RGD:10449922 Rat Genome Database

Variant: RGD:10449922 - Homo sapiens

RGD ID:

10449922

RS ID:

rs201498602

ClinVar ID:

CV215250

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

MFF

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	2	228,205,062
GRCh38	2	227,340,346

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_033153.1:g.20196C>T NC_000002.12:g.227340346C>T NC_000002.11:g.228205062C>T NP_001263990.1:p.Arg162Cys More...	02/13/2015	missense variant	uncertain significance	AllHighlyPenetrant

Variant Details

Variant Transcripts

Gene Symbol:	MFF
Accession:	NM_001277067
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	86

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQVPERIVVAGNNEDVSFSRPADLDLIQSTPFKPLALKTPPRVLTLSERPLDFLDLERPPTTPQNEEIRAVGRLKRERSM SENAVCQNGQLVRNDSLVTPSPQQARVCPPHMLPEDGANLSSARGILSLIQSSTRRAYQQILDVLDENRRYGISNIDTTI EGTSDDLTVVDAASLRRQIIKLNRRLQLLEEENKERAKREMVMYSITVAFWLLNSWLWFRR*

Gene Symbol:	MFF
Accession:	NM_001277065
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	136

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEISRIQYEMEYTEGISQRMRVPEKLKVAPPNADLEQGFQEGVPNASVIMQVPERIVVAGNNEDVSFSRPADLDLIQST PFKPLALKTPPRVLTLSERPLDFLDLERPPTTPQNEEIRAVGRLKRERSMSENAVCQNGQLVRNDSLYGISNIDTTIEGT SDDLTVVDAASLRRQIIKLNRRLQLLEEENKERAKREMVMYSITVAFWLLNSWLWFRR*

Gene Symbol:	MFF
Accession:	XM_024453009
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	162

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSKGTSSDTSLGRVSRAAFPSPTAAEMAEISRIQYEMEYTEGISQRMRVPEKLKVAPPNADLEQGFQEGVPNASVIMQVP ERIVVAGNNEDVSFSRPADLDLIQSTPFKPLALKTPPRVLTLSERPLDFLDLERPPTTPQNEEIRAVGRLKRERSMSENA VCQNGQLVRNDSLWHRSDSAPRNKISRFQAPISAPEYTPVLRGGSAAATSNPHHDNVRYGISNIDTTIEGTSDDLTVVDA ASLRRQIIKLNRRLQLLEEENKERAKREMVMYSITVAFWLLNSWLWFRR*

Gene Symbol:	MFF
Accession:	NM_001277061
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	162

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSKGTSSDTSLGRVSRAAFPSPTAAEMAEISRIQYEMEYTEGISQRMRVPEKLKVAPPNADLEQGFQEGVPNASVIMQVP ERIVVAGNNEDVSFSRPADLDLIQSTPFKPLALKTPPRVLTLSERPLDFLDLERPPTTPQNEEIRAVGRLKRERSMSENA VCQNGQLVRNDSLWHRSDSAPRNKISRFQAPISAPEYTVTPSPQQARVCPPHMLPEDGANLSSARGILSLIQSSTRRAYQ QILDVLDENRRPVLRGGSAAATSNPHHDNVRYGISNIDTTIEGTSDDLTVVDAASLRRQIIKLNRRLQLLEEENKERAKR EMVMYSITVAFWLLNSWLWFRR*

Gene Symbol:	MFF
Accession:	XM_017004512
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	162

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSKGTSSDTSLGRVSRAAFPSPTAAEMAEISRIQYEMEYTEGISQRMRVPEKLKVAPPNADLEQGFQEGVPNASVIMQVP ERIVVAGNNEDVSFSRPADLDLIQSTPFKPLALKTPPRVLTLSERPLDFLDLERPPTTPQNEEIRAVGRLKRERSMSENA VCQNGQLVRNDSLVTPSPQQARVCPPHMLPEDGANLSSARGILSLIQSSTRRAYQQILDVLDENRRPVLRGGSAAATSNP HHDNVRYGISNIDTTIEGTSDDLTVVDAASLRRQIIKLNRRLQLLEEENKERAKREMVMYSITVAFWLLNSWLWFRR*

Gene Symbol:	MFF
Accession:	XM_047445130
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	136

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEISRIQYEMEYTEGISQRMRVPEKLKVAPPNADLEQGFQEGVPNASVIMQVPERIVVAGNNEDVSFSRPADLDLIQST PFKPLALKTPPRVLTLSERPLDFLDLERPPTTPQNEEIRAVGRLKRERSMSENAVCQNGQLVRNDSLVTPSPQQARVCPP HMLPEDGANLSSARGILSLIQSSTRRAYQQILDVLDENRRYGISNIDTTIEGTSDDLTVVDAASLRRQIIKLNRRLQLLE EENKERAKREMVMYSITVAFWLLNSWLWFRR*

Gene Symbol:	MFF
Accession:	XM_047445127
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	162

