![]()
Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autistic disorder | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:17883863 | |
|
![]()
Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autistic disorder | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:17883863 | |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
1. | GOA_HUMAN data from the GO Consortium |
2. | KEGG |
3. | OMIM Disease Annotation Pipeline |
4. | Pipeline to import KEGG annotations from KEGG into RGD |
5. | Pipeline to import SMPDB annotations from SMPDB into RGD |
6. | Pruitt KD and Maglott DR, Nucleic Acids Res. 2001 Jan 1;29(1):137-40. |
7. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
8. | RGD automated import pipeline for gene-chemical interactions |
9. | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
10. | Williams DR, etal., Vet Rec 1978 Oct 14;103(16):359-60. |
PMID:7698750 | PMID:7759115 | PMID:10737800 | PMID:10832746 | PMID:11013134 | PMID:12477932 | PMID:12855692 | PMID:15489334 | PMID:16317551 | PMID:16331963 | PMID:16331964 | PMID:16344560 |
PMID:16385451 | PMID:17143180 | PMID:17207965 | PMID:18976975 | PMID:19615732 | PMID:20418485 | PMID:20547083 | PMID:20877624 | PMID:21873635 | PMID:22277967 | PMID:23376485 | PMID:23712021 |
PMID:24797263 | PMID:26058080 | PMID:26186194 | PMID:26344197 | PMID:26389662 | PMID:26496610 | PMID:26638075 | PMID:26871637 | PMID:26972000 | PMID:27025967 | PMID:27684187 | PMID:28380382 |
PMID:28514442 | PMID:28561026 | PMID:28700943 | PMID:28712289 | PMID:29540532 | PMID:29568061 | PMID:30619736 | PMID:30730842 | PMID:30833792 | PMID:31056398 | PMID:31091453 | PMID:31536960 |
PMID:31617661 | PMID:32877691 |
ACADSB (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acadsb (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acadsb (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acadsb (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
ACADSB (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
ACADSB (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acadsb (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
ACADSB (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
ACADSB (Chlorocebus sabaeus - African green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acadsb (Heterocephalus glaber - naked mole-rat) |
|
D10S2417 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||
D10S1297E |
|
||||||||||||||||||||||||||||||||||||||||||||||||||
ACADSB_201 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||
RH68878 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||
SHGC-35255 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||
RH44778 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||
RH70481 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||
SHGC-13269 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||
RH44700 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||
D21S1698 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||
WI-18655 |
|
The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
High | ||||||||||||||||||
Medium | 1939 | 1690 | 1536 | 561 | 818 | 442 | 3844 | 1798 | 2411 | 337 | 1058 | 1147 | 126 | 802 | 2543 | 1 | ||
Low | 500 | 1093 | 190 | 63 | 927 | 23 | 513 | 397 | 1323 | 82 | 402 | 466 | 48 | 1 | 402 | 245 | 5 | 2 |
Below cutoff | 208 | 206 | 2 |
RefSeq Transcripts | NG_008003 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001330174 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001609 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC012391 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC073585 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AH009706 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK298638 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK314241 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL731666 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL831821 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AW408417 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC013756 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC020931 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC032395 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC045723 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BE875638 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BQ312626 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471066 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA964130 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DC412570 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
H56072 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KU177879 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KU177880 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U12778 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000358776 ⟹ ENSP00000357873 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000368869 ⟹ ENSP00000357862 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000411816 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000541070 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001330174 ⟹ NP_001317103 | ||||||||
RefSeq Status: | REVIEWED | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | NM_001609 ⟹ NP_001600 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
Protein RefSeqs | NP_001317103 | (Get FASTA) | NCBI Sequence Viewer |
NP_001600 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAA74424 | (Get FASTA) | NCBI Sequence Viewer |
AAF97921 | (Get FASTA) | NCBI Sequence Viewer | |
AAH13756 | (Get FASTA) | NCBI Sequence Viewer | |
ALQ33337 | (Get FASTA) | NCBI Sequence Viewer | |
ALQ33338 | (Get FASTA) | NCBI Sequence Viewer | |
BAG36909 | (Get FASTA) | NCBI Sequence Viewer | |
BAG60813 | (Get FASTA) | NCBI Sequence Viewer | |
CAD38535 | (Get FASTA) | NCBI Sequence Viewer | |
EAW49291 | (Get FASTA) | NCBI Sequence Viewer | |
P45954 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001600 ⟸ NM_001609 |
- Peptide Label: | isoform 1 precursor |
- UniProtKB: | P45954 (UniProtKB/Swiss-Prot), A0A0S2Z3P9 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001317103 ⟸ NM_001330174 |
- Peptide Label: | isoform 2 |
- UniProtKB: | P45954 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | ENSP00000357862 ⟸ ENST00000368869 |
RefSeq Acc Id: | ENSP00000357873 ⟸ ENST00000358776 |
RGD ID: | 7218893 | ||||||||
Promoter ID: | EPDNEW_H15192 | ||||||||
Type: | initiation region | ||||||||
Name: | ACADSB_1 | ||||||||
Description: | acyl-CoA dehydrogenase, short/branched chain | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6787304 | ||||||||
Promoter ID: | HG_KWN:11511 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | ENST00000263447, OTTHUMT00000050820, OTTHUMT00000050821, OTTHUMT00000050822, OTTHUMT00000050823, OTTHUMT00000050843 | ||||||||
Position: |
|
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_001609.3(ACADSB):c.303+3A>G | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000009779]|not provided [RCV000522412] | Chr10:123037850 [GRCh38] Chr10:124797366 [GRCh37] Chr10:10q26.13 |
pathogenic |
LRG_451t1:c.303+3A>G | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000009779] | Chr10:10q25-q26 | pathogenic |
NM_001609.3(ACADSB):c.1228G>A (p.Gly410Ser) | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000009777] | Chr10:123053160 [GRCh38] Chr10:124812676 [GRCh37] Chr10:10q26.13 |
pathogenic |
NM_001609.3(ACADSB):c.763C>T (p.Leu255Phe) | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000009778] | Chr10:123043127 [GRCh38] Chr10:124802643 [GRCh37] Chr10:10q26.13 |
pathogenic |
NM_001609.3(ACADSB):c.443C>T (p.Thr148Ile) | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000009780]|not provided [RCV000389934] | Chr10:123040605 [GRCh38] Chr10:124800121 [GRCh37] Chr10:10q26.13 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_001609.3(ACADSB):c.1159G>A (p.Glu387Lys) | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000009781]|Seizures [RCV001255064]|not provided [RCV001091421] | Chr10:123053091 [GRCh38] Chr10:124812607 [GRCh37] Chr10:10q26.13 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
GRCh38/hg38 10q26.11-26.13(chr10:119273012-123117390)x3 | copy number gain | See cases [RCV000050701] | Chr10:119273012..123117390 [GRCh38] Chr10:121032524..124876906 [GRCh37] Chr10:121022514..124866896 [NCBI36] Chr10:10q26.11-26.13 |
pathogenic |
GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3 | copy number gain | See cases [RCV000051218] | Chr10:111313099..133620674 [GRCh38] Chr10:113072857..135434178 [GRCh37] Chr10:113062847..135284168 [NCBI36] Chr10:10q25.2-26.3 |
pathogenic |
GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1 | copy number loss | See cases [RCV000051103] | Chr10:120454430..133620674 [GRCh38] Chr10:122213942..135434178 [GRCh37] Chr10:122203932..135284168 [NCBI36] Chr10:10q26.12-26.3 |
pathogenic |
GRCh38/hg38 10q26.13-26.3(chr10:122265252-133620674)x1 | copy number loss | See cases [RCV000051069] | Chr10:122265252..133620674 [GRCh38] Chr10:124024767..135434178 [GRCh37] Chr10:124014757..135284168 [NCBI36] Chr10:10q26.13-26.3 |
pathogenic |
GRCh38/hg38 10q26.13-26.2(chr10:122826743-126730948)x1 | copy number loss | See cases [RCV000052609] | Chr10:122826743..126730948 [GRCh38] Chr10:124586259..128419517 [GRCh37] Chr10:124576249..128409507 [NCBI36] Chr10:10q26.13-26.2 |
pathogenic |
GRCh38/hg38 10q26.13-26.2(chr10:122973296-128210291)x1 | copy number loss | See cases [RCV000052610] | Chr10:122973296..128210291 [GRCh38] Chr10:124732812..130008555 [GRCh37] Chr10:124722802..129898545 [NCBI36] Chr10:10q26.13-26.2 |
pathogenic |
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] | Chr10:91048545..133620674 [GRCh38] Chr10:92808302..135434178 [GRCh37] Chr10:92798282..135284168 [NCBI36] Chr10:10q23.31-26.3 |
pathogenic |
GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3 | copy number gain | See cases [RCV000053564] | Chr10:100194215..132432797 [GRCh38] Chr10:101953972..134246301 [GRCh37] Chr10:101943962..134096291 [NCBI36] Chr10:10q24.31-26.3 |
pathogenic |
GRCh38/hg38 10q25.1-26.3(chr10:106925303-133620815)x3 | copy number gain | See cases [RCV000053588] | Chr10:106925303..133620815 [GRCh38] Chr10:108685061..135434319 [GRCh37] Chr10:108675051..135284309 [NCBI36] Chr10:10q25.1-26.3 |
pathogenic |
GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3 | copy number gain | See cases [RCV000053589] | Chr10:117866565..133554210 [GRCh38] Chr10:119626076..135367714 [GRCh37] Chr10:119616066..135217704 [NCBI36] Chr10:10q26.11-26.3 |
pathogenic |
GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3 | copy number gain | See cases [RCV000133688] | Chr10:108102587..133620674 [GRCh38] Chr10:109862345..135434178 [GRCh37] Chr10:109852335..135284168 [NCBI36] Chr10:10q25.1-26.3 |
pathogenic |
GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3 | copy number gain | See cases [RCV000137747] | Chr10:100600492..133622588 [GRCh38] Chr10:102360249..135436092 [GRCh37] Chr10:102350239..135286082 [NCBI36] Chr10:10q24.31-26.3 |
pathogenic |
GRCh38/hg38 10q26.13-26.3(chr10:122881207-133620609)x1 | copy number loss | See cases [RCV000138435] | Chr10:122881207..133620609 [GRCh38] Chr10:124640723..135434113 [GRCh37] Chr10:124630713..135284103 [NCBI36] Chr10:10q26.13-26.3 |
pathogenic |
GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)x1 | copy number loss | See cases [RCV000139344] | Chr10:120970558..133622588 [GRCh38] Chr10:122730071..135436092 [GRCh37] Chr10:122720061..135286082 [NCBI36] Chr10:10q26.12-26.3 |
pathogenic |
GRCh38/hg38 10q26.13(chr10:122143176-124358013)x1 | copy number loss | See cases [RCV000139771] | Chr10:122143176..124358013 [GRCh38] Chr10:123902691..126046582 [GRCh37] Chr10:123892681..126036572 [NCBI36] Chr10:10q26.13 |
pathogenic |
GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3 | copy number gain | See cases [RCV000142005] | Chr10:119707856..133613639 [GRCh38] Chr10:121467368..135427143 [GRCh37] Chr10:121457358..135277133 [NCBI36] Chr10:10q26.11-26.3 |
pathogenic |
GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1 | copy number loss | See cases [RCV000142441] | Chr10:121588992..133620674 [GRCh38] Chr10:123348506..135434178 [GRCh37] Chr10:123338496..135284168 [NCBI36] Chr10:10q26.13-26.3 |
pathogenic |
GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1 | copy number loss | See cases [RCV000142737] | Chr10:121918547..133620674 [GRCh38] Chr10:123678062..135434178 [GRCh37] Chr10:123668052..135284168 [NCBI36] Chr10:10q26.13-26.3 |
pathogenic |
NM_001609.4(ACADSB):c.303+1G>A | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000185535]|not provided [RCV000498442] | Chr10:123037848 [GRCh38] Chr10:124797364 [GRCh37] Chr10:10q26.13 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_001609.4(ACADSB):c.295C>T (p.Gln99Ter) | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001172542]|not provided [RCV000289249] | Chr10:123037839 [GRCh38] Chr10:124797355 [GRCh37] Chr10:10q26.13 |
pathogenic |
GRCh37/hg19 10q26.12-26.2(chr10:122239239-128203032)x1 | copy number loss | See cases [RCV000240153] | Chr10:122239239..128203032 [GRCh37] Chr10:10q26.12-26.2 |
pathogenic |
GRCh37/hg19 10q26.13-26.3(chr10:123731209-135353867)x1 | copy number loss | See cases [RCV000203440] | Chr10:123731209..135353867 [GRCh37] Chr10:10q26.13-26.3 |
pathogenic|likely pathogenic |
