RGD:9691296 Rat Genome Database

Variant: RGD:9691296 - Homo sapiens

RGD ID:

9691296

RS ID:

rs727502769

ClinVar ID:

CV172189

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

MAF

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	16	79,633,627
GRCh38	16	79,599,730

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_016440.1:g.5996C>T NC_000016.10:g.79599730G>A NC_000016.9:g.79633627G>A NP_005351.2:p.Thr58Ile More...	02/01/2021	missense variant	pathogenic	none provided

Disease Annotations Click to see Annotation Detail View

Ayme-Gripp syndrome (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	MAF
Accession:	NM_005360
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	58

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASELAMSNSDLPTSPLAMEYVNDFDLMKFEVKKEPVETDRIISQCGRLIAGGSLSSIPMSTPCSSVPPSPSFSAPSPGS GSEQKAHLEDYYWMTGYPQQLNPEALGFSPEDAVEALISNSHQLQGGFDGYARGAQQLAAAAGAGAGASLGGSGEEMGPA AAVVSAVIAAAAAQSGAGPHYHHHHHHAAGHHHHPTAGAPGAAGSAAASAGGAGGAGGGGPASAGGGGGGGGGGGGGGAA GAGGALHPHHAAGGLHFDDRFSDEQLVTMSVRELNRQLRGVSKEEVIRLKQKRRTLKNRGYAQSCRFKRVQQRHVLESEK NQLLQQVDHLKQEISRLVRERDAYKEKYEKLVSSGFRENGSSSDNPSSPEFFITEPTRKLEPSVGYATFWKPQHRVLTSV FTK*

Gene Symbol:	MAF
Accession:	NM_001031804
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	58

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASELAMSNSDLPTSPLAMEYVNDFDLMKFEVKKEPVETDRIISQCGRLIAGGSLSSIPMSTPCSSVPPSPSFSAPSPGS GSEQKAHLEDYYWMTGYPQQLNPEALGFSPEDAVEALISNSHQLQGGFDGYARGAQQLAAAAGAGAGASLGGSGEEMGPA AAVVSAVIAAAAAQSGAGPHYHHHHHHAAGHHHHPTAGAPGAAGSAAASAGGAGGAGGGGPASAGGGGGGGGGGGGGGAA GAGGALHPHHAAGGLHFDDRFSDEQLVTMSVRELNRQLRGVSKEEVIRLKQKRRTLKNRGYAQSCRFKRVQQRHVLESEK NQLLQQVDHLKQEISRLVRERDAYKEKYEKLVSSGFRENGSSSDNPSSPEFFM*

Gene Symbol:	MAF
Accession:	XM_017023234
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	58

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASELAMSNSDLPTSPLAMEYVNDFDLMKFEVKKEPVETDRIISQCGRLIAGGSLSSIPMSTPCSSVPPSPSFSAPSPGS GSEQKAHLEDYYWMTGYPQQLNPEALGFSPEDAVEALISNSHQLQGGFDGYARGAQQLAAAAGAGAGASLGGSGEEMGPA AAVVSAVIAAAAAQSGAGPHYHHHHHHAAGHHHHPTAGAPGAAGSAAASAGGAGGAGGGGPASAGGGGGGGGGGGGGGAA GAGGALHPHHAAGGLHFDDRFSDEQLVTMSVRELNRQLRGVSKEEVIRLKQKRRTLKNRGYAQSCRFKRVQQRHVLESEK NQLLQQVDHLKQEISRLVRERDAYKEKYEKLVSSGFRENGSSSDNPSSPEFFMYPRESSTSVM*

Gene Symbol:	MAF
Accession:	XM_017023235
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	58

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASELAMSNSDLPTSPLAMEYVNDFDLMKFEVKKEPVETDRIISQCGRLIAGGSLSSIPMSTPCSSVPPSPSFSAPSPGS GSEQKAHLEDYYWMTGYPQQLNPEALGFSPEDAVEALISNSHQLQGGFDGYARGAQQLAAAAGAGAGASLGGSGEEMGPA AAVVSAVIAAAAAQSGAGPHYHHHHHHAAGHHHHPTAGAPGAAGSAAASAGGAGGAGGGGPASAGGGGGGGGGGGGGGAA GAGGALHPHHAAGGLHFDDRFSDEQLVTMSVRELNRQLRGVSKEEVIRLKQKRRTLKNRGYAQSCRFKRVQQRHVLESEK NQLLQQVDHLKQEISRLVRERDAYKEKYEKLVSSGFRENGSSSDNPSSPEFFMYPRESSTSVM*

Gene Symbol:	MAF
Accession:	XM_017023233
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	58

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASELAMSNSDLPTSPLAMEYVNDFDLMKFEVKKEPVETDRIISQCGRLIAGGSLSSIPMSTPCSSVPPSPSFSAPSPGS GSEQKAHLEDYYWMTGYPQQLNPEALGFSPEDAVEALISNSHQLQGGFDGYARGAQQLAAAAGAGAGASLGGSGEEMGPA AAVVSAVIAAAAAQSGAGPHYHHHHHHAAGHHHHPTAGAPGAAGSAAASAGGAGGAGGGGPASAGGGGGGGGGGGGGGAA GAGGALHPHHAAGGLHFDDRFSDEQLVTMSVRELNRQLRGVSKEEVIRLKQKRRTLKNRGYAQSCRFKRVQQRHVLESEK NQLLQQVDHLKQEISRLVRERDAYKEKYEKLVSSGFRENGSSSDNPSSPEFFMYPRESSTSVM*

Gene Symbol:	MAF
Accession:	XM_024450279
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	58

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASELAMSNSDLPTSPLAMEYVNDFDLMKFEVKKEPVETDRIISQCGRLIAGGSLSSIPMSTPCSSVPPSPSFSAPSPGS GSEQKAHLEDYYWMTGYPQQLNPEALGFSPEDAVEALISNSHQLQGGFDGYARGAQQLAAAAGAGAGASLGGSGEEMGPA AAVVSAVIAAAAAQSGAGPHYHHHHHHAAGHHHHPTAGAPGAAGSAAASAGGAGGAGGGGPASAGGGGGGGGGGGGGGAA GAGGALHPHHAAGGLHFDDRFSDEQLVTMSVRELNRQLRGVSKEEVIRLKQKRRTLKNRGYAQSCRFKRVQQRHVLESEK NQLLQQVDHLKQEISRLVRERDAYKEKYEKLVSSGFRENGSSSDNPSSPEFFMYPRESSTSVM*

Gene Symbol:	MAF
Accession:	XR_001751902
Location:	EXON;NON-CODING

Gene Symbol:	MAF
Accession:	XR_002957804
Location:	EXON;NON-CODING

Gene Symbol:	MAF
Accession:	XR_002957803
Location:	EXON;NON-CODING

Gene Symbol:	MAF
Accession:	XR_002957802
Location:	EXON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:12072800	PMID:25741868	PMID:25865493

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000149904	CLINVAR
	RCV000254853	CLINVAR
dbSNP (RS)	rs727502769	CLINVAR
MedGen	C1832812	CLINVAR
	CN517202	CLINVAR
NCBI Gene	MAF	CLINVAR
OMIM	177075	CLINVAR
	601088	CLINVAR
OMIM Allele	177075.0007	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:9691296 - Homo sapiens

Imported Disease Annotations - ClinVar