RGD:155988004 Rat Genome Database

Variant: RGD:155988004 - Homo sapiens

RGD ID:

155988004

ClinVar ID:

CV2275758

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

FER1L6 FER1L6-AS2

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	8	125,072,520
GRCh38	8	124,060,279

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
NM_001039112.2:c.2974T>C NC_000008.11:g.124060279T>C NC_000008.10:g.125072520T>C NR_103547.1:n.609A>G NP_001034201.2:p.Tyr992His More...	05/09/2022	missense variant	uncertain significance	AllHighlyPenetrant

Variant Details

Variant Transcripts

Gene Symbol:	FER1L6
Accession:	NM_001039112
Location:	EXON
Amino Acid Prediction:	Y to H (nonsynonymous)
Amino Acid Position:	992

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFGLKVKKKRNKAEKGLILANKAAKDSQGDTEALQEEPSHQEGPRGDLVHDDASIFPVPSASPKRRSKLLTKIHDGEVRS QNYQIAITITEARQLVGENIDPVVTIEIGDEKKQSTVKEGTNSPFYNEYFVFDFIGPQVHLFDKIIKISVFHHKLIGSVL IGSFKVDLGTVYNQPGHQFCNKWALLTDPGDIRTGTKGYLKCDISVMGKGDVLKTSPKTSDTEEPIEKNLLIPNGFPLER PWARFYVRLYKAEGLPKMNSSIMANVTKAFVGDSKDLVDPFVEVSFAGQMGRTTVQKNCADPVWHEQVIFKEMFPPLCRR VKIQVWDEGSMNDVALATHFIDLKKISNEQDGDKGFLPTFGPAWINLYGSPRNHSLMDDYQEMNEGFGEGVSFRGRILVE IAVEILSGRAQESKFSKALKELKLPSKDKDSKSSKGKDKADKTEDGKSQQASNKTNSTEVEVESFDVPPEIVPEKNEEFL LFGAFFEATMIDRKIGDKPISFEVSIGNFGNLIDGGSHHGSKKSAESAEEDLLPLLHEGQGDVAHDVPIPMASTTHPEKP LVTEGNRNYNYLPFEAKKPCVYFISSWGDQTFRLHWSNMLEKMADFLEESIEEVRELIKISQEAPEEKMKTVLSDFISRS SAFISEAEKKPKMLNQTTLDKKRLTLCWQELEAMCKEAKGIIQQQKKKLSVDEMIHEAQNFVEKIRFLVDEPQHTIPDVF IWMLSNNRRVAYARIASKDLLYSPVAGQMGKHCGKIKTHFLKPPGKRPAGWSVQAKVDVYLWLGSIKHASAILDNLPVGY EAEMSSKGAGTNHPPSNLLYQEQHVFQLRAHMYQARGLIAADSNGLSDPFAKVTFLSHCQTTKIISQTLSPTWNQMLLFN DLVLHGDVKELAESPPLVVVELYDSDAVGKPEYLGATVAAPVVKLADQDYEPPRLCYHPIFCGNLSGGDLLAVFELLQVP PSGLQGLPPVEPPDITQIYPVPANIRPVLSKHRVEVLFWGVREMKKVQLLSVDRPQALIECGGQGVKSCVIQSYKNNPNF SIQADAFEVELPENELLHPPLSICVVDWRAFGRSTLVGTYTINYLKQFLCKLREPLAPITQVDGTQPGHDISDSLTATES SGAHSSSQDPPADHIYVDVEPPPTVVPDSAQAQPAILVDVPDSSPMLEPEHTPVAQEPPKDGKPKDPRKPSRRSTKRRKR TIADESAENVIDWWSKYYASLKKAQKAKERNPKGKKGNTEAKPDEVVVDIEDGPKKKKDKMLKKKPKDDGIPNLAILQIY DGDLESEFNNFEDWVKTFELFRGKSTEDDHGLDGDRVIGKFKGSFCIYKSPQDSSSEDSGQLRIQQGIPPNHPVTVLIRV YIVAAFNLSPADPDGKSDPYIVIKLGKTEIKDRDKYIPKQLNPVFGRSFEIQATFPKESLLSILIYDHDMIGTDDLIGET KIDLENRFYSKHRAICGLQSQYEIEGYNAWRDTSKPTEILTKLCKDNKLDGPYFHPGKIQIGNQVFSGKTIFTEEDTDET VESYEHLALKVLHSWEDIPEVGCRLVPEHIETRPLYHKDKPGMEQGRLQMWVDMFPKDMPQPGPPVDISPRRPKGYELRV TIWNTEDVILEDENIFTGQKSSDIYVKGWLKGLEDDKQETDVHYNSLTGEGNFNWRFLFPFQYLPAEKQMVITKRENIFS LEKMECKTPAVLVLQVWDFERLSSDDFLGTLEMNLNSFPRAAKSAKACDLAKFENASEETKISIFQQKRVRGWWPFSKSK ELTGKVEAEFHLVTAEEAEKNPVGKARKEPEPLAKPNRPDTSFSWFMSPFKCLYYLIWKNYKKYIIIAFILIILIIFLVL FIYTLPGAISRRIVVGS*

Gene Symbol:	FER1L6
Accession:	XM_006716618
Location:	EXON
Amino Acid Prediction:	Y to H (nonsynonymous)
Amino Acid Position:	1002

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEKPSKAKKGMFGLKVKKKRNKAEKGLILANKAAKDSQGDTEALQEEPSHQEGPRGDLVHDDASIFPVPSASPKRRSKLL TKIHDGEVRSQNYQIAITITEARQLVGENIDPVVTIEIGDEKKQSTVKEGTNSPFYNEYFVFDFIGPQVHLFDKIIKISV FHHKLIGSVLIGSFKVDLGTVYNQPGHQFCNKWALLTDPGDIRTGTKGYLKCDISVMGKGDVLKTSPKTSDTEEPIEKNL LIPNGFPLERPWARFYVRLYKAEGLPKMNSSIMANVTKAFVGDSKDLVDPFVEVSFAGQMGRTTVQKNCADPVWHEQVIF KEMFPPLCRRVKIQVWDEGSMNDVALATHFIDLKKISNEQDGDKGFLPTFGPAWINLYGSPRNHSLMDDYQEMNEGFGEG VSFRGRILVEIAVEILSGRAQESKFSKALKELKLPSKDKDSKSSKGKDKADKTEDGKSQQASNKTNSTEVEVESFDVPPE IVPEKNEEFLLFGAFFEATMIDRKIGDKPISFEVSIGNFGNLIDGGSHHGSKKSAESAEEDLLPLLHEGQGDVAHDVPIP MASTTHPEKPLVTEGNRNYNYLPFEAKKPCVYFISSWGDQTFRLHWSNMLEKMADFLEESIEEVRELIKISQEAPEEKMK TVLSDFISRSSAFISEAEKKPKMLNQTTLDKKRLTLCWQELEAMCKEAKGIIQQQKKKLSVDEMIHEAQNFVEKIRFLVD EPQHTIPDVFIWMLSNNRRVAYARIASKDLLYSPVAGQMGKHCGKIKTHFLKPPGKRPAGWSVQAKVDVYLWLGSIKHAS AILDNLPVGYEAEMSSKGAGTNHPPSNLLYQEQHVFQLRAHMYQARGLIAADSNGLSDPFAKVTFLSHCQTTKIISQTLS PTWNQMLLFNDLVLHGDVKELAESPPLVVVELYDSDAVGKPEYLGATVAAPVVKLADQDYEPPRLCYHPIFCGNLSGGDL LAVFELLQVPPSGLQGLPPVEPPDITQIYPVPANIRPVLSKHRVEVLFWGVREMKKVQLLSVDRPQALIECGGQGVKSCV IQSYKNNPNFSIQADAFEVELPENELLHPPLSICVVDWRAFGRSTLVGTYTINYLKQFLCKLREPLAPITQVDGTQPGHD ISDSLTATESSGAHSSSQDPPADHIYVDVEPPPTVVPDSAQAQPAILVDVPDSSPMLEPEHTPVAQEPPKDGKPKDPRKP SRRSTKRRKRTIADESAENVIDWWSKYYASLKKAQKAKERNPKGKKGNTEAKPDEVVVDIEDGPKKKKDKMLKKKPKDDG IPNLAILQIYDGDLESEFNNFEDWVKTFELFRGKSTEDDHGLDGDRVIGKFKGSFCIYKSPQDSSSEDSGQLRIQQGIPP NHPVTVLIRVYIVAAFNLSPADPDGKSDPYIVIKLGKTEIKDRDKYIPKQLNPVFGRSFEIQATFPKESLLSILIYDHDM IGTDDLIGETKIDLENRFYSKHRAICGLQSQYEIEGYNAWRDTSKPTEILTKLCKDNKLDGPYFHPGKIQIGNQVFSGKT IFTEEDTDETVESYEHLALKVLHSWEDIPEVGCRLVPEHIETRPLYHKDKPGMEQGRLQMWVDMFPKDMPQPGPPVDISP RRPKGYELRVTIWNTEDVILEDENIFTGQKSSDIYVKGWLKGLEDDKQETDVHYNSLTGEGNFNWRFLFPFQYLPAEKQM VITKRENIFSLEKMECKTPAVLVLQVWDFERLSSDDFLGTLEMNLNSFPRAAKSAKACDLAKFENASEETKISIFQQKRV RGWWPFSKSKELTGKVEAEFHLVTAEEAEKNPVGKARKEPEPLAKPNRPDTSFSWFMSPFKCLYYLIWKNYKKYIIIAFI LIILIIFLVLFIYTLPGAISRRIVVGS*

Gene Symbol:	FER1L6
Accession:	XM_011517231
Location:	EXON
Amino Acid Prediction:	Y to H (nonsynonymous)
Amino Acid Position:	1015

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEKPSKAKYRSRSSFHPEETRKGMFGLKVKKKRNKAEKGLILANKAAKDSQGDTEALQEEPSHQEGPRGDLVHDDASIFP VPSASPKRRSKLLTKIHDGEVRSQNYQIAITITEARQLVGENIDPVVTIEIGDEKKQSTVKEGTNSPFYNEYFVFDFIGP QVHLFDKIIKISVFHHKLIGSVLIGSFKVDLGTVYNQPGHQFCNKWALLTDPGDIRTGTKGYLKCDISVMGKGDVLKTSP KTSDTEEPIEKNLLIPNGFPLERPWARFYVRLYKAEGLPKMNSSIMANVTKAFVGDSKDLVDPFVEVSFAGQMGRTTVQK NCADPVWHEQVIFKEMFPPLCRRVKIQVWDEGSMNDVALATHFIDLKKISNEQDGDKGFLPTFGPAWINLYGSPRNHSLM DDYQEMNEGFGEGVSFRGRILVEIAVEILSGRAQESKFSKALKELKLPSKDKDSKSSKGKDKADKTEDGKSQQASNKTNS TEVEVESFDVPPEIVPEKNEEFLLFGAFFEATMIDRKIGDKPISFEVSIGNFGNLIDGGSHHGSKKSAESAEEDLLPLLH EGQGDVAHDVPIPMASTTHPEKPLVTEGNRNYNYLPFEAKKPCVYFISSWGDQTFRLHWSNMLEKMADFLEESIEEVREL IKISQEAPEEKMKTVLSDFISRSSAFISEAEKKPKMLNQTTLDKKRLTLCWQELEAMCKEAKGIIQQQKKKLSVDEMIHE AQNFVEKIRFLVDEPQHTIPDVFIWMLSNNRRVAYARIASKDLLYSPVAGQMGKHCGKIKTHFLKPPGKRPAGWSVQAKV DVYLWLGSIKHASAILDNLPVGYEAEMSSKGAGTNHPPSNLLYQEQHVFQLRAHMYQARGLIAADSNGLSDPFAKVTFLS HCQTTKIISQTLSPTWNQMLLFNDLVLHGDVKELAESPPLVVVELYDSDAVGKPEYLGATVAAPVVKLADQDYEPPRLCY HPIFCGNLSGGDLLAVFELLQVPPSGLQGLPPVEPPDITQIYPVPANIRPVLSKHRVEVLFWGVREMKKVQLLSVDRPQA LIECGGQGVKSCVIQSYKNNPNFSIQADAFEVELPENELLHPPLSICVVDWRAFGRSTLVGTYTINYLKQFLCKLREPLA PITQVDGTQPGHDISDSLTATESSGAHSSSQDPPADHIYVDVEPPPTVVPDSAQAQPAILVDVPDSSPMLEPEHTPVAQE PPKDGKPKDPRKPSRRSTKRRKRTIADESAENVIDWWSKYYASLKKAQKAKERNPKGKKGNTEAKPDEVVVDIEDGPKKK KDKMLKKKPKDDGIPNLAILQIYDGDLESEFNNFEDWVKTFELFRGKSTEDDHGLDGDRVIGKFKGSFCIYKSPQDSSSE DSGQLRIQQGIPPNHPVTVLIRVYIVAAFNLSPADPDGKSDPYIVIKLGKTEIKDRDKYIPKQLNPVFGRSFEIQATFPK ESLLSILIYDHDMIGTDDLIGETKIDLENRFYSKHRAICGLQSQYEIEGYNAWRDTSKPTEILTKLCKDNKLDGPYFHPG KIQIGNQVFSGKTIFTEEDTDETVESYEHLALKVLHSWEDIPEVGCRLVPEHIETRPLYHKDKPGMEQGRLQMWVDMFPK DMPQPGPPVDISPRRPKGYELRVTIWNTEDVILEDENIFTGQKSSDIYVKGWLKGLEDDKQETDVHYNSLTGEGNFNWRF LFPFQYLPAEKQMVITKRENIFSLEKMECKTPAVLVLQVWDFERLSSDDFLGTLEMNLNSFPRAAKSAKACDLAKFENAS EETKISIFQQKRVRGWWPFSKSKELTGKVEAEFHLVTAEEAEKNPVGKARKEPEPLAKPNRPDTSFSWFMSPFKCLYYLI WKNYKKYIIIAFILIILIIFLVLFIYTLPGAISRRIVVGS*

Gene Symbol:	FER1L6
Accession:	XM_011517235
Location:	EXON
Amino Acid Prediction:	Y to H (nonsynonymous)
Amino Acid Position:	1015

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEKPSKAKYRSRSSFHPEETRKGMFGLKVKKKRNKAEKGLILANKAAKDSQGDTEALQEEPSHQEGPRGDLVHDDASIFP VPSASPKRRSKLLTKIHDGEVRSQNYQIAITITEARQLVGENIDPVVTIEIGDEKKQSTVKEGTNSPFYNEYFVFDFIGP QVHLFDKIIKISVFHHKLIGSVLIGSFKVDLGTVYNQPGHQFCNKWALLTDPGDIRTGTKGYLKCDISVMGKGDVLKTSP KTSDTEEPIEKNLLIPNGFPLERPWARFYVRLYKAEGLPKMNSSIMANVTKAFVGDSKDLVDPFVEVSFAGQMGRTTVQK NCADPVWHEQVIFKEMFPPLCRRVKIQVWDEGSMNDVALATHFIDLKKISNEQDGDKGFLPTFGPAWINLYGSPRNHSLM DDYQEMNEGFGEGVSFRGRILVEIAVEILSGRAQESKFSKALKELKLPSKDKDSKSSKGKDKADKTEDGKSQQASNKTNS TEVEVESFDVPPEIVPEKNEEFLLFGAFFEATMIDRKIGDKPISFEVSIGNFGNLIDGGSHHGSKKSAESAEEDLLPLLH EGQGDVAHDVPIPMASTTHPEKPLVTEGNRNYNYLPFEAKKPCVYFISSWGDQTFRLHWSNMLEKMADFLEESIEEVREL IKISQEAPEEKMKTVLSDFISRSSAFISEAEKKPKMLNQTTLDKKRLTLCWQELEAMCKEAKGIIQQQKKKLSVDEMIHE AQNFVEKIRFLVDEPQHTIPDVFIWMLSNNRRVAYARIASKDLLYSPVAGQMGKHCGKIKTHFLKPPGKRPAGWSVQAKV DVYLWLGSIKHASAILDNLPVGYEAEMSSKGAGTNHPPSNLLYQEQHVFQLRAHMYQARGLIAADSNGLSDPFAKVTFLS HCQTTKIISQTLSPTWNQMLLFNDLVLHGDVKELAESPPLVVVELYDSDAVGKPEYLGATVAAPVVKLADQDYEPPRLCY HPIFCGNLSGGDLLAVFELLQVPPSGLQGLPPVEPPDITQIYPVPANIRPVLSKHRVEVLFWGVREMKKVQLLSVDRPQA LIECGGQGVKSCVIQSYKNNPNFSIQADAFEVELPENELLHPPLSICVVDWRAFGRSTLVGTYTINYLKQFLCKLREPLA PITQVDGTQPGHDISDSLTATESSGAHSSSQDPPADHIYVDVEPPPTVVPDSAQAQPAILVDVPDSSPMLEPEHTPVAQE PPKDGKPKDPRKPSRRSTKRRKRTIADESAENVIDWWSKYYASLKKAQKAKERNPKGKKGNTEAKPDEVVVDIEDGPKKK KDKMLKKKPKDDGIPNLAILQIYDGDLESEFNNFEDWVKTFELFRGKSTEDDHGLDGDRVIGKFKGSFCIYKSPQDSSSE DSGQLRIQQGIPPNHPVTVLIRVYIVAAFNLSPADPDGKSDPYIVIKLGKTEIKDRDKYIPKQLNPVFGRTSFIPHNYWE STMCQAHC*

Gene Symbol:	FER1L6
Accession:	XM_011517232
Location:	EXON
Amino Acid Prediction:	Y to H (nonsynonymous)
Amino Acid Position:	992

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFGLKVKKKRNKAEKGLILANKAAKDSQGDTEALQEEPSHQEGPRGDLVHDDASIFPVPSASPKRRSKLLTKIHDGEVRS QNYQIAITITEARQLVGENIDPVVTIEIGDEKKQSTVKEGTNSPFYNEYFVFDFIGPQVHLFDKIIKISVFHHKLIGSVL IGSFKVDLGTVYNQPGHQFCNKWALLTDPGDIRTGTKGYLKCDISVMGKGDVLKTSPKTSDTEEPIEKNLLIPNGFPLER PWARFYVRLYKAEGLPKMNSSIMANVTKAFVGDSKDLVDPFVEVSFAGQMGRTTVQKNCADPVWHEQVIFKEMFPPLCRR VKIQVWDEGSMNDVALATHFIDLKKISNEQDGDKGFLPTFGPAWINLYGSPRNHSLMDDYQEMNEGFGEGVSFRGRILVE IAVEILSGRAQESKFSKALKELKLPSKDKDSKSSKGKDKADKTEDGKSQQASNKTNSTEVEVESFDVPPEIVPEKNEEFL LFGAFFEATMIDRKIGDKPISFEVSIGNFGNLIDGGSHHGSKKSAESAEEDLLPLLHEGQGDVAHDVPIPMASTTHPEKP LVTEGNRNYNYLPFEAKKPCVYFISSWGDQTFRLHWSNMLEKMADFLEESIEEVRELIKISQEAPEEKMKTVLSDFISRS SAFISEAEKKPKMLNQTTLDKKRLTLCWQELEAMCKEAKGIIQQQKKKLSVDEMIHEAQNFVEKIRFLVDEPQHTIPDVF IWMLSNNRRVAYARIASKDLLYSPVAGQMGKHCGKIKTHFLKPPGKRPAGWSVQAKVDVYLWLGSIKHASAILDNLPVGY EAEMSSKGAGTNHPPSNLLYQEQHVFQLRAHMYQARGLIAADSNGLSDPFAKVTFLSHCQTTKIISQTLSPTWNQMLLFN DLVLHGDVKELAESPPLVVVELYDSDAVGKPEYLGATVAAPVVKLADQDYEPPRLCYHPIFCGNLSGGDLLAVFELLQVP PSGLQGLPPVEPPDITQIYPVPANIRPVLSKHRVEVLFWGVREMKKVQLLSVDRPQALIECGGQGVKSCVIQSYKNNPNF SIQADAFEVELPENELLHPPLSICVVDWRAFGRSTLVGTYTINYLKQFLCKLREPLAPITQVDGTQPGHDISDSLTATES SGAHSSSQDPPADHIYVDVEPPPTVVPDSAQAQPAILVDVPDSSPMLEPEHTPVAQEPPKDGKPKDPRKPSRRSTKRRKR TIADESAENVIDWWSKYYASLKKAQKAKERNPKGKKGNTEAKPDEVVVDIEDGPKKKKDKMLKKKPKDDGIPNLAILQIY DGDLESEFNNFEDWVKTFELFRGKSTEDDHGLDGDRVIGKFKGSFCIYKSPQDSSSEDSGQLRIQQGIPPNHPVTVLIRV YIVAAFNLSPADPDGKSDPYIVIKLGKTEIKDRDKYIPKQLNPVFGRSFEIQATFPKESLLSILIYDHDMIGTDDLIGET KIDLENRFYSKHRAICGLQSQYEIEGYNAWRDTSKPTEILTKLCKDNKLDGPYFHPGKIQIGNQVFSGKTIFTEEDTDET VESYEHLALKVLHSWEDIPEVGCRLVPEHIETRPLYHKDKPGMEQGRLQMWVDMFPKDMPQPGPPVDISPRRPKGYELRV TIWNTEDVILEDENIFTGQKSSDIYVKGWLKGLEDDKQETDVHYNSLTGEGNFNWRFLFPFQYLPAEKQMVITKRENIFS LEKMECKTPAVLVLQVWDFERLSSDDFLGTLEMNLNSFPRAAKSAKACDLAKFENASEETKISIFQQKRVRGWWPFSKSK ELTGKVEAEFHLVTAEEAEKNPVGKARKEPEPLAKPNRPDTSFSWFMSPFKCLYYLIWKNYKKYIIIAFILIILIIFLVL FIYTLPGAISRRIVVGS*

