHFVCGGLAACMATLTVHPVDVLRTRFAAQGEPKVYNTLRH AVGTMYRSEGPQVFYKGLAPTLIAIFPYAGLQFSCYSSLKHLYKWAIPAEGKKNENLQNLLCGSGAGVISKTLTYPLDLF KKRLQVGGFEHARAAFGQVRRYKGLRDCAKQVLQKEGALGFFKGLSPSLLKAALSTGFMFFSYEFFCNVFHCMNRTASQR *

Gene Symbol:	SLC25A19
Accession:	XM_005257560
Location:	EXON
Amino Acid Prediction:	M to R (nonsynonymous)
Amino Acid Position:	266

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVGYDPKPDGRNNTKFQVAVAGSVSGLVTRALISPFDVIKIRFQLQHERLSRSDPSAKYHGILQASRQILQEEGPTAFWK GHVPAQILSIGYGAVQFLSFEMLTELVHRGSVYDAREFSVHFVCGGLAACMATLTVHPVDVLRTRFAAQGEPKVYNTLRH AVGTMYRSEGPQVFYKGLAPTLIAIFPYAGLQFSCYSSLKHLYKWAIPAEGKKNENLQNLLCGSGAGVISKTLTYPLDLF KKRLQVGGFEHARAAFGQVRRYKGLRDCAKQVLQKEGALGFFKGLSPSLLKAALSTGFMFFSYEFFCNVFHCMNRTASQR *

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

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:25741868	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000340152	CLINVAR
	RCV000388085	CLINVAR
	RCV000838506	CLINVAR
	RCV003930038	CLINVAR
dbSNP (RS)	rs148372053	CLINVAR
MedGen	C1846648	CLINVAR
	C3661900	CLINVAR
	CN169374	CLINVAR
NCBI Gene	100287042	CLINVAR
	SLC25A19	CLINVAR
OMIM	606521	CLINVAR
	607196	CLINVAR

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Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

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MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:11580651 - Homo sapiens

Imported Disease Annotations - ClinVar