GRCh37/hg19 10q26.13(chr10:124593422-125010666)x3 | copy number gain | See cases [RCV000240344] | Chr10:124593422..125010666 [GRCh37] Chr10:10q26.13 |
uncertain significance |
GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3 | copy number gain | See cases [RCV000240457] | Chr10:103288313..135512075 [GRCh37] Chr10:10q24.32-26.3 |
pathogenic |
NM_001609.4(ACADSB):c.621G>A (p.Trp207Ter) | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000301658] | Chr10:123041319 [GRCh38] Chr10:124800835 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.*6A>G | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000345021] | Chr10:123053771 [GRCh38] Chr10:124813287 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.*2548G>T | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000393807] | Chr10:123056313 [GRCh38] Chr10:124815829 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.*206A>C | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000370353] | Chr10:123053971 [GRCh38] Chr10:124813487 [GRCh37] Chr10:10q26.13 |
benign|uncertain significance |
NM_001609.3(ACADSB):c.-97T>C | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000269379] | Chr10:123008933 [GRCh38] Chr10:124768449 [GRCh37] Chr10:10q26.13 |
benign|uncertain significance |
NM_001609.3(ACADSB):c.-107G>A | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000323223] | Chr10:123008923 [GRCh38] Chr10:124768439 [GRCh37] Chr10:10q26.13 |
benign|likely benign |
NM_001609.3(ACADSB):c.*1972C>A | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000323873] | Chr10:123055737 [GRCh38] Chr10:124815253 [GRCh37] Chr10:10q26.13 |
benign|uncertain significance |
NM_001609.3(ACADSB):c.*545G>A | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000324239] | Chr10:123054310 [GRCh38] Chr10:124813826 [GRCh37] Chr10:10q26.13 |
benign |
NM_001609.3(ACADSB):c.95T>A (p.Val32Asp) | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000371606] | Chr10:123034408 [GRCh38] Chr10:124793924 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.1271T>C (p.Ile424Thr) | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000287162] | Chr10:123053737 [GRCh38] Chr10:124813253 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.*1200A>T | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000325501] | Chr10:123054965 [GRCh38] Chr10:124814481 [GRCh37] Chr10:10q26.13 |
benign|likely benign |
NM_001609.3(ACADSB):c.*2085C>T | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000271968] | Chr10:123055850 [GRCh38] Chr10:124815366 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.*1445A>T | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000350144] | Chr10:123055210 [GRCh38] Chr10:124814726 [GRCh37] Chr10:10q26.13 |
likely benign|uncertain significance |
NM_001609.3(ACADSB):c.*3597G>A | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000375225] | Chr10:123057362 [GRCh38] Chr10:124816878 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.1187A>C (p.Lys396Thr) | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000375544] | Chr10:123053119 [GRCh38] Chr10:124812635 [GRCh37] Chr10:10q26.13 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001609.3(ACADSB):c.*3130A>G | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000272469] | Chr10:123056895 [GRCh38] Chr10:124816411 [GRCh37] Chr10:10q26.13 |
likely benign|uncertain significance |
NM_001609.3(ACADSB):c.-89G>T | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000329073] | Chr10:123008941 [GRCh38] Chr10:124768457 [GRCh37] Chr10:10q26.13 |
benign|likely benign |
NM_001609.4(ACADSB):c.1228+20_1228+21del | deletion | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000376861] | Chr10:123053170..123053171 [GRCh38] Chr10:124812686..124812687 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_001609.3(ACADSB):c.795C>T (p.Phe265=) | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000273096] | Chr10:123043159 [GRCh38] Chr10:124802675 [GRCh37] Chr10:10q26.13 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001609.3(ACADSB):c.*1337A>G | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000290478] | Chr10:123055102 [GRCh38] Chr10:124814618 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.*2113G>A | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000329359] | Chr10:123055878 [GRCh38] Chr10:124815394 [GRCh37] Chr10:10q26.13 |
benign|likely benign |
NM_001609.3(ACADSB):c.-22A>G | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000330419] | Chr10:123009008 [GRCh38] Chr10:124768524 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.*285T>C | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000353364] | Chr10:123054050 [GRCh38] Chr10:124813566 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.*3907C>G | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000378910] | Chr10:123057672 [GRCh38] Chr10:124817188 [GRCh37] Chr10:10q26.13 |
likely benign|uncertain significance |
NM_001609.4(ACADSB):c.1128+3A>G | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000274382] | Chr10:123051189 [GRCh38] Chr10:124810705 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.946A>G (p.Ile316Val) | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000309700] | Chr10:123047254 [GRCh38] Chr10:124806770 [GRCh37] Chr10:10q26.13 |
benign|likely benign |
NM_001609.3(ACADSB):c.*30G>A | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000402217] | Chr10:123053795 [GRCh38] Chr10:124813311 [GRCh37] Chr10:10q26.13 |
likely benign|uncertain significance |
NM_001609.3(ACADSB):c.*262C>T | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000275814] | Chr10:123054027 [GRCh38] Chr10:124813543 [GRCh37] Chr10:10q26.13 |
benign |
NM_001609.3(ACADSB):c.*4135G>A | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000310382] | Chr10:123057900 [GRCh38] Chr10:124817416 [GRCh37] Chr10:10q26.13 |
benign|likely benign |
NM_001609.3(ACADSB):c.*3234C>G | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000311132] | Chr10:123056999 [GRCh38] Chr10:124816515 [GRCh37] Chr10:10q26.13 |
benign |
NM_001609.3(ACADSB):c.*109G>A | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000310915] | Chr10:123053874 [GRCh38] Chr10:124813390 [GRCh37] Chr10:10q26.13 |
benign|uncertain significance |
NM_001609.3(ACADSB):c.*2224A>C | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000333093] | Chr10:123055989 [GRCh38] Chr10:124815505 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.*3390C>A | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000333189] | Chr10:123057155 [GRCh38] Chr10:124816671 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.*3470T>C | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000260801] | Chr10:123057235 [GRCh38] Chr10:124816751 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.1128+3A>T | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000334212] | Chr10:123051189 [GRCh38] Chr10:124810705 [GRCh37] Chr10:10q26.13 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001609.3(ACADSB):c.-87G>T | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000383769] | Chr10:123008943 [GRCh38] Chr10:124768459 [GRCh37] Chr10:10q26.13 |