Gene Symbol:	FER1L6
Accession:	XM_011517233
Location:	EXON
Amino Acid Prediction:	Y to H (nonsynonymous)
Amino Acid Position:	992

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFGLKVKKKRNKAEKGLILANKAAKDSQGDTEALQEEPSHQEGPRGDLVHDDASIFPVPSASPKRRSKLLTKIHDGEVRS QNYQIAITITEARQLVGENIDPVVTIEIGDEKKQSTVKEGTNSPFYNEYFVFDFIGPQVHLFDKIIKISVFHHKLIGSVL IGSFKVDLGTVYNQPGHQFCNKWALLTDPGDIRTGTKGYLKCDISVMGKGDVLKTSPKTSDTEEPIEKNLLIPNGFPLER PWARFYVRLYKAEGLPKMNSSIMANVTKAFVGDSKDLVDPFVEVSFAGQMGRTTVQKNCADPVWHEQVIFKEMFPPLCRR VKIQVWDEGSMNDVALATHFIDLKKISNEQDGDKGFLPTFGPAWINLYGSPRNHSLMDDYQEMNEGFGEGVSFRGRILVE IAVEILSGRAQESKFSKALKELKLPSKDKDSKSSKGKDKADKTEDGKSQQASNKTNSTEVEVESFDVPPEIVPEKNEEFL LFGAFFEATMIDRKIGDKPISFEVSIGNFGNLIDGGSHHGSKKSAESAEEDLLPLLHEGQGDVAHDVPIPMASTTHPEKP LVTEGNRNYNYLPFEAKKPCVYFISSWGDQTFRLHWSNMLEKMADFLEESIEEVRELIKISQEAPEEKMKTVLSDFISRS SAFISEAEKKPKMLNQTTLDKKRLTLCWQELEAMCKEAKGIIQQQKKKLSVDEMIHEAQNFVEKIRFLVDEPQHTIPDVF IWMLSNNRRVAYARIASKDLLYSPVAGQMGKHCGKIKTHFLKPPGKRPAGWSVQAKVDVYLWLGSIKHASAILDNLPVGY EAEMSSKGAGTNHPPSNLLYQEQHVFQLRAHMYQARGLIAADSNGLSDPFAKVTFLSHCQTTKIISQTLSPTWNQMLLFN DLVLHGDVKELAESPPLVVVELYDSDAVGKPEYLGATVAAPVVKLADQDYEPPRLCYHPIFCGNLSGGDLLAVFELLQVP PSGLQGLPPVEPPDITQIYPVPANIRPVLSKHRVEVLFWGVREMKKVQLLSVDRPQALIECGGQGVKSCVIQSYKNNPNF SIQADAFEVELPENELLHPPLSICVVDWRAFGRSTLVGTYTINYLKQFLCKLREPLAPITQVDGTQPGHDISDSLTATES SGAHSSSQDPPADHIYVDVEPPPTVVPDSAQAQPAILVDVPDSSPMLEPEHTPVAQEPPKDGKPKDPRKPSRRSTKRRKR TIADESAENVIDWWSKYYASLKKAQKAKERNPKGKKGNTEAKPDEVVVDIEDGPKKKKDKMLKKKPKDDGIPNLAILQIY DGDLESEFNNFEDWVKTFELFRGKSTEDDHGLDGDRVIGKFKGSFCIYKSPQDSSSEDSGQLRIQQGIPPNHPVTVLIRV YIVAAFNLSPADPDGKSDPYIVIKLGKTEIKDRDKYIPKQLNPVFGRSFEIQATFPKESLLSILIYDHDMIGTDDLIGET KIDLENRFYSKHRAICGLQSQYEIEGYNAWRDTSKPTEILTKLCKDNKLDGPYFHPGKIQIGNQVFSGKTIFTEEDTDET VESYEHLALKVLHSWEDIPEVGCRLVPEHIETRPLYHKDKPGMEQGRLQMWVDMFPKDMPQPGPPVDISPRRPKGYELRV TIWNTEDVILEDENIFTGQKSSDIYVKGWLKGLEDDKQETDVHYNSLTGEGNFNWRFLFPFQYLPAEKQMVITKRENIFS LEKMECKTPAVLVLQVWDFERLSSDDFLGTLEMNLNSFPRAAKSAKACDLAKFENASEETKISIFQQKRVRGWWPFSKSK ELTGKVEAEFHLVTAEEAEKNPVGKARKEPEPLAKPNRPDTSFSWFMSPFKCLYYLIWKNYKKYIIIAFILIILIIFLVL FIYTLPGAISRRIVVGS*

Gene Symbol:	FER1L6
Accession:	XM_011517236
Location:	EXON
Amino Acid Prediction:	Y to H (nonsynonymous)
Amino Acid Position:	132

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDIIISQTLSPTWNQMLLFNDLVLHGDVKELAESPPLVVVELYDSDAVGKPEYLGATVAAPVVKLADQDYEPPRLCYHPI FCGNLSGGDLLAVFELLQVPPSGLQGLPPVEPPDITQIYPVPANIRPVLSKHRVEVLFWGVREMKKVQLLSVDRPQALIE CGGQGVKSCVIQSYKNNPNFSIQADAFEVELPENELLHPPLSICVVDWRAFGRSTLVGTYTINYLKQFLCKLREPLAPIT QVDGTQPGHDISDSLTATESSGAHSSSQDPPADHIYVDVEPPPTVVPDSAQAQPAILVDVPDSSPMLEPEHTPVAQEPPK DGKPKDPRKPSRRSTKRRKRTIADESAENVIDWWSKYYASLKKAQKAKERNPKGKKGNTEAKPDEVVVDIEDGPKKKKDK MLKKKPKDDGIPNLAILQIYDGDLESEFNNFEDWVKTFELFRGKSTEDDHGLDGDRVIGKFKGSFCIYKSPQDSSSEDSG QLRIQQGIPPNHPVTVLIRVYIVAAFNLSPADPDGKSDPYIVIKLGKTEIKDRDKYIPKQLNPVFGRSFEIQATFPKESL LSILIYDHDMIGTDDLIGETKIDLENRFYSKHRAICGLQSQYEIEGYNAWRDTSKPTEILTKLCKDNKLDGPYFHPGKIQ IGNQVFSGKTIFTEEDTDETVESYEHLALKVLHSWEDIPEVGCRLVPEHIETRPLYHKDKPGMEQGRLQMWVDMFPKDMP QPGPPVDISPRRPKGYELRVTIWNTEDVILEDENIFTGQKSSDIYVKGWLKGLEDDKQETDVHYNSLTGEGNFNWRFLFP FQYLPAEKQMVITKRENIFSLEKMECKTPAVLVLQVWDFERLSSDDFLGTLEMNLNSFPRAAKSAKACDLAKFENASEET KISIFQQKRVRGWWPFSKSKELTGKVEAEFHLVTAEEAEKNPVGKARKEPEPLAKPNRPDTSFSWFMSPFKCLYYLIWKN YKKYIIIAFILIILIIFLVLFIYTLPGAISRRIVVGS*

Gene Symbol:	FER1L6
Accession:	XM_047422118
Location:	EXON
Amino Acid Prediction:	Y to H (nonsynonymous)
Amino Acid Position:	117