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSKGTSSDTSLGRVSRAAFPSPTAAEMAEISRIQYEMEYTEGISQRMRVPEKLKVAPPNADLEQGFQEGVPNASVIMQVP ERIVVAGNNEDVSFSRPADLDLIQSTPFKPLALKTPPRVLTLSERPLDFLDLERPPTTPQNEEIRAVGRLKRERSMSENA VCQNGQLVRNDSLWHRSDSAPRNKISRFQAPISAPEYTVTPSPQQARVCPPHMLPEDGANLSSARGILSLIQSSTRRAYQ QILDVLDENRRYGISNIDTTIEGTSDDLTVVDAASLRRQIIKLNRRLQLLEEENKERAKREMVMYSITVAFWLLNSWLWF RR*

Gene Symbol:	MFF
Accession:	XM_047445132
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	162

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSKGTSSDTSLGRVSRAAFPSPTAAEMAEISRIQYEMEYTEGISQRMRVPEKLKVAPPNADLEQGFQEGVPNASVIMQVP ERIVVAGNNEDVSFSRPADLDLIQSTPFKPLALKTPPRVLTLSERPLDFLDLERPPTTPQNEEIRAVGRLKRERSMSENA VCQNGQLVRNDSLPVLRGGSAAATSNPHHDNVRYGISNIDTTIEGTSDDLTVVDAASLRRQIIKLNRRLQLLEEENKERA KREMVMYSITVAFWLLNSWLWFRR*

Gene Symbol:	MFF
Accession:	XM_047445133
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	162

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSKGTSSDTSLGRVSRAAFPSPTAAEMAEISRIQYEMEYTEGISQRMRVPEKLKVAPPNADLEQGFQEGVPNASVIMQVP ERIVVAGNNEDVSFSRPADLDLIQSTPFKPLALKTPPRVLTLSERPLDFLDLERPPTTPQNEEIRAVGRLKRERSMSENA VCQNGQLVRNDSLYGISNIDTTIEGTSDDLTVVDAASLRRQIIKLNRRLQLLEEENKERAKREMVMYSITVAFWLLNSWL WFRR*

Gene Symbol:	MFF
Accession:	NM_020194
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	162

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSKGTSSDTSLGRVSRAAFPSPTAAEMAEISRIQYEMEYTEGISQRMRVPEKLKVAPPNADLEQGFQEGVPNASVIMQVP ERIVVAGNNEDVSFSRPADLDLIQSTPFKPLALKTPPRVLTLSERPLDFLDLERPPTTPQNEEIRAVGRLKRERSMSENA VCQNGQLVRNDSLWHRSDSAPRNKISRFQAPISAPEYTVTPSPQQARVCPPHMLPEDGANLSSARGILSLIQSSTRRAYQ QILDVLDENRRPVLRGGSAAATSNPHHDNVRYGISNIDTTIEGTSDDLTVVDAASLRRQIIKLNRRLQLLEEENKERAKR EMVMYSITVAFWLLNSWLWFRR*

Gene Symbol:	MFF
Accession:	NM_001277062
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	136

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEISRIQYEMEYTEGISQRMRVPEKLKVAPPNADLEQGFQEGVPNASVIMQVPERIVVAGNNEDVSFSRPADLDLIQST PFKPLALKTPPRVLTLSERPLDFLDLERPPTTPQNEEIRAVGRLKRERSMSENAVCQNGQLVRNDSLVTPSPQQARVCPP HMLPEDGANLSSARGILSLIQSSTRRAYQQILDVLDENRRPVLRGGSAAATSNPHHDNVRYGISNIDTTIEGTSDDLTVV DAASLRRQIIKLNRRLQLLEEENKERAKREMVMYSITVAFWLLNSWLWFRR*

Gene Symbol:	MFF
Accession:	NM_001277068
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	136

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEISRIQYEMEYTEGISQRMRVPEKLKVAPPNADLEQGFQEGVPNASVIMQVPERIVVAGNNEDVSFSRPADLDLIQST PFKPLALKTPPRVLTLSERPLDFLDLERPPTTPQNEEIRAVGRLKRERSMSENAVCQNGQLVRNDSLAYQQILDVLDENR RPVLRGGSAAATSNPHHDNVRYGISNIDTTIEGTSDDLTVVDAASLRRQIIKLNRRLQLLEEENKERAKREMVMYSITVA FWLLNSWLWFRR*

Gene Symbol:	MFF
Accession:	NM_001277063
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	136

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEISRIQYEMEYTEGISQRMRVPEKLKVAPPNADLEQGFQEGVPNASVIMQVPERIVVAGNNEDVSFSRPADLDLIQST PFKPLALKTPPRVLTLSERPLDFLDLERPPTTPQNEEIRAVGRLKRERSMSENAVCQNGQLVRNDSLWHRSDSAPRNKIS RFQAPISAPEYTYGISNIDTTIEGTSDDLTVVDAASLRRQIIKLNRRLQLLEEENKERAKREMVMYSITVAFWLLNSWLW FRR*

Gene Symbol:	MFF
Accession:	XM_011511500
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	162

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSKGTSSDTSLGRVSRAAFPSPTAAEMAEISRIQYEMEYTEGISQRMRVPEKLKVAPPNADLEQGFQEGVPNASVIMQVP ERIVVAGNNEDVSFSRPADLDLIQSTPFKPLALKTPPRVLTLSERPLDFLDLERPPTTPQNEEIRAVGRLKRERSMSENA VCQNGQLVRNDSLWHRSDSAPRNKISRFQAPISAPEYTVTPSPQQARVCPPHMLPEDGANLSSARGILSLIQSSTRRAYQ QILDVLDENRRPVLRGGSAAATSNPHHDNVRYGISNIDTTIEGTSDDLTVVDAASLRRQIIKLNRRLQLLEEENKERAKR EMVMYSITVAFWLLNSWLWFRR*

Gene Symbol:	MFF
Accession:	XM_047445129
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	136

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEISRIQYEMEYTEGISQRMRVPEKLKVAPPNADLEQGFQEGVPNASVIMQVPERIVVAGNNEDVSFSRPADLDLIQST PFKPLALKTPPRVLTLSERPLDFLDLERPPTTPQNEEIRAVGRLKRERSMSENAVCQNGQLVRNDSLWHRSDSAPRNKIS RFQAPISAPEYTVTPSPQQARVCPPHMLPEDGANLSSARGILSLIQSSTRRAYQQILDVLDENRRYGISNIDTTIEGTSD DLTVVDAASLRRQIIKLNRRLQLLEEENKERAKREMVMYSITVAFWLLNSWLWFRR*

Gene Symbol:	MFF
Accession:	XM_006712637
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	136

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEISRIQYEMEYTEGISQRMRVPEKLKVAPPNADLEQGFQEGVPNASVIMQVPERIVVAGNNEDVSFSRPADLDLIQST PFKPLALKTPPRVLTLSERPLDFLDLERPPTTPQNEEIRAVGRLKRERSMSENAVCQNGQLVRNDSLWHRSDSAPRNKIS RFQAPISAPEYTVTPSPQQARVCPPHMLPEDGANLSSARGILSLIQSSTRRAYQQILDVLDENRRPVLRGGSAAATSNPH HDNVRYGISNIDTTIEGTSDDLTVVDAASLRRQIIKLNRRLQLLEEENKERAKREMVMYSITVAFWLLNSWLWFRR*

Gene Symbol:	MFF
Accession:	NM_001277064
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	136

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEISRIQYEMEYTEGISQRMRVPEKLKVAPPNADLEQGFQEGVPNASVIMQVPERIVVAGNNEDVSFSRPADLDLIQST PFKPLALKTPPRVLTLSERPLDFLDLERPPTTPQNEEIRAVGRLKRERSMSENAVCQNGQLVRNDSLPVLRGGSAAATSN PHHDNVRYGISNIDTTIEGTSDDLTVVDAASLRRQIIKLNRRLQLLEEENKERAKREMVMYSITVAFWLLNSWLWFRR*

Gene Symbol:	MFF
Accession:	NM_001277066
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	136

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEISRIQYEMEYTEGISQRMRVPEKLKVAPPNADLEQGFQEGVPNASVIMQVPERIVVAGNNEDVSFSRPADLDLIQST PFKPLALKTPPRVLTLSERPLDFLDLERPPTTPQNEEIRAVGRLKRERSMSENAVCQNGQLVRNDSLYGISNIDTTIEGT SDDLTVVDAASLRRQIIKLNRRLQLLEEENKERAKREMVMYSITVAFWLLNSWLWFRR*

Gene Symbol:	MFF
Accession:	XM_047445128
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	162

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSKGTSSDTSLGRVSRAAFPSPTAAEMAEISRIQYEMEYTEGISQRMRVPEKLKVAPPNADLEQGFQEGVPNASVIMQVP ERIVVAGNNEDVSFSRPADLDLIQSTPFKPLALKTPPRVLTLSERPLDFLDLERPPTTPQNEEIRAVGRLKRERSMSENA VCQNGQLVRNDSLVTPSPQQARVCPPHMLPEDGANLSSARGILSLIQSSTRRAYQQILDVLDENRRYGISNIDTTIEGTS DDLTVVDAASLRRQIIKLNRRLQLLEEENKERAKREMVMYSITVAFWLLNSWLWFRR*

Gene Symbol:	MFF
Accession:	XM_047445131
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	162

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSKGTSSDTSLGRVSRAAFPSPTAAEMAEISRIQYEMEYTEGISQRMRVPEKLKVAPPNADLEQGFQEGVPNASVIMQVP ERIVVAGNNEDVSFSRPADLDLIQSTPFKPLALKTPPRVLTLSERPLDFLDLERPPTTPQNEEIRAVGRLKRERSMSENA VCQNGQLVRNDSLWHRSDSAPRNKISRFQAPISAPEYTYGISNIDTTIEGTSDDLTVVDAASLRRQIIKLNRRLQLLEEE NKERAKREMVMYSITVAFWLLNSWLWFRR*

Gene Symbol:	MFF
Accession:	NR_102266
Location:	EXON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000203122	CLINVAR
dbSNP (RS)	rs201498602	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	MFF	CLINVAR
OMIM	614785	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:10449922 - Homo sapiens