benign|likely benign |
NM_001609.3(ACADSB):c.*2175A>C | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000294418] | Chr10:123055940 [GRCh38] Chr10:124815456 [GRCh37] Chr10:10q26.13 |
benign |
NM_001609.3(ACADSB):c.42G>T (p.Leu14=) | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000294756] | Chr10:123009071 [GRCh38] Chr10:124768587 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.*4467A>T | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000313652] | Chr10:123058232 [GRCh38] Chr10:124817748 [GRCh37] Chr10:10q26.13 |
benign |
NM_001609.3(ACADSB):c.92A>G (p.His31Arg) | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000335660] | Chr10:123034405 [GRCh38] Chr10:124793921 [GRCh37] Chr10:10q26.13 |
benign|likely benign |
NM_001609.3(ACADSB):c.*2331C>G | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000336069] | Chr10:123056096 [GRCh38] Chr10:124815612 [GRCh37] Chr10:10q26.13 |
benign |
NM_001609.3(ACADSB):c.*1920G>T | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000358673] | Chr10:123055685 [GRCh38] Chr10:124815201 [GRCh37] Chr10:10q26.13 |
likely benign|uncertain significance |
NM_001609.3(ACADSB):c.*473G>C | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000359220] | Chr10:123054238 [GRCh38] Chr10:124813754 [GRCh37] Chr10:10q26.13 |
benign|uncertain significance |
NM_001609.3(ACADSB):c.*1202G>A | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000384828] | Chr10:123054967 [GRCh38] Chr10:124814483 [GRCh37] Chr10:10q26.13 |
benign|uncertain significance |
NM_001609.3(ACADSB):c.*78C>T | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000407496] | Chr10:123053843 [GRCh38] Chr10:124813359 [GRCh37] Chr10:10q26.13 |
likely benign|uncertain significance |
NM_001609.3(ACADSB):c.*2329A>G | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000279149] | Chr10:123056094 [GRCh38] Chr10:124815610 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.*2174A>G | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000386169] | Chr10:123055939 [GRCh38] Chr10:124815455 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.*2803T>C | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000361871] | Chr10:123056568 [GRCh38] Chr10:124816084 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.786G>A (p.Pro262=) | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000363191] | Chr10:123043150 [GRCh38] Chr10:124802666 [GRCh37] Chr10:10q26.13 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001609.3(ACADSB):c.1156A>G (p.Ile386Val) | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000388285] | Chr10:123053088 [GRCh38] Chr10:124812604 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.*497C>T | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000264508] | Chr10:123054262 [GRCh38] Chr10:124813778 [GRCh37] Chr10:10q26.13 |
benign|likely benign |
NM_001609.3(ACADSB):c.1228+8G>C | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000281119] | Chr10:123053168 [GRCh38] Chr10:124812684 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.*1826C>T | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000298272] | Chr10:123055591 [GRCh38] Chr10:124815107 [GRCh37] Chr10:10q26.13 |
likely benign|uncertain significance |
NM_001609.3(ACADSB):c.*277A>T | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000298457] | Chr10:123054042 [GRCh38] Chr10:124813558 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.*2529G>A | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000339633] | Chr10:123056294 [GRCh38] Chr10:124815810 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.*3819A>G | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000340597] | Chr10:123057584 [GRCh38] Chr10:124817100 [GRCh37] Chr10:10q26.13 |
benign |
NM_001609.3(ACADSB):c.*2227A>G | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000389835] | Chr10:123055992 [GRCh38] Chr10:124815508 [GRCh37] Chr10:10q26.13 |
likely benign|uncertain significance |
NM_001609.3(ACADSB):c.38G>A (p.Arg13Lys) | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000389649] | Chr10:123009067 [GRCh38] Chr10:124768583 [GRCh37] Chr10:10q26.13 |
benign |
NM_001609.3(ACADSB):c.168A>G (p.Thr56=) | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000281775] | Chr10:123034481 [GRCh38] Chr10:124793997 [GRCh37] Chr10:10q26.13 |
benign|likely benign |
NM_001609.3(ACADSB):c.*358T>C | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000318215] | Chr10:123054123 [GRCh38] Chr10:124813639 [GRCh37] Chr10:10q26.13 |
benign|uncertain significance |
NM_001609.3(ACADSB):c.*2957T>A | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000364695] | Chr10:123056722 [GRCh38] Chr10:124816238 [GRCh37] Chr10:10q26.13 |
benign|likely benign |
NM_001609.3(ACADSB):c.*1868C>G | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000391155] | Chr10:123055633 [GRCh38] Chr10:124815149 [GRCh37] Chr10:10q26.13 |
benign |
NM_001609.3(ACADSB):c.*2490T>C | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000282249] | Chr10:123056255 [GRCh38] Chr10:124815771 [GRCh37] Chr10:10q26.13 |
benign |
NM_001609.3(ACADSB):c.639C>T (p.His213=) | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000342475] | Chr10:123041337 [GRCh38] Chr10:124800853 [GRCh37] Chr10:10q26.13 |
benign |
NM_001609.3(ACADSB):c.*3299C>G | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000367964] | Chr10:123057064 [GRCh38] Chr10:124816580 [GRCh37] Chr10:10q26.13 |
benign|uncertain significance |
NM_001609.3(ACADSB):c.*4426T>C | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000393082] | Chr10:123058191 [GRCh38] Chr10:124817707 [GRCh37] Chr10:10q26.13 |
benign |
