rs537530231 Rat Genome Database

rs537530231 Rat Genome Database

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Variant: rs537530231 - Homo sapiens

RGD ID:

13820407

RS ID:

rs537530231

ClinVar ID:

CV563459

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

T

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	6	158,541,539
GRCh38	6	158,120,507

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NG_032889.1:g.52774A>T NC_000006.12:g.158120507T>A NC_000006.11:g.158541539T>A NP_116250.3:p.Ile362Phe More...	11/21/2022	missense variant	uncertain significance	3-METHYLGLUTACONIC ACIDURIA, TYPE VI; MEGDEL syndrome

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV563459	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
CV563459	Human	genetic disease		IAGP		8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:28492532

Gene Symbol:	SERAC1
Accession:	NM_032861
Location:	EXON
Amino Acid Prediction:	I to F (nonsynonymous)
Amino Acid Position:	362

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

Gene Symbol:	SERAC1
Accession:	XM_006715586
Location:	EXON
Amino Acid Prediction:	I to F (nonsynonymous)
Amino Acid Position:	292

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

Gene Symbol:	SERAC1
Accession:	XM_011536198
Location:	EXON
Amino Acid Prediction:	I to F (nonsynonymous)
Amino Acid Position:	292

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

Gene Symbol:	SERAC1
Accession:	XM_024446573
Location:	EXON
Amino Acid Prediction:	I to F (nonsynonymous)
Amino Acid Position:	362

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

Gene Symbol:	SERAC1
Accession:	XM_047419421
Location:	EXON
Amino Acid Prediction:	I to F (nonsynonymous)
Amino Acid Position:	355

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

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

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

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000694845	CLINVAR
	RCV004025221	CLINVAR
dbSNP (RS)	rs537530231	CLINVAR
MedGen	C0950123	CLINVAR
	C4040739	CLINVAR
NCBI Gene	SERAC1	CLINVAR
OMIM	614725	CLINVAR
	614739	CLINVAR