RGD:13618267 Rat Genome Database

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Variant: RGD:13618267 -  Homo sapiens

RGD ID: 13618267
RS ID: rs763422682
ClinVar ID: CV529288
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IVD  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 40,710,395
GRCh38 15 40,418,196
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011986.2:g.17712T>C
NC_000015.10:g.40418196T>C
NC_000015.9:g.40710395T>C
NM_002225.3:c.1214T>C
More... 		03/27/2023 intron variant likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; Isovaleric acid CoA dehydrogenase deficiency; Isovaleric acidemia; Isovaleryl CoA carboxylase deficiency; IVD deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IVD
Accession:XM_017022154
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 415
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVFWWRIGQATYRLWHKGPQSVCSSLTPEQAELRQTMAKFLQEHLAPKAQEIDRSNEFKNLRVSWEVRAVGGSQGVGLSC
TAAWKSSHSFLEFWKQLGNLGVLGITAPVQYGGSGLGYLEHVLVMEEISRASGAVGLSYGAHSNLCINQLVRNGNEAQKE
KYLPKLISGEYIGALAMSEPNAGSDVVSMKLKAEKKGNHYILNGNKFWITNGPDADVLIVYAKTDLAAVPASRGITAFIV
EKGMPGFSTSKKLDKLGMRGSNTCELIFEDCKIPAANILGHENKGVYVLMSGLDLERLVLAGGPLGLMQAVLDHTIPYLH
VREAFGQKIGHFQLMQGKMADMYTRLMACRQYVYNVAKACDEGHCTAKDCAGVILYSAECATQVALDGIQCFGGNGYIND
FPMGRFLRDAKLYETGAGTSEVRRLVIGRAFNADFH*

Gene Symbol:IVD
Accession:NM_001354599
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 431
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATATRLLGWRVASWRLRPPLAGFVSQRAHSLLPVDDAINGLSEEQRQLRQTMAKFLQEHLAPKAQEIDRSNEFKNLRVS
WEVRAVGGSQGVGLSCTAAWKSSHSFLEFWKQLGNLGVLGITAPVQYGGSGLGYLEHVLVMEEISRASGAVGLSYGAHSN
LCINQLVRNGNEAQKEKYLPKLISGEYIGALAMSEPNAGSDVVSMKLKAEKKGNHYILNGNKFWITNGPDADVLIVYAKT
DLAAVPASRGITAFIVEKGMPGFSTSKKLDKLGMRGSNTCELIFEDCKIPAANILGHENKGVYVLMSGLDLERLVLAGGP
LGLMQAVLDHTIPYLHVREAFGQKIGHFQLMQGKMADMYTRLMACRQYVYNVAKACDEGHCTAKDCAGVILYSAECATQV
ALDGIQCFGGNGYINDFPMGRFLRDAKLYETGAGTSEVRRLVIGRAFNADFH*

Gene Symbol:IVD
Accession:NM_002225
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 402
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATATRLLGWRVASWRLRPPLAGFVSQRAHSLLPVDDAINGLSEEQRQLRQTMAKFLQEHLAPKAQEIDRSNEFKNLREF
WKQLGNLGVLGITAPVQYGGSGLGYLEHVLVMEEISRASGAVGLSYGAHSNLCINQLVRNGNEAQKEKYLPKLISGEYIG
ALAMSEPNAGSDVVSMKLKAEKKGNHYILNGNKFWITNGPDADVLIVYAKTDLAAVPASRGITAFIVEKGMPGFSTSKKL
DKLGMRGSNTCELIFEDCKIPAANILGHENKGVYVLMSGLDLERLVLAGGPLGLMQAVLDHTIPYLHVREAFGQKIGHFQ
LMQGKMADMYTRLMACRQYVYNVAKACDEGHCTAKDCAGVILYSAECATQVALDGIQCFGGNGYINDFPMGRFLRDAKLY
ETGAGTSEVRRLVIGRAFNADFH*

Gene Symbol:IVD
Accession:NM_001354597
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 386
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVFWWRIGQATYRLWHKGPQSVCSSLTPEQAELRQTMAKFLQEHLAPKAQEIDRSNEFKNLREFWKQLGNLGVLGITAPV
QYGGSGLGYLEHVLVMEEISRASGAVGLSYGAHSNLCINQLVRNGNEAQKEKYLPKLISGEYIGALAMSEPNAGSDVVSM
KLKAEKKGNHYILNGNKFWITNGPDADVLIVYAKTDLAAVPASRGITAFIVEKGMPGFSTSKKLDKLGMRGSNTCELIFE
DCKIPAANILGHENKGVYVLMSGLDLERLVLAGGPLGLMQAVLDHTIPYLHVREAFGQKIGHFQLMQGKMADMYTRLMAC
RQYVYNVAKACDEGHCTAKDCAGVILYSAECATQVALDGIQCFGGNGYINDFPMGRFLRDAKLYETGAGTSEVRRLVIGR
AFNADFH*

Gene Symbol:IVD
Accession:NM_001159508
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 372
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATATRLLGWRVASWRLRPPLAGFVSQRAHSLLPVDDAINGLSEEQRQEFWKQLGNLGVLGITAPVQYGGSGLGYLEHVL
VMEEISRASGAVGLSYGAHSNLCINQLVRNGNEAQKEKYLPKLISGEYIGALAMSEPNAGSDVVSMKLKAEKKGNHYILN
GNKFWITNGPDADVLIVYAKTDLAAVPASRGITAFIVEKGMPGFSTSKKLDKLGMRGSNTCELIFEDCKIPAANILGHEN
KGVYVLMSGLDLERLVLAGGPLGLMQAVLDHTIPYLHVREAFGQKIGHFQLMQGKMADMYTRLMACRQYVYNVAKACDEG
HCTAKDCAGVILYSAECATQVALDGIQCFGGNGYINDFPMGRFLRDAKLYETGAGTSEVRRLVIGRAFNADFH*

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

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

Gene Symbol:IVD
Accession:XM_017022158
Location:INTRON

Gene Symbol:IVD
Accession:XM_017022157
Location:INTRON

Gene Symbol:IVD
Accession:XM_017022155
Location:INTRON

Gene Symbol:IVD
Accession:NM_001354601
Location:INTRON

Gene Symbol:IVD
Accession:XM_047432461
Location:INTRON

Gene Symbol:IVD
Accession:NM_001354598
Location:INTRON

Gene Symbol:IVD
Accession:XM_006720495
Location:INTRON

Gene Symbol:IVD
Accession:XM_017022149
Location:INTRON

Gene Symbol:IVD
Accession:XM_047432460
Location:INTRON

Gene Symbol:IVD
Accession:NM_001354600
Location:INTRON

Gene Symbol:IVD
Accession:XM_017022153
Location:INTRON

Gene Symbol:IVD
Accession:XM_047432464
Location:INTRON

Gene Symbol:IVD
Accession:XM_047432463
Location:INTRON

Gene Symbol:IVD
Accession:XM_047432462
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:27904153   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000634867 CLINVAR
  RCV003226343 CLINVAR
dbSNP (RS) rs763422682 CLINVAR
MedGen C0268575 CLINVAR
  CN169374 CLINVAR
NCBI Gene IVD CLINVAR
OMIM 243500 CLINVAR
  607036 CLINVAR
SNOMED CT 87827003 CLINVAR