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLLFNDLVLHGDVKELAESPPLVVVELYDSDAVGKPEYLGATVAAPVVKLADQDYEPPRLCYHPIFCGNLSGGDLLAVFE LLQVPPSGLQGLPPVEPPDITQIYPVPANIRPVLSKHRVEVLFWGVREMKKVQLLSVDRPQALIECGGQGVKSCVIQSYK NNPNFSIQADAFEVELPENELLHPPLSICVVDWRAFGRSTLVGTYTINYLKQFLCKLREPLAPITQVDGTQPGHDISDSL TATESSGAHSSSQDPPADHIYVDVEPPPTVVPDSAQAQPAILVDVPDSSPMLEPEHTPVAQEPPKDGKPKDPRKPSRRST KRRKRTIADESAENVIDWWSKYYASLKKAQKAKERNPKGKKGNTEAKPDEVVVDIEDGPKKKKDKMLKKKPKDDGIPNLA ILQIYDGDLESEFNNFEDWVKTFELFRGKSTEDDHGLDGDRVIGKFKGSFCIYKSPQDSSSEDSGQLRIQQGIPPNHPVT VLIRVYIVAAFNLSPADPDGKSDPYIVIKLGKTEIKDRDKYIPKQLNPVFGRSFEIQATFPKESLLSILIYDHDMIGTDD LIGETKIDLENRFYSKHRAICGLQSQYEIEGYNAWRDTSKPTEILTKLCKDNKLDGPYFHPGKIQIGNQVFSGKTIFTEE DTDETVESYEHLALKVLHSWEDIPEVGCRLVPEHIETRPLYHKDKPGMEQGRLQMWVDMFPKDMPQPGPPVDISPRRPKG YELRVTIWNTEDVILEDENIFTGQKSSDIYVKGWLKGLEDDKQETDVHYNSLTGEGNFNWRFLFPFQYLPAEKQMVITKR ENIFSLEKMECKTPAVLVLQVWDFERLSSDDFLGTLEMNLNSFPRAAKSAKACDLAKFENASEETKISIFQQKRVRGWWP FSKSKELTGKVEAEFHLVTAEEAEKNPVGKARKEPEPLAKPNRPDTSFSWFMSPFKCLYYLIWKNYKKYIIIAFILIILI IFLVLFIYTLPGAISRRIVVGS*

Gene Symbol:	FER1L6
Accession:	XM_047422117
Location:	EXON
Amino Acid Prediction:	Y to H (nonsynonymous)
Amino Acid Position:	117

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLLFNDLVLHGDVKELAESPPLVVVELYDSDAVGKPEYLGATVAAPVVKLADQDYEPPRLCYHPIFCGNLSGGDLLAVFE LLQVPPSGLQGLPPVEPPDITQIYPVPANIRPVLSKHRVEVLFWGVREMKKVQLLSVDRPQALIECGGQGVKSCVIQSYK NNPNFSIQADAFEVELPENELLHPPLSICVVDWRAFGRSTLVGTYTINYLKQFLCKLREPLAPITQVDGTQPGHDISDSL TATESSGAHSSSQDPPADHIYVDVEPPPTVVPDSAQAQPAILVDVPDSSPMLEPEHTPVAQEPPKDGKPKDPRKPSRRST KRRKRTIADESAENVIDWWSKYYASLKKAQKAKERNPKGKKGNTEAKPDEVVVDIEDGPKKKKDKMLKKKPKDDGIPNLA ILQIYDGDLESEFNNFEDWVKTFELFRGKSTEDDHGLDGDRVIGKFKGSFCIYKSPQDSSSEDSGQLRIQQGIPPNHPVT VLIRVYIVAAFNLSPADPDGKSDPYIVIKLGKTEIKDRDKYIPKQLNPVFGRSFEIQATFPKESLLSILIYDHDMIGTDD LIGETKIDLENRFYSKHRAICGLQSQYEIEGYNAWRDTSKPTEILTKLCKDNKLDGPYFHPGKIQIGNQVFSGKTIFTEE DTDETVESYEHLALKVLHSWEDIPEVGCRLVPEHIETRPLYHKDKPGMEQGRLQMWVDMFPKDMPQPGPPVDISPRRPKG YELRVTIWNTEDVILEDENIFTGQKSSDIYVKGWLKGLEDDKQETDVHYNSLTGEGNFNWRFLFPFQYLPAEKQMVITKR ENIFSLEKMECKTPAVLVLQVWDFERLSSDDFLGTLEMNLNSFPRAAKSAKACDLAKFENASEETKISIFQQKRVRGWWP FSKSKELTGKVEAEFHLVTAEEAEKNPVGKARKEPEPLAKPNRPDTSFSWFMSPFKCLYYLIWKNYKKYIIIAFILIILI IFLVLFIYTLPGAISRRIVVGS*

Gene Symbol:	FER1L6-AS2
Accession:	NR_103547
Location:	EXON;NON-CODING

Gene Symbol:	FER1L6
Accession:	XR_928347
Location:	EXON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV004137358	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	FER1L6	CLINVAR
	FER1L6-AS2	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:155988004 - Homo sapiens