Full data view for gene MBOAT7

Information The variants shown are described using the NM_024298.3 transcript reference sequence.

38 entries on 1 page. Showing entries 1 - 38.
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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     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.-3949C>T r.(?) p.(=) Unknown - VUS g.54697134G>A g.54193279G>A TSEN34(NM_001282332.2):c.850G>A (p.V284I) - TSEN34_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3894G>A r.(?) p.(=) Unknown - benign g.54697079C>T g.54193224= TSEN34(NM_001282332.2):c.795C>T (p.P265=), TSEN34(NM_024075.5):c.795C>T (p.P265=) - TSEN34_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3894G>A r.(?) p.(=) Unknown - benign g.54697079C>T g.54193224= TSEN34(NM_001282332.2):c.795C>T (p.P265=), TSEN34(NM_024075.5):c.795C>T (p.P265=) - TSEN34_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2828C>A r.(?) p.(=) Unknown - likely benign g.54696013G>T g.54192162G>T TSEN34(NM_001282332.1):c.534G>T (p.L178F) - MBOAT7_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2069C>T r.(?) p.(=) Unknown - likely benign g.54695254G>A g.54191403G>A TSEN34(NM_001282332.2):c.39G>A (p.V13=) - TSEN34_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1045C>A r.(?) p.(=) Unknown - likely benign g.54694230G>T - TSEN34(NM_001282333.2):c.-5+8G>T - MBOAT7_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.77-8C>G r.(=) p.(=) Unknown - likely benign g.54692208G>C g.54188354G>C MBOAT7(NM_001146056.1):c.-16-8C>G (p.(=)) - MBOAT7_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.126_145del r.(?) p.(Leu43Hisfs*69) Both (homozygous) - pathogenic (recessive) g.54692133_54692152del g.54188279_54188298del - - MBOAT7_000015 - PubMed: Johansen 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? Fam1PatIII2 PubMed: Johansen 2016 3-generation family, 3 affected (3M), unaffected heterozygous carrier parents/relatives M yes Egypt - - - - - 3 Johan den Dunnen
+/. - c.126_145del r.(?) p.(Leu43Hisfs*69) Both (homozygous) - pathogenic (recessive) g.54692133_54692152del g.54188279_54188298del - - MBOAT7_000015 - PubMed: Johansen 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? Fam1PatIII3 PubMed: Johansen 2016 - M yes Egypt - - - - - 1 Johan den Dunnen
+/. - c.126_145del r.(?) p.(Leu43Hisfs*69) Both (homozygous) - pathogenic (recessive) g.54692133_54692152del g.54188279_54188298del - - MBOAT7_000015 - PubMed: Johansen 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? Fam1PatIII4 PubMed: Johansen 2016 - M yes Egypt - - - - - 1 Johan den Dunnen
+/. - c.251del r.[(251del),spl] p.[(Leu84Argfs*25),?] Both (homozygous) - pathogenic (recessive) g.54691125del g.54187243del 251delT - MBOAT7_000016 - PubMed: Santos-Cortez 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID FamMR77Pat4 PubMed: Santos-Cortez 2018 5-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives M yes Pakistan - - - - - 4 Johan den Dunnen
+/. - c.251del r.[(251del),spl] p.[(Leu84Argfs*25),?] Both (homozygous) - pathogenic (recessive) g.54691125del g.54187243del 251delT - MBOAT7_000016 - PubMed: Santos-Cortez 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID FamMR77Pat5 PubMed: Santos-Cortez 2018 - M yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.251del r.[(251del),spl] p.[(Leu84Argfs*25),?] Both (homozygous) - pathogenic (recessive) g.54691125del g.54187243del 251delT - MBOAT7_000016 - PubMed: Santos-Cortez 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID FamMR77Pat6 PubMed: Santos-Cortez 2018 - F yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.251del r.[(251del),spl] p.[(Leu84Argfs*25),?] Both (homozygous) - pathogenic (recessive) g.54691125del g.54187243del 251delT - MBOAT7_000016 - PubMed: Santos-Cortez 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID FamMR77Pat7 PubMed: Santos-Cortez 2018 - F yes Pakistan - - - - - 1 Johan den Dunnen
?/. - c.313C>A r.(?) p.(Gln105Lys) Unknown - VUS g.54691063G>T - MBOAT7(NM_024298.3):c.313C>A (p.(Gln105Lys)) - MBOAT7_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.334-1G>T r.spl? p.? Unknown - likely pathogenic g.54687564C>A - MBOAT7(NM_024298.4):c.334-1G>T - MBOAT7_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.458_459del r.(?) p.(Leu153GlnfsTer142) Unknown - VUS g.54687439_54687440del g.54183556_54183557del MBOAT7(NM_024298.4):c.458_459delTC (p.L153Qfs*142) - MBOAT7_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.458_459del r.495_854del p.Phe167_Pro286del Unknown - likely pathogenic g.54687439_54687440del g.54183556_54183557del 458_459delTC - MBOAT7_000001 effect on RNA exon skipping - - - Germline/De novo (untested) - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG blood mRNA splicing analysis on tissue ? - - - - - Netherlands - - - - - 1 Tjakko van Ham
?/. - c.596C>G r.(?) p.(Pro199Arg) Unknown - VUS g.54684748G>C g.54181031G>C - - MBOAT7_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.596C>T r.(?) p.(Pro199Leu) Unknown - likely benign g.54684748G>A g.54181031G>A MBOAT7(NM_001146056.1):c.377C>T (p.(Pro126Leu)) - MBOAT7_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.604G>C r.(?) p.(Gly202Arg) Both (homozygous) - likely pathogenic (recessive) g.54684740C>G g.54181023C>G - - MBOAT7_000021 - PubMed: Al-Kasbi 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID 61BS3700 PubMed: Al-Kasbi 2022 patient, other affecteds in family M - Oman - - - - - 1 Johan den Dunnen
+/. - c.758_778del r.(?) p.(Glu253_Ala259del) Both (homozygous) - pathogenic (recessive) g.54684576_54684596del g.54180859_54180879del - - MBOAT7_000014 - PubMed: Johansen 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? Fam2PatIII2 PubMed: Johansen 2016 3-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives M yes Pakistan - - - - - 2 Johan den Dunnen
+/. - c.758_778del r.(?) p.(Glu253_Ala259del) Both (homozygous) - pathogenic (recessive) g.54684576_54684596del g.54180859_54180879del - - MBOAT7_000014 - PubMed: Johansen 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? Fam2PatIII3 PubMed: Johansen 2016 - F yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.758_778del r.(?) p.(Glu253_Ala259del) Both (homozygous) - pathogenic (recessive) g.54684576_54684596del g.54180859_54180879del - - MBOAT7_000014 - PubMed: Johansen 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? Fam3PatIII3 PubMed: Johansen 2016 3-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives M yes Pakistan - - - - - 3 Johan den Dunnen
+/. - c.758_778del r.(?) p.(Glu253_Ala259del) Both (homozygous) - pathogenic (recessive) g.54684576_54684596del g.54180859_54180879del - - MBOAT7_000014 - PubMed: Johansen 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? Fam3PatIII4 PubMed: Johansen 2016 - F yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.758_778del r.(?) p.(Glu253_Ala259del) Both (homozygous) - pathogenic (recessive) g.54684576_54684596del g.54180859_54180879del - - MBOAT7_000014 - PubMed: Johansen 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? Fam3PatIII5 PubMed: Johansen 2016 - M yes Pakistan - - - - - 1 Johan den Dunnen
?/. - c.760T>C r.(?) p.(Cys254Arg) Unknown - VUS g.54684584A>G g.54180867A>G - - MBOAT7_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1031+2T>G r.spl? p.? Unknown - VUS g.54682480A>C g.54178763A>C MBOAT7(NM_001146082.2):c.1033T>G (p.*345Gext*8) - MBOAT7_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.1062C>A r.(?) p.(Tyr354*) Both (homozygous) - likely pathogenic (recessive) g.54678095G>T g.54174401G>T - - MBOAT7_000012 - - - - Germline yes - - - - DNA SEQ-NG-I Blood WES MRT G6233 - - M yes Iran - 18y - - - 2 Erfan Heidari
+?/. - c.1069G>A r.(?) p.(Gly357Ser) Both (homozygous) - likely pathogenic (recessive) g.54678088C>T g.54174394C>T - - MBOAT7_000020 novel candidate disease gene PubMed: Hu 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ID M9000101 PubMed: Hu 2019 family, 3 affected individuals, first cousin parents once removed - yes - Azeri - - - - 3 Johan den Dunnen
+?/. - c.1079del r.(?) p.(Pro360Argfs*5) Unknown - likely pathogenic g.54678080del - MBOAT7(NM_024298.4):c.1079delC (p.P360Rfs*5) - MBOAT7_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.1135del r.(?) p.(Leu379Trpfs*9) Both (homozygous) - likely pathogenic (recessive) g.54678022del g.54174328del - - MBOAT7_000013 - - - - Germline - - - - - DNA SEQ-NG-I Blood - MRT - - - M yes - - - - - - 1 Erfan Heidari
?/. - c.1250T>C r.(?) p.(Leu417Pro) Unknown - VUS g.54677907A>G g.54174213A>G - - MBOAT7_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1285A>G r.(?) p.(Ile429Val) Unknown - likely benign g.54677872T>C - MBOAT7(NM_024298.3):c.1285A>G (p.(Ile429Val)) - MBOAT7_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1361_1382del r.(?) p.(Arg454Profs*28) Unknown - pathogenic g.54677782_54677803del - MBOAT7(NM_024298.3):c.1361_1382delGGCGGAAGGCAGCATCCCAGCC (p.(Arg454fs)) - MBOAT7_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1364G>A r.(?) p.(Arg455Gln) Parent #1 - likely benign g.54677793C>T g.54174099C>T - - MBOAT7_000017 23 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs79199039 Germline - 23/2789 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 23 Mohammed Faruq
-?/. - c.*1943G>A r.(=) p.(=) Unknown - likely benign g.54675795C>T g.54172026C>T TMC4(NM_001145303.1):c.155G>A (p.(Arg52Gln)) - MBOAT7_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*5328G>A r.(=) p.(=) Unknown - benign g.54672410C>T g.54168684C>T TMC4(NM_001145303.2):c.460-4G>A - TMC4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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