rs1020569740 Rat Genome Database

rs1020569740 Rat Genome Database

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Variant: rs1020569740 - Homo sapiens

RGD ID:

14727885

RS ID:

rs1020569740

ClinVar ID:

CV634748

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	6	158,534,544
GRCh38	6	158,113,512

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_032861.4:c.1765G>A NG_032889.1:g.59769G>A NC_000006.12:g.158113512C>T NC_000006.11:g.158534544C>T More...	08/20/2018	missense variant	uncertain significance	3-METHYLGLUTACONIC ACIDURIA, TYPE VI; MEGDEL syndrome

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV634748	Human	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome		IAGP		8554872	ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	ClinVar	PMID:28492532

Gene Symbol:	SERAC1
Accession:	NM_032861
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	589

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSLAAYCVICCRRIGTSTSPPKSGTHWRDIRNIIKFTGSLILGGSLFLTYEVLALKKAVTLDTQVVEREKMKSYIYVHTV SLDKGENHGIAWQARKELHKAVRKVLATSAKILRNPFADPFSTVDIEDHECAVWLLLRKSKSDDKTTRLEAVREMSETHH WHDYQYRIIAQACDPKTLIGLARSEESDLRFFLLPPPLPSLKEDSSTEEELRQLLASLPQTELDECIQYFTSLALSESSQ SLAAQKGGLWCFGGNGLPYAESFGEVPSATVEMFCLEAIVKHSEISTHCDKIEANGGLQLLQRLYRLHKDCPKVQRNIMR VIGNMALNEHLHSSIVRSGWVSIMAEAMKSPHIMESSHAARILANLDRETVQEKYQDGVYVLHPQYRTSQPIKADVLFIH GLMGAAFKTWRQQDSEQAVIEKPMEDEDRYTTCWPKTWLAKDCPALRIISVEYDTSLSDWRARCPMERKSIAFRSNELLR KLRAAGVGDRPVVWISHSMGGLLVKKMLLEASTKPEMSTVINNTRGIIFYSVPHHGSRLAEYSVNIRYLLFPSLEVKELS KDSPALKTLQDDFLEFAKDKNFQVLNFVKTLPTYIGSMIKLHVVPVESADLGIGDLIPVDVNHLNICKPKKKDAFLYQRT LQFIREALAKDLEN*

Gene Symbol:	SERAC1
Accession:	XM_006715586
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	519

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKSYIYVHTVSLDKGENHGIAWQARKELHKAVRKVLATSAKILRNPFADPFSTVDIEDHECAVWLLLRKSKSDDKTTRLE AVREMSETHHWHDYQYRIIAQACDPKTLIGLARSEESDLRFFLLPPPLPSLKEDSSTEEELRQLLASLPQTELDECIQYF TSLALSESSQSLAAQKGGLWCFGGNGLPYAESFGEVPSATVEMFCLEAIVKHSEISTHCDKIEANGGLQLLQRLYRLHKD CPKVQRNIMRVIGNMALNEHLHSSIVRSGWVSIMAEAMKSPHIMESSHAARILANLDRETVQEKYQDGVYVLHPQYRTSQ PIKADVLFIHGLMGAAFKTWRQQDSEQAVIEKPMEDEDRYTTCWPKTWLAKDCPALRIISVEYDTSLSDWRARCPMERKS IAFRSNELLRKLRAAGVGDRPVVWISHSMGGLLVKKMLLEASTKPEMSTVINNTRGIIFYSVPHHGSRLAEYSVNIRYLL FPSLEVKELSKDSPALKTLQDDFLEFAKDKNFQVLNFVKTLPTYIGSMIKLHVVPVESADLGIGDLIPVDVNHLNICKPK KKDAFLYQRTLQFIREALAKDLEN*

Gene Symbol:	SERAC1
Accession:	XM_011536198
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	519

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKSYIYVHTVSLDKGENHGIAWQARKELHKAVRKVLATSAKILRNPFADPFSTVDIEDHECAVWLLLRKSKSDDKTTRLE AVREMSETHHWHDYQYRIIAQACDPKTLIGLARSEESDLRFFLLPPPLPSLKEDSSTEEELRQLLASLPQTELDECIQYF TSLALSESSQSLAAQKGGLWCFGGNGLPYAESFGEVPSATVEMFCLEAIVKHSEISTHCDKIEANGGLQLLQRLYRLHKD CPKVQRNIMRVIGNMALNEHLHSSIVRSGWVSIMAEAMKSPHIMESSHAARILANLDRETVQEKYQDGVYVLHPQYRTSQ PIKADVLFIHGLMGAAFKTWRQQDSEQAVIEKPMEDEDRYTTCWPKTWLAKDCPALRIISVEYDTSLSDWRARCPMERKS IAFRSNELLRKLRAAGVGDRPVVWISHSMGGLLVKKMLLEASTKPEMSTVINNTRGIIFYSVPHHGSRLAEYSVNIRYLL FPSLEVKELSKDSPALKTLQDDFLEFAKDKNFQVLNFVKTLPTYIGSMIKLHVVPVESADLGIGDLIPVDVNHLNICKPK KKDAFLYQRTLQFIREALAKDLEN*

Gene Symbol:	SERAC1
Accession:	XM_024446573
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	589

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSLAAYCVICCRRIGTSTSPPKSGTHWRDIRNIIKFTGSLILGGSLFLTYEVLALKKAVTLDTQVVEREKMKSYIYVHTV SLDKGENHGIAWQARKELHKAVRKVLATSAKILRNPFADPFSTVDIEDHECAVWLLLRKSKSDDKTTRLEAVREMSETHH WHDYQYRIIAQACDPKTLIGLARSEESDLRFFLLPPPLPSLKEDSSTEEELRQLLASLPQTELDECIQYFTSLALSESSQ SLAAQKGGLWCFGGNGLPYAESFGEVPSATVEMFCLEAIVKHSEISTHCDKIEANGGLQLLQRLYRLHKDCPKVQRNIMR VIGNMALNEHLHSSIVRSGWVSIMAEAMKSPHIMESSHAARILANLDRETVQEKYQDGVYVLHPQYRTSQPIKADVLFIH GLMGAAFKTWRQQDSEQAVIEKPMEDEDRYTTCWPKTWLAKDCPALRIISVEYDTSLSDWRARCPMERKSIAFRSNELLR KLRAAGVGDRPVVWISHSMGGLLVKKMLLEASTKPEMSTVINNTRGIIFYSVPHHGSRLAEYSVNIRYLLFPSLEVKELS KDSPALKTLQDDFLEFAKDKNFQVLNFVKTLPTYIGSMIKLHVVPVESADLGIGDLIPVDVNHLNICKPKKKDAFLYQRT LQFIREALAKDLEN*

Gene Symbol:	SERAC1
Accession:	XM_047419421
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	582

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQETKNVPGCLLRHLLQKNRNLYFPTKKWHTLERYQGSLFLTYEVLALKKAVTLDTQVVEREKMKSYIYVHTVSLDKGEN HGIAWQARKELHKAVRKVLATSAKILRNPFADPFSTVDIEDHECAVWLLLRKSKSDDKTTRLEAVREMSETHHWHDYQYR IIAQACDPKTLIGLARSEESDLRFFLLPPPLPSLKEDSSTEEELRQLLASLPQTELDECIQYFTSLALSESSQSLAAQKG GLWCFGGNGLPYAESFGEVPSATVEMFCLEAIVKHSEISTHCDKIEANGGLQLLQRLYRLHKDCPKVQRNIMRVIGNMAL NEHLHSSIVRSGWVSIMAEAMKSPHIMESSHAARILANLDRETVQEKYQDGVYVLHPQYRTSQPIKADVLFIHGLMGAAF KTWRQQDSEQAVIEKPMEDEDRYTTCWPKTWLAKDCPALRIISVEYDTSLSDWRARCPMERKSIAFRSNELLRKLRAAGV GDRPVVWISHSMGGLLVKKMLLEASTKPEMSTVINNTRGIIFYSVPHHGSRLAEYSVNIRYLLFPSLEVKELSKDSPALK TLQDDFLEFAKDKNFQVLNFVKTLPTYIGSMIKLHVVPVESADLGIGDLIPVDVNHLNICKPKKKDAFLYQRTLQFIREA LAKDLEN*

Gene Symbol:	SERAC1
Accession:	NR_073096
Location:	INTRON;NON-CODING

Gene Symbol:	SERAC1
Accession:	XR_007059349
Location:	INTRON;NON-CODING

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000799821	CLINVAR
dbSNP (RS)	rs1020569740	CLINVAR
MedGen	C4040739	CLINVAR
NCBI Gene	SERAC1	CLINVAR
OMIM	614725	CLINVAR
	614739	CLINVAR