Full data view for gene ACADSB

Information The variants shown are described using the NM_001609.3 transcript reference sequence.

78 entries on 1 page. Showing entries 1 - 78.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
./. - c.-1617735_*10567654dup - - Unknown - pathogenic g.123150811_135380935dup - - - ACADSB_000015 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) F - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
-/. - c.42+3574A>G r.(=) p.(=) Unknown - benign g.124772161A>G - ACADSB(NM_001609.3):c.42+3574A>G - ACADSB_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.43-6825T>C r.(=) p.(=) Unknown - benign g.124787047T>C - ACADSB(NM_001609.3):c.43-6825T>C - ACADSB_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.43-6754G>A r.(=) p.(=) Unknown - benign g.124787118G>A - ACADSB(NM_001609.3):c.43-6754G>A - ACADSB_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.43-6640C>T r.(=) p.(=) Unknown - benign g.124787232C>T - ACADSB(NM_001609.3):c.43-6640C>T - ACADSB_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.43-275A>G r.(=) p.(=) Unknown - benign g.124793597A>G - ACADSB(NM_001609.3):c.43-275A>G - ACADSB_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.43-156dup r.(=) p.(=) Unknown - benign g.124793716dup - ACADSB(NM_001609.3):c.43-156dupA - ACADSB_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.295C>T r.(?) p.Gln99* Paternal (inferred) - pathogenic g.124797355C>T g.123037839C>T - - ACADSB_000012 - PubMed: Alfardan et al. 2010 - - Unknown ? - - - - DNA SEQ - - SBCADD - PubMed: Alfardan 2010 - ? ? India - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 3 c.295C>T r.(?) p.Gln99* Maternal (inferred) - pathogenic g.124797355C>T g.123037839C>T - - ACADSB_000012 - PubMed: Alfardan et al. 2010 - - Unknown ? - - - - DNA SEQ - - SBCADD - PubMed: Alfardan 2010 - ? ? India - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 3i c.303+1G>A r.spl p.? Paternal (inferred) - pathogenic g.124797364G>A g.123037848G>A - - ACADSB_000014 - PubMed: Alfardan et al. 2010 - - Unknown ? - - - - DNA SEQ - - SBCADD - PubMed: Alfardan 2010 - F ? - European - - - - 1 Division of Human Genetics, Innsbruck
+/+ 3i c.303+1G>A r.spl p.? Paternal (inferred) - pathogenic g.124797364G>A g.123037848G>A - - ACADSB_000014 - PubMed: Alfardan et al. 2010 - - Unknown ? - - - - DNA SEQ - - SBCADD - Submitted by J. Zschocke - F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 3i c.303+1G>A r.spl p.? Maternal (inferred) - pathogenic g.124797364G>A g.123037848G>A - - ACADSB_000014 - PubMed: Alfardan et al. 2010 - - Unknown ? - - - - DNA SEQ - - SBCADD - PubMed: Alfardan 2010 - F ? - European - - - - 1 Division of Human Genetics, Innsbruck
+/+ 3i c.303+1G>A r.spl p.? Maternal (inferred) - pathogenic g.124797364G>A g.123037848G>A - - ACADSB_000014 - PubMed: Alfardan et al. 2010 - - Unknown ? - - - - DNA SEQ - - SBCADD - Submitted by J. Zschocke - F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 3i c.303+3A>G r.203_303del p.? Unknown - pathogenic g.124797366A>G g.123037850A>G - - ACADSB_000004 mutation causes exon 3 skipping PubMed: Madsen et al. 2006 - - Unknown ? - - - - DNA, RNA RT-PCR - - SBCADD - PubMed: Madsen 2006 sister of Patient 2 in Madsen 2006, e.g. sister of patient in Gibson 2000 F ? - white/Eritrean, Euorpe, North - - - - 1 Division of Human Genetics, Innsbruck
+/+ 3i c.303+3A>G r.spl p.? Paternal (inferred) - pathogenic g.124797366A>G g.123037850A>G - - ACADSB_000004 - PubMed: Madsen et al. 2006 - - Unknown ? - - - - DNA SEQ - - SBCADD - PubMed: Kanavin 2007 Patient described in Kanavin et al. (2007) M ? Somalia African - - - - 1 Division of Human Genetics, Innsbruck
+/+ 3i c.303+3A>G r.203_303del p.? Paternal (inferred) - pathogenic g.124797366A>G g.123037850A>G - - ACADSB_000004 mutation causes exon 3 skipping PubMed: Madsen et al. 2006 - - Unknown ? - - - - DNA SEQ - - SBCADD - PubMed: Madsen 2006 Patient 1 in Madsen et al. (2006) M ? Somalia African - - - - 1 Division of Human Genetics, Innsbruck
+/+ 3i c.303+3A>G r.203_303del p.? Paternal (inferred) - pathogenic g.124797366A>G g.123037850A>G - - ACADSB_000004 mutation causes exon 3 skipping PubMed: Madsen et al. 2006 - - Unknown ? - - - - DNA SEQ - - SBCADD - PubMed: Gibson 2000, PubMed: Madsen 2006 Patient described in Gibson et al. (2000) and Madsen et al. (2006) (Pat 2) M ? - white/Eritrean - - - - 1 Division of Human Genetics, Innsbruck
+/+ 3i c.303+3A>G r.spl p.? Maternal (inferred) - pathogenic g.124797366A>G g.123037850A>G - - ACADSB_000004 - PubMed: Madsen et al. 2006 - - Unknown ? - - - - DNA SEQ - - SBCADD - PubMed: Kanavin 2007 Patient described in Kanavin et al. (2007) M ? Somalia African - - - - 1 Division of Human Genetics, Innsbruck
+/+ 3i c.303+3A>G r.203_303del p.? Maternal (inferred) - pathogenic g.124797366A>G g.123037850A>G - - ACADSB_000004 mutation causes exon 3 skipping PubMed: Madsen et al. 2006 - - Unknown ? - - - - DNA SEQ - - SBCADD - PubMed: Madsen 2006 Patient 1 in Madsen et al. (2006) M ? Somalia African - - - - 1 Division of Human Genetics, Innsbruck
+/. - c.303+3A>G r.spl? p.? Unknown - pathogenic g.124797366A>G - ACADSB(NM_001609.3):c.303+3A>G - ACADSB_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.303+125A>C r.(=) p.(=) Unknown - benign g.124797488A>C - ACADSB(NM_001609.3):c.303+125A>C - ACADSB_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.304-98_304-96del r.(=) p.(=) Unknown - benign g.124799884_124799886del - ACADSB(NM_001609.3):c.304-98_304-96delTAA - ACADSB_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.304-7T>C r.(=) p.(=) Unknown - likely benign g.124799975T>C - ACADSB(NM_001609.4):c.304-7T>C - chr10_006715 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.439A>T r.(?) p.(Asn147Tyr) Unknown - VUS g.124800117A>T g.123040601A>T ACADSB(NM_001609.3):c.439A>T (p.N147Y) - ACADSB_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 4 c.443C>T r.(?) p.Thr148Ile Paternal (inferred) - likely pathogenic g.124800121C>T g.123040605C>T - - ACADSB_000007 - PubMed: Korman et al. 2005 - rs58639322 Unknown ? - - - - DNA SEQ - - SBCADD - PubMed: Sass 2008 sister of Patient 3 in Sass (2008) F ? Turkey white - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 4 c.443C>T r.(?) p.Thr148Ile Paternal (inferred) - likely pathogenic g.124800121C>T g.123040605C>T - - ACADSB_000007 - PubMed: Korman et al. 2005 - rs58639322 Unknown ? - - - - DNA SEQ - - SBCADD - PubMed: Sass 2008 brother of patient 2 in Sass (2008) M ? Turkey - - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 4 c.443C>T r.(?) p.Thr148Ile Unknown - likely pathogenic g.124800121C>T g.123040605C>T - - ACADSB_000007 - PubMed: Korman et al. 2005 - rs58639322 Unknown ? - - - - DNA SEQ - - SBCADD - PubMed: Sass 2008 brother of patient 6 in Sass (2008) M ? Lebanon Arabic - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 4 c.443C>T r.