RGD:26898231 Rat Genome Database

Variant: RGD:26898231 - Homo sapiens

RGD ID:

26898231

RS ID:

rs745464766

ClinVar ID:

CV842287

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

IVD

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	15	40,708,311
GRCh38	15	40,416,112

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_001159508.3:c.905G>T NM_002225.5:c.995G>T NP_001152980.2:p.Arg302Leu NP_001341526.1:p.Arg316Leu More...	08/17/2023	missense variant	pathogenic\|uncertain significance	Isovaleric acid CoA dehydrogenase deficiency; Isovaleric acidemia; Isovaleryl CoA carboxylase deficiency; IVD deficiency

Disease Annotations Click to see Annotation Detail View

isovaleric acidemia (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	IVD
Accession:	XM_017022154
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	345

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVFWWRIGQATYRLWHKGPQSVCSSLTPEQAELRQTMAKFLQEHLAPKAQEIDRSNEFKNLRVSWEVRAVGGSQGVGLSC TAAWKSSHSFLEFWKQLGNLGVLGITAPVQYGGSGLGYLEHVLVMEEISRASGAVGLSYGAHSNLCINQLVRNGNEAQKE KYLPKLISGEYIGALAMSEPNAGSDVVSMKLKAEKKGNHYILNGNKFWITNGPDADVLIVYAKTDLAAVPASRGITAFIV EKGMPGFSTSKKLDKLGMRGSNTCELIFEDCKIPAANILGHENKGVYVLMSGLDLERLVLAGGPLGLMQAVLDHTIPYLH VREAFGQKIGHFQLMQGKMADMYTLLMACRQYVYNVAKACDEGHCTAKDCAGVILYSAECATQVALDGIQCFGGNGYIND FPMGRFLRDAKLYEIGAGTSEVRRLVIGRAFNADFH*

Gene Symbol:	IVD
Accession:	NM_001354598
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	332

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATATRLLGWRVASWRLRPPLAGFVSQRAHSLLPVDDAINGLSEEQRQLRQTMAKFLQEHLAPKAQEIDRSNEFKNLREF WKQLGNLGVLGITAPVQYGGSGLGYLEHVLVMEEISRASGAVGLSYGAHSNLCINQLVRNGNEAQKEKYLPKLISGEYIG ALAMSEPNAGSDVVSMKLKAEKKGNHYILNGNKFWITNGPDADVLIVYAKTDLAAVPASRGITAFIVEKGMPGFSTSKKL DKLGMRGSNTCELIFEDCKIPAANILGHENKGVYVLMSGLDLERLVLAGGPLGLMQAVLDHTIPYLHVREAFGQKIGHFQ LMQGKMADMYTLLMACRQYVYNVAKACDEGHCTAKDCAGVILYSAECATQVALDGIQCFGHAPQPFLYTEPVNYQAPRKF FSGSQHLADLFRPTPTWEGGRDPRSDVPGAGEHCEGTEMQDPPA*

Gene Symbol:	IVD
Accession:	XM_047432460
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	345

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVFWWRIGQATYRLWHKGPQSVCSSLTPEQAELRQTMAKFLQEHLAPKAQEIDRSNEFKNLRVSWEVRAVGGSQGVGLSC TAAWKSSHSFLEFWKQLGNLGVLGITAPVQYGGSGLGYLEHVLVMEEISRASGAVGLSYGAHSNLCINQLVRNGNEAQKE KYLPKLISGEYIGALAMSEPNAGSDVVSMKLKAEKKGNHYILNGNKFWITNGPDADVLIVYAKTDLAAVPASRGITAFIV EKGMPGFSTSKKLDKLGMRGSNTCELIFEDCKIPAANILGHENKGVYVLMSGLDLERLVLAGGPLGLMQAVLDHTIPYLH VREAFGQKIGHFQLMQGKMADMYTLLMACRQYVYNVAKACDEGHCTAKDCAGVILYSAECATQVALDGIQCFGQTFSAQH PPGREGETRGQTSLEQVSTARELRCKILLPELTPRVLLPQLASWISDQKLPFLKILLCSPTSLGQSSLAGFTKLRWPYPL LQPHLLPHPYTTALHLC*

