Full data view for gene HADHB

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

49 entries on 1 page. Showing entries 1 - 49.
Legend  

Effect     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

MSCV     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Date     

Template     

Technique     

Tissue     

Description     

Disease     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Population     

Consanguinity     

Age of death     

Cause of death     

Remarks     

Panel size     

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

Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium