View unique variants in gene HADHB

MSeqDR-LSDB: Mitochondrial Disease LSDB
Information The variants shown are described using the NM_000183.2 transcript reference sequence.

44 entries on 1 page. Showing entries 1 - 44.
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Effect     

Reported     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     

Chr     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

MSCV     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
./. 1 - - c.-235del p.(=) - - - - 2 Unknown - g.26467632del - - - HADHA_000029 MSCV_0018976 - - ; clinvar; - - - -
./. 1 - - c.-214C>T p.(=) - - - - 2 Unknown - g.26467653C>T - - - HADHA_000030 MSCV_0018977 - - ; clinvar; - - - -
./. 1 - - c.-202G>A p.(=) - - - - 2 Unknown - g.26467665G>A - - - HADHA_000031 MSCV_0018978 - - ; clinvar; - - - -
./. 1 - - c.-201G>A p.(=) - - - - 2 Unknown - g.26467666G>A - - - HADHB_000028 MSCV_0018979 - - ; clinvar; - - - -
./. 1 - - c.-185G>C p.(=) - - - - 2 Unknown - g.26467682G>C - - - HADHB_000029 MSCV_0018980 - - ; clinvar; - - - -
./. 1 - - c.-176G>T p.(=) - - - - 2 Unknown - g.26467691G>T - - - HADHB_000030 MSCV_0018981 - - ; clinvar; - - - -
./. 1 - - c.-173T>C p.(=) - - - - 2 Unknown - g.26467694T>C - - - HADHB_000031 MSCV_0018982 - - ; clinvar; - - - -
./. 1 - - c.-124C>G p.(=) - - - - 2 Unknown - g.26467743C>G - - - HADHB_000032 MSCV_0018983 - - ; clinvar; - - - -
./. 1 - - c.-9+11G>C p.(=) - - - - 2 Unknown - g.26467869G>C - - - HADHB_000033 MSCV_0018984 - - ; clinvar; - - - -
./. 1 - - c.3_4insACT p.(Thr2dup) - - - - 2 Unknown - g.26477125_26477126insACT - - - HADHB_000034 MSCV_0018985 - - ; clinvar; - - - -
./. 1 - - c.64+11T>C p.(=) - - - - 2 Unknown - g.26477197T>C - - - HADHB_000035 MSCV_0018986 - - ; clinvar; - - - -
./. 1 - - c.135G>A p.(=) - - - - 2 Unknown - g.26486273G>A - - - HADHB_000036 MSCV_0018987 - - ; clinvar; - - - -
+/+, ./. 2 - 4/14 c.182G>A p.(Arg61His) probably_damaging(0.988) missense_variant - -, deleterious(0) 2 Unknown subst g.26486320G>A - 5.640 - HADHB_000001 MSCV_0000797 rs121913132 - ; clinvar, , clinVar; Ensembl; 8651282 - - -
./. 1 - - c.209+1G>A p.? - - - - 2 Unknown - g.26486348G>A - - - HADHB_000037 MSCV_0018989 - - ; clinvar; - - - -
./. 1 - - c.210-5C>A p.? - - - - 2 Unknown - g.26492816C>A - - - HADHB_000007 MSCV_0018990 - - ; clinvar; - - - -
./. 1 - - c.246A>G p.(=) - - - - 2 Unknown - g.26492857A>G - - - HADHB_000008 MSCV_0018991 - - ; clinvar; - - - -
./. 1 - - c.272C>T p.(Thr91Ile) - - - - 2 Unknown - g.26496536C>T - - - HADHB_000009 MSCV_0018992 - - ; clinvar; - - - -
./. 1 - - c.356_357insT p.(Ala120Cysfs*8) - - - - 2 Unknown - g.26499942_26499943insT - - - HADHB_000010 MSCV_0018993 - - ; clinvar; - - - -
./. 1 - - c.560A>G p.(Asn187Ser) - - - - 2 Unknown - g.26501599A>G - - - HADHB_000011 MSCV_0018994 - - ; clinvar; - - - -
./. 1 - - c.712C>T p.(Arg238Trp) - - - - 2 Unknown - g.26502084C>T - - - HADHB_000012 MSCV_0018995 - - ; clinvar; - - - -
+/+, ./. 2 - 9/16 c.740G>A p.(Arg247His) benign(0.107) missense_variant - -, deleterious(0.05) 2 Unknown subst g.26502112G>A - 5.690 - HADHB_000002 MSCV_0000798 rs121913133 - ; clinvar, , clinVar; Ensembl; 8651282 - - -
+/+, ./. 2 - 9/16 c.788A>G p.(Asp263Gly) probably_damaging(0.984) missense_variant - -, deleterious(0) 2 Unknown subst g.26502160A>G - 5.620 - HADHB_000003 MSCV_0000799 rs121913131 - ; clinvar, , clinVar; Ensembl; 8651282;8163672 - - -
./. 1 - - c.812-5A>T p.? - - - - 2 Unknown - g.26502857A>T - - - HADHB_000013 MSCV_0018998 - - ; clinvar; - - - -
./. 1 - - c.825T>C p.(=) - - - - 2 Unknown - g.26502875T>C - - - HADHB_000014 MSCV_0018999 - - ; clinvar; - - - -
./. 1 - - c.830A>G p.(Lys277Arg) - - - - 2 Unknown - g.26502880A>G - - - HADHB_000015 MSCV_0019000 - - ; clinvar; - - - -
./. 1 - - c.891C>T p.(=) - - - - 2 Unknown - g.26502941C>T - - - HADHB_000016 MSCV_0019001 - - ; clinvar; - - - -
./. 1 - - c.919A>G p.(Asn307Asp) - - - - 2 Unknown - g.26502969A>G - - - HADHB_000017 MSCV_0019002 - - ; clinvar; - - - -
./. 1 - - c.966G>A p.(=) - - - - 2 Unknown - g.26505745G>A - - - HADHB_000018 MSCV_0019003 - - ; clinvar; - - - -
./. 1 - - c.1014-14A>G p.(=) - - - - 2 Unknown - g.26505858A>G - - - HADHB_000019 MSCV_0019004 - - ; clinvar; - - - -
./. 1 - - c.1149+4A>T p.? - - - - 2 Unknown - g.26507076A>T - - - HADHB_000020 MSCV_0019005 - - ; clinvar; - - - -
./. 1 - - c.1175C>T p.(Ala392Val) - - - - 2 Unknown - g.26507776C>T - - - HADHB_000021 MSCV_0019006 - - ; clinvar; - - - -
+/+, ./. 2 - 15/16 c.1331G>A p.(Arg444Lys) probably_damaging(0.999) missense_variant - -, tolerated(0.08) 2 Unknown subst g.26508381G>A - 5.670 - HADHB_000004 MSCV_0000800 rs121913134 - ; clinvar, , clinVar; Ensembl; 19699128;9259266 - - -
./. 1 - 15/16 c.1364T>A p.(Val455Glu) probably_damaging(0.932) missense_variant - deleterious(0) 2 Unknown subst g.26508414T>A - 5.670 - HADHB_000005 MSCV_0000801 NA - ; - - - -
+/+, ./. 2 - 15/16 c.1364T>G p.(Val455Gly) possibly_damaging(0.868) missense_variant - -, deleterious(0) 2 Unknown subst g.26508414T>G - 5.670 - HADHB_000006 MSCV_0000802 rs267606859 - ; clinvar, , clinVar; Ensembl; 19699128 - - -
./. 1 - - c.1371G>A p.(=) - - - - 2 Unknown - g.26508421G>A - - - HADHB_000022 MSCV_0019009 - - ; clinvar; - - - -
./. 1 - - c.*52A>G p.(=) - - - - 2 Unknown - g.26512873A>G - - - HADHB_000023 MSCV_0019010 - - ; clinvar; - - - -
./. 1 - - c.*136G>C p.(=) - - - - 2 Unknown - g.26512957G>C - - - HADHB_000024 MSCV_0019011 - - ; clinvar; - - - -
./. 1 - - c.*196A>G p.(=) - - - - 2 Unknown - g.26513017A>G - - - HADHB_000025 MSCV_0019012 - - ; clinvar; - - - -
./. 1 - - c.*241T>G p.(=) - - - - 2 Unknown - g.26513062T>G - - - HADHB_000026 MSCV_0019013 - - ; clinvar; - - - -
./. 1 - - c.*244T>G p.(=) - - - - 2 Unknown - g.26513065T>G - - - HADHB_000027 MSCV_0019014 - - ; clinvar; - - - -
./. 1 - - c.*268G>A p.(=) - - - - 2 Unknown - g.26513089G>A - - - HADHB_000038 MSCV_0019015 - - ; clinvar; - - - -
./. 1 - - c.*351C>G p.(=) - - - - 2 Unknown - g.26513172C>G - - - HADHB_000039 MSCV_0019016 - - ; clinvar; - - - -
./. 1 - - c.*380A>G p.(=) - - - - 2 Unknown - g.26513201A>G - - - HADHB_000040 MSCV_0019017 - - ; clinvar; - - - -
./. 1 - - c.*486G>A p.(=) - - - - 2 Unknown - g.26513307G>A - - - HADHB_000041 MSCV_0019018 - - ; clinvar; - - - -
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium