RGD:12913852 Rat Genome Database

Variant: RGD:12913852 - Homo sapiens

RGD ID:

12913852

RS ID:

rs535695991

ClinVar ID:

CV422125

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

ACSF3

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	16	89,211,677
GRCh38	16	89,145,269

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_031961.1:g.56461G>A NC_000016.10:g.89145269G>A NC_000016.9:g.89211677G>A NM_174917.3:c.1369G>A More...	07/01/2021	missense variant	uncertain significance	Isolated Methylmalonic Acidemia; none provided

Disease Annotations Click to see Annotation Detail View

genetic disease (IAGP)

methylmalonic acidemia (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Methylmalonic acidemia (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	457

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLPHVVLTFRRLGCALASCRLAPARHRGSGLLHTAPVARSDRSAPVFTRALAFGDRIALVDQHGRHTYRELYSRSLRLSQ EICRLCGCVGGDLREERVSFLCANDASYVVAQWASWMSGGVAVPLYRKHPAAQLEYVICDSQSSVVLASQEYLELLSPVV RKLGVPLLPLTPAIYTGAVEEPAEVPVPEQGWRNKGAMIIYTSGTTGRPKGVLSTHQNIRAVVTGLVHKWAWTKDDVILH VLPLHHVHGVVNALLCPLWVGATCVMMPEFSPQQVWEKFLSSETPRINVFMAVPTIYTKLMEYYDRHFTQPHAQDFLRAV CEEKIRLMVSGSAALPLPVLEKWKNITGHTLLERYGMTEIGMALSGPLTTAVRLPGSVGTPLPGVQVRIVSENPQREACS YTIHAEGDERGTKVTPGFEEKEGELLVRGPSVFREYWNKPEETKSAFTLDGWFKTGNTVVFKDGQYWIRGRTSVDIIKTG GYKVSALEVEWHLLAHPSITDVAVIGVPDMTWGQRVTAVVTLREGHSLSHRELKEWARLKEHPTKRRENSILNIGRKRNL ASGMRALTGRMAARRAAVSSEVSSSDETDNSLKRHKLPRLTQTLKQTEQF*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	457

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLPHVVLTFRRLGCALASCRLAPARHRGSGLLHTAPVARSDRSAPVFTRALAFGDRIALVDQHGRHTYRELYSRSLRLSQ EICRLCGCVGGDLREERVSFLCANDASYVVAQWASWMSGGVAVPLYRKHPAAQLEYVICDSQSSVVLASQEYLELLSPVV RKLGVPLLPLTPAIYTGAVEEPAEVPVPEQGWRNKGAMIIYTSGTTGRPKGVLSTHQNIRAVVTGLVHKWAWTKDDVILH VLPLHHVHGVVNALLCPLWVGATCVMMPEFSPQQVWEKFLSSETPRINVFMAVPTIYTKLMEYYDRHFTQPHAQDFLRAV CEEKIRLMVSGSAALPLPVLEKWKNITGHTLLERYGMTEIGMALSGPLTTAVRLPGSVGTPLPGVQVRIVSENPQREACS YTIHAEGDERGTKVTPGFEEKEGELLVRGPSVFREYWNKPEETKSAFTLDGWFKTGNTVVFKDGQYWIRGRTSVDIIKTG GYKVSALEVEWHLLAHPSITDVAVIGVPDMTWGQRVTAVVTLREGHSLSHRELKEWARLKEHPTKRRENSILNIGRKRNL ASGMRALTGRMAARRAAVSSEVSSSDETDNSLKRHKLPRLTQTLKQTEQF*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	457

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLPHVVLTFRRLGCALASCRLAPARHRGSGLLHTAPVARSDRSAPVFTRALAFGDRIALVDQHGRHTYRELYSRSLRLSQ EICRLCGCVGGDLREERVSFLCANDASYVVAQWASWMSGGVAVPLYRKHPAAQLEYVICDSQSSVVLASQEYLELLSPVV RKLGVPLLPLTPAIYTGAVEEPAEVPVPEQGWRNKGAMIIYTSGTTGRPKGVLSTHQNIRAVVTGLVHKWAWTKDDVILH VLPLHHVHGVVNALLCPLWVGATCVMMPEFSPQQVWEKFLSSETPRINVFMAVPTIYTKLMEYYDRHFTQPHAQDFLRAV CEEKIRLMVSGSAALPLPVLEKWKNITGHTLLERYGMTEIGMALSGPLTTAVRLPGSVGTPLPGVQVRIVSENPQREACS YTIHAEGDERGTKVTPGFEEKEGELLVRGPSVFREYWNKPEETKSAFTLDGWFKTGNTVVFKDGQYWIRGRTSVDIIKTG GYKVSALEVEWHLLAHPSITDVAVIGVPDMTWGQRVTAVVTLREGHSLSHRELKEWARNVLAPYAVPSELVLVEEIPRNQ MGKIDKKALIRHFHPS*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	457

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLPHVVLTFRRLGCALASCRLAPARHRGSGLLHTAPVARSDRSAPVFTRALAFGDRIALVDQHGRHTYRELYSRSLRLSQ EICRLCGCVGGDLREERVSFLCANDASYVVAQWASWMSGGVAVPLYRKHPAAQLEYVICDSQSSVVLASQEYLELLSPVV RKLGVPLLPLTPAIYTGAVEEPAEVPVPEQGWRNKGAMIIYTSGTTGRPKGVLSTHQNIRAVVTGLVHKWAWTKDDVILH VLPLHHVHGVVNALLCPLWVGATCVMMPEFSPQQVWEKFLSSETPRINVFMAVPTIYTKLMEYYDRHFTQPHAQDFLRAV CEEKIRLMVSGSAALPLPVLEKWKNITGHTLLERYGMTEIGMALSGPLTTAVRLPGSVGTPLPGVQVRIVSENPQREACS YTIHAEGDERGTKVTPGFEEKEGELLVRGPSVFREYWNKPEETKSAFTLDGWFKTGNTVVFKDGQYWIRGRTSVDIIKTG GYKVSALEVEWHLLAHPSITDVAVIGVPDMTWGQRVTAVVTLREGHSLSHRELKEWARDGVSPCWPSWSRTPDFK*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	457

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLPHVVLTFRRLGCALASCRLAPARHRGSGLLHTAPVARSDRSAPVFTRALAFGDRIALVDQHGRHTYRELYSRSLRLSQ EICRLCGCVGGDLREERVSFLCANDASYVVAQWASWMSGGVAVPLYRKHPAAQLEYVICDSQSSVVLASQEYLELLSPVV RKLGVPLLPLTPAIYTGAVEEPAEVPVPEQGWRNKGAMIIYTSGTTGRPKGVLSTHQNIRAVVTGLVHKWAWTKDDVILH VLPLHHVHGVVNALLCPLWVGATCVMMPEFSPQQVWEKFLSSETPRINVFMAVPTIYTKLMEYYDRHFTQPHAQDFLRAV CEEKIRLMVSGSAALPLPVLEKWKNITGHTLLERYGMTEIGMALSGPLTTAVRLPGSVGTPLPGVQVRIVSENPQREACS YTIHAEGDERGTKVTPGFEEKEGELLVRGPSVFREYWNKPEETKSAFTLDGWFKTGNTVVFKDGQYWIRGRTSVDIIKTG GYKVSALEVEWHLLAHPSITDVAVIGVPDMTWGQRVTAVVTLREGHSLSHRELKEWARDGVSPCWPSWSRTPDFK*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	192

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMPEFSPQQVWEKFLSSETPRINVFMAVPTIYTKLMEYYDRHFTQPHAQDFLRAVCEEKIRLMVSGSAALPLPVLEKWKN ITGHTLLERYGMTEIGMALSGPLTTAVRLPGSVGTPLPGVQVRIVSENPQREACSYTIHAEGDERGTKVTPGFEEKEGEL LVRGPSVFREYWNKPEETKSAFTLDGWFKTGNTVVFKDGQYWIRGRTSVDIIKTGGYKVSALEVEWHLLAHPSITDVAVI GVPDMTWGQRVTAVVTLREGHSLSHRELKEWARLKEHPTKRRENSILNIGRKRNLASGMRALTGRMAARRAAVSSEVSSS DETDNSLKRHKLPRLTQTLKQTEQF*

Gene Symbol:	ACSF3
Accession:	NM_001284316
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	192

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMPEFSPQQVWEKFLSSETPRINVFMAVPTIYTKLMEYYDRHFTQPHAQDFLRAVCEEKIRLMVSGSAALPLPVLEKWKN ITGHTLLERYGMTEIGMALSGPLTTAVRLPGSVGTPLPGVQVRIVSENPQREACSYTIHAEGDERGTKVTPGFEEKEGEL LVRGPSVFREYWNKPEETKSAFTLDGWFKTGNTVVFKDGQYWIRGRTSVDIIKTGGYKVSALEVEWHLLAHPSITDVAVI GVPDMTWGQRVTAVVTLREGHSLSHRELKEWARNVLAPYAVPSELVLVEEIPRNQMGKIDKKALIRHFHPS*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	457

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLPHVVLTFRRLGCALASCRLAPARHRGSGLLHTAPVARSDRSAPVFTRALAFGDRIALVDQHGRHTYRELYSRSLRLSQ EICRLCGCVGGDLREERVSFLCANDASYVVAQWASWMSGGVAVPLYRKHPAAQLEYVICDSQSSVVLASQEYLELLSPVV RKLGVPLLPLTPAIYTGAVEEPAEVPVPEQGWRNKGAMIIYTSGTTGRPKGVLSTHQNIRAVVTGLVHKWAWTKDDVILH VLPLHHVHGVVNALLCPLWVGATCVMMPEFSPQQVWEKFLSSETPRINVFMAVPTIYTKLMEYYDRHFTQPHAQDFLRAV CEEKIRLMVSGSAALPLPVLEKWKNITGHTLLERYGMTEIGMALSGPLTTAVRLPGSVGTPLPGVQVRIVSENPQREACS YTIHAEGDERGTKVTPGFEEKEGELLVRGPSVFREYWNKPEETKSAFTLDGWFKTGNTVVFKDGQYWIRGRTSVDIIKTG GYKVSALEVEWHLLAHPSITDVAVIGVPDMTWGQRVTAVVTLREGHSLSHRELKEWARDGVSPCWPSWSRTPDFK*

Gene Symbol:	ACSF3
Accession:	NM_001243279
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	457

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLPHVVLTFRRLGCALASCRLAPARHRGSGLLHTAPVARSDRSAPVFTRALAFGDRIALVDQHGRHTYRELYSRSLRLSQ EICRLCGCVGGDLREERVSFLCANDASYVVAQWASWMSGGVAVPLYRKHPAAQLEYVICDSQSSVVLASQEYLELLSPVV RKLGVPLLPLTPAIYTGAVEEPAEVPVPEQGWRNKGAMIIYTSGTTGRPKGVLSTHQNIRAVVTGLVHKWAWTKDDVILH VLPLHHVHGVVNALLCPLWVGATCVMMPEFSPQQVWEKFLSSETPRINVFMAVPTIYTKLMEYYDRHFTQPHAQDFLRAV CEEKIRLMVSGSAALPLPVLEKWKNITGHTLLERYGMTEIGMALSGPLTTAVRLPGSVGTPLPGVQVRIVSENPQREACS YTIHAEGDERGTKVTPGFEEKEGELLVRGPSVFREYWNKPEETKSAFTLDGWFKTGNTVVFKDGQYWIRGRTSVDIIKTG GYKVSALEVEWHLLAHPSITDVAVIGVPDMTWGQRVTAVVTLREGHSLSHRELKEWARNVLAPYAVPSELVLVEEIPRNQ MGKIDKKALIRHFHPS*

Gene Symbol:	ACSF3
Accession:	NM_174917
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	457

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLPHVVLTFRRLGCALASCRLAPARHRGSGLLHTAPVARSDRSAPVFTRALAFGDRIALVDQHGRHTYRELYSRSLRLSQ EICRLCGCVGGDLREERVSFLCANDASYVVAQWASWMSGGVAVPLYRKHPAAQLEYVICDSQSSVVLASQEYLELLSPVV RKLGVPLLPLTPAIYTGAVEEPAEVPVPEQGWRNKGAMIIYTSGTTGRPKGVLSTHQNIRAVVTGLVHKWAWTKDDVILH VLPLHHVHGVVNALLCPLWVGATCVMMPEFSPQQVWEKFLSSETPRINVFMAVPTIYTKLMEYYDRHFTQPHAQDFLRAV CEEKIRLMVSGSAALPLPVLEKWKNITGHTLLERYGMTEIGMALSGPLTTAVRLPGSVGTPLPGVQVRIVSENPQREACS YTIHAEGDERGTKVTPGFEEKEGELLVRGPSVFREYWNKPEETKSAFTLDGWFKTGNTVVFKDGQYWIRGRTSVDIIKTG GYKVSALEVEWHLLAHPSITDVAVIGVPDMTWGQRVTAVVTLREGHSLSHRELKEWARNVLAPYAVPSELVLVEEIPRNQ MGKIDKKALIRHFHPS*

Gene Symbol:	ACSF3
Accession:	NM_001127214
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	457

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLPHVVLTFRRLGCALASCRLAPARHRGSGLLHTAPVARSDRSAPVFTRALAFGDRIALVDQHGRHTYRELYSRSLRLSQ EICRLCGCVGGDLREERVSFLCANDASYVVAQWASWMSGGVAVPLYRKHPAAQLEYVICDSQSSVVLASQEYLELLSPVV RKLGVPLLPLTPAIYTGAVEEPAEVPVPEQGWRNKGAMIIYTSGTTGRPKGVLSTHQNIRAVVTGLVHKWAWTKDDVILH VLPLHHVHGVVNALLCPLWVGATCVMMPEFSPQQVWEKFLSSETPRINVFMAVPTIYTKLMEYYDRHFTQPHAQDFLRAV CEEKIRLMVSGSAALPLPVLEKWKNITGHTLLERYGMTEIGMALSGPLTTAVRLPGSVGTPLPGVQVRIVSENPQREACS YTIHAEGDERGTKVTPGFEEKEGELLVRGPSVFREYWNKPEETKSAFTLDGWFKTGNTVVFKDGQYWIRGRTSVDIIKTG GYKVSALEVEWHLLAHPSITDVAVIGVPDMTWGQRVTAVVTLREGHSLSHRELKEWARNVLAPYAVPSELVLVEEIPRNQ MGKIDKKALIRHFHPS*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	457

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLPHVVLTFRRLGCALASCRLAPARHRGSGLLHTAPVARSDRSAPVFTRALAFGDRIALVDQHGRHTYRELYSRSLRLSQ EICRLCGCVGGDLREERVSFLCANDASYVVAQWASWMSGGVAVPLYRKHPAAQLEYVICDSQSSVVLASQEYLELLSPVV RKLGVPLLPLTPAIYTGAVEEPAEVPVPEQGWRNKGAMIIYTSGTTGRPKGVLSTHQNIRAVVTGLVHKWAWTKDDVILH VLPLHHVHGVVNALLCPLWVGATCVMMPEFSPQQVWEKFLSSETPRINVFMAVPTIYTKLMEYYDRHFTQPHAQDFLRAV CEEKIRLMVSGSAALPLPVLEKWKNITGHTLLERYGMTEIGMALSGPLTTAVRLPGSVGTPLPGVQVRIVSENPQREACS YTIHAEGDERGTKVTPGFEEKEGELLVRGPSVFREYWNKPEETKSAFTLDGWFKTGNTVVFKDGQYWIRGRTSVDIIKTG GYKVSALEVEWHLLAHPSITDVAVIGVPDMTWGQRVTAVVTLREGHSLSHRELKEWARLKEHPTKRRENSILNIGRKRNL ASGMRALTGRMAARRAAVSSEVSSSDETDNSLKRHKLPRLTQTLKQTEQF*

Gene Symbol:	ACSF3
Accession:	NR_147928
Location:	EXON;NON-CODING

Gene Symbol:	ACSF3
Accession:	NR_147929
Location:	EXON;NON-CODING

Gene Symbol:	ACSF3
Accession:	NR_045667
Location:	EXON;NON-CODING

Gene Symbol:	ACSF3
Accession:	NR_104293
Location:	EXON;NON-CODING

Gene Symbol:
Accession:
Location:	INTRON

Gene Symbol:
Accession:
Location:	INTRON

Gene Symbol:
Accession:
Location:	INTRON

Gene Symbol:
Accession:
Location:	INTRON

Gene Symbol:
Accession:
Location:	INTRON

Gene Symbol:
Accession:
Location:	INTRON

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

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

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000494337	CLINVAR
	RCV001274021	CLINVAR
	RCV003362802	CLINVAR
dbSNP (RS)	rs535695991	CLINVAR
MedGen	C0268583	CLINVAR
	C0950123	CLINVAR
	C3661900	CLINVAR
NCBI Gene	ACSF3	CLINVAR
OMIM	614245	CLINVAR
SNOMED CT	42393006	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)

Variant: RGD:12913852 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:12913852 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar