rs757289914 Rat Genome Database

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Variant: rs757289914 - Homo sapiens

RGD ID:

14708143

RS ID:

rs757289914

ClinVar ID:

CV640603

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

MVK

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	12	110,024,590
GRCh38	12	109,586,785

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
NC_000012.11:g.110024590T>G NP_001107657.1:p.Ile221Met LRG_156:g.18091T>G NM_001301182.2:c.507T>G More...	10/25/2021	missense variant	uncertain significance	Hyperimmunoglobulin D with periodic fever; Hyperimmunoglobulinemia D; Hyperimmunoglobulinemia D and periodic fever syndrome; Hyperimmunoglobulinemia D with periodic fever; Periodic fever Dutch type; POROKERATOSIS 3, DISSEMINATED SUPERFICIAL ACTINIC TYPE; POROKERATOSIS 3, MIBELLI TYPE; POROKERATOSIS 3, MULTIPLE TYPES; POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1

Disease Annotations Click to see Annotation Detail View

genetic disease (IAGP)

mevalonic aciduria (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	MVK
Accession:	XM_017019314
Location:	EXON
Amino Acid Prediction:	I to M (nonsynonymous)
Amino Acid Position:	221

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSEVLLVSAPGKVILHGEHAVVHGKVALAVSLNLRTFLRLQPHSNGKVDLSLPNIGIKRAWDVARLQSLDTSFLEQGDV TTPTSEQVEKLKEVAGLPDDCAVTERLAVLAFLYLYLSICRKQRALPSLDIVVWSELPPGAGLGSSAAYSVCLAAALLTV CEEIPNPLKDGDCVNRWTKEDLELINKWAFQGERMIHGNPSGVDNAVSTWGGALRYHQGKMSSLKRSPALQILLTNTKVP RNTRALVAGVRNRLLKFPEIVAPLLTSIDAISLECERVLGEMGEAPAPEQYLVLEELIDMNQHHLNALGVGHASLDQLCQ VTRARGLHSKLTGAGGGGCGITLLKPGLEQPEVEATKQALTSCGFDCLETSIGAPGVSIHSATSLDSRVQQALDGL*

Gene Symbol:	MVK
Accession:	NM_001301182
Location:	EXON
Amino Acid Prediction:	I to M (nonsynonymous)
Amino Acid Position:	169

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSEVLLVSAPGKVILHGEHAVVHGKVALAVSLNLRTFLRLQPHSNGKVDLSLPNIGIKRAWDVARLQSLDTSFLEQGDV TTPTSEQVEKLKEVAGLPDDCAVTERLAVLAFLYLYLSICRKQRWTKEDLELINKWAFQGERMIHGNPSGVDNAVSTWGG ALRYHQGKMSSLKRSPALQILLTNTKVPRNTRALVAGVRNRLLKFPEIVAPLLTSIDAISLECERVLGEMGEAPAPEQYL VLEELIDMNQHHLNALGVGHASLDQLCQVTRARGLHSKLTGAGGGGCGITLLKPGLEQPEVEATKQALTSCGFDCLETSI GAPGVSIHSATSLDSRVQQALDGL*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	I to M (nonsynonymous)
Amino Acid Position:	27

Amino Acid Sequence (Calculated using NCBI transcript definition)
MIHGNPSGVDNAVSTWGGALRYHQGKMSSLKRSPALQILLTNTKVPRNTRALVAGVRNRLLKFPEIVAPLLTSIDAISLE CERVLGEMGEAPAPEQYLVLEELIDMNQHHLNALGVGHASLDQLCQVTRARGLHSKLTGAGGGGCGITLLKPGLEQPEVE ATKQALTSCGFDCLETSIGAPGVSIHSATSLDSRVQQALDGL*

Gene Symbol:	MVK
Accession:	NM_001414511
Location:	EXON
Amino Acid Prediction:	I to M (nonsynonymous)
Amino Acid Position:	221

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSEVLLVSAPGKVILHGEHAVVHGKVALAVSLNLRTFLRLQPHSNGKVDLSLPNIGIKRAWDVARLQSLDTSFLEQGDV TTPTSEQVEKLKEVAGLPDDCAVTERLAVLAFLYLYLSICRKQRALPSLDIVVWSELPPGAGLGSSAAYSVCLAAALLTV CEEIPNPLKDGDCVNRWTKEDLELINKWAFQGERMIHGNPSGVDNAVSTWGGALRYHQGKMSSLKRSPALQILLTNTKVP RNTRALVAGVRNRLLKFPEIVAPLLTSIDAISLECERVLGEMGEAPAPEQYLVLEELIDMNQHHLNALGVGHASLDQLCQ VTRARGLHSKLTGAGGGGCGITLLKPGLEQPEVEATKQALTSCGFDCLETSIGAPGVSIHSATSLDSRVQQALDGL*

