rs104895380 Rat Genome Database

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Variant: rs104895380 - Homo sapiens

RGD ID:

8644119

RS ID:

rs104895380

ClinVar ID:

CV103463

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

MVK

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	12	110,034,347
GRCh38	12	109,596,542

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	Age of Onset	Trait Synonyms
LRG_156t1:c.1156G>A LRG_156:g.27848G>A NG_007702.1:g.27848G>A NC_000012.12:g.109596542G>A More...	09/20/2023	missense\|missense variant	benign\|likely benign\|conflicting interpretations of pathogenicity\|not provided	neonatal/infancy	Hyperimmunoglobulin D with periodic fever; Hyperimmunoglobulinemia D; Hyperimmunoglobulinemia D and periodic fever syndrome; Hyperimmunoglobulinemia D with periodic fever; none provided; 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

Chediak-Higashi syndrome (IAGP)

hyperimmunoglobulinemia D periodic fever syndrome (IAGP)

mevalonic aciduria (IAGP)

Porokeratosis 3, Multiple Types (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	MVK
Accession:	NM_001414513
Location:	3UTRS;EXON

Gene Symbol:	MVK
Accession:	NM_001414514
Location:	3UTRS;EXON

Gene Symbol:	MVK
Accession:	NM_001301182
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	334

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSEVLLVSAPGKVILHGEHAVVHGKVALAVSLNLRTFLRLQPHSNGKVDLSLPNIGIKRAWDVARLQSLDTSFLEQGDV TTPTSEQVEKLKEVAGLPDDCAVTERLAVLAFLYLYLSICRKQRWTKEDLELINKWAFQGERMIHGNPSGVDNAVSTWGG ALRYHQGKISSLKRSPALQILLTNTKVPRNTRALVAGVRNRLLKFPEIVAPLLTSIDAISLECERVLGEMGEAPAPEQYL VLEELIDMNQHHLNALGVGHASLDQLCQVTRARGLHSKLTGAGGGGCGITLLKPGLEQPEVEATKQALTSCGFDCLETSI GAPGVSIHSATSLNSRVQQALDGL*

Gene Symbol:	MVK
Accession:	NM_000431
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	386

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSEVLLVSAPGKVILHGEHAVVHGKVALAVSLNLRTFLRLQPHSNGKVDLSLPNIGIKRAWDVARLQSLDTSFLEQGDV TTPTSEQVEKLKEVAGLPDDCAVTERLAVLAFLYLYLSICRKQRALPSLDIVVWSELPPGAGLGSSAAYSVCLAAALLTV CEEIPNPLKDGDCVNRWTKEDLELINKWAFQGERMIHGNPSGVDNAVSTWGGALRYHQGKISSLKRSPALQILLTNTKVP RNTRALVAGVRNRLLKFPEIVAPLLTSIDAISLECERVLGEMGEAPAPEQYLVLEELIDMNQHHLNALGVGHASLDQLCQ VTRARGLHSKLTGAGGGGCGITLLKPGLEQPEVEATKQALTSCGFDCLETSIGAPGVSIHSATSLNSRVQQALDGL*

Gene Symbol:	MVK
Accession:	NM_001414511
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	386

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSEVLLVSAPGKVILHGEHAVVHGKVALAVSLNLRTFLRLQPHSNGKVDLSLPNIGIKRAWDVARLQSLDTSFLEQGDV TTPTSEQVEKLKEVAGLPDDCAVTERLAVLAFLYLYLSICRKQRALPSLDIVVWSELPPGAGLGSSAAYSVCLAAALLTV CEEIPNPLKDGDCVNRWTKEDLELINKWAFQGERMIHGNPSGVDNAVSTWGGALRYHQGKISSLKRSPALQILLTNTKVP RNTRALVAGVRNRLLKFPEIVAPLLTSIDAISLECERVLGEMGEAPAPEQYLVLEELIDMNQHHLNALGVGHASLDQLCQ VTRARGLHSKLTGAGGGGCGITLLKPGLEQPEVEATKQALTSCGFDCLETSIGAPGVSIHSATSLNSRVQQALDGL*

Gene Symbol:	MVK
Accession:	XM_047428873
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	486

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

Gene Symbol:	MVK
Accession:	NM_001414512
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	411

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSEVLLVSAPGKVILHGEHAVVHGKVALAVSLNLRTFLRLQPHSNGKVDLSLPNIGIKRAWDVARLQSLDTSFLEQGDV TTPTSEQVEKLKEVAGLPDDCAVTERLAVLAFLYLYLSICRKQRALPSLDIVVWSELPPGAGLGSSAAYSVCLAAALLTV CEEIPNPLKDGDCVNRWTKEDLELINKWAFQGERMIHGNPSGVDNAVSTWGGALRYHQGKISSLKSKQESITSCVPDDAA LGRRNGEMKLGSPALQILLTNTKVPRNTRALVAGVRNRLLKFPEIVAPLLTSIDAISLECERVLGEMGEAPAPEQYLVLE ELIDMNQHHLNALGVGHASLDQLCQVTRARGLHSKLTGAGGGGCGITLLKPGLEQPEVEATKQALTSCGFDCLETSIGAP GVSIHSATSLNSRVQQALDGL*

