RGD:28876032 Rat Genome Database

Variant: RGD:28876032 - Homo sapiens

RGD ID:

28876032

RS ID:

rs116025535

ClinVar ID:

CV872476

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

ALDH6A1 BBOF1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	14	74,525,188
GRCh38	14	74,058,485

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	Trait Synonyms
NG_012257.2:g.31009C>T NM_025057.3:c.1578+1227G>A NC_000014.8:g.74525188G>A NM_001278593.2:c.*2157C>T More...	01/13/2018	3 prime utr variant	benign	MMSDH DEFICIENCY

Disease Annotations Click to see Annotation Detail View

Methylmalonate Semialdehyde Dehydrogenase Deficiency (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	ALDH6A1
Accession:	NM_001278593
Location:	3UTRS;EXON

Gene Symbol:	ALDH6A1
Accession:	NM_001278594
Location:	3UTRS;EXON

Gene Symbol:	ALDH6A1
Accession:	NM_005589
Location:	3UTRS;EXON

Gene Symbol:	BBOF1
Accession:	XM_017021662
Location:	INTRON

Gene Symbol:	BBOF1
Accession:	XM_047431785
Location:	INTRON

Gene Symbol:	BBOF1
Accession:	XM_011537174
Location:	INTRON

Gene Symbol:	BBOF1
Accession:	XM_047431782
Location:	INTRON

Gene Symbol:	BBOF1
Accession:	XM_011537171
Location:	INTRON

Gene Symbol:	BBOF1
Accession:	XM_047431779
Location:	INTRON

Gene Symbol:	BBOF1
Accession:	XM_047431781
Location:	INTRON

Gene Symbol:	BBOF1
Accession:	XM_047431783
Location:	INTRON

Gene Symbol:	BBOF1
Accession:	XM_011537177
Location:	INTRON

Gene Symbol:	BBOF1
Accession:	XM_047431780
Location:	INTRON

Gene Symbol:	BBOF1
Accession:	XM_011537179
Location:	INTRON

Gene Symbol:	BBOF1
Accession:	XM_011537178
Location:	INTRON

Gene Symbol:	BBOF1
Accession:	XM_047431778
Location:	INTRON

Gene Symbol:	BBOF1
Accession:	NM_025057
Location:	INTRON

Gene Symbol:	BBOF1
Accession:	XM_011537175
Location:	INTRON

Gene Symbol:	BBOF1
Accession:	XM_011537176
Location:	INTRON

Gene Symbol:	BBOF1
Accession:	XM_047431784
Location:	INTRON

Gene Symbol:	BBOF1
Accession:	XM_017021663
Location:	INTRON

Gene Symbol:	BBOF1
Accession:	XM_005268092
Location:	INTRON

Gene Symbol:	BBOF1
Accession:	XM_011537170
Location:	INTRON

Gene Symbol:	BBOF1
Accession:	XM_017021661
Location:	INTRON

Gene Symbol:	BBOF1
Accession:	XM_017021660
Location:	INTRON

Gene Symbol:	BBOF1
Accession:	XR_007064049
Location:	INTRON;NON-CODING

Gene Symbol:	BBOF1
Accession:	XR_007064048
Location:	INTRON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV001116154	CLINVAR
dbSNP (RS)	rs116025535	CLINVAR
MedGen	C3279840	CLINVAR
NCBI Gene	ALDH6A1	CLINVAR
	BBOF1	CLINVAR
OMIM	603178	CLINVAR
	614105	CLINVAR
	620496	CLINVAR

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

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

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

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Variant: RGD:28876032 - Homo sapiens

Imported Disease Annotations - ClinVar