(?) p.Thr148Ile Unknown - likely pathogenic g.124800121C>T g.123040605C>T - - ACADSB_000007 - PubMed: Korman et al. 2005 - rs58639322 Unknown ? - - - - DNA SEQ - - SBCADD - PubMed: Sass 2008 brother of patient 5 in Sass (2008) M ? Lebanon Arabic - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 4 c.443C>T r.(?) p.Thr148Ile Paternal (inferred) - likely pathogenic g.124800121C>T g.123040605C>T - - ACADSB_000007 - PubMed: Korman et al. 2005 - rs58639322 Unknown ? - - - - DNA SEQ - - SBCADD - PubMed: Korman 2005 - ? ? - - - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 4 c.443C>T r.(?) p.Thr148Ile Unknown - likely pathogenic g.124800121C>T g.123040605C>T - - ACADSB_000007 - PubMed: Korman et al. 2005 - rs58639322 Unknown ? - - - - DNA SEQ - - SBCADD - PubMed: Alfardan 2010 - ? ? - - - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 4 c.443C>T r.(?) p.Thr148Ile Maternal (inferred) - likely pathogenic g.124800121C>T g.123040605C>T - - ACADSB_000007 - PubMed: Korman et al. 2005 - rs58639322 Unknown ? - - - - DNA SEQ - - SBCADD - PubMed: Sass 2008 sister of Patient 3 in Sass (2008) F ? Turkey white - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 4 c.443C>T r.(?) p.Thr148Ile Maternal (inferred) - likely pathogenic g.124800121C>T g.123040605C>T - - ACADSB_000007 - PubMed: Korman et al. 2005 - rs58639322 Unknown ? - - - - DNA SEQ - - SBCADD - PubMed: Sass 2008 brother of patient 2 in Sass (2008) M ? Turkey - - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 4 c.443C>T r.(?) p.Thr148Ile Maternal (inferred) - likely pathogenic g.124800121C>T g.123040605C>T - - ACADSB_000007 - PubMed: Korman et al. 2005 - rs58639322 Unknown ? - - - - DNA SEQ - - SBCADD - PubMed: Korman 2005 - ? ? - - - - - - 1 Division of Human Genetics, Innsbruck
?/. - c.443C>T r.(?) p.(Thr148Ile) Unknown - VUS g.124800121C>T - ACADSB(NM_001609.3):c.443C>T (p.T148I) - ACADSB_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.511-164del r.(=) p.(=) Unknown - benign g.124800561del - ACADSB(NM_001609.3):c.511-164delT - ACADSB_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.621G>A r.(?) p.(Trp207*) Unknown - VUS g.124800835G>A g.123041319G>A - - ACADSB_000013 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/+? 5 c.621G>A r.(?) p.Trp207* Unknown - likely pathogenic g.124800835G>A g.123041319G>A - - ACADSB_000013 unknown variant 2nd chromosome PubMed: Alfardan et al. 2010 - - Unknown ? - - - - DNA SEQ - - SBCADD - PubMed: Alfardan 2010 - ? ? - - - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 6 c.763C>T r.(?) p.Leu255Phe Unknown - likely pathogenic g.124802643C>T g.123043127C>T L222F 788C>T - ACADSB_000005 - PubMed: Gibson et al. 2000 - - Unknown ? - - - - DNA, RNA RT-PCR - - SBCADD - PubMed: Madsen 2006 sister of Patient 2 in Madsen 2006, e.g. sister of patient in Gibson 2000 F ? - white/Eritrean, Euorpe, North - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 6 c.763C>T r.(?) p.Leu255Phe Maternal (confirmed) - likely pathogenic g.124802643C>T g.123043127C>T L222F 788C>T - ACADSB_000005 - PubMed: Gibson et al. 2000 - - Unknown ? - - - - DNA SEQ - - SBCADD - PubMed: Gibson 2000, PubMed: Madsen 2006 Patient described in Gibson et al. (2000) and Madsen et al. (2006) (Pat 2) M ? - white/Eritrean - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 7 c.848A>G r.(?) p.Tyr283Cys Unknown - likely pathogenic g.124803949A>G g.123044433A>G - - ACADSB_000009 - PubMed: Korman et al. 2005 - - Unknown ? - - - - DNA SEQ - - SBCADD - PubMed: Korman 2005 - ? ? - - - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 8 c.908G>C r.(?) p.Gly303Ala Paternal (inferred) - likely pathogenic g.124806732G>C g.123047216G>C - - ACADSB_000010 - PubMed: Korman et al. 2005 - - Unknown ? - - - - DNA SEQ - - SBCADD - PubMed: Korman 2005 - ? ? - - - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 8 c.908G>C r.(?) p.Gly303Ala Maternal (inferred) - likely pathogenic g.124806732G>C g.123047216G>C - - ACADSB_000010 - PubMed: Korman et al. 2005 - - Unknown ? - - - - DNA SEQ - - SBCADD - PubMed: Korman 2005 - ? ? - - - - - - 1 Division of Human Genetics, Innsbruck
?/. - c.1010dup r.(?) p.(His338Serfs*18) Unknown - VUS g.124810584dup - ACADSB(NM_001609.4):c.1010dup (p.(His338Serfs*18)) - ACADSB_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1012dup r.(?) p.(His338Profs*18) Unknown - VUS g.124810586dup - ACADSB(NM_001609.4):c.1012dup (p.(His338Profs*18)) - ACADSB_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1014_1017del r.(?) p.(His338Glnfs*11) Unknown - VUS g.124810588_124810591del - ACADSB(NM_001609.4):c.1014_1017del (p.(His338Glnfs*11)) - ACADSB_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 9 c.1102T>C r.(?) p.Ser368Pro Parent #1 - likely pathogenic g.124810676T>C g.123051160T>C - - ACADSB_000011 - PubMed: Korman et al. 2005 - - Unknown ? - - - - DNA SEQ - - SBCADD - PubMed: Korman 2005 - ? ? - - - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 9 c.1102T>C r.(?) p.Ser368Pro Parent #2 - likely pathogenic g.124810676T>C g.123051160T>C - - ACADSB_000011 - PubMed: Korman et al. 2005 - - Unknown ? - - - - DNA SEQ - - SBCADD - PubMed: Korman 2005 - ? ? - - - - - - 1 Division of Human Genetics, Innsbruck
-?/. - c.1128+20_1128+26del r.(=) p.(=) Unknown - likely benign g.124810722_124810728del g.123051206_123051212del ACADSB(NM_001609.3):c.1128+20_1128+26delAAAAAAA - ACADSB_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1128+23_1128+26del r.(=) p.(=) Unknown - likely benign g.124810725_124810728del - ACADSB(NM_001609.3):c.1128+23_1128+26delAAAA - ACADSB_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1128+24_1128+26del r.(=) p.(=) Unknown - likely benign g.124810726_124810728del g.123051210_123051212del ACADSB(NM_001609.3):c.1128+24_1128+26delAAA - ACADSB_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1128+25_1128+26del r.(=) p.(=) Unknown - likely benign g.124810727_124810728del - ACADSB(NM_001609.3):c.1128+25_1128+26delAA - ACADSB_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1128+26dup r.(=) p.(=) Unknown - benign g.124810728dup g.123051212dup ACADSB(NM_001609.3):c.1128+26dupA - ACADSB_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1129-90A>G r.(=) p.(=) Unknown - benign g.124812487A>G - ACADSB(NM_001609.3):c.1129-90A>G - ACADSB_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1156A>G r.(?) p.(Ile386Val) Unknown - likely benign g.124812604A>G - ACADSB(NM_001609.3):c.1156A>G (p.I386V) - ACADSB_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 10 c.1159G>A r.(?) p.Gln387Lys Paternal (inferred) - likely pathogenic g.124812607G>A g.123053091G>A - - ACADSB_000008 - PubMed: Sass et al. 2008 - - Unknown ? - - - - DNA SEQ - - SBCADD - PubMed: Sass 2008 - F ? Turkey - - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 10 c.1159G>A r.(?) p.Gln387Lys Maternal (inferred) - likely pathogenic g.124812607G>A g.123053091G>A - - ACADSB_000008 - PubMed: Sass et al. 2008 - - Unknown ? - - - - DNA SEQ - - SBCADD - PubMed: Sass 2008 - F ? Turkey - - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 10 c.1159G>A r.(?) p.Gln387Lys Unknown - likely pathogenic g.124812607G>A g.123053091G>A - - ACADSB_000008 - PubMed: Sass et al. 2008 - - Unknown ? - - - - DNA SEQ - - SBCADD - PubMed: Sass 2008 brother of patient 6 in Sass (2008) M ? Lebanon Arabic - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 10 c.1159G>A r.(?) p.Gln387Lys Unknown - likely pathogenic g.124812607G>A g.123053091G>A - - ACADSB_000008 - PubMed: Sass et al. 2008 - - Unknown ? - - - - DNA SEQ - - SBCADD - PubMed: Sass 2008 brother of patient 5 in Sass (2008) M ? Lebanon Arabic - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 10 c.1159G>A r.(?) p.Gln387Lys Unknown - likely pathogenic g.124812607G>A g.123053091G>A - - ACADSB_000008 - PubMed: Sass et al. 2008 - - Unknown ? - - - - DNA SEQ - - SBCADD - PubMed: Alfardan 2010 - ? ? - - - - - - 1 Division of Human Genetics, Innsbruck
?/. - c.1159G>A r.(?) p.(Glu387Lys) Maternal (confirmed) - VUS g.124812607G>A g.123053091G>A - - ACADSB_000008 - - - - Germline - - - - - DNA SEQ-NG-I - - SBCADD - - - - - - - - - - - 1 Belen Perez
?/. - c.1159G>A r.(?) p.(Glu387Lys) Unknown - VUS g.124812607G>A g.123053091G>A ACADSB(NM_001609.3):c.1159G>A (p.E387K) - ACADSB_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1159G>A r.(?) p.(Glu387Lys) Unknown - likely pathogenic g.124812607G>A - ACADSB(NM_001609.3):c.1159G>A (p.E387K) - ACADSB_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1159G>A r.(?) p.(Glu387Lys) Parent #2 - likely pathogenic g.124812607G>A g.123053091G>A - - ACADSB_000008 - PubMed: Navarrete 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 119-gene panel metabolic syndrome Pat18 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
+/+ 10 c.1165A>G r.1129_1228del p.(Met389Val) Unknown - pathogenic g.124812613A>G g.123053097A>G M356V (in mature SBCAD protein) - ACADSB_000003 mutation leads to the complete skipping of exon 10; unknown variant 2nd chromosome PubMed: Matern et al. 2003 - - Unknown ? - - - - DNA, RNA RT-PCR, SEQ - - SBCADD - PubMed: Matern 2003 Patient 1 in Matern et al. (2003) ? ? - Asian, Hmong - - - - 1 Division of Human Genetics, Innsbruck
+/+ 10 c.1165A>G r.1129_1228del p.(Met389Val) Unknown - pathogenic g.124812613A>G g.123053097A>G M356V (in mature SBCAD protein) - ACADSB_000003 mutation leads to the complete skipping of exon 10; unknown variant 2nd chromosome PubMed: Matern et al. 2003 - - Unknown ? - - - - DNA, RNA RT-PCR, SEQ - - SBCADD - PubMed: Matern 2003 Patient 2 in Matern et al. (2003) ? ? - Asian, Hmong - - - - 1 Division of Human Genetics, Innsbruck
+/+ 10 c.1165A>G r.1129_1228del p.(Met389Val) Unknown - pathogenic g.124812613A>G g.123053097A>G M356V (in mature SBCAD protein) - ACADSB_000003 mutation leads to the complete skipping of exon 10; unknown variant 2nd chromosome PubMed: Matern et al. 2003 - - Unknown ? - - - - DNA, RNA RT-PCR, SEQ - - SBCADD - PubMed: Matern 2003 Patient 3 in Matern et al. (2003) ? ? - Asian, Hmong - - - - 1 Division of Human Genetics, Innsbruck
+/+ 10 c.1165A>G r.1129_1228del p.(Met389Val) Unknown - pathogenic g.124812613A>G g.123053097A>G M356V (in mature SBCAD protein) - ACADSB_000003 mutation leads to the complete skipping of exon 10 PubMed: Matern et al. 2003 - - Unknown ? - - - - DNA SEQ - - SBCADD - PubMed: Korman 2005 - ? ? - - - - - - 1 Division of Human Genetics, Innsbruck
+?/. - c.1165A>G r.(?) p.(Met389Val) Both (homozygous) - likely pathogenic g.124812613A>G g.123053097A>G - - ACADSB_000003 - PubMed: Wang 2019 - - Germline - 2/2 case chromosomes - - - DNA SEQ - - ? - PubMed: Wang 2019 screening 401,660 newborns for inborn errors of metabolism - - China - - - - - 2 Johan den Dunnen
?/. - c.1186A>G r.(?) p.(Lys396Glu) Paternal (confirmed) - VUS g.124812634A>G g.123053118A>G - - ACADSB_000018 - - - - Germline - - - - - DNA SEQ-NG-I - - SBCADD - - - - - - - - - - - 1 Belen Perez
+?/. 10 c.1186A>G r.(?) p.(Lys396Glu) Parent #1 - likely pathogenic g.124812634A>G g.123053118A>G - - ACADSB_000018 - PubMed: Navarrete 2019 - rs199963793 Germline - - - - - DNA SEQ, SEQ-NG - 119-gene panel metabolic syndrome Pat18 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
+/+ 10 c.1228G>A r.1129_1228del p.(Gly410Ser) Paternal (inferred) - pathogenic g.124812676G>A g.123053160G>A - - ACADSB_000006 this mutation leads to a deletion of 100 bp of cDNA postitions 1129_1228 PubMed: Andresen et al. 2000 - - Unknown ? - - - - DNA SEQ - - SBCADD - PubMed: Andresen 2000 - M ? Pakistan - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 10 c.1228G>A r.1129_1228del p.(Gly410Ser) Paternal (inferred) - pathogenic g.124812676G>A g.123053160G>A - - ACADSB_000006 this mutation leads to a deletion of 100 bp of cDNA postitions 1129_1228 PubMed: Andresen et al. 2000 - - Unknown ? - - - - DNA SEQ - - SBCADD - PubMed: Andresen 2000 mother of patient in Andresen et al. (2000) F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 10 c.1228G>A r.1129_1228del p.(Gly410Ser) Maternal (inferred) - pathogenic g.124812676G>A g.123053160G>A - - ACADSB_000006 this mutation leads to a deletion of 100 bp of cDNA postitions 1129_1228 PubMed: Andresen et al. 2000 - - Unknown ? - - - - DNA SEQ - - SBCADD - PubMed: Andresen 2000 - M ? Pakistan - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 10 c.1228G>A r.1129_1228del p.(Gly410Ser) Maternal (inferred) - pathogenic g.124812676G>A g.123053160G>A - - ACADSB_000006 this mutation leads to a deletion of 100 bp of cDNA postitions 1129_1228 PubMed: Andresen et al. 2000 - - Unknown ? - - - - DNA SEQ - - SBCADD - PubMed: Andresen 2000 mother of patient in Andresen et al. (2000) F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/. - c.1228G>A r.(?) p.(Gly410Ser) Parent #1 - pathogenic g.124812676G>A g.123053160G>A - - ACADSB_000006 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs387906409 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+?/. - c.1228G>A r.(?) p.(Gly410Ser) Unknown - likely pathogenic g.124812676G>A - ACADSB(NM_001609.4):c.1228G>A (p.G410S) - ACADSB_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1228+21del r.(=) p.(=) Unknown - benign g.124812697del g.123053181del ACADSB(NM_001609.3):c.1228+21delT - ACADSB_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4467A>T r.(=) p.(=) Unknown - benign g.124817748A>T - ACADSB(NM_001609.3):c.*4467A>T - ACADSB_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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