FDX2 (ferredoxin 2) - Rat Genome Database

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Gene: FDX2 (ferredoxin 2) Homo sapiens
Analyze
Symbol: FDX2
Name: ferredoxin 2
RGD ID: 1604250
HGNC Page HGNC:30546
Description: Enables electron transfer activity. Involved in [2Fe-2S] cluster assembly. Acts upstream of or within ubiquinone biosynthetic process. Is active in mitochondrion. Implicated in mitochondrial myopathy.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: adrenodoxin-like protein, mitochondrial; FDX1L; ferredoxin 1 like; ferredoxin 1-like; ferredoxin-1-like protein; ferredoxin-2, mitochondrial; MEOAL; MGC19604; MGC74760
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Green Monkey
Naked Mole-Rat
Black Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: LOC100128958  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381910,310,045 - 10,316,015 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1910,309,916 - 10,316,015 (-)Ensemblhg38GRCh38
GRCh371910,420,721 - 10,426,691 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361910,281,891 - 10,287,691 (-)NCBIBuild 36Build 36hg18NCBI36
Celera1910,316,284 - 10,322,080 (-)NCBICelera
Cytogenetic Map19p13.2NCBI
HuRef1910,001,153 - 10,006,949 (-)NCBIHuRef
CHM1_11910,421,449 - 10,427,224 (-)NCBICHM1_1
T2T-CHM13v2.01910,436,158 - 10,442,125 (-)NCBIT2T-CHM13v2.0
JBrowse:




Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Iron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster delivery. Maio N and Rouault TA, Biochim Biophys Acta. 2015 Jun;1853(6):1493-512. doi: 10.1016/j.bbamcr.2014.09.009. Epub 2014 Sep 19.
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:2340092   PMID:12477932   PMID:14702039   PMID:16344560   PMID:20301403   PMID:20547883   PMID:20877624   PMID:21832049   PMID:21873635   PMID:22101253   PMID:23208207   PMID:24281368  
PMID:25416956   PMID:27519411   PMID:28001042   PMID:28514442   PMID:29097656   PMID:30010796   PMID:31395877   PMID:31536960   PMID:32296183   PMID:33961781   PMID:34373451   PMID:34800366  
PMID:36280795   PMID:37704626   PMID:38425362   PMID:38627381   PMID:39467201  


Genomics

Comparative Map Data
FDX2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381910,310,045 - 10,316,015 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1910,309,916 - 10,316,015 (-)Ensemblhg38GRCh38
GRCh371910,420,721 - 10,426,691 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361910,281,891 - 10,287,691 (-)NCBIBuild 36Build 36hg18NCBI36
Celera1910,316,284 - 10,322,080 (-)NCBICelera
Cytogenetic Map19p13.2NCBI
HuRef1910,001,153 - 10,006,949 (-)NCBIHuRef
CHM1_11910,421,449 - 10,427,224 (-)NCBICHM1_1
T2T-CHM13v2.01910,436,158 - 10,442,125 (-)NCBIT2T-CHM13v2.0
Fdx2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39920,978,808 - 20,984,827 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl920,978,816 - 20,984,910 (-)EnsemblGRCm39 EnsemblGRCm39
GRCm38921,067,512 - 21,073,531 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl921,067,520 - 21,073,614 (-)Ensemblmm10GRCm38
MGSCv37920,871,964 - 20,877,958 (-)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv36920,817,920 - 20,823,946 (-)NCBIMGSCv36mm8
Celera918,336,235 - 18,342,228 (-)NCBICelera
Cytogenetic Map9A3NCBI
cM Map97.7NCBI
Fdx2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8827,881,091 - 27,886,230 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl827,881,091 - 27,886,015 (-)EnsemblGRCr8
mRatBN7.2819,604,916 - 19,609,832 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl819,604,916 - 19,609,849 (-)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx823,624,325 - 23,629,241 (-)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0821,922,179 - 21,927,095 (-)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0819,834,580 - 19,839,500 (-)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0822,086,534 - 22,091,450 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl822,086,534 - 22,091,450 (-)Ensemblrn6Rnor6.0
Rnor_5.0822,143,206 - 22,148,122 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.4820,091,424 - 20,096,340 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera820,999,337 - 21,004,253 (-)NCBICelera
Cytogenetic Map8q13NCBI
Fdx2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554951,590,493 - 1,594,760 (-)Ensembl
ChiLan1.0NW_0049554951,590,493 - 1,594,760 (-)NCBIChiLan1.0ChiLan1.0
FDX2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22015,227,211 - 15,232,999 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11914,225,844 - 14,231,631 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0199,860,316 - 9,866,442 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11910,520,072 - 10,532,163 (-)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1910,526,287 - 10,532,152 (-)EnsemblpanPan2panpan1.1
FDX2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12050,798,250 - 50,802,477 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2050,668,057 - 50,672,225 (+)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.02051,319,937 - 51,324,100 (+)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2051,319,932 - 51,324,048 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12050,526,079 - 50,530,247 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02050,954,844 - 50,959,011 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02051,195,971 - 51,200,136 (+)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
LOC101962614
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118209,704,318 - 209,714,514 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936659640,587 - 644,804 (-)EnsemblSpeTri2.0 Ensembl
SpeTri2.0 EnsemblNW_004936659645,191 - 650,246 (-)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_004936659640,243 - 650,350 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FDX2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.169,359,446 - 9,364,702 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl69,359,719 - 9,364,689 (-)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366607410,673,535 - 10,679,013 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fdx2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248282,468,757 - 2,473,600 (-)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_0046248282,468,761 - 2,473,657 (-)NCBIHetGla 1.0HetGla 1.0hetGla2
Fdx2
(Rattus rattus - black rat)
Black Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rrattus_CSIRO_v1817,330,246 - 17,335,181 (-)NCBIRrattus_CSIRO_v1

Variants

.
Variants in FDX2
139 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001397406.1(FDX2):c.40G>C (p.Val14Leu) single nucleotide variant FDX2-related disorder [RCV003953032]|not provided [RCV000895840] Chr19:10315957 [GRCh38]
Chr19:10426633 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_001397406.1(FDX2):c.165GGA[1] (p.Glu56del) microsatellite not provided [RCV001928719] Chr19:10315735..10315737 [GRCh38]
Chr19:10426411..10426413 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001397406.1(FDX2):c.395+19T>A single nucleotide variant not provided [RCV002776401] Chr19:10310834 [GRCh38]
Chr19:10421510 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001031734.3(FDX1L):c.26C>A (p.Ala9Asp) single nucleotide variant Malignant melanoma [RCV000063419] Chr19:10315980 [GRCh38]
Chr19:10426656 [GRCh37]
Chr19:10287656 [NCBI36]
Chr19:19p13.2		 not provided
NM_001103167.1(ZGLP1):c.355C>T (p.Pro119Ser) single nucleotide variant Malignant melanoma [RCV000071915] Chr19:10308327 [GRCh38]
Chr19:10419003 [GRCh37]
Chr19:10280003 [NCBI36]
Chr19:19p13.2		 not provided
NM_001397406.1(FDX2):c.405C>T (p.Asp135=) single nucleotide variant not provided [RCV002574878] Chr19:10310633 [GRCh38]
Chr19:10421309 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.200+15C>G single nucleotide variant not provided [RCV002671956] Chr19:10315690 [GRCh38]
Chr19:10426366 [GRCh37]
Chr19:19p13.2		 likely benign
GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426) copy number gain See cases [RCV000446985] Chr19:9678768..14853426 [GRCh37]
Chr19:19p13.2-13.12		 pathogenic
NM_001397406.1(FDX2):c.83G>C (p.Gly28Ala) single nucleotide variant FDX2-related disorder [RCV003905653]|not provided [RCV001515027] Chr19:10315914 [GRCh38]
Chr19:10426590 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_001397406.1(FDX2):c.307+64_307+66dup duplication not provided [RCV001559638] Chr19:10315319..10315320 [GRCh38]
Chr19:10425995..10425996 [GRCh37]
Chr19:19p13.2		 likely benign
NC_000019.9:g.(?_10421162)_(10426681_?)del deletion not provided [RCV003122331] Chr19:10421162..10426681 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001397406.1(FDX2):c.307+69del deletion not provided [RCV001611909] Chr19:10315317 [GRCh38]
Chr19:10425993 [GRCh37]
Chr19:19p13.2		 benign
NM_001397406.1(FDX2):c.159T>C (p.Ala53=) single nucleotide variant not provided [RCV002666627] Chr19:10315746 [GRCh38]
Chr19:10426422 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.307+66dup duplication not provided [RCV001762825] Chr19:10315319..10315320 [GRCh38]
Chr19:10425995..10425996 [GRCh37]
Chr19:19p13.2		 benign
NM_001397406.1(FDX2):c.145+17G>C single nucleotide variant not provided [RCV003811904] Chr19:10315835 [GRCh38]
Chr19:10426511 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.201-14C>T single nucleotide variant not provided [RCV001512589]|not specified [RCV000434274] Chr19:10315506 [GRCh38]
Chr19:10426182 [GRCh37]
Chr19:19p13.2		 benign
NM_001397406.1(FDX2):c.16G>A (p.Ala6Thr) single nucleotide variant not provided [RCV002604638] Chr19:10315981 [GRCh38]
Chr19:10426657 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001397406.1(FDX2):c.420C>T (p.Ala140=) single nucleotide variant not provided [RCV002604906] Chr19:10310618 [GRCh38]
Chr19:10421294 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.22G>A (p.Gly8Arg) single nucleotide variant not provided [RCV001893261] Chr19:10315975 [GRCh38]
Chr19:10426651 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001397406.1(FDX2):c.135T>C (p.Phe45=) single nucleotide variant not provided [RCV003545947] Chr19:10315862 [GRCh38]
Chr19:10426538 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.106G>T (p.Gly36Trp) single nucleotide variant not provided [RCV002023813] Chr19:10315891 [GRCh38]
Chr19:10426567 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001397406.1(FDX2):c.196del (p.Asp66fs) deletion not provided [RCV004760073] Chr19:10315709 [GRCh38]
Chr19:10426385 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_001397406.1(FDX2):c.131A>G (p.Lys44Arg) single nucleotide variant not provided [RCV004762840] Chr19:10315866 [GRCh38]
Chr19:10426542 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001397406.1(FDX2):c.308-6C>T single nucleotide variant not provided [RCV002805465] Chr19:10310946 [GRCh38]
Chr19:10421622 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.519C>G (p.Phe173Leu) single nucleotide variant not provided [RCV001864418] Chr19:10310519 [GRCh38]
Chr19:10421195 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001397406.1(FDX2):c.178G>T (p.Gly60Cys) single nucleotide variant not provided [RCV002023337] Chr19:10315727 [GRCh38]
Chr19:10426403 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001397406.1(FDX2):c.57C>T (p.Ala19=) single nucleotide variant not provided [RCV002631397] Chr19:10315940 [GRCh38]
Chr19:10426616 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.146-10T>A single nucleotide variant not provided [RCV003047033] Chr19:10315769 [GRCh38]
Chr19:10426445 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001397406.1(FDX2):c.201-20G>T single nucleotide variant not provided [RCV002586233] Chr19:10315512 [GRCh38]
Chr19:10426188 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_001397406.1(FDX2):c.200+12G>A single nucleotide variant not provided [RCV002635820] Chr19:10315693 [GRCh38]
Chr19:10426369 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.20G>A (p.Arg7Gln) single nucleotide variant not provided [RCV002943606] Chr19:10315977 [GRCh38]
Chr19:10426653 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001397406.1(FDX2):c.146-16G>T single nucleotide variant not provided [RCV002116555] Chr19:10315775 [GRCh38]
Chr19:10426451 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.299A>G (p.Asp100Gly) single nucleotide variant FDX2-related disorder [RCV003946162]|not provided [RCV001445297] Chr19:10315394 [GRCh38]
Chr19:10426070 [GRCh37]
Chr19:19p13.2		 likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_001397406.1(FDX2):c.486G>A (p.Ala162=) single nucleotide variant not provided [RCV003067492] Chr19:10310552 [GRCh38]
Chr19:10421228 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.471G>A (p.Pro157=) single nucleotide variant not provided [RCV001583322] Chr19:10310567 [GRCh38]
Chr19:10421243 [GRCh37]
Chr19:19p13.2		 likely benign
GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1 copy number loss See cases [RCV000135403] Chr19:9735443..11228001 [GRCh38]
Chr19:9846119..11338677 [GRCh37]
Chr19:9707119..11199677 [NCBI36]
Chr19:19p13.2		 pathogenic
NM_001397406.1(FDX2):c.447G>C (p.Leu149=) single nucleotide variant not provided [RCV003841747] Chr19:10310591 [GRCh38]
Chr19:10421267 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.307+63_307+66dup duplication not provided [RCV001714302] Chr19:10315319..10315320 [GRCh38]
Chr19:10425995..10425996 [GRCh37]
Chr19:19p13.2		 benign
NM_001397406.1(FDX2):c.201-23_201-13delinsCTTCT indel not specified [RCV000485772] Chr19:10315505..10315515 [GRCh38]
Chr19:10426181..10426191 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.307+62_307+66dup duplication not provided [RCV001538772] Chr19:10315319..10315320 [GRCh38]
Chr19:10425995..10425996 [GRCh37]
Chr19:19p13.2		 benign
NM_001397406.1(FDX2):c.307+38A>C single nucleotide variant not provided [RCV001595739] Chr19:10315348 [GRCh38]
Chr19:10426024 [GRCh37]
Chr19:19p13.2		 benign
NM_001397406.1(FDX2):c.149C>T (p.Ser50Leu) single nucleotide variant not provided [RCV002904750] Chr19:10315756 [GRCh38]
Chr19:10426432 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001031734.3(FDX2):c.-44C>T single nucleotide variant not specified [RCV000441179] Chr19:10316049 [GRCh38]
Chr19:10426725 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.255A>G (p.Arg85=) single nucleotide variant not provided [RCV002662932] Chr19:10315438 [GRCh38]
Chr19:10426114 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_001397406.1(FDX2):c.307+76T>C single nucleotide variant not provided [RCV001667363] Chr19:10315310 [GRCh38]
Chr19:10425986 [GRCh37]
Chr19:19p13.2		 benign
NM_001397406.1(FDX2):c.460G>A (p.Val154Met) single nucleotide variant not provided [RCV002721952] Chr19:10310578 [GRCh38]
Chr19:10421254 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001397406.1(FDX2):c.307+67_307+68insA insertion not provided [RCV001635786] Chr19:10315318..10315319 [GRCh38]
Chr19:10425994..10425995 [GRCh37]
Chr19:19p13.2		 benign
NM_001397406.1(FDX2):c.307+68_307+69del deletion not provided [RCV001670415] Chr19:10315317..10315318 [GRCh38]
Chr19:10425993..10425994 [GRCh37]
Chr19:19p13.2		 benign
NM_001397406.1(FDX2):c.441G>A (p.Ser147=) single nucleotide variant not provided [RCV001521710]|not specified [RCV000437284] Chr19:10310597 [GRCh38]
Chr19:10421273 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_001397406.1(FDX2):c.396-67C>G single nucleotide variant not provided [RCV001534378] Chr19:10310709 [GRCh38]
Chr19:10421385 [GRCh37]
Chr19:19p13.2		 benign
NM_001397406.1(FDX2):c.492C>T (p.Phe164=) single nucleotide variant not provided [RCV002148693] Chr19:10310546 [GRCh38]
Chr19:10421222 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.539C>G (p.Pro180Arg) single nucleotide variant not provided [RCV002573736] Chr19:10310499 [GRCh38]
Chr19:10421175 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001397406.1(FDX2):c.308-11C>T single nucleotide variant not provided [RCV002635144] Chr19:10310951 [GRCh38]
Chr19:10421627 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.495C>T (p.Thr165=) single nucleotide variant not provided [RCV005070927] Chr19:10310543 [GRCh38]
Chr19:10421219 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.416T>C (p.Met139Thr) single nucleotide variant not provided [RCV003008481] Chr19:10310622 [GRCh38]
Chr19:10421298 [GRCh37]
Chr19:19p13.2		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
GRCh38/hg38 19p13.2(chr19:10156406-10889688)x3 copy number gain See cases [RCV000136738] Chr19:10156406..10889688 [GRCh38]
Chr19:10267082..11000364 [GRCh37]
Chr19:10128082..10861364 [NCBI36]
Chr19:19p13.2		 pathogenic
NM_001397406.1(FDX2):c.55G>A (p.Ala19Thr) single nucleotide variant not provided [RCV002700829] Chr19:10315942 [GRCh38]
Chr19:10426618 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001397406.1(FDX2):c.9C>T (p.Ala3=) single nucleotide variant FDX2-related disorder [RCV003897416] Chr19:10315988 [GRCh38]
Chr19:10426664 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.307+5G>A single nucleotide variant not provided [RCV003048614] Chr19:10315381 [GRCh38]
Chr19:10426057 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001397406.1(FDX2):c.422C>T (p.Pro141Leu) single nucleotide variant Inborn mitochondrial myopathy [RCV000761588] Chr19:10310616 [GRCh38]
Chr19:10421292 [GRCh37]
Chr19:19p13.2		 pathogenic|likely pathogenic
NM_001397406.1(FDX2):c.240C>T (p.Ile80=) single nucleotide variant not provided [RCV005087462] Chr19:10315453 [GRCh38]
Chr19:10426129 [GRCh37]
Chr19:19p13.2		 likely benign
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_001397406.1(FDX2):c.201-14C>G single nucleotide variant not provided [RCV002572630] Chr19:10315506 [GRCh38]
Chr19:10426182 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.201-13C>T single nucleotide variant not provided [RCV002151842] Chr19:10315505 [GRCh38]
Chr19:10426181 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.175G>A (p.Gly59Ser) single nucleotide variant not provided [RCV002297303] Chr19:10315730 [GRCh38]
Chr19:10426406 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001397406.1(FDX2):c.200+4A>G single nucleotide variant Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy [RCV003761180] Chr19:10315701 [GRCh38]
Chr19:10426377 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001397406.1(FDX2):c.145+4C>T single nucleotide variant not provided [RCV001523350]|not specified [RCV000423555] Chr19:10315848 [GRCh38]
Chr19:10426524 [GRCh37]
Chr19:19p13.2		 benign
NM_001397406.1(FDX2):c.145+19G>A single nucleotide variant not provided [RCV002107911] Chr19:10315833 [GRCh38]
Chr19:10426509 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.209T>C (p.Val70Ala) single nucleotide variant not provided [RCV003838773] Chr19:10315484 [GRCh38]
Chr19:10426160 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001397406.1(FDX2):c.396-16C>T single nucleotide variant not provided [RCV003844257] Chr19:10310658 [GRCh38]
Chr19:10421334 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.114G>T (p.Ala38=) single nucleotide variant not provided [RCV003542048] Chr19:10315883 [GRCh38]
Chr19:10426559 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.3G>T (p.Met1Ile) single nucleotide variant Inborn genetic diseases [RCV001265865] Chr19:10315994 [GRCh38]
Chr19:10426670 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_001397406.1(FDX2):c.443G>A (p.Arg148Gln) single nucleotide variant not provided [RCV002800676] Chr19:10310595 [GRCh38]
Chr19:10421271 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001397406.1(FDX2):c.386C>T (p.Pro129Leu) single nucleotide variant not provided [RCV002587920] Chr19:10310862 [GRCh38]
Chr19:10421538 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001397406.1(FDX2):c.456G>T (p.Gln152His) single nucleotide variant not provided [RCV002037407] Chr19:10310582 [GRCh38]
Chr19:10421258 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001397406.1(FDX2):c.308-221G>C single nucleotide variant not provided [RCV001577236] Chr19:10311161 [GRCh38]
Chr19:10421837 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.521A>T (p.Tyr174Phe) single nucleotide variant not provided [RCV003014038] Chr19:10310517 [GRCh38]
Chr19:10421193 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001397406.1(FDX2):c.114G>A (p.Ala38=) single nucleotide variant not provided [RCV003668664] Chr19:10315883 [GRCh38]
Chr19:10426559 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.1A>T (p.Met1Leu) single nucleotide variant Inborn mitochondrial myopathy [RCV000853480]|Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy [RCV003883133]|Mitochondrial myopathy, episodic, without optic atrophy and reversible leukoencephalopathy [RCV001777150]|not provided [RCV001857471] Chr19:10315996 [GRCh38]
Chr19:10426672 [GRCh37]
Chr19:19p13.2		 pathogenic|uncertain significance
NM_001397406.1(FDX2):c.141G>A (p.Ala47=) single nucleotide variant not provided [RCV002575157] Chr19:10315856 [GRCh38]
Chr19:10426532 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.256G>A (p.Val86Ile) single nucleotide variant not provided [RCV002631015] Chr19:10315437 [GRCh38]
Chr19:10426113 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001397406.1(FDX2):c.201-17C>A single nucleotide variant not provided [RCV000827405] Chr19:10315509 [GRCh38]
Chr19:10426185 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.308-269C>G single nucleotide variant not provided [RCV001583240] Chr19:10311209 [GRCh38]
Chr19:10421885 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.146-16G>C single nucleotide variant not provided [RCV003838902] Chr19:10315775 [GRCh38]
Chr19:10426451 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.201-8G>A single nucleotide variant not provided [RCV001581533] Chr19:10315500 [GRCh38]
Chr19:10426176 [GRCh37]
Chr19:19p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001397406.1(FDX2):c.*105G>A single nucleotide variant not provided [RCV005425489] Chr19:10310381 [GRCh38]
Chr19:10421057 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.13A>G (p.Met5Val) single nucleotide variant not provided [RCV003088781] Chr19:10315984 [GRCh38]
Chr19:10426660 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001397406.1(FDX2):c.189G>T (p.Arg63=) single nucleotide variant not provided [RCV003856955] Chr19:10315716 [GRCh38]
Chr19:10426392 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.330C>G (p.Ala110=) single nucleotide variant not provided [RCV003718959] Chr19:10310918 [GRCh38]
Chr19:10421594 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.402C>T (p.Asp134=) single nucleotide variant not provided [RCV003110318] Chr19:10310636 [GRCh38]
Chr19:10421312 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.307+67_307+68insAA insertion not provided [RCV001581426] Chr19:10315318..10315319 [GRCh38]
Chr19:10425994..10425995 [GRCh37]
Chr19:19p13.2		 likely benign
NC_000019.9:g.(?_10244343)_(11231218_?)del deletion Familial hypercholesterolemia [RCV004581010] Chr19:10244343..11231218 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_001397406.1(FDX2):c.76A>G (p.Arg26Gly) single nucleotide variant not provided [RCV001523351]|not specified [RCV000441713] Chr19:10315921 [GRCh38]
Chr19:10315921..10315922 [GRCh38]
Chr19:10426597 [GRCh37]
Chr19:10426597..10426598 [GRCh37]
Chr19:19p13.2		 benign
NM_001397406.1(FDX2):c.64A>G (p.Thr22Ala) single nucleotide variant not provided [RCV005254556] Chr19:10315933 [GRCh38]
Chr19:10426609 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001397406.1(FDX2):c.145+6_145+14del deletion not provided [RCV001994057] Chr19:10315838..10315846 [GRCh38]
Chr19:10426514..10426522 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001397406.1(FDX2):c.12C>T (p.Ser4=) single nucleotide variant not provided [RCV002604946] Chr19:10315985 [GRCh38]
Chr19:10426661 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.442C>T (p.Arg148Trp) single nucleotide variant not provided [RCV002592814] Chr19:10310596 [GRCh38]
Chr19:10421272 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001397406.1(FDX2):c.387C>T (p.Pro129=) single nucleotide variant not provided [RCV003563486] Chr19:10310861 [GRCh38]
Chr19:10421537 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.150G>T (p.Ser50=) single nucleotide variant not provided [RCV003875959] Chr19:10315755 [GRCh38]
Chr19:10426431 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.146-2A>G single nucleotide variant not provided [RCV002002338] Chr19:10315761 [GRCh38]
Chr19:10426437 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001397406.1(FDX2):c.396-15G>A single nucleotide variant not provided [RCV002601255] Chr19:10310657 [GRCh38]
Chr19:10421333 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_001397406.1(FDX2):c.403G>A (p.Asp135Asn) single nucleotide variant not provided [RCV002617837] Chr19:10310635 [GRCh38]
Chr19:10421311 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001397406.1(FDX2):c.72G>A (p.Trp24Ter) single nucleotide variant not provided [RCV003048162] Chr19:10315925 [GRCh38]
Chr19:10426601 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001397406.1(FDX2):c.109dup (p.Val37fs) duplication not provided [RCV002776408] Chr19:10315887..10315888 [GRCh38]
Chr19:10426563..10426564 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001397406.1(FDX2):c.146-13C>T single nucleotide variant not provided [RCV002574833] Chr19:10315772 [GRCh38]
Chr19:10426448 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.114G>C (p.Ala38=) single nucleotide variant not provided [RCV002623581] Chr19:10315883 [GRCh38]
Chr19:10426559 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.*180C>G single nucleotide variant not provided [RCV001715665] Chr19:10310306 [GRCh38]
Chr19:10420982 [GRCh37]
Chr19:19p13.2		 benign
NM_001397406.1(FDX2):c.47T>C (p.Leu16Pro) single nucleotide variant not provided [RCV002586573] Chr19:10315950 [GRCh38]
Chr19:10426626 [GRCh37]
Chr19:19p13.2		 uncertain significance
GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3 copy number gain See cases [RCV000052909] Chr19:10315258..14048994 [GRCh38]
Chr19:10425934..14159806 [GRCh37]
Chr19:10286934..14020806 [NCBI36]
Chr19:19p13.2-13.12		 pathogenic
NM_001397406.1(FDX2):c.465G>C (p.Leu155=) single nucleotide variant not provided [RCV003059493] Chr19:10310573 [GRCh38]
Chr19:10421249 [GRCh37]
Chr19:19p13.2		 likely benign
GRCh37/hg19 19p13.2(chr19:10286133-11040457)x1 copy number loss See cases [RCV000446752] Chr19:10286133..11040457 [GRCh37]
Chr19:19p13.2		 pathogenic
NC_000019.9:g.(?_10244343)_(10610709_?)del deletion Immunodeficiency 35 [RCV004581090] Chr19:10244343..10610709 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_001397406.1(FDX2):c.159T>G (p.Ala53=) single nucleotide variant Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy [RCV001702465]|not provided [RCV001523339]|not specified [RCV000423979] Chr19:10315746 [GRCh38]
Chr19:10426422 [GRCh37]
Chr19:19p13.2		 benign
NM_001397406.1(FDX2):c.-4T>C single nucleotide variant not provided [RCV003708367] Chr19:10316000 [GRCh38]
Chr19:10426676 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.142A>G (p.Thr48Ala) single nucleotide variant not provided [RCV002010760] Chr19:10315855 [GRCh38]
Chr19:10426531 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001397406.1(FDX2):c.145+12G>C single nucleotide variant not provided [RCV002062444]|not specified [RCV000426742] Chr19:10315840 [GRCh38]
Chr19:10426516 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.307+67C>A single nucleotide variant not provided [RCV001670149] Chr19:10315319 [GRCh38]
Chr19:10425995 [GRCh37]
Chr19:19p13.2		 benign
NM_001397406.1(FDX2):c.6C>A (p.Ala2=) single nucleotide variant FDX2-related disorder [RCV003972624]|not provided [RCV000906442] Chr19:10315991 [GRCh38]
Chr19:10426667 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NC_000019.10:g.10316016A>G single nucleotide variant not specified [RCV000605135] Chr19:10316016 [GRCh38]
Chr19:10426692 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.153C>T (p.Arg51=) single nucleotide variant not provided [RCV003043712] Chr19:10315752 [GRCh38]
Chr19:10426428 [GRCh37]
Chr19:19p13.2		 likely benign
NC_000019.10:g.10316099T>C single nucleotide variant not provided [RCV001586158] Chr19:10316099 [GRCh38]
Chr19:10426775 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.307+13C>G single nucleotide variant not provided [RCV002639940] Chr19:10315373 [GRCh38]
Chr19:10426049 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.149C>G (p.Ser50Trp) single nucleotide variant not provided [RCV005079679] Chr19:10315756 [GRCh38]
Chr19:10426432 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001397406.1(FDX2):c.111G>A (p.Val37=) single nucleotide variant not provided [RCV003713462] Chr19:10315886 [GRCh38]
Chr19:10426562 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.45A>G (p.Leu15=) single nucleotide variant Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy [RCV001702444]|not provided [RCV001523340]|not specified [RCV000440346] Chr19:10315952 [GRCh38]
Chr19:10426628 [GRCh37]
Chr19:19p13.2		 benign
NM_001397406.1(FDX2):c.265A>G (p.Asn89Asp) single nucleotide variant not provided [RCV001958102] Chr19:10315428 [GRCh38]
Chr19:10426104 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001397406.1(FDX2):c.21G>C (p.Arg7=) single nucleotide variant not provided [RCV002162302] Chr19:10315976 [GRCh38]
Chr19:10426652 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.120G>C (p.Gly40=) single nucleotide variant not provided [RCV002578121] Chr19:10315877 [GRCh38]
Chr19:10426553 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.231C>T (p.Gly77=) single nucleotide variant not provided [RCV002622615] Chr19:10315462 [GRCh38]
Chr19:10426138 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.308-164T>C single nucleotide variant not provided [RCV001551148] Chr19:10311104 [GRCh38]
Chr19:10421780 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.175G>T (p.Gly59Cys) single nucleotide variant not provided [RCV003046182] Chr19:10315730 [GRCh38]
Chr19:10426406 [GRCh37]
Chr19:19p13.2		 uncertain significance
GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3 copy number gain See cases [RCV000052908] Chr19:8831147..13331227 [GRCh38]
Chr19:8941823..13442041 [GRCh37]
Chr19:8802823..13303041 [NCBI36]
Chr19:19p13.2-13.13		 likely pathogenic
NM_001397406.1(FDX2):c.159T>A (p.Ala53=) single nucleotide variant not provided [RCV003684814] Chr19:10315746 [GRCh38]
Chr19:10426422 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.219A>G (p.Val73=) single nucleotide variant not provided [RCV002643210] Chr19:10315474 [GRCh38]
Chr19:10426150 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.201-23_201-18del deletion not provided [RCV002155772] Chr19:10315510..10315515 [GRCh38]
Chr19:10426186..10426191 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.146-20C>T single nucleotide variant not provided [RCV003696521] Chr19:10315779 [GRCh38]
Chr19:10426455 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.117G>A (p.Leu39=) single nucleotide variant not provided [RCV003110270] Chr19:10315880 [GRCh38]
Chr19:10426556 [GRCh37]
Chr19:19p13.2		 likely benign
NC_000019.10:g.10316041G>A single nucleotide variant not provided [RCV004703976]|not specified [RCV000443619] Chr19:10316041 [GRCh38]
Chr19:10426717 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.105G>C (p.Glu35Asp) single nucleotide variant not provided [RCV002001920] Chr19:10315892 [GRCh38]
Chr19:10426568 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001397406.1(FDX2):c.462G>A (p.Val154=) single nucleotide variant not provided [RCV002690434] Chr19:10310576 [GRCh38]
Chr19:10421252 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.271C>T (p.Leu91Phe) single nucleotide variant not provided [RCV003480297] Chr19:10315422 [GRCh38]
Chr19:10426098 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001397406.1(FDX2):c.496C>T (p.Leu166=) single nucleotide variant not provided [RCV002885807] Chr19:10310542 [GRCh38]
Chr19:10421218 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.315T>C (p.Cys105=) single nucleotide variant not provided [RCV002095070] Chr19:10310933 [GRCh38]
Chr19:10421609 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.318A>G (p.Glu106=) single nucleotide variant not provided [RCV003862963] Chr19:10310930 [GRCh38]
Chr19:10421606 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.307+13C>T single nucleotide variant not provided [RCV003863853] Chr19:10315373 [GRCh38]
Chr19:10426049 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.216C>T (p.Phe72=) single nucleotide variant not provided [RCV003731312] Chr19:10315477 [GRCh38]
Chr19:10426153 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.523G>A (p.Val175Met) single nucleotide variant not provided [RCV002615862] Chr19:10310515 [GRCh38]
Chr19:10421191 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001397406.1(FDX2):c.201-18A>G single nucleotide variant not provided [RCV002716931] Chr19:10315510 [GRCh38]
Chr19:10426186 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001397406.1(FDX2):c.145+16G>A single nucleotide variant not provided [RCV001522375]|not specified [RCV000422660] Chr19:10315836 [GRCh38]
Chr19:10426512 [GRCh37]
Chr19:19p13.2		 benign
NM_001397406.1(FDX2):c.498G>T (p.Leu166=) single nucleotide variant not provided [RCV000949048]|not specified [RCV000439004] Chr19:10310540 [GRCh38]
Chr19:10421216 [GRCh37]
Chr19:19p13.2		 benign
NC_000019.10:g.10316030CGC[3] microsatellite not provided [RCV001719128] Chr19:10316029..10316030 [GRCh38]
Chr19:10426705..10426706 [GRCh37]
Chr19:19p13.2		 benign
NM_001397406.1(FDX2):c.-6C>T single nucleotide variant not provided [RCV002033902] Chr19:10316002 [GRCh38]
Chr19:10426678 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001397406.1(FDX2):c.470C>T (p.Pro157Leu) single nucleotide variant not provided [RCV002050966] Chr19:10310568 [GRCh38]
Chr19:10421244 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001397406.1(FDX2):c.35C>T (p.Ala12Val) single nucleotide variant not provided [RCV002610465] Chr19:10315962 [GRCh38]
Chr19:10426638 [GRCh37]
Chr19:19p13.2		 uncertain significance
GRCh37/hg19 19p13.2(chr19:9941033-11739567)x3 copy number gain not provided [RCV001834267] Chr19:9941033..11739567 [GRCh37]
Chr19:19p13.2		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:2065
Count of miRNA genes:590
Interacting mature miRNAs:656
Transcripts:ENST00000343376, ENST00000393708, ENST00000453681, ENST00000460631, ENST00000486454, ENST00000492239, ENST00000494368
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
628779387GWAS2687616_Hlow density lipoprotein cholesterol measurement QTL GWAS2687616 (human)5e-11blood LDL cholesterol amount (VT:0000181)blood low density lipoprotein cholesterol level (CMO:0000053)191031592110315922Human
1643451SLIPL6_HSerum lipid level QTL 6 (human)2.190.0008Lipid level19116075902Human
407158599GWAS807575_Hlow density lipoprotein cholesterol measurement QTL GWAS807575 (human)5e-11low density lipoprotein cholesterol measurement191031592110315922Human
1581534BP76_HBlood pressure QTL 76 (human)20.001Blood pressurepulse pressure19116075902Human
628753372GWAS2661601_Hpsoriasis QTL GWAS2661601 (human)1e-16psoriasis191031030610310307Human
1581535BP65_HBlood pressure QTL 65 (human)3.10.001Blood pressurepulse pressure19116075902Human
598112449GWAS1821332_Hpsoriasis QTL GWAS1821332 (human)1e-16psoriasis191031030610310307Human
407151715GWAS800691_Hapolipoprotein B measurement QTL GWAS800691 (human)2e-09apolipoprotein B measurement191031592110315922Human
597253457GWAS1349531_Hapolipoprotein B measurement QTL GWAS1349531 (human)2e-09apolipoprotein B measurement191031592110315922Human
407255498GWAS904474_HICAM-1 measurement QTL GWAS904474 (human)6e-38ICAM-1 measurement191031229610312297Human
1298499UAE1_HUrinary albumin excretion QTL 1 (human)2.730.0009Urinary albumin excretionurine albumin:creatinine ratio (ACR)19116075902Human
628511077GWAS2419306_Hsystemic lupus erythematosus QTL GWAS2419306 (human)3e-09systemic lupus erythematosus191031433910314340Human
407069367GWAS718343_Hsystemic lupus erythematosus QTL GWAS718343 (human)3e-09systemic lupus erythematosus191031433910314340Human
597189324GWAS1285398_Hsystemic lupus erythematosus QTL GWAS1285398 (human)3e-09systemic lupus erythematosus191031433910314340Human
628781933GWAS2690162_Hapolipoprotein B measurement QTL GWAS2690162 (human)2e-09apolipoprotein B measurementblood apoliprotein B level (CMO:0000522)191031592110315922Human
597245857GWAS1341931_Hlow density lipoprotein cholesterol measurement QTL GWAS1341931 (human)5e-11low density lipoprotein cholesterol measurement191031592110315922Human
2314591INSUL4_HInsulin level QTL 4 (human)3.80.000038Insulin levelfasting19116075902Human
628840647GWAS2748876_HICAM-1 measurement QTL GWAS2748876 (human)6e-38ICAM-1 measurement191031229610312297Human
1298476BP3_HBlood pressure QTL 3 (human)2.4Blood pressuresystolic19116075902Human
597274118GWAS1370192_HICAM-1 measurement QTL GWAS1370192 (human)6e-38ICAM-1 measurement191031229610312297Human

Markers in Region
WI-14289  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371910,426,913 - 10,427,017UniSTSGRCh37
Build 361910,287,913 - 10,288,017RGDNCBI36
Celera1910,322,302 - 10,322,406RGD
Cytogenetic Map19p13.2UniSTS
HuRef1910,007,171 - 10,007,275UniSTS
GeneMap99-GB4 RH Map1965.63UniSTS
Whitehead-RH Map1950.0UniSTS
RH48407  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371910,421,028 - 10,421,168UniSTSGRCh37
Build 361910,282,028 - 10,282,168RGDNCBI36
Celera1910,316,421 - 10,316,561RGD
Cytogenetic Map19p13.2UniSTS
HuRef1910,001,290 - 10,001,430UniSTS
GeneMap99-GB4 RH Map1967.91UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2438 2788 2245 4971 1721 2346 6 619 1797 460 2269 7129 6306 53 3732 1 847 1744 1617 174 1

Sequence


Ensembl Acc Id: ENST00000343376
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,310,496 - 10,316,013 (-)Ensembl
Ensembl Acc Id: ENST00000393708   ⟹   ENSP00000377311
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,310,045 - 10,316,015 (-)Ensembl
Ensembl Acc Id: ENST00000453681
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,310,509 - 10,316,010 (-)Ensembl
Ensembl Acc Id: ENST00000460631
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,310,473 - 10,315,996 (-)Ensembl
Ensembl Acc Id: ENST00000486454
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,315,331 - 10,316,006 (-)Ensembl
Ensembl Acc Id: ENST00000492239   ⟹   ENSP00000488228
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,310,217 - 10,315,795 (-)Ensembl
Ensembl Acc Id: ENST00000494368   ⟹   ENSP00000467188
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,310,355 - 10,316,015 (-)Ensembl
Ensembl Acc Id: ENST00000706663   ⟹   ENSP00000516489
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,309,916 - 10,316,015 (-)Ensembl
RefSeq Acc Id: NM_001397406   ⟹   NP_001384335
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,310,045 - 10,316,015 (-)NCBI
T2T-CHM13v2.01910,436,158 - 10,442,125 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001026904 (Get FASTA)   NCBI Sequence Viewer  
  NP_001384335 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH63460 (Get FASTA)   NCBI Sequence Viewer  
  BAH13303 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000377311
  ENSP00000377311.5
GenBank Protein Q6P4F2 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Acc Id: ENSP00000488228   ⟸   ENST00000492239
Ensembl Acc Id: ENSP00000467188   ⟸   ENST00000494368
Ensembl Acc Id: ENSP00000377311   ⟸   ENST00000393708
RefSeq Acc Id: NP_001384335   ⟸   NM_001397406
- UniProtKB: Q8N8B8 (UniProtKB/Swiss-Prot),   Q6P4F2 (UniProtKB/Swiss-Prot),   B7Z6L7 (UniProtKB/Swiss-Prot)
Ensembl Acc Id: ENSP00000516489   ⟸   ENST00000706663
Protein Domains
2Fe-2S ferredoxin-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6P4F2-F1-model_v2 AlphaFold Q6P4F2 1-186 view protein structure

Promoters
RGD ID:6795565
Promoter ID:HG_KWN:28843
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:ENST00000403352,   ENST00000403903
Position:
Human AssemblyChrPosition (strand)Source
Build 361910,280,206 - 10,282,057 (-)MPROMDB
RGD ID:6795560
Promoter ID:HG_KWN:28844
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:OTTHUMT00000325277
Position:
Human AssemblyChrPosition (strand)Source
Build 361910,282,456 - 10,282,956 (-)MPROMDB
RGD ID:6795564
Promoter ID:HG_KWN:28845
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000343376,   OTTHUMT00000280567,   OTTHUMT00000325270,   OTTHUMT00000325271,   OTTHUMT00000325272,   OTTHUMT00000325273,   OTTHUMT00000325274,   OTTHUMT00000325275,   OTTHUMT00000325276,   UC002MNX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361910,287,404 - 10,287,904 (-)MPROMDB
RGD ID:7238483
Promoter ID:EPDNEW_H24986
Type:initiation region
Name:FDX1L_1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,316,001 - 10,316,061EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30546 AgrOrtholog
COSMIC FDX2 COSMIC
Ensembl Genes ENSG00000267673 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000393708 ENTREZGENE
  ENST00000393708.3 UniProtKB/Swiss-Prot
Gene3D-CATH 3.10.20.30 UniProtKB/Swiss-Prot
GTEx ENSG00000267673 GTEx
HGNC ID HGNC:30546 ENTREZGENE
Human Proteome Map FDX2 Human Proteome Map
InterPro 2Fe-2S_ferredoxin-like_sf UniProtKB/Swiss-Prot
  2Fe-2S_ferredoxin-type UniProtKB/Swiss-Prot
  Adrenodoxin UniProtKB/Swiss-Prot
  Adrenodoxin_Fe-S_BS UniProtKB/Swiss-Prot
  Beta-grasp_dom_sf UniProtKB/Swiss-Prot
NCBI Gene FDX2 ENTREZGENE
OMIM 614585 OMIM
PANTHER FERREDOXIN-2, MITOCHONDRIAL UniProtKB/Swiss-Prot
  PTHR23426 UniProtKB/Swiss-Prot
Pfam Fer2 UniProtKB/Swiss-Prot
PharmGKB PA162388212 PharmGKB
PRINTS ADRENODOXIN UniProtKB/Swiss-Prot
PROSITE 2FE2S_FER_2 UniProtKB/Swiss-Prot
  ADX UniProtKB/Swiss-Prot
Superfamily-SCOP SSF54292 UniProtKB/Swiss-Prot
UniProt A0A0A0MTS8_HUMAN UniProtKB/TrEMBL
  A0A9L9PXQ6_HUMAN UniProtKB/TrEMBL
  B7Z6L7 ENTREZGENE
  FDX2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q8N8B8 ENTREZGENE
UniProt Secondary B7Z6L7 UniProtKB/Swiss-Prot
  Q8N8B8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-04-10 FDX2  ferredoxin 2  FDX1L  ferredoxin 1 like  Symbol and/or name change 5135510 APPROVED
2016-05-17 FDX1L  ferredoxin 1 like    ferredoxin 1-like  Symbol and/or name change 5135510 APPROVED