Gene Symbol:	IVD
Accession:	XM_017022149
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	364

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEMATATRLLGWRVASWRLRPPLAGFVSQRAHSLLPVDDAINGLSEEQRQLRQTMAKFLQEHLAPKAQEIDRSNEFKNL RVSWEVRAVGGSQGVGLSCTAAWKSSHSFLEFWKQLGNLGVLGITAPVQYGGSGLGYLEHVLVMEEISRASGAVGLSYGA HSNLCINQLVRNGNEAQKEKYLPKLISGEYIGALAMSEPNAGSDVVSMKLKAEKKGNHYILNGNKFWITNGPDADVLIVY AKTDLAAVPASRGITAFIVEKGMPGFSTSKKLDKLGMRGSNTCELIFEDCKIPAANILGHENKGVYVLMSGLDLERLVLA GGPLGLMQAVLDHTIPYLHVREAFGQKIGHFQLMQGKMADMYTLLMACRQYVYNVAKACDEGHCTAKDCAGVILYSAECA TQVALDGIQCFGQTFSAQHPPGREGETRGQTSLEQVSTARELRCKILLPELTPRVLLPQLASWISDQKLPFLKILLCSPT SLGQSSLAGFTKLRWPYPLLQPHLLPHPYTTALHLC*

Gene Symbol:	IVD
Accession:	XM_017022155
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	364

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEMATATRLLGWRVASWRLRPPLAGFVSQRAHSLLPVDDAINGLSEEQRQLRQTMAKFLQEHLAPKAQEIDRSNEFKNL RVSWEVRAVGGSQGVGLSCTAAWKSSHSFLEFWKQLGNLGVLGITAPVQYGGSGLGYLEHVLVMEEISRASGAVGLSYGA HSNLCINQLVRNGNEAQKEKYLPKLISGEYIGALAMSEPNAGSDVVSMKLKAEKKGNHYILNGNKFWITNGPDADVLIVY AKTDLAAVPASRGITAFIVEKGMPGFSTSKKLDKLGMRGSNTCELIFEDCKIPAANILGHENKGVYVLMSGLDLERLVLA GGPLGLMQAVLDHTIPYLHVREAFGQKIGHFQLMQGKMADMYTLLMACRQYVYNVAKACDEGHCTAKDCAGVILYSAECA TQVALDGIQCFVSRGISS*

Gene Symbol:	IVD
Accession:	NM_001354600
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	361

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATATRLLGWRVASWRLRPPLAGFVSQRAHSLLPVDDAINGLSEEQRQLRQTMAKFLQEHLAPKAQEIDRSNEFKNLRVS WEVRAVGGSQGVGLSCTAAWKSSHSFLEFWKQLGNLGVLGITAPVQYGGSGLGYLEHVLVMEEISRASGAVGLSYGAHSN LCINQLVRNGNEAQKEKYLPKLISGEYIGALAMSEPNAGSDVVSMKLKAEKKGNHYILNGNKFWITNGPDADVLIVYAKT DLAAVPASRGITAFIVEKGMPGFSTSKKLDKLGMRGSNTCELIFEDCKIPAANILGHENKGVYVLMSGLDLERLVLAGGP LGLMQAVLDHTIPYLHVREAFGQKIGHFQLMQGKMADMYTLLMACRQYVYNVAKACDEGHCTAKDCAGVILYSAECATQV ALDGIQCFGHAPQPFLYTEPVNYQAPRKFFSGSQHLADLFRPTPTWEGGRDPRSDVPGAGEHCEGTEMQDPPA*

Gene Symbol:	IVD
Accession:	XM_047432461
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	316

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVFWWRIGQATYRLWHKGPQSVCSSLTPEQAELRQTMAKFLQEHLAPKAQEIDRSNEFKNLREFWKQLGNLGVLGITAPV QYGGSGLGYLEHVLVMEEISRASGAVGLSYGAHSNLCINQLVRNGNEAQKEKYLPKLISGEYIGALAMSEPNAGSDVVSM KLKAEKKGNHYILNGNKFWITNGPDADVLIVYAKTDLAAVPASRGITAFIVEKGMPGFSTSKKLDKLGMRGSNTCELIFE DCKIPAANILGHENKGVYVLMSGLDLERLVLAGGPLGLMQAVLDHTIPYLHVREAFGQKIGHFQLMQGKMADMYTLLMAC RQYVYNVAKACDEGHCTAKDCAGVILYSAECATQVALDGIQCFGQTFSAQHPPGREGETRGQTSLEQVSTARELRCKILL PELTPRVLLPQLASWISDQKLPFLKILLCSPTSLGQSSLAGFTKLRWPYPLLQPHLLPHPYTTALHLC*

Gene Symbol:	IVD
Accession:	NM_002225
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	332

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATATRLLGWRVASWRLRPPLAGFVSQRAHSLLPVDDAINGLSEEQRQLRQTMAKFLQEHLAPKAQEIDRSNEFKNLREF WKQLGNLGVLGITAPVQYGGSGLGYLEHVLVMEEISRASGAVGLSYGAHSNLCINQLVRNGNEAQKEKYLPKLISGEYIG ALAMSEPNAGSDVVSMKLKAEKKGNHYILNGNKFWITNGPDADVLIVYAKTDLAAVPASRGITAFIVEKGMPGFSTSKKL DKLGMRGSNTCELIFEDCKIPAANILGHENKGVYVLMSGLDLERLVLAGGPLGLMQAVLDHTIPYLHVREAFGQKIGHFQ LMQGKMADMYTLLMACRQYVYNVAKACDEGHCTAKDCAGVILYSAECATQVALDGIQCFGGNGYINDFPMGRFLRDAKLY EIGAGTSEVRRLVIGRAFNADFH*

Gene Symbol:	IVD
Accession:	XM_047432463
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	335

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEMATATRLLGWRVASWRLRPPLAGFVSQRAHSLLPVDDAINGLSEEQRQLRQTMAKFLQEHLAPKAQEIDRSNEFKNL REFWKQLGNLGVLGITAPVQYGGSGLGYLEHVLVMEEISRASGAVGLSYGAHSNLCINQLVRNGNEAQKEKYLPKLISGE YIGALAMSEPNAGSDVVSMKLKAEKKGNHYILNGNKFWITNGPDADVLIVYAKTDLAAVPASRGITAFIVEKGMPGFSTS KKLDKLGMRGSNTCELIFEDCKIPAANILGHENKGVYVLMSGLDLERLVLAGGPLGLMQAVLDHTIPYLHVREAFGQKIG HFQLMQGKMADMYTLLMACRQYVYNVAKACDEGHCTAKDCAGVILYSAECATQVALDGIQCFVSRGISS*

Gene Symbol:	IVD
Accession:	XM_047432462
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	335

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEMATATRLLGWRVASWRLRPPLAGFVSQRAHSLLPVDDAINGLSEEQRQLRQTMAKFLQEHLAPKAQEIDRSNEFKNL REFWKQLGNLGVLGITAPVQYGGSGLGYLEHVLVMEEISRASGAVGLSYGAHSNLCINQLVRNGNEAQKEKYLPKLISGE YIGALAMSEPNAGSDVVSMKLKAEKKGNHYILNGNKFWITNGPDADVLIVYAKTDLAAVPASRGITAFIVEKGMPGFSTS KKLDKLGMRGSNTCELIFEDCKIPAANILGHENKGVYVLMSGLDLERLVLAGGPLGLMQAVLDHTIPYLHVREAFGQKIG HFQLMQGKMADMYTLLMACRQYVYNVAKACDEGHCTAKDCAGVILYSAECATQVALDGIQCFDLFRPTPTWEGGRDPRSD VPGAGEHCEGTEMQDPPA*

Gene Symbol:	IVD
Accession:	NM_001159508
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	302

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATATRLLGWRVASWRLRPPLAGFVSQRAHSLLPVDDAINGLSEEQRQEFWKQLGNLGVLGITAPVQYGGSGLGYLEHVL VMEEISRASGAVGLSYGAHSNLCINQLVRNGNEAQKEKYLPKLISGEYIGALAMSEPNAGSDVVSMKLKAEKKGNHYILN GNKFWITNGPDADVLIVYAKTDLAAVPASRGITAFIVEKGMPGFSTSKKLDKLGMRGSNTCELIFEDCKIPAANILGHEN KGVYVLMSGLDLERLVLAGGPLGLMQAVLDHTIPYLHVREAFGQKIGHFQLMQGKMADMYTLLMACRQYVYNVAKACDEG HCTAKDCAGVILYSAECATQVALDGIQCFGGNGYINDFPMGRFLRDAKLYEIGAGTSEVRRLVIGRAFNADFH*

Gene Symbol:	IVD
Accession:	XM_017022153
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	364

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEMATATRLLGWRVASWRLRPPLAGFVSQRAHSLLPVDDAINGLSEEQRQLRQTMAKFLQEHLAPKAQEIDRSNEFKNL RVSWEVRAVGGSQGVGLSCTAAWKSSHSFLEFWKQLGNLGVLGITAPVQYGGSGLGYLEHVLVMEEISRASGAVGLSYGA HSNLCINQLVRNGNEAQKEKYLPKLISGEYIGALAMSEPNAGSDVVSMKLKAEKKGNHYILNGNKFWITNGPDADVLIVY AKTDLAAVPASRGITAFIVEKGMPGFSTSKKLDKLGMRGSNTCELIFEDCKIPAANILGHENKGVYVLMSGLDLERLVLA GGPLGLMQAVLDHTIPYLHVREAFGQKIGHFQLMQGKMADMYTLLMACRQYVYNVAKACDEGHCTAKDCAGVILYSAECA TQVALDGIQCFDLFRPTPTWEGGRDPRSDVPGAGEHCEGTEMQDPPA*

Gene Symbol:	IVD
Accession:	NM_001354601
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	332

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATATRLLGWRVASWRLRPPLAGFVSQRAHSLLPVDDAINGLSEEQRQLRQTMAKFLQEHLAPKAQEIDRSNEFKNLREF WKQLGNLGVLGITAPVQYGGSGLGYLEHVLVMEEISRASGAVGLSYGAHSNLCINQLVRNGNEAQKEKYLPKLISGEYIG ALAMSEPNAGSDVVSMKLKAEKKGNHYILNGNKFWITNGPDADVLIVYAKTDLAAVPASRGITAFIVEKGMPGFSTSKKL DKLGMRGSNTCELIFEDCKIPAANILGHENKGVYVLMSGLDLERLVLAGGPLGLMQAVLDHTIPYLHVREAFGQKIGHFQ LMQGKMADMYTLLMACRQYVYNVAKACDEGHCTAKDCAGVILYSAECATQVALDGIQCFGQTFSAQHPPGREGETRGQTS LEQVSTARELRCKILLPELTPRVLLPQLASWISDQKLPFLKILLCSPTSLGQSSLAGFTKLRWPYPLLQPHLLPHPYTTA LHLC*

Gene Symbol:	IVD
Accession:	NM_001354599
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	361

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATATRLLGWRVASWRLRPPLAGFVSQRAHSLLPVDDAINGLSEEQRQLRQTMAKFLQEHLAPKAQEIDRSNEFKNLRVS WEVRAVGGSQGVGLSCTAAWKSSHSFLEFWKQLGNLGVLGITAPVQYGGSGLGYLEHVLVMEEISRASGAVGLSYGAHSN LCINQLVRNGNEAQKEKYLPKLISGEYIGALAMSEPNAGSDVVSMKLKAEKKGNHYILNGNKFWITNGPDADVLIVYAKT DLAAVPASRGITAFIVEKGMPGFSTSKKLDKLGMRGSNTCELIFEDCKIPAANILGHENKGVYVLMSGLDLERLVLAGGP LGLMQAVLDHTIPYLHVREAFGQKIGHFQLMQGKMADMYTLLMACRQYVYNVAKACDEGHCTAKDCAGVILYSAECATQV ALDGIQCFGGNGYINDFPMGRFLRDAKLYEIGAGTSEVRRLVIGRAFNADFH*

Gene Symbol:	IVD
Accession:	NM_001354597
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	316

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVFWWRIGQATYRLWHKGPQSVCSSLTPEQAELRQTMAKFLQEHLAPKAQEIDRSNEFKNLREFWKQLGNLGVLGITAPV QYGGSGLGYLEHVLVMEEISRASGAVGLSYGAHSNLCINQLVRNGNEAQKEKYLPKLISGEYIGALAMSEPNAGSDVVSM KLKAEKKGNHYILNGNKFWITNGPDADVLIVYAKTDLAAVPASRGITAFIVEKGMPGFSTSKKLDKLGMRGSNTCELIFE DCKIPAANILGHENKGVYVLMSGLDLERLVLAGGPLGLMQAVLDHTIPYLHVREAFGQKIGHFQLMQGKMADMYTLLMAC RQYVYNVAKACDEGHCTAKDCAGVILYSAECATQVALDGIQCFGGNGYINDFPMGRFLRDAKLYEIGAGTSEVRRLVIGR AFNADFH*

Gene Symbol:	IVD
Accession:	XM_047432464
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	316

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVFWWRIGQATYRLWHKGPQSVCSSLTPEQAELRQTMAKFLQEHLAPKAQEIDRSNEFKNLREFWKQLGNLGVLGITAPV QYGGSGLGYLEHVLVMEEISRASGAVGLSYGAHSNLCINQLVRNGNEAQKEKYLPKLISGEYIGALAMSEPNAGSDVVSM KLKAEKKGNHYILNGNKFWITNGPDADVLIVYAKTDLAAVPASRGITAFIVEKGMPGFSTSKKLDKLGMRGSNTCELIFE DCKIPAANILGHENKGVYVLMSGLDLERLVLAGGPLGLMQAVLDHTIPYLHVREAFGQKIGHFQLMQGKMADMYTLLMAC RQYVYNVAKACDEGHCTAKDCAGVILYSAECATQVALDGIQCFVSRGISS*

Gene Symbol:	IVD
Accession:	NR_148925
Location:	EXON;NON-CODING

Gene Symbol:	IVD
Accession:	XR_007064442
Location:	EXON;NON-CODING

Gene Symbol:	IVD
Accession:	XR_007064441
Location:	EXON;NON-CODING

Gene Symbol:	IVD
Accession:	XM_017022157
Location:	INTRON

Gene Symbol:	IVD
Accession:	XM_006720495
Location:	INTRON

Gene Symbol:	IVD
Accession:	XM_017022158
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV001070595	CLINVAR
dbSNP (RS)	rs745464766	CLINVAR
MedGen	C0268575	CLINVAR
NCBI Gene	IVD	CLINVAR
OMIM	243500	CLINVAR
	607036	CLINVAR
SNOMED CT	87827003	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)

Create Name:

Description:

Send us a Message

Variant: RGD:26898231 - Homo sapiens

Imported Disease Annotations - ClinVar