NM_001609.3(ACADSB):c.*2922G>A | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000393800] | Chr10:123056687 [GRCh38] Chr10:124816203 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.681+14C>T | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000393880] | Chr10:123041393 [GRCh38] Chr10:124800909 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.*3619T>C | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000283073] | Chr10:123057384 [GRCh38] Chr10:124816900 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.*323G>A | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000263103] | Chr10:123054088 [GRCh38] Chr10:124813604 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.-39G>A | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000275300] | Chr10:123008991 [GRCh38] Chr10:124768507 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.-102dup | duplication | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000264436] | Chr10:123008921..123008922 [GRCh38] Chr10:124768437..124768438 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_001609.3(ACADSB):c.*3340G>C | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000275739] | Chr10:123057105 [GRCh38] Chr10:124816621 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.*1942C>T | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000266403] | Chr10:123055707 [GRCh38] Chr10:124815223 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.*2339G>A | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000399084] | Chr10:123056104 [GRCh38] Chr10:124815620 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.*3993T>A | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000399847] | Chr10:123057758 [GRCh38] Chr10:124817274 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.*59G>A | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000346075] | Chr10:123053824 [GRCh38] Chr10:124813340 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.*1508C>T | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000400992] | Chr10:123055273 [GRCh38] Chr10:124814789 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.1170G>T (p.Gly390=) | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000316323] | Chr10:123053102 [GRCh38] Chr10:124812618 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.-102G>C | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000363948] | Chr10:123008928 [GRCh38] Chr10:124768444 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.*2060G>A | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000364274] | Chr10:123055825 [GRCh38] Chr10:124815341 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.*2686G>C | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000304869] | Chr10:123056451 [GRCh38] Chr10:124815967 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.*3483T>G | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000318304] | Chr10:123057248 [GRCh38] Chr10:124816764 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.*4177G>A | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000348900] | Chr10:123057942 [GRCh38] Chr10:124817458 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.*1543G>T | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000294832] | Chr10:123055308 [GRCh38] Chr10:124814824 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.*2950A>G | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000307647] | Chr10:123056715 [GRCh38] Chr10:124816231 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.429C>T (p.Asn143=) | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000336689] | Chr10:123040591 [GRCh38] Chr10:124800107 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.*1682T>C | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000352003] | Chr10:123055447 [GRCh38] Chr10:124814963 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.1062T>C (p.Ala354=) | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000369016]|not provided [RCV000919678] | Chr10:123051120 [GRCh38] Chr10:124810636 [GRCh37] Chr10:10q26.13 |
likely benign|uncertain significance |
NM_001609.3(ACADSB):c.-123G>A | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000368269] | Chr10:123008907 [GRCh38] Chr10:124768423 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_001609.3(ACADSB):c.682-7T>C | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000308487] | Chr10:123043039 [GRCh38] Chr10:124802555 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.*3918G>A | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000286832] | Chr10:123057683 [GRCh38] Chr10:124817199 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.*3431C>G | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000371542] | Chr10:123057196 [GRCh38] Chr10:124816712 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.*1754A>G | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000391212] | Chr10:123055519 [GRCh38] Chr10:124815035 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.*57G>A | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000309908] | Chr10:123053822 [GRCh38] Chr10:124813338 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.*1840T>G | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000355366] | Chr10:123055605 [GRCh38] Chr10:124815121 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.4(ACADSB):c.1228+21del | deletion | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000340849] | Chr10:123053170 [GRCh38] Chr10:124812686 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.544G>T (p.Gly182Cys) | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000393883] | Chr10:123041242 [GRCh38] Chr10:124800758 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.*1195C>A | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000289238] | Chr10:123054960 [GRCh38] Chr10:124814476 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.*1907C>T | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000301576] | Chr10:123055672 [GRCh38] Chr10:124815188 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.*3941C>A | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000344107] | Chr10:123057706 [GRCh38] Chr10:124817222 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.*973A>G | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000378854] | Chr10:123054738 [GRCh38] Chr10:124814254 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.1128+2_1128+3insTA | insertion | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000550239] | Chr10:123051188..123051189 [GRCh38] Chr10:124810704..124810705 [GRCh37] Chr10:10q26.13 |
uncertain significance |
GRCh37/hg19 10q26.12-26.3(chr10:122125760-135062972)x3 | copy number gain | See cases [RCV000449169] | Chr10:122125760..135062972 [GRCh37] Chr10:10q26.12-26.3 |
likely pathogenic |
GRCh37/hg19 10q26.13-26.3(chr10:124147428-135370736)x1 | copy number loss | See cases [RCV000449336] | Chr10:124147428..135370736 [GRCh37] Chr10:10q26.13-26.3 |
pathogenic |
GRCh37/hg19 10q24.32-26.3(chr10:104633712-135427143)x3 | copy number gain | See cases [RCV000449386] | Chr10:104633712..135427143 [GRCh37] Chr10:10q24.32-26.3 |
pathogenic |
GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143)x1 | copy number loss | See cases [RCV000446095] | Chr10:122343861..135427143 [GRCh37] Chr10:10q26.12-26.3 |
pathogenic |
GRCh37/hg19 10q24.2-26.3(chr10:100780957-135427143)x3 | copy number gain | See cases [RCV000446733] | Chr10:100780957..135427143 [GRCh37] Chr10:10q24.2-26.3 |
pathogenic |
NM_001609.3(ACADSB):c.1186A>G (p.Lys396Glu) | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000558102]|not provided [RCV000421540] | Chr10:123053118 [GRCh38] Chr10:124812634 [GRCh37] Chr10:10q26.13 |
uncertain significance |
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 | copy number gain | See cases [RCV000448750] | Chr10:93297..135378918 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
NM_001609.3(ACADSB):c.1194C>G (p.Tyr398Ter) | single nucleotide variant | not provided [RCV000494311] | Chr10:123053126 [GRCh38] Chr10:124812642 [GRCh37] Chr10:10q26.13 |
likely pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) | copy number gain | See cases [RCV000511389] | Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic|uncertain significance |
GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3 | copy number gain | See cases [RCV000510813] | Chr10:106003533..135427143 [GRCh37] Chr10:10q25.1-26.3 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 | copy number gain | See cases [RCV000510861] | Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3 | copy number gain | See cases [RCV000510972] | Chr10:93283493..135427143 [GRCh37] Chr10:10q23.32-26.3 |
pathogenic |
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 | copy number loss | PARP Inhibitor response [RCV000626438] | Chr10:42347406..135534747 [GRCh37] Chr10:10q11.21-26.3 |
drug response |
NM_001609.3(ACADSB):c.958A>T (p.Ile320Leu) | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000538467] | Chr10:123047266 [GRCh38] Chr10:124806782 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.42G>A (p.Leu14=) | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000644761] | Chr10:123009071 [GRCh38] Chr10:124768587 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.1014C>T (p.His338=) | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000644762] | Chr10:123051072 [GRCh38] Chr10:124810588 [GRCh37] Chr10:10q26.13 |
benign |
GRCh37/hg19 10q26.12-26.3(chr10:122509781-135427143)x1 | copy number loss | not provided [RCV000683287] | Chr10:122509781..135427143 [GRCh37] Chr10:10q26.12-26.3 |
pathogenic |
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3 | copy number gain | not provided [RCV000683291] | Chr10:94346520..135427143 [GRCh37] Chr10:10q23.33-26.3 |
pathogenic |
GRCh37/hg19 10q26.12-26.3(chr10:123019239-135427143)x1 | copy number loss | not provided [RCV000683286] | Chr10:123019239..135427143 [GRCh37] Chr10:10q26.12-26.3 |
pathogenic |
GRCh37/hg19 10q26.11-26.3(chr10:121269222-135427143)x3 | copy number gain | not provided [RCV000683288] | Chr10:121269222..135427143 [GRCh37] Chr10:10q26.11-26.3 |
pathogenic |
GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3 | copy number gain | not provided [RCV000683290] | Chr10:105613040..135427143 [GRCh37] Chr10:10q24.33-26.3 |
pathogenic |
NC_000010.11:g.(?_123034356)_(123041379_?)del | deletion | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000707953] | Chr10:123034356..123041379 [GRCh38] Chr10:124793872..124800895 [GRCh37] Chr10:10q26.13 |
likely pathogenic |
NM_001609.3(ACADSB):c.655G>A (p.Val219Met) | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000699781] | Chr10:123041353 [GRCh38] Chr10:124800869 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.334G>A (p.Gly112Arg) | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000696550] | Chr10:123040496 [GRCh38] Chr10:124800012 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.176A>G (p.Asp59Gly) | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000692041] | Chr10:123034489 [GRCh38] Chr10:124794005 [GRCh37] Chr10:10q26.13 |
uncertain significance |
GRCh37/hg19 10q26.12-26.3(chr10:122443197-135477883)x1 | copy number loss | not provided [RCV000737305] | Chr10:122443197..135477883 [GRCh37] Chr10:10q26.12-26.3 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 | copy number gain | not provided [RCV000749464] | Chr10:73232..135524321 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 | copy number gain | not provided [RCV000749465] | Chr10:98087..135477883 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
NM_001609.4(ACADSB):c.303+5A>G | single nucleotide variant | not provided [RCV000994523] | Chr10:123037852 [GRCh38] Chr10:124797368 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.4(ACADSB):c.1128+21_1128+26dup | duplication | not provided [RCV000965156] | Chr10:123051188..123051189 [GRCh38] Chr10:124810704..124810705 [GRCh37] Chr10:10q26.13 |
benign |
NM_001609.4(ACADSB):c.1128+22_1128+26del | deletion | not provided [RCV000870893] | Chr10:123051189..123051193 [GRCh38] Chr10:124810705..124810709 [GRCh37] Chr10:10q26.13 |
benign |
NM_001609.4(ACADSB):c.1101G>A (p.Ala367=) | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000904888] | Chr10:123051159 [GRCh38] Chr10:124810675 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_001609.4(ACADSB):c.1060G>A (p.Ala354Thr) | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001051355] | Chr10:123051118 [GRCh38] Chr10:124810634 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.1128+2_1128+4del | deletion | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000779018] | Chr10:123051188..123051190 [GRCh38] Chr10:124810704..124810706 [GRCh37] Chr10:10q26.13 |
uncertain significance |
GRCh37/hg19 10q25.3-26.13(chr10:117024753-124942806) | copy number loss | Chromosome 10q26 deletion syndrome [RCV000767564] | Chr10:117024753..124942806 [GRCh37] Chr10:10q25.3-26.13 |
pathogenic |
NM_001609.4(ACADSB):c.726G>A (p.Pro242=) | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000872874] | Chr10:123043090 [GRCh38] Chr10:124802606 [GRCh37] Chr10:10q26.13 |
benign |
NM_001609.4(ACADSB):c.452G>A (p.Arg151Lys) | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000871736] | Chr10:123040614 [GRCh38] Chr10:124800130 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_001609.3(ACADSB):c.1213C>T (p.Arg405Ter) | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000779019] | Chr10:123053145 [GRCh38] Chr10:124812661 [GRCh37] Chr10:10q26.13 |
uncertain significance |
GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095) | copy number gain | not provided [RCV000767665] | Chr10:110022170..135439095 [GRCh37] Chr10:10q25.1-26.3 |
pathogenic |
NM_001609.4(ACADSB):c.375dup (p.Glu126fs) | duplication | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000816249] | Chr10:123040536..123040537 [GRCh38] Chr10:124800052..124800053 [GRCh37] Chr10:10q26.13 |
pathogenic |
NM_001609.3(ACADSB):c.260C>T (p.Ser87Leu) | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000805891] | Chr10:123037804 [GRCh38] Chr10:124797320 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.370G>C (p.Val124Leu) | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000822395] | Chr10:123040532 [GRCh38] Chr10:124800048 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.1165A>G (p.Met389Val) | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000822836] | Chr10:123053097 [GRCh38] Chr10:124812613 [GRCh37] Chr10:10q26.13 |
pathogenic |
NM_001609.3(ACADSB):c.1145C>T (p.Thr382Met) | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000817599] | Chr10:123053077 [GRCh38] Chr10:124812593 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.4(ACADSB):c.1128+20_1128+26dup | duplication | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000988457] | Chr10:123051188..123051189 [GRCh38] Chr10:124810704..124810705 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_001609.3(ACADSB):c.67T>G (p.Leu23Val) | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000810106] | Chr10:123034380 [GRCh38] Chr10:124793896 [GRCh37] Chr10:10q26.13 |
uncertain significance |
GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3 | copy number gain | not provided [RCV000847820] | Chr10:114544537..135427143 [GRCh37] Chr10:10q25.2-26.3 |
pathogenic |
NM_001609.4(ACADSB):c.1228+2T>C | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001095659] | Chr10:123053162 [GRCh38] Chr10:124812678 [GRCh37] Chr10:10q26.13 |
likely pathogenic |
NM_001609.3(ACADSB):c.1168G>A (p.Gly390Arg) | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000816689] | Chr10:123053100 [GRCh38] Chr10:124812616 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.3(ACADSB):c.1154G>A (p.Cys385Tyr) | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000795375] | Chr10:123053086 [GRCh38] Chr10:124812602 [GRCh37] Chr10:10q26.13 |
uncertain significance |
GRCh37/hg19 10q26.11-26.3(chr10:119996339-135427143)x3 | copy number gain | not provided [RCV001006356] | Chr10:119996339..135427143 [GRCh37] Chr10:10q26.11-26.3 |
pathogenic |
NM_001609.4(ACADSB):c.1219G>A (p.Ala407Thr) | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001104850] | Chr10:123053151 [GRCh38] Chr10:124812667 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.4(ACADSB):c.*2224A>G | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001105056] | Chr10:123055989 [GRCh38] Chr10:124815505 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_001609.4(ACADSB):c.*263G>A | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001108232] | Chr10:123054028 [GRCh38] Chr10:124813544 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.4(ACADSB):c.*3332A>T | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001108421] | Chr10:123057097 [GRCh38] Chr10:124816613 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.4(ACADSB):c.1229-15T>G | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001106011] | Chr10:123053680 [GRCh38] Chr10:124813196 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.4(ACADSB):c.45A>C (p.Leu15=) | single nucleotide variant | not provided [RCV000980035] | Chr10:123034358 [GRCh38] Chr10:124793874 [GRCh37] Chr10:10q26.13 |
benign |
NM_001609.4(ACADSB):c.1128+24_1128+25insGAAAAAAAAAAAAAAAAAAAAAAA | insertion | not provided [RCV000887968] | Chr10:123051188..123051189 [GRCh38] Chr10:124810704..124810705 [GRCh37] Chr10:10q26.13 |
benign |
NM_001609.4(ACADSB):c.960A>T (p.Ile320=) | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001102936]|not provided [RCV000885494] | Chr10:123047268 [GRCh38] Chr10:124806784 [GRCh37] Chr10:10q26.13 |
likely benign|uncertain significance |
NM_001609.4(ACADSB):c.*1552A>G | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001106111] | Chr10:123055317 [GRCh38] Chr10:124814833 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.4(ACADSB):c.675T>C (p.Pro225=) | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001108151] | Chr10:123041373 [GRCh38] Chr10:124800889 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.4(ACADSB):c.*133C>G | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001108230] | Chr10:123053898 [GRCh38] Chr10:124813414 [GRCh37] Chr10:10q26.13 |
benign |
NM_001609.4(ACADSB):c.653dup (p.Val219fs) | duplication | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001065913] | Chr10:123041350..123041351 [GRCh38] Chr10:124800866..124800867 [GRCh37] Chr10:10q26.13 |
pathogenic |
NM_001609.4(ACADSB):c.*3911A>G | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001105155] | Chr10:123057676 [GRCh38] Chr10:124817192 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.4(ACADSB):c.154G>A (p.Ala52Thr) | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001217992] | Chr10:123034467 [GRCh38] Chr10:124793983 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NC_000010.11:g.123009002G>T | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001104770] | Chr10:123009002 [GRCh38] Chr10:124768518 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.4(ACADSB):c.*1865C>T | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001108327] | Chr10:123055630 [GRCh38] Chr10:124815146 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.4(ACADSB):c.*3178A>C | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001108419] | Chr10:123056943 [GRCh38] Chr10:124816459 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.4(ACADSB):c.1151A>T (p.Lys384Ile) | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001104848] | Chr10:123053083 [GRCh38] Chr10:124812599 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.4(ACADSB):c.*84G>A | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001106012] | Chr10:123053849 [GRCh38] Chr10:124813365 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.4(ACADSB):c.*2581A>C | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001106200] | Chr10:123056346 [GRCh38] Chr10:124815862 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.4(ACADSB):c.*2670C>T | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001106201] | Chr10:123056435 [GRCh38] Chr10:124815951 [GRCh37] Chr10:10q26.13 |
benign |
NM_001609.4(ACADSB):c.*2086G>A | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001103145] | Chr10:123055851 [GRCh38] Chr10:124815367 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_001609.4(ACADSB):c.*3517A>G | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001103240] | Chr10:123057282 [GRCh38] Chr10:124816798 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_001609.4(ACADSB):c.496C>G (p.Leu166Val) | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001108149] | Chr10:123040658 [GRCh38] Chr10:124800174 [GRCh37] Chr10:10q26.13 |
uncertain significance |
ACADSB, IVS3DS, A-G, +1 | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001172543] | Chr10:10q26.13 | pathogenic |
NM_001609.4(ACADSB):c.219G>A (p.Gln73=) | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001105902] | Chr10:123037763 [GRCh38] Chr10:124797279 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.4(ACADSB):c.*1981G>A | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001103144] | Chr10:123055746 [GRCh38] Chr10:124815262 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.4(ACADSB):c.*3736G>T | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001103241] | Chr10:123057501 [GRCh38] Chr10:124817017 [GRCh37] Chr10:10q26.13 |
benign |
NM_001609.4(ACADSB):c.1232C>T (p.Thr411Met) | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001054860] | Chr10:123053698 [GRCh38] Chr10:124813214 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NC_000010.11:g.123008921A>T | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001104769] | Chr10:123008921 [GRCh38] Chr10:124768437 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.4(ACADSB):c.*972A>G | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001104955] | Chr10:123054737 [GRCh38] Chr10:124814253 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.4(ACADSB):c.-19G>C | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001105901] | Chr10:123009011 [GRCh38] Chr10:124768527 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.4(ACADSB):c.*1827G>A | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001106112] | Chr10:123055592 [GRCh38] Chr10:124815108 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.4(ACADSB):c.*4324G>T | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001106283] | Chr10:123058089 [GRCh38] Chr10:124817605 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.4(ACADSB):c.512T>G (p.Val171Gly) | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001108150] | Chr10:123041210 [GRCh38] Chr10:124800726 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.4(ACADSB):c.*195G>A | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001108231] | Chr10:123053960 [GRCh38] Chr10:124813476 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.4(ACADSB):c.*3321C>T | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001108420] | Chr10:123057086 [GRCh38] Chr10:124816602 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.4(ACADSB):c.*498G>A | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001103042] | Chr10:123054263 [GRCh38] Chr10:124813779 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.4(ACADSB):c.*808G>A | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001103043] | Chr10:123054573 [GRCh38] Chr10:124814089 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.4(ACADSB):c.*808G>C | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001103044] | Chr10:123054573 [GRCh38] Chr10:124814089 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.4(ACADSB):c.*3409A>T | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001103239] | Chr10:123057174 [GRCh38] Chr10:124816690 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.4(ACADSB):c.1102T>C (p.Ser368Pro) | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001063034] | Chr10:123051160 [GRCh38] Chr10:124810676 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.4(ACADSB):c.1184C>T (p.Thr395Ile) | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001104849] | Chr10:123053116 [GRCh38] Chr10:124812632 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.4(ACADSB):c.*1326A>G | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001104956] | Chr10:123055091 [GRCh38] Chr10:124814607 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_001609.4(ACADSB):c.*1380G>A | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001104957] | Chr10:123055145 [GRCh38] Chr10:124814661 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.4(ACADSB):c.1219G>T (p.Ala407Ser) | single nucleotide variant | Microcephaly [RCV001252748] | Chr10:123053151 [GRCh38] Chr10:124812667 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001609.4(ACADSB):c.682-349C>A | single nucleotide variant | Seizures [RCV001255065] | Chr10:123042697 [GRCh38] Chr10:124802213 [GRCh37] Chr10:10q26.13 |
uncertain significance |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:91 | AgrOrtholog |
COSMIC | ACADSB | COSMIC |
Ensembl Genes | ENSG00000196177 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Protein | ENSP00000357862 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSP00000357873 | ENTREZGENE, UniProtKB/Swiss-Prot | |
Ensembl Transcript | ENST00000358776 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENST00000368869 | ENTREZGENE, UniProtKB/Swiss-Prot | |
Gene3D-CATH | 1.10.540.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000196177 | GTEx |
HGNC ID | HGNC:91 | ENTREZGENE |
Human Proteome Map | ACADSB | Human Proteome Map |
InterPro | Acyl-CoA_DH_CS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Acyl-CoA_Oxase/DH_cen-dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
AcylCo_DH-like_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
AcylCo_DH/oxidase_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
AcylCoA_DH/ox_N | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
AcylCoA_DH/ox_N_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
AcylCoA_DH/oxidase_NM_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:36 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NCBI Gene | 36 | ENTREZGENE |
OMIM | 600301 | OMIM |
610006 | OMIM | |
Pfam | Acyl-CoA_dh_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Acyl-CoA_dh_M | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Acyl-CoA_dh_N | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA24427 | PharmGKB |
PROSITE | ACYL_COA_DH_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
ACYL_COA_DH_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | SSF47203 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF56645 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | A0A0S2Z374_HUMAN | UniProtKB/TrEMBL |
A0A0S2Z3P9 | ENTREZGENE, UniProtKB/TrEMBL | |
ACDSB_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE | |
UniProt Secondary | B4DQ51 | UniProtKB/Swiss-Prot |
Q5SQN6 | UniProtKB/Swiss-Prot | |
Q96CX7 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2017-10-04 | ACADSB | acyl-CoA dehydrogenase short/branched chain | acyl-CoA dehydrogenase, short/branched chain | Symbol and/or name change | 5135510 | APPROVED | |
2011-08-17 | ACADSB | acyl-CoA dehydrogenase, short/branched chain | ACADSB | acyl-CoA dehydrogenase, short/branched chain | Symbol and/or name change | 5135510 | APPROVED |
2011-07-27 | ACADSB | acyl-CoA dehydrogenase, short/branched chain | ACADSB | acyl-Coenzyme A dehydrogenase, short/branched chain | Symbol and/or name change | 5135510 | APPROVED |