Gene Symbol:	MVK
Accession:	NM_001414513
Location:	EXON
Amino Acid Prediction:	I to M (nonsynonymous)
Amino Acid Position:	221

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSEVLLVSAPGKVILHGEHAVVHGKVALAVSLNLRTFLRLQPHSNGKVDLSLPNIGIKRAWDVARLQSLDTSFLEQGDV TTPTSEQVEKLKEVAGLPDDCAVTERLAVLAFLYLYLSICRKQRALPSLDIVVWSELPPGAGLGSSAAYSVCLAAALLTV CEEIPNPLKDGDCVNRWTKEDLELINKWAFQGERMIHGNPSGVDNAVSTWGGALRYHQGKMSSLKRSPALQILLTNTKVP RNTRALVAGVRNRLLKFPEIVAPLLTSIDAISLECERVLGEMGEAPAPEQYLVLEELIDMNQHHLNALGVGHASLDQLCQ VTRARGLHSKLTGAGGGGCGITLLKPGIPGGWSSQKWRPRSRP*

Gene Symbol:	MVK
Accession:	NM_001414512
Location:	EXON
Amino Acid Prediction:	I to M (nonsynonymous)
Amino Acid Position:	221

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSEVLLVSAPGKVILHGEHAVVHGKVALAVSLNLRTFLRLQPHSNGKVDLSLPNIGIKRAWDVARLQSLDTSFLEQGDV TTPTSEQVEKLKEVAGLPDDCAVTERLAVLAFLYLYLSICRKQRALPSLDIVVWSELPPGAGLGSSAAYSVCLAAALLTV CEEIPNPLKDGDCVNRWTKEDLELINKWAFQGERMIHGNPSGVDNAVSTWGGALRYHQGKMSSLKSKQESITSCVPDDAA LGRRNGEMKLGSPALQILLTNTKVPRNTRALVAGVRNRLLKFPEIVAPLLTSIDAISLECERVLGEMGEAPAPEQYLVLE ELIDMNQHHLNALGVGHASLDQLCQVTRARGLHSKLTGAGGGGCGITLLKPGLEQPEVEATKQALTSCGFDCLETSIGAP GVSIHSATSLDSRVQQALDGL*

Gene Symbol:	MVK
Accession:	NM_001414514
Location:	EXON
Amino Acid Prediction:	I to M (nonsynonymous)
Amino Acid Position:	169

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSEVLLVSAPGKVILHGEHAVVHGKVALAVSLNLRTFLRLQPHSNGKVDLSLPNIGIKRAWDVARLQSLDTSFLEQGDV TTPTSEQVEKLKEVAGLPDDCAVTERLAVLAFLYLYLSICRKQRWTKEDLELINKWAFQGERMIHGNPSGVDNAVSTWGG ALRYHQGKMSSLKRSPALQILLTNTKVPRNTRALVAGVRNRLLKFPEIVAPLLTSIDAISLECERVLGEMGEAPAPEQYL VLEELIDMNQHHLNALGVGHASLDQLCQVTRARGLHSKLTGAGGGGCGITLLKPGIPGGWSSQKWRPRSRP*

Gene Symbol:	MVK
Accession:	NM_000431
Location:	EXON
Amino Acid Prediction:	I to M (nonsynonymous)
Amino Acid Position:	221

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSEVLLVSAPGKVILHGEHAVVHGKVALAVSLNLRTFLRLQPHSNGKVDLSLPNIGIKRAWDVARLQSLDTSFLEQGDV TTPTSEQVEKLKEVAGLPDDCAVTERLAVLAFLYLYLSICRKQRALPSLDIVVWSELPPGAGLGSSAAYSVCLAAALLTV CEEIPNPLKDGDCVNRWTKEDLELINKWAFQGERMIHGNPSGVDNAVSTWGGALRYHQGKMSSLKRSPALQILLTNTKVP RNTRALVAGVRNRLLKFPEIVAPLLTSIDAISLECERVLGEMGEAPAPEQYLVLEELIDMNQHHLNALGVGHASLDQLCQ VTRARGLHSKLTGAGGGGCGITLLKPGLEQPEVEATKQALTSCGFDCLETSIGAPGVSIHSATSLDSRVQQALDGL*

Gene Symbol:	MVK
Accession:	XM_017019313
Location:	EXON
Amino Acid Prediction:	I to M (nonsynonymous)
Amino Acid Position:	169

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSEVLLVSAPGKVILHGEHAVVHGKVALAVSLNLRTFLRLQPHSNGKVDLSLPNIGIKRAWDVARLQSLDTSFLEQGDV TTPTSEQVEKLKEVAGLPDDCAVTERLAVLAFLYLYLSICRKQRWTKEDLELINKWAFQGERMIHGNPSGVDNAVSTWGG ALRYHQGKMSSLKRSPALQILLTNTKVPRNTRALVAGVRNRLLKFPEIVAPLLTSIDAISLECERVLGEMGEAPAPEQYL VLEELIDMNQHHLNALGVGHASLDQLCQVTRARGLHSKLTGAGGGGCGITLLKPGLEQPEVEATKQALTSCGFDCLETSI GAPGVSIHSATSLDSRVQQALDGL*

Gene Symbol:	MVK
Accession:	NM_001114185
Location:	EXON
Amino Acid Prediction:	I to M (nonsynonymous)
Amino Acid Position:	221

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSEVLLVSAPGKVILHGEHAVVHGKVALAVSLNLRTFLRLQPHSNGKVDLSLPNIGIKRAWDVARLQSLDTSFLEQGDV TTPTSEQVEKLKEVAGLPDDCAVTERLAVLAFLYLYLSICRKQRALPSLDIVVWSELPPGAGLGSSAAYSVCLAAALLTV CEEIPNPLKDGDCVNRWTKEDLELINKWAFQGERMIHGNPSGVDNAVSTWGGALRYHQGKMSSLKRSPALQILLTNTKVP RNTRALVAGVRNRLLKFPEIVAPLLTSIDAISLECERVLGEMGEAPAPEQYLVLEELIDMNQHHLNALGVGHASLDQLCQ VTRARGLHSKLTGAGGGGCGITLLKPGLEQPEVEATKQALTSCGFDCLETSIGAPGVSIHSATSLDSRVQQALDGL*

Gene Symbol:	MVK
Accession:	XM_047428873
Location:	EXON
Amino Acid Prediction:	I to M (nonsynonymous)
Amino Acid Position:	321

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATTPRFTAGVRVALPASHSPVPVFHALRAAALETGIQEPGGAEAPAQAKTAPQAKTAPQAAHSHEPGCLTGPDPARFPS SPRGDSTHSWPRHRSGFPGAMLSEVLLVSAPGKVILHGEHAVVHGKVALAVSLNLRTFLRLQPHSNGKVDLSLPNIGIKR AWDVARLQSLDTSFLEQGDVTTPTSEQVEKLKEVAGLPDDCAVTERLAVLAFLYLYLSICRKQRALPSLDIVVWSELPPG AGLGSSAAYSVCLAAALLTVCEEIPNPLKDGDCVNRWTKEDLELINKWAFQGERMIHGNPSGVDNAVSTWGGALRYHQGK MSSLKRSPALQILLTNTKVPRNTRALVAGVRNRLLKFPEIVAPLLTSIDAISLECERVLGEMGEAPAPEQYLVLEELIDM NQHHLNALGVGHASLDQLCQVTRARGLHSKLTGAGGGGCGITLLKPGLEQPEVEATKQALTSCGFDCLETSIGAPGVSIH SATSLDSRVQQALDGL*

Gene Symbol:	MVK
Accession:	NM_001414515
Location:	EXON
Amino Acid Prediction:	I to M (nonsynonymous)
Amino Acid Position:	27

Amino Acid Sequence (Calculated using NCBI transcript definition)
MIHGNPSGVDNAVSTWGGALRYHQGKMSSLKRSPALQILLTNTKVPRNTRALVAGVRNRLLKFPEIVAPLLTSIDAISLE CERVLGEMGEAPAPEQYLVLEELIDMNQHHLNALGVGHASLDQLCQVTRARGLHSKLTGAGGGGCGITLLKPGLEQPEVE ATKQALTSCGFDCLETSIGAPGVSIHSATSLDSRVQQALDGL*

Gene Symbol:	MVK
Accession:	NR_182758
Location:	EXON;NON-CODING

Gene Symbol:	MVK
Accession:	NR_182759
Location:	EXON;NON-CODING

Gene Symbol:	MVK
Accession:	NR_182762
Location:	EXON;NON-CODING

Gene Symbol:	MVK
Accession:	NR_182760
Location:	EXON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:25741868	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000792517	CLINVAR
	RCV002535874	CLINVAR
dbSNP (RS)	rs757289914	CLINVAR
MedGen	C0950123	CLINVAR
	C1959626	CLINVAR
NCBI Gene	MVK	CLINVAR
OMIM	175900	CLINVAR
	251170	CLINVAR
	260920	CLINVAR
	610377	CLINVAR
SNOMED CT	234538002	CLINVAR

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InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

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MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: rs757289914 - Homo sapiens

Imported Disease Annotations - ClinVar