Gene Symbol:	MVK
Accession:	XM_017019313
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	334

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSEVLLVSAPGKVILHGEHAVVHGKVALAVSLNLRTFLRLQPHSNGKVDLSLPNIGIKRAWDVARLQSLDTSFLEQGDV TTPTSEQVEKLKEVAGLPDDCAVTERLAVLAFLYLYLSICRKQRWTKEDLELINKWAFQGERMIHGNPSGVDNAVSTWGG ALRYHQGKISSLKRSPALQILLTNTKVPRNTRALVAGVRNRLLKFPEIVAPLLTSIDAISLECERVLGEMGEAPAPEQYL VLEELIDMNQHHLNALGVGHASLDQLCQVTRARGLHSKLTGAGGGGCGITLLKPGLEQPEVEATKQALTSCGFDCLETSI GAPGVSIHSATSLNSRVQQALDGL*

Gene Symbol:	MVK
Accession:	NM_001414515
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	192

Amino Acid Sequence (Calculated using NCBI transcript definition)
MIHGNPSGVDNAVSTWGGALRYHQGKISSLKRSPALQILLTNTKVPRNTRALVAGVRNRLLKFPEIVAPLLTSIDAISLE CERVLGEMGEAPAPEQYLVLEELIDMNQHHLNALGVGHASLDQLCQVTRARGLHSKLTGAGGGGCGITLLKPGLEQPEVE ATKQALTSCGFDCLETSIGAPGVSIHSATSLNSRVQQALDGL*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	192

Amino Acid Sequence (Calculated using NCBI transcript definition)
MIHGNPSGVDNAVSTWGGALRYHQGKISSLKRSPALQILLTNTKVPRNTRALVAGVRNRLLKFPEIVAPLLTSIDAISLE CERVLGEMGEAPAPEQYLVLEELIDMNQHHLNALGVGHASLDQLCQVTRARGLHSKLTGAGGGGCGITLLKPGLEQPEVE ATKQALTSCGFDCLETSIGAPGVSIHSATSLNSRVQQALDGL*

Gene Symbol:	MVK
Accession:	XM_017019314
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	386

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSEVLLVSAPGKVILHGEHAVVHGKVALAVSLNLRTFLRLQPHSNGKVDLSLPNIGIKRAWDVARLQSLDTSFLEQGDV TTPTSEQVEKLKEVAGLPDDCAVTERLAVLAFLYLYLSICRKQRALPSLDIVVWSELPPGAGLGSSAAYSVCLAAALLTV CEEIPNPLKDGDCVNRWTKEDLELINKWAFQGERMIHGNPSGVDNAVSTWGGALRYHQGKISSLKRSPALQILLTNTKVP RNTRALVAGVRNRLLKFPEIVAPLLTSIDAISLECERVLGEMGEAPAPEQYLVLEELIDMNQHHLNALGVGHASLDQLCQ VTRARGLHSKLTGAGGGGCGITLLKPGLEQPEVEATKQALTSCGFDCLETSIGAPGVSIHSATSLNSRVQQALDGL*

Gene Symbol:	MVK
Accession:	NM_001114185
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	386

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSEVLLVSAPGKVILHGEHAVVHGKVALAVSLNLRTFLRLQPHSNGKVDLSLPNIGIKRAWDVARLQSLDTSFLEQGDV TTPTSEQVEKLKEVAGLPDDCAVTERLAVLAFLYLYLSICRKQRALPSLDIVVWSELPPGAGLGSSAAYSVCLAAALLTV CEEIPNPLKDGDCVNRWTKEDLELINKWAFQGERMIHGNPSGVDNAVSTWGGALRYHQGKISSLKRSPALQILLTNTKVP RNTRALVAGVRNRLLKFPEIVAPLLTSIDAISLECERVLGEMGEAPAPEQYLVLEELIDMNQHHLNALGVGHASLDQLCQ VTRARGLHSKLTGAGGGGCGITLLKPGLEQPEVEATKQALTSCGFDCLETSIGAPGVSIHSATSLNSRVQQALDGL*

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

Gene Symbol:	MVK
Accession:	NR_182758
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	RCV000083823	CLINVAR
	RCV000887171	CLINVAR
	RCV001701591	CLINVAR
	RCV002262659	CLINVAR
dbSNP (RS)	rs104895380	CLINVAR
MedGen	C0398691	CLINVAR
	C1959626	CLINVAR
	C3661900	CLINVAR
	C3890737	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) 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)

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

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Variant: rs104895380 - Homo sapiens

Imported Disease Annotations - ClinVar