TMEM126A (transmembrane protein 126A) - Rat Genome Database

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Gene: TMEM126A (transmembrane protein 126A) Homo sapiens
Analyze
Symbol: TMEM126A
Name: transmembrane protein 126A
RGD ID: 1604272
HGNC Page HGNC:25382
Description: Involved in mitochondrial protein quality control; mitochondrion organization; and optic nerve development. Located in mitochondrion. Is active in mitochondrial inner membrane. Implicated in optic atrophy 7.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DKFZp586C1924; OPA7
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: AC112673.1   LOC100130437   LOC100132789  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381185,647,967 - 85,656,542 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1185,647,967 - 85,656,547 (+)EnsemblGRCh38hg38GRCh38
GRCh371185,359,011 - 85,367,586 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361185,036,693 - 85,045,235 (+)NCBINCBI36Build 36hg18NCBI36
Celera1182,668,277 - 82,676,912 (+)NCBICelera
Cytogenetic Map11q14.1NCBI
HuRef1181,656,256 - 81,664,891 (+)NCBIHuRef
CHM1_11185,243,754 - 85,252,388 (+)NCBICHM1_1
T2T-CHM13v2.01185,584,644 - 85,593,220 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
mitochondrial inner membrane  (IDA,IEA,TAS)
mitochondrion  (HTP,IBA,IDA,IEA)
plasma membrane  (IEA)

References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
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
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:11076863   PMID:11230166   PMID:11256614   PMID:12477932   PMID:15489334   PMID:15489336   PMID:16381901   PMID:19327736   PMID:19570815   PMID:20405026   PMID:20877624   PMID:21873635  
PMID:22815638   PMID:22939629   PMID:23500070   PMID:26496610   PMID:27432908   PMID:27499296   PMID:28978906   PMID:29509190   PMID:30393159   PMID:30961538   PMID:31091453   PMID:31560077  
PMID:31586073   PMID:31617661   PMID:31871319   PMID:31980649   PMID:32409323   PMID:32457219   PMID:32877691   PMID:32937373   PMID:33879611   PMID:33882309   PMID:33957083   PMID:33961781  
PMID:34079125   PMID:34349018   PMID:34800366   PMID:35013556   PMID:35439318   PMID:36114006   PMID:36538041   PMID:37314216   PMID:37317656   PMID:37827155   PMID:37931956   PMID:38199007  


Genomics

Comparative Map Data
TMEM126A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381185,647,967 - 85,656,542 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1185,647,967 - 85,656,547 (+)EnsemblGRCh38hg38GRCh38
GRCh371185,359,011 - 85,367,586 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361185,036,693 - 85,045,235 (+)NCBINCBI36Build 36hg18NCBI36
Celera1182,668,277 - 82,676,912 (+)NCBICelera
Cytogenetic Map11q14.1NCBI
HuRef1181,656,256 - 81,664,891 (+)NCBIHuRef
CHM1_11185,243,754 - 85,252,388 (+)NCBICHM1_1
T2T-CHM13v2.01185,584,644 - 85,593,220 (+)NCBIT2T-CHM13v2.0
Tmem126a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39790,099,908 - 90,106,411 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl790,099,908 - 90,106,437 (-)EnsemblGRCm39 Ensembl
GRCm38790,450,700 - 90,457,203 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl790,450,700 - 90,457,229 (-)EnsemblGRCm38mm10GRCm38
MGSCv37797,599,222 - 97,605,718 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36790,325,904 - 90,332,400 (-)NCBIMGSCv36mm8
Celera787,778,196 - 87,784,676 (-)NCBICelera
Cytogenetic Map7E1NCBI
cM Map750.59NCBI
Tmem126a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81153,837,015 - 153,843,192 (-)NCBIGRCr8
mRatBN7.21144,424,481 - 144,430,730 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1144,422,703 - 144,430,628 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1152,347,274 - 152,353,446 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01159,528,451 - 159,534,610 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01152,402,370 - 152,408,529 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01156,283,105 - 156,291,057 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1156,283,128 - 156,291,052 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01162,529,113 - 162,537,179 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41147,129,330 - 147,137,259 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11147,207,735 - 147,215,665 (-)NCBI
Celera1142,643,098 - 142,651,027 (-)NCBICelera
Cytogenetic Map1q32NCBI
Tmem126a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554147,216,286 - 7,224,475 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554147,214,408 - 7,224,499 (-)NCBIChiLan1.0ChiLan1.0
TMEM126A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2986,567,317 - 86,579,574 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11187,620,767 - 87,630,548 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01180,703,855 - 80,712,459 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11184,312,434 - 84,321,037 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1184,312,434 - 84,321,037 (+)Ensemblpanpan1.1panPan2
TMEM126A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12113,787,074 - 13,795,779 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2113,787,123 - 13,795,739 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2113,653,725 - 13,662,471 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02113,967,872 - 13,976,597 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2113,967,464 - 13,976,562 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12113,756,370 - 13,765,102 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02113,828,697 - 13,837,423 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02113,881,469 - 13,890,217 (-)NCBIUU_Cfam_GSD_1.0
Tmem126a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494771,938,905 - 71,945,739 (+)NCBIHiC_Itri_2
SpeTri2.0NW_00493649813,538,565 - 13,545,338 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TMEM126A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl919,576,295 - 19,585,277 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1919,576,241 - 19,585,869 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2921,846,389 - 21,855,417 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TMEM126A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1176,888,688 - 76,897,883 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl176,888,734 - 76,897,841 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604348,824,623 - 48,833,726 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tmem126a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248454,264,497 - 4,272,973 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TMEM126A
135 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_032273.4(TMEM126A):c.163C>T (p.Arg55Ter) single nucleotide variant Autosomal recessive optic atrophy, OPA7 type [RCV000000438]|TMEM126A-related disorder [RCV003914788]|not provided [RCV001699096] Chr11:85654139 [GRCh38]
Chr11:85365183 [GRCh37]
Chr11:11q14.1
pathogenic
NM_032273.4(TMEM126A):c.281-260G>A single nucleotide variant not provided [RCV001571230] Chr11:85655334 [GRCh38]
Chr11:85366378 [GRCh37]
Chr11:11q14.1
likely benign
GRCh38/hg38 11q14.1-14.2(chr11:84828563-86641166)x3 copy number gain See cases [RCV000050364] Chr11:84828563..86641166 [GRCh38]
Chr11:84539606..86352208 [GRCh37]
Chr11:84217254..86029856 [NCBI36]
Chr11:11q14.1-14.2
uncertain significance
GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1 copy number loss See cases [RCV000052710] Chr11:78232836..106779420 [GRCh38]
Chr11:77943882..106650146 [GRCh37]
Chr11:77621530..106155356 [NCBI36]
Chr11:11q14.1-22.3
pathogenic
GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1 copy number loss See cases [RCV000052711] Chr11:85242847..102920097 [GRCh38]
Chr11:84953891..102738968 [GRCh37]
Chr11:84631539..102296037 [NCBI36]
Chr11:11q14.1-22.2
pathogenic
GRCh38/hg38 11q14.1-14.2(chr11:78362208-86165380)x3 copy number gain See cases [RCV000053637] Chr11:78362208..86165380 [GRCh38]
Chr11:78073254..85876422 [GRCh37]
Chr11:77750902..85554070 [NCBI36]
Chr11:11q14.1-14.2
pathogenic
NM_032273.4(TMEM126A):c.96T>G (p.Leu32=) single nucleotide variant Autosomal recessive optic atrophy, OPA7 type [RCV000334757]|TMEM126A-related disorder [RCV003905200]|not provided [RCV000676591]|not specified [RCV000125526] Chr11:85654072 [GRCh38]
Chr11:85365116 [GRCh37]
Chr11:11q14.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032273.4(TMEM126A):c.191G>A (p.Arg64His) single nucleotide variant Autosomal recessive optic atrophy, OPA7 type [RCV000625489]|not provided [RCV000676593]|not specified [RCV000125527] Chr11:85654167 [GRCh38]
Chr11:85365211 [GRCh37]
Chr11:11q14.1
benign|likely benign|uncertain significance
NM_032273.4(TMEM126A):c.562T>A (p.Ser188Thr) single nucleotide variant Autosomal recessive optic atrophy, OPA7 type [RCV000391384]|TMEM126A-related disorder [RCV003925246]|not provided [RCV001519099]|not specified [RCV000125528] Chr11:85656475 [GRCh38]
Chr11:85367519 [GRCh37]
Chr11:11q14.1
benign|likely benign|uncertain significance
NM_032273.4(TMEM126A):c.20A>T (p.Asn7Ile) single nucleotide variant not provided [RCV001367498]|not specified [RCV004037011] Chr11:85650275 [GRCh38]
Chr11:85361319 [GRCh37]
Chr11:11q14.1
uncertain significance
GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1 copy number loss See cases [RCV000133838] Chr11:75941754..98357960 [GRCh38]
Chr11:75652798..98228688 [GRCh37]
Chr11:75330446..97733898 [NCBI36]
Chr11:11q13.5-22.1
pathogenic
GRCh38/hg38 11q14.1-14.2(chr11:84828513-86641208)x3 copy number gain See cases [RCV000134108] Chr11:84828513..86641208 [GRCh38]
Chr11:84539556..86352250 [GRCh37]
Chr11:84217204..86029898 [NCBI36]
Chr11:11q14.1-14.2
uncertain significance
GRCh38/hg38 11q14.1-14.2(chr11:84765986-86641166)x3 copy number gain See cases [RCV000139711] Chr11:84765986..86641166 [GRCh38]
Chr11:84477029..86352208 [GRCh37]
Chr11:84154677..86029856 [NCBI36]
Chr11:11q14.1-14.2
likely pathogenic|uncertain significance
GRCh38/hg38 11q14.1-14.2(chr11:84828563-86641166)x3 copy number gain See cases [RCV000148175] Chr11:84828563..86641166 [GRCh38]
Chr11:84539606..86352208 [GRCh37]
Chr11:84217254..86029856 [NCBI36]
Chr11:11q14.1-14.2
uncertain significance
NM_032273.4(TMEM126A):c.385C>G (p.Leu129Val) single nucleotide variant Autosomal recessive optic atrophy, OPA7 type [RCV001114564]|not provided [RCV000154005] Chr11:85655698 [GRCh38]
Chr11:85366742 [GRCh37]
Chr11:11q14.1
conflicting interpretations of pathogenicity|uncertain significance
NM_032273.4(TMEM126A):c.314G>A (p.Arg105Gln) single nucleotide variant Autosomal recessive optic atrophy, OPA7 type [RCV001114562]|not provided [RCV000676594] Chr11:85655627 [GRCh38]
Chr11:85366671 [GRCh37]
Chr11:11q14.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032273.4(TMEM126A):c.154A>G (p.Ser52Gly) single nucleotide variant Autosomal recessive optic atrophy, OPA7 type [RCV000401117]|TMEM126A-related disorder [RCV003937601]|not provided [RCV000890740]|not specified [RCV000177387] Chr11:85654130 [GRCh38]
Chr11:85365174 [GRCh37]
Chr11:11q14.1
benign|likely benign|uncertain significance
NM_032273.4(TMEM126A):c.87G>C (p.Arg29Ser) single nucleotide variant Autosomal recessive optic atrophy, OPA7 type [RCV001113195]|not provided [RCV000724291] Chr11:85654063 [GRCh38]
Chr11:85365107 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.-46_-45insACCG insertion Optic Atrophy, Recessive [RCV000374334]|not provided [RCV001610517]|not specified [RCV000200839] Chr11:85648050..85648051 [GRCh38]
Chr11:85359094..85359095 [GRCh37]
Chr11:11q14.1
benign|no classifications from unflagged records
NM_032273.4(TMEM126A):c.280+14C>T single nucleotide variant Autosomal recessive optic atrophy, OPA7 type [RCV001114561]|not provided [RCV001511680]|not specified [RCV000197252] Chr11:85654270 [GRCh38]
Chr11:85365314 [GRCh37]
Chr11:11q14.1
benign|likely benign
NM_032273.4(TMEM126A):c.395+5G>A single nucleotide variant Autosomal recessive optic atrophy, OPA7 type [RCV000352120]|not provided [RCV000962203]|not specified [RCV000198457] Chr11:85655713 [GRCh38]
Chr11:85366757 [GRCh37]
Chr11:11q14.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032273.4(TMEM126A):c.395+10A>G single nucleotide variant Autosomal recessive optic atrophy, OPA7 type [RCV000389999]|not provided [RCV000676595]|not specified [RCV000250500] Chr11:85655718 [GRCh38]
Chr11:85366762 [GRCh37]
Chr11:11q14.1
benign
NM_032273.4(TMEM126A):c.-69T>A single nucleotide variant Autosomal recessive optic atrophy, OPA7 type [RCV000320832]|not provided [RCV001712017] Chr11:85648028 [GRCh38]
Chr11:85359072 [GRCh37]
Chr11:11q14.1
benign
NM_032273.3(TMEM126A):c.-139C>T single nucleotide variant Optic Atrophy, Recessive [RCV000286799] Chr11:85647958 [GRCh38]
Chr11:85359002 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.-16G>C single nucleotide variant Autosomal recessive optic atrophy, OPA7 type [RCV000282094] Chr11:85648081 [GRCh38]
Chr11:85359125 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.531A>G (p.Gln177=) single nucleotide variant not provided [RCV000398867] Chr11:85656444 [GRCh38]
Chr11:85367488 [GRCh37]
Chr11:11q14.1
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25
pathogenic
NM_032273.4(TMEM126A):c.502A>G (p.Met168Val) single nucleotide variant Autosomal recessive optic atrophy, OPA7 type [RCV000364617]|not provided [RCV002520775] Chr11:85656415 [GRCh38]
Chr11:85367459 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.-7-21_-7-19del deletion not specified [RCV000604508] Chr11:85650226..85650228 [GRCh38]
Chr11:85361270..85361272 [GRCh37]
Chr11:11q14.1
likely benign
NM_032273.4(TMEM126A):c.487A>G (p.Ile163Val) single nucleotide variant Autosomal recessive optic atrophy, OPA7 type [RCV000312457]|not provided [RCV002522213] Chr11:85656400 [GRCh38]
Chr11:85367444 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.3(TMEM126A):c.-142C>T single nucleotide variant Optic Atrophy, Recessive [RCV000378815] Chr11:85647955 [GRCh38]
Chr11:85358999 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.367A>G (p.Ile123Val) single nucleotide variant not provided [RCV000593536]|not specified [RCV004024743] Chr11:85655680 [GRCh38]
Chr11:85366724 [GRCh37]
Chr11:11q14.1
uncertain significance
GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)x1 copy number loss See cases [RCV000446395] Chr11:80318996..96116221 [GRCh37]
Chr11:11q14.1-21
pathogenic
NM_032273.4(TMEM126A):c.87-19T>C single nucleotide variant not provided [RCV002522522]|not specified [RCV000418780] Chr11:85654044 [GRCh38]
Chr11:85365088 [GRCh37]
Chr11:11q14.1
likely benign
NM_032273.4(TMEM126A):c.234A>G (p.Thr78=) single nucleotide variant not provided [RCV001445327] Chr11:85654210 [GRCh38]
Chr11:85365254 [GRCh37]
Chr11:11q14.1
likely benign
NM_032273.4(TMEM126A):c.271T>C (p.Leu91=) single nucleotide variant not provided [RCV001416807] Chr11:85654247 [GRCh38]
Chr11:85365291 [GRCh37]
Chr11:11q14.1
likely benign
NM_032273.4(TMEM126A):c.54C>T (p.Ser18=) single nucleotide variant not specified [RCV000444705] Chr11:85650309 [GRCh38]
Chr11:85361353 [GRCh37]
Chr11:11q14.1
likely benign
GRCh37/hg19 11q14.1-14.2(chr11:85324893-85757693)x1 copy number loss See cases [RCV000448261] Chr11:85324893..85757693 [GRCh37]
Chr11:11q14.1-14.2
uncertain significance
GRCh37/hg19 11q14.1(chr11:85365100-85459435)x3 copy number gain See cases [RCV000447736] Chr11:85365100..85459435 [GRCh37]
Chr11:11q14.1
likely benign
GRCh37/hg19 11q14.1-21(chr11:84924674-93574799)x1 copy number loss See cases [RCV000448436] Chr11:84924674..93574799 [GRCh37]
Chr11:11q14.1-21
likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_032273.4(TMEM126A):c.107C>T (p.Ser36Leu) single nucleotide variant not provided [RCV000585538] Chr11:85654083 [GRCh38]
Chr11:85365127 [GRCh37]
Chr11:11q14.1
likely pathogenic|uncertain significance
NM_032273.4(TMEM126A):c.-12A>G single nucleotide variant not specified [RCV000601758] Chr11:85648085 [GRCh38]
Chr11:85359129 [GRCh37]
Chr11:11q14.1
likely benign
NM_032273.4(TMEM126A):c.-8+20G>C single nucleotide variant not specified [RCV000599928] Chr11:85648109 [GRCh38]
Chr11:85359153 [GRCh37]
Chr11:11q14.1
likely benign
NM_032273.4(TMEM126A):c.-7-4del deletion not specified [RCV000605242] Chr11:85650240 [GRCh38]
Chr11:85361284 [GRCh37]
Chr11:11q14.1
likely benign
NM_032273.4(TMEM126A):c.86+2T>C single nucleotide variant not provided [RCV000513449] Chr11:85650343 [GRCh38]
Chr11:85361387 [GRCh37]
Chr11:11q14.1
likely pathogenic
Single allele deletion Exudative vitreoretinopathy 1 [RCV000677964] Chr11:83315294..86755595 [GRCh37]
Chr11:11q14.1-14.2
pathogenic
NM_032273.4(TMEM126A):c.190C>T (p.Arg64Cys) single nucleotide variant not provided [RCV000676592] Chr11:85654166 [GRCh38]
Chr11:85365210 [GRCh37]
Chr11:11q14.1
uncertain significance
GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3 copy number gain not provided [RCV000683374] Chr11:71588805..116680918 [GRCh37]
Chr11:11q13.4-23.3
pathogenic
GRCh37/hg19 11q14.1-14.3(chr11:81771852-90851187) copy number loss Intellectual disability [RCV000721939] Chr11:81771852..90851187 [GRCh37]
Chr11:11q14.1-14.3
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q14.1-23.2(chr11:80053454-113316236)x1 copy number loss not provided [RCV000737595] Chr11:80053454..113316236 [GRCh37]
Chr11:11q14.1-23.2
pathogenic
GRCh37/hg19 11q14.1(chr11:85266321-85545180)x3 copy number gain not provided [RCV000737603] Chr11:85266321..85545180 [GRCh37]
Chr11:11q14.1
benign
GRCh37/hg19 11q14.1(chr11:85303304-85406427)x3 copy number gain not provided [RCV000737604] Chr11:85303304..85406427 [GRCh37]
Chr11:11q14.1
benign
GRCh37/hg19 11q14.1-21(chr11:83179196-94716998)x3 copy number gain not provided [RCV000750120] Chr11:83179196..94716998 [GRCh37]
Chr11:11q14.1-21
pathogenic
GRCh37/hg19 11q14.1(chr11:85105113-85374993)x3 copy number gain not provided [RCV000750131] Chr11:85105113..85374993 [GRCh37]
Chr11:11q14.1
benign
NM_032273.4(TMEM126A):c.313C>T (p.Arg105Trp) single nucleotide variant not provided [RCV001041146] Chr11:85655626 [GRCh38]
Chr11:85366670 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.338T>C (p.Ile113Thr) single nucleotide variant not provided [RCV001034777] Chr11:85655651 [GRCh38]
Chr11:85366695 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.281-122C>G single nucleotide variant not provided [RCV000835878] Chr11:85655472 [GRCh38]
Chr11:85366516 [GRCh37]
Chr11:11q14.1
benign
NM_032273.4(TMEM126A):c.280+203T>C single nucleotide variant not provided [RCV000832582] Chr11:85654459 [GRCh38]
Chr11:85365503 [GRCh37]
Chr11:11q14.1
benign
NM_032273.4(TMEM126A):c.402A>G (p.Gln134=) single nucleotide variant TMEM126A-related disorder [RCV003948025]|not provided [RCV000828697] Chr11:85656315 [GRCh38]
Chr11:85367359 [GRCh37]
Chr11:11q14.1
likely benign
GRCh37/hg19 11q14.1-14.2(chr11:83530179-87059742)x1 copy number loss not provided [RCV001006422] Chr11:83530179..87059742 [GRCh37]
Chr11:11q14.1-14.2
pathogenic
NM_032273.4(TMEM126A):c.433T>G (p.Leu145Val) single nucleotide variant not provided [RCV001210760] Chr11:85656346 [GRCh38]
Chr11:85367390 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.259G>A (p.Val87Ile) single nucleotide variant not provided [RCV001058389] Chr11:85654235 [GRCh38]
Chr11:85365279 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.402_405dup (p.Ala136fs) microsatellite not provided [RCV001052485] Chr11:85656310..85656311 [GRCh38]
Chr11:85367354..85367355 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.563C>A (p.Ser188Tyr) single nucleotide variant Autosomal recessive optic atrophy, OPA7 type [RCV001108930] Chr11:85656476 [GRCh38]
Chr11:85367520 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.482T>C (p.Phe161Ser) single nucleotide variant not provided [RCV001212150] Chr11:85656395 [GRCh38]
Chr11:85367439 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.449G>C (p.Arg150Thr) single nucleotide variant not provided [RCV001245702] Chr11:85656362 [GRCh38]
Chr11:85367406 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.396-64C>T single nucleotide variant not provided [RCV001609623] Chr11:85656245 [GRCh38]
Chr11:85367289 [GRCh37]
Chr11:11q14.1
benign
NC_000011.10:g.85656581A>G single nucleotide variant not provided [RCV001559350] Chr11:85656581 [GRCh38]
Chr11:85367625 [GRCh37]
Chr11:11q14.1
likely benign
NM_032273.4(TMEM126A):c.368T>C (p.Ile123Thr) single nucleotide variant Autosomal recessive optic atrophy, OPA7 type [RCV001114563]|not specified [RCV004032187] Chr11:85655681 [GRCh38]
Chr11:85366725 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.233C>G (p.Thr78Arg) single nucleotide variant not provided [RCV001240883] Chr11:85654209 [GRCh38]
Chr11:85365253 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.-8+80A>C single nucleotide variant not provided [RCV001594795] Chr11:85648169 [GRCh38]
Chr11:85359213 [GRCh37]
Chr11:11q14.1
benign
GRCh37/hg19 11q14.1-14.3(chr11:84830143-92029933)x3 copy number gain not provided [RCV001006426] Chr11:84830143..92029933 [GRCh37]
Chr11:11q14.1-14.3
pathogenic
NM_032273.4(TMEM126A):c.-98C>G single nucleotide variant Autosomal recessive optic atrophy, OPA7 type [RCV001113193] Chr11:85647999 [GRCh38]
Chr11:85359043 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.20A>G (p.Asn7Ser) single nucleotide variant Autosomal recessive optic atrophy, OPA7 type [RCV001113194]|not provided [RCV001856494]|not specified [RCV004678960] Chr11:85650275 [GRCh38]
Chr11:85361319 [GRCh37]
Chr11:11q14.1
uncertain significance
NC_000011.10:g.85656658C>T single nucleotide variant not provided [RCV001643889] Chr11:85656658 [GRCh38]
Chr11:85367702 [GRCh37]
Chr11:11q14.1
benign
NM_032273.4(TMEM126A):c.431T>C (p.Ile144Thr) single nucleotide variant not provided [RCV001207395]|not specified [RCV004033699] Chr11:85656344 [GRCh38]
Chr11:85367388 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.395+4G>A single nucleotide variant not provided [RCV001041291] Chr11:85655712 [GRCh38]
Chr11:85366756 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.21TAA[1] (p.Asn8del) microsatellite not provided [RCV001043952] Chr11:85650274..85650276 [GRCh38]
Chr11:85361318..85361320 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.193A>G (p.Ile65Val) single nucleotide variant not provided [RCV001219233] Chr11:85654169 [GRCh38]
Chr11:85365213 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.426G>T (p.Gly142=) single nucleotide variant not provided [RCV001216951] Chr11:85656339 [GRCh38]
Chr11:85367383 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.583del (p.His195fs) deletion not provided [RCV001319242] Chr11:85656496 [GRCh38]
Chr11:85367540 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.36A>G (p.Ile12Met) single nucleotide variant not provided [RCV001300219] Chr11:85650291 [GRCh38]
Chr11:85361335 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.420_421dup (p.Lys141fs) microsatellite Optic atrophy 7 [RCV001331471] Chr11:85656328..85656329 [GRCh38]
Chr11:85367372..85367373 [GRCh37]
Chr11:11q14.1
pathogenic
NM_032273.4(TMEM126A):c.154dup (p.Ser52fs) duplication not provided [RCV001348595] Chr11:85654129..85654130 [GRCh38]
Chr11:85365173..85365174 [GRCh37]
Chr11:11q14.1
pathogenic|uncertain significance
NM_032273.4(TMEM126A):c.63T>C (p.Ile21=) single nucleotide variant not provided [RCV001433520] Chr11:85650318 [GRCh38]
Chr11:85361362 [GRCh37]
Chr11:11q14.1
likely benign
NM_032273.4(TMEM126A):c.440A>G (p.Tyr147Cys) single nucleotide variant not provided [RCV001318453] Chr11:85656353 [GRCh38]
Chr11:85367397 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.410dup (p.Leu138fs) duplication not provided [RCV001343670] Chr11:85656322..85656323 [GRCh38]
Chr11:85367366..85367367 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.521G>C (p.Gly174Ala) single nucleotide variant not provided [RCV001309779] Chr11:85656434 [GRCh38]
Chr11:85367478 [GRCh37]
Chr11:11q14.1
uncertain significance
NC_000011.9:g.(?_85361300)_(85361405_?)dup duplication not provided [RCV001325669] Chr11:85361300..85361405 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.80C>G (p.Ala27Gly) single nucleotide variant not provided [RCV001346151]|not specified [RCV004036476] Chr11:85650335 [GRCh38]
Chr11:85361379 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.299C>A (p.Thr100Asn) single nucleotide variant not provided [RCV001358955] Chr11:85655612 [GRCh38]
Chr11:85366656 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.62T>G (p.Ile21Ser) single nucleotide variant not provided [RCV001357633] Chr11:85650317 [GRCh38]
Chr11:85361361 [GRCh37]
Chr11:11q14.1
uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3
pathogenic
NM_032273.4(TMEM126A):c.86+13_86+15del microsatellite not provided [RCV001504400] Chr11:85650351..85650353 [GRCh38]
Chr11:85361395..85361397 [GRCh37]
Chr11:11q14.1
likely benign
NM_032273.4(TMEM126A):c.281-10T>G single nucleotide variant not provided [RCV001399932] Chr11:85655584 [GRCh38]
Chr11:85366628 [GRCh37]
Chr11:11q14.1
likely benign
NM_032273.4(TMEM126A):c.372T>C (p.Pro124=) single nucleotide variant not provided [RCV001448638] Chr11:85655685 [GRCh38]
Chr11:85366729 [GRCh37]
Chr11:11q14.1
likely benign
NM_032273.4(TMEM126A):c.361T>C (p.Leu121=) single nucleotide variant not provided [RCV001446233] Chr11:85655674 [GRCh38]
Chr11:85366718 [GRCh37]
Chr11:11q14.1
likely benign
NM_032273.4(TMEM126A):c.354T>C (p.Pro118=) single nucleotide variant not provided [RCV001412240] Chr11:85655667 [GRCh38]
Chr11:85366711 [GRCh37]
Chr11:11q14.1
likely benign
NM_032273.4(TMEM126A):c.69G>A (p.Gln23=) single nucleotide variant not provided [RCV001409738] Chr11:85650324 [GRCh38]
Chr11:85361368 [GRCh37]
Chr11:11q14.1
likely benign
NM_032273.4(TMEM126A):c.492G>A (p.Leu164=) single nucleotide variant not provided [RCV001400825] Chr11:85656405 [GRCh38]
Chr11:85367449 [GRCh37]
Chr11:11q14.1
likely benign
NM_032273.4(TMEM126A):c.480A>G (p.Leu160=) single nucleotide variant not provided [RCV001403585] Chr11:85656393 [GRCh38]
Chr11:85367437 [GRCh37]
Chr11:11q14.1
likely benign
NM_032273.4(TMEM126A):c.306C>G (p.Thr102=) single nucleotide variant not provided [RCV001450966] Chr11:85655619 [GRCh38]
Chr11:85366663 [GRCh37]
Chr11:11q14.1
likely benign
NM_032273.4(TMEM126A):c.-8+121A>G single nucleotide variant not provided [RCV001717046] Chr11:85648210 [GRCh38]
Chr11:85359254 [GRCh37]
Chr11:11q14.1
benign
NM_032273.4(TMEM126A):c.280+8C>A single nucleotide variant not provided [RCV001467113] Chr11:85654264 [GRCh38]
Chr11:85365308 [GRCh37]
Chr11:11q14.1
likely benign
NM_032273.4(TMEM126A):c.87-2A>C single nucleotide variant not provided [RCV001378764] Chr11:85654061 [GRCh38]
Chr11:85365105 [GRCh37]
Chr11:11q14.1
likely pathogenic
NM_032273.4(TMEM126A):c.87-9C>T single nucleotide variant not provided [RCV001489475] Chr11:85654054 [GRCh38]
Chr11:85365098 [GRCh37]
Chr11:11q14.1
likely benign
NM_032273.4(TMEM126A):c.329G>A (p.Gly110Asp) single nucleotide variant Autosomal recessive optic atrophy, OPA7 type [RCV002259426] Chr11:85655642 [GRCh38]
Chr11:85366686 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.279A>G (p.Thr93=) single nucleotide variant not provided [RCV001909884] Chr11:85654255 [GRCh38]
Chr11:85365299 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.43G>A (p.Val15Ile) single nucleotide variant not provided [RCV001949063] Chr11:85650298 [GRCh38]
Chr11:85361342 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.492G>C (p.Leu164Phe) single nucleotide variant not provided [RCV001971142] Chr11:85656405 [GRCh38]
Chr11:85367449 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.106T>C (p.Ser36Pro) single nucleotide variant not provided [RCV002008483] Chr11:85654082 [GRCh38]
Chr11:85365126 [GRCh37]
Chr11:11q14.1
uncertain significance
GRCh37/hg19 11q14.1-14.2(chr11:85324893-85757693) copy number loss not specified [RCV002052943] Chr11:85324893..85757693 [GRCh37]
Chr11:11q14.1-14.2
uncertain significance
NM_032273.4(TMEM126A):c.167G>A (p.Arg56His) single nucleotide variant not provided [RCV001986162] Chr11:85654143 [GRCh38]
Chr11:85365187 [GRCh37]
Chr11:11q14.1
uncertain significance
GRCh37/hg19 11q14.1-21(chr11:84924674-93574799) copy number loss not specified [RCV002052942] Chr11:84924674..93574799 [GRCh37]
Chr11:11q14.1-21
likely pathogenic
NM_032273.4(TMEM126A):c.535_537del (p.Lys179del) deletion not provided [RCV001890584] Chr11:85656448..85656450 [GRCh38]
Chr11:85367492..85367494 [GRCh37]
Chr11:11q14.1
uncertain significance
GRCh37/hg19 11q14.1-22.1(chr11:77855209-98002445) copy number loss not specified [RCV002052940] Chr11:77855209..98002445 [GRCh37]
Chr11:11q14.1-22.1
pathogenic
NM_032273.4(TMEM126A):c.461C>T (p.Pro154Leu) single nucleotide variant not provided [RCV001984312] Chr11:85656374 [GRCh38]
Chr11:85367418 [GRCh37]
Chr11:11q14.1
uncertain significance
GRCh37/hg19 11q14.1-21(chr11:80318996-96116221) copy number loss not specified [RCV002052941] Chr11:80318996..96116221 [GRCh37]
Chr11:11q14.1-21
pathogenic
NM_032273.4(TMEM126A):c.361T>G (p.Leu121Val) single nucleotide variant not provided [RCV001948490] Chr11:85655674 [GRCh38]
Chr11:85366718 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.350A>T (p.Tyr117Phe) single nucleotide variant not provided [RCV001934041] Chr11:85655663 [GRCh38]
Chr11:85366707 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.239A>C (p.Asp80Ala) single nucleotide variant not provided [RCV002036125]|not specified [RCV004044778] Chr11:85654215 [GRCh38]
Chr11:85365259 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.253T>C (p.Cys85Arg) single nucleotide variant not provided [RCV001954036] Chr11:85654229 [GRCh38]
Chr11:85365273 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.418_421del (p.His140fs) microsatellite not provided [RCV002028274] Chr11:85656329..85656332 [GRCh38]
Chr11:85367373..85367376 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.410T>C (p.Leu137Pro) single nucleotide variant not provided [RCV002047185] Chr11:85656323 [GRCh38]
Chr11:85367367 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.337A>G (p.Ile113Val) single nucleotide variant not provided [RCV001878140] Chr11:85655650 [GRCh38]
Chr11:85366694 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.493C>G (p.Leu165Val) single nucleotide variant not provided [RCV001996037] Chr11:85656406 [GRCh38]
Chr11:85367450 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.164G>A (p.Arg55Gln) single nucleotide variant not provided [RCV001989451] Chr11:85654140 [GRCh38]
Chr11:85365184 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.161T>A (p.Phe54Tyr) single nucleotide variant not provided [RCV001924619] Chr11:85654137 [GRCh38]
Chr11:85365181 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.194T>C (p.Ile65Thr) single nucleotide variant not provided [RCV001907101] Chr11:85654170 [GRCh38]
Chr11:85365214 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.13A>G (p.Lys5Glu) single nucleotide variant not provided [RCV001989114] Chr11:85650268 [GRCh38]
Chr11:85361312 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.328G>A (p.Gly110Ser) single nucleotide variant not provided [RCV001995220] Chr11:85655641 [GRCh38]
Chr11:85366685 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.128C>A (p.Ala43Asp) single nucleotide variant not provided [RCV002009674] Chr11:85654104 [GRCh38]
Chr11:85365148 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.73C>G (p.Pro25Ala) single nucleotide variant not provided [RCV002031637] Chr11:85650328 [GRCh38]
Chr11:85361372 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.87-19T>G single nucleotide variant not provided [RCV002080065] Chr11:85654044 [GRCh38]
Chr11:85365088 [GRCh37]
Chr11:11q14.1
likely benign
NM_032273.4(TMEM126A):c.286T>C (p.Leu96=) single nucleotide variant not provided [RCV002214808] Chr11:85655599 [GRCh38]
Chr11:85366643 [GRCh37]
Chr11:11q14.1
likely benign
NM_032273.4(TMEM126A):c.280+12T>C single nucleotide variant not provided [RCV002077852] Chr11:85654268 [GRCh38]
Chr11:85365312 [GRCh37]
Chr11:11q14.1
likely benign
NM_032273.4(TMEM126A):c.281-12T>C single nucleotide variant not provided [RCV002149933] Chr11:85655582 [GRCh38]
Chr11:85366626 [GRCh37]
Chr11:11q14.1
likely benign
NM_032273.4(TMEM126A):c.87-17T>A single nucleotide variant not provided [RCV002131982] Chr11:85654046 [GRCh38]
Chr11:85365090 [GRCh37]
Chr11:11q14.1
likely benign
NM_032273.4(TMEM126A):c.552C>T (p.Ala184=) single nucleotide variant not provided [RCV002153567] Chr11:85656465 [GRCh38]
Chr11:85367509 [GRCh37]
Chr11:11q14.1
likely benign
NM_032273.4(TMEM126A):c.172T>C (p.Leu58=) single nucleotide variant not provided [RCV002130957] Chr11:85654148 [GRCh38]
Chr11:85365192 [GRCh37]
Chr11:11q14.1
likely benign
NM_032273.4(TMEM126A):c.281-19T>C single nucleotide variant not provided [RCV002190882] Chr11:85655575 [GRCh38]
Chr11:85366619 [GRCh37]
Chr11:11q14.1
likely benign
NM_032273.4(TMEM126A):c.281-6dup duplication not provided [RCV002202780] Chr11:85655585..85655586 [GRCh38]
Chr11:85366629..85366630 [GRCh37]
Chr11:11q14.1
likely benign
NM_032273.4(TMEM126A):c.395+9_395+10delinsCG indel not provided [RCV002140571] Chr11:85655717..85655718 [GRCh38]
Chr11:85366761..85366762 [GRCh37]
Chr11:11q14.1
likely benign
NM_032273.4(TMEM126A):c.240C>T (p.Asp80=) single nucleotide variant not provided [RCV002204328] Chr11:85654216 [GRCh38]
Chr11:85365260 [GRCh37]
Chr11:11q14.1
likely benign
NM_032273.4(TMEM126A):c.195A>T (p.Ile65=) single nucleotide variant not provided [RCV002144113] Chr11:85654171 [GRCh38]
Chr11:85365215 [GRCh37]
Chr11:11q14.1
likely benign
NM_032273.4(TMEM126A):c.315G>C (p.Arg105=) single nucleotide variant not provided [RCV002176094] Chr11:85655628 [GRCh38]
Chr11:85366672 [GRCh37]
Chr11:11q14.1
likely benign
NM_032273.4(TMEM126A):c.281-13A>C single nucleotide variant not provided [RCV002120468] Chr11:85655581 [GRCh38]
Chr11:85366625 [GRCh37]
Chr11:11q14.1
likely benign
NC_000011.9:g.(?_85339652)_(86666127_?)del deletion not provided [RCV003122860] Chr11:85339652..86666127 [GRCh37]
Chr11:11q14.1-14.2
pathogenic
NC_000011.9:g.(?_85339652)_(85367545_?)dup duplication not provided [RCV003122861] Chr11:85339652..85367545 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.329G>C (p.Gly110Ala) single nucleotide variant not provided [RCV002293937] Chr11:85655642 [GRCh38]
Chr11:85366686 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.352C>T (p.Pro118Ser) single nucleotide variant not provided [RCV003152038] Chr11:85655665 [GRCh38]
Chr11:85366709 [GRCh37]
Chr11:11q14.1
uncertain significance
GRCh37/hg19 11q14.1-14.3(chr11:80562738-88663067)x1 copy number loss not provided [RCV002474501] Chr11:80562738..88663067 [GRCh37]
Chr11:11q14.1-14.3
pathogenic
NM_032273.4(TMEM126A):c.256T>C (p.Phe86Leu) single nucleotide variant not provided [RCV002301379] Chr11:85654232 [GRCh38]
Chr11:85365276 [GRCh37]
Chr11:11q14.1
uncertain significance
GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1 copy number loss not provided [RCV002475722] Chr11:81478509..104667040 [GRCh37]
Chr11:11q14.1-22.3
pathogenic
NM_032273.4(TMEM126A):c.278C>T (p.Thr93Ile) single nucleotide variant not provided [RCV003034560] Chr11:85654254 [GRCh38]
Chr11:85365298 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.573C>A (p.Gly191=) single nucleotide variant not provided [RCV002727145] Chr11:85656486 [GRCh38]
Chr11:85367530 [GRCh37]
Chr11:11q14.1
likely benign
NM_032273.4(TMEM126A):c.258dup (p.Val87fs) duplication not provided [RCV003012355] Chr11:85654230..85654231 [GRCh38]
Chr11:85365274..85365275 [GRCh37]
Chr11:11q14.1
pathogenic
NM_032273.4(TMEM126A):c.281-7_281-6del deletion not provided [RCV002858016] Chr11:85655586..85655587 [GRCh38]
Chr11:85366630..85366631 [GRCh37]
Chr11:11q14.1
likely benign
NM_032273.4(TMEM126A):c.545T>C (p.Ile182Thr) single nucleotide variant not provided [RCV002685814] Chr11:85656458 [GRCh38]
Chr11:85367502 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.550G>C (p.Ala184Pro) single nucleotide variant not provided [RCV002927862] Chr11:85656463 [GRCh38]
Chr11:85367507 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.444G>T (p.Trp148Cys) single nucleotide variant not provided [RCV002696237] Chr11:85656357 [GRCh38]
Chr11:85367401 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.87-19T>A single nucleotide variant not provided [RCV002910084] Chr11:85654044 [GRCh38]
Chr11:85365088 [GRCh37]
Chr11:11q14.1
likely benign
NM_032273.4(TMEM126A):c.405_409del (p.Ala136fs) deletion not provided [RCV002706048] Chr11:85656316..85656320 [GRCh38]
Chr11:85367360..85367364 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.395+11A>G single nucleotide variant not provided [RCV002885349] Chr11:85655719 [GRCh38]
Chr11:85366763 [GRCh37]
Chr11:11q14.1
likely benign
NM_032273.4(TMEM126A):c.488T>C (p.Ile163Thr) single nucleotide variant not provided [RCV002780426] Chr11:85656401 [GRCh38]
Chr11:85367445 [GRCh37]
Chr11:11q14.1
benign
NM_032273.4(TMEM126A):c.396-4dup duplication not provided [RCV002622778] Chr11:85656304..85656305 [GRCh38]
Chr11:85367348..85367349 [GRCh37]
Chr11:11q14.1
likely benign
NM_032273.4(TMEM126A):c.45T>A (p.Val15=) single nucleotide variant not provided [RCV002735623] Chr11:85650300 [GRCh38]
Chr11:85361344 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.233C>A (p.Thr78Lys) single nucleotide variant not provided [RCV003036398] Chr11:85654209 [GRCh38]
Chr11:85365253 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.293G>C (p.Cys98Ser) single nucleotide variant not provided [RCV002691115] Chr11:85655606 [GRCh38]
Chr11:85366650 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.136T>C (p.Cys46Arg) single nucleotide variant not specified [RCV004168003] Chr11:85654112 [GRCh38]
Chr11:85365156 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.260dup (p.Ser88fs) duplication not provided [RCV002667765] Chr11:85654235..85654236 [GRCh38]
Chr11:85365279..85365280 [GRCh37]
Chr11:11q14.1
pathogenic
NM_032273.4(TMEM126A):c.67C>G (p.Gln23Glu) single nucleotide variant not provided [RCV002918705] Chr11:85650322 [GRCh38]
Chr11:85361366 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.90T>A (p.Asn30Lys) single nucleotide variant not provided [RCV002791190] Chr11:85654066 [GRCh38]
Chr11:85365110 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.421A>C (p.Lys141Gln) single nucleotide variant not provided [RCV003057445] Chr11:85656334 [GRCh38]
Chr11:85367378 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.87-14T>A single nucleotide variant not provided [RCV002593870] Chr11:85654049 [GRCh38]
Chr11:85365093 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.581T>C (p.Ile194Thr) single nucleotide variant not provided [RCV002918932] Chr11:85656494 [GRCh38]
Chr11:85367538 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.382G>A (p.Gly128Ser) single nucleotide variant not provided [RCV003031331] Chr11:85655695 [GRCh38]
Chr11:85366739 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.188C>T (p.Ala63Val) single nucleotide variant not provided [RCV003046079] Chr11:85654164 [GRCh38]
Chr11:85365208 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.280+17T>C single nucleotide variant not provided [RCV002646735] Chr11:85654273 [GRCh38]
Chr11:85365317 [GRCh37]
Chr11:11q14.1
likely benign
NM_032273.4(TMEM126A):c.351C>T (p.Tyr117=) single nucleotide variant not provided [RCV002658373] Chr11:85655664 [GRCh38]
Chr11:85366708 [GRCh37]
Chr11:11q14.1
likely benign
NM_032273.4(TMEM126A):c.259G>T (p.Val87Leu) single nucleotide variant not provided [RCV002604552] Chr11:85654235 [GRCh38]
Chr11:85365279 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.502_503del (p.Met168fs) deletion not provided [RCV002604061] Chr11:85656414..85656415 [GRCh38]
Chr11:85367458..85367459 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.116T>C (p.Val39Ala) single nucleotide variant not provided [RCV003052063] Chr11:85654092 [GRCh38]
Chr11:85365136 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.53C>A (p.Ser18Tyr) single nucleotide variant not provided [RCV003049613] Chr11:85650308 [GRCh38]
Chr11:85361352 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.166C>T (p.Arg56Cys) single nucleotide variant not provided [RCV002590293]|not specified [RCV004686729] Chr11:85654142 [GRCh38]
Chr11:85365186 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.437G>A (p.Ser146Asn) single nucleotide variant not specified [RCV004684396] Chr11:85656350 [GRCh38]
Chr11:85367394 [GRCh37]
Chr11:11q14.1
likely benign
NM_032273.4(TMEM126A):c.449G>A (p.Arg150Lys) single nucleotide variant not specified [RCV004684397] Chr11:85656362 [GRCh38]
Chr11:85367406 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.333T>C (p.Leu111=) single nucleotide variant not provided [RCV003543882] Chr11:85655646 [GRCh38]
Chr11:85366690 [GRCh37]
Chr11:11q14.1
likely benign
NM_032273.4(TMEM126A):c.395+11A>C single nucleotide variant not provided [RCV003696333] Chr11:85655719 [GRCh38]
Chr11:85366763 [GRCh37]
Chr11:11q14.1
likely benign
NM_032273.4(TMEM126A):c.216A>G (p.Ala72=) single nucleotide variant not provided [RCV003661107] Chr11:85654192 [GRCh38]
Chr11:85365236 [GRCh37]
Chr11:11q14.1
likely benign
NM_032273.4(TMEM126A):c.396-18C>A single nucleotide variant not provided [RCV003711793] Chr11:85656291 [GRCh38]
Chr11:85367335 [GRCh37]
Chr11:11q14.1
likely benign
NM_032273.4(TMEM126A):c.108G>A (p.Ser36=) single nucleotide variant not provided [RCV003868518] Chr11:85654084 [GRCh38]
Chr11:85365128 [GRCh37]
Chr11:11q14.1
likely benign
NM_032273.4(TMEM126A):c.396-8del deletion not provided [RCV003566919] Chr11:85656298 [GRCh38]
Chr11:85367342 [GRCh37]
Chr11:11q14.1
benign
NM_032273.4(TMEM126A):c.389C>T (p.Ala130Val) single nucleotide variant not specified [RCV004474904] Chr11:85655702 [GRCh38]
Chr11:85366746 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_032273.4(TMEM126A):c.52T>C (p.Ser18Pro) single nucleotide variant not provided [RCV004766463] Chr11:85650307 [GRCh38]
Chr11:85361351 [GRCh37]
Chr11:11q14.1
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:389
Count of miRNA genes:184
Interacting mature miRNAs:201
Transcripts:ENST00000304511, ENST00000525353, ENST00000528105, ENST00000528531, ENST00000531366, ENST00000532180
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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
1357380BW64_HBody weight QTL 64 (human)2.2Body weightpercent fat after exercise training116097893786978937Human
407241222GWAS890198_Hmelanoma QTL GWAS890198 (human)0.0000001melanoma118565413085654131Human

Markers in Region
RH48531  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371185,366,065 - 85,366,187UniSTSGRCh37
Build 361185,043,713 - 85,043,835RGDNCBI36
Celera1182,675,380 - 82,675,502RGD
Cytogenetic Map11q14.1UniSTS
HuRef1181,663,359 - 81,663,481UniSTS
GeneMap99-GB4 RH Map11299.07UniSTS
RH45683  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371185,363,476 - 85,363,663UniSTSGRCh37
Build 361185,041,124 - 85,041,311RGDNCBI36
Celera1182,672,791 - 82,672,978RGD
Cytogenetic Map11q14.1UniSTS
HuRef1181,660,770 - 81,660,957UniSTS
GeneMap99-GB4 RH Map11299.07UniSTS


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 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence


Ensembl Acc Id: ENST00000304511   ⟹   ENSP00000306887
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1185,647,967 - 85,656,542 (+)Ensembl
Ensembl Acc Id: ENST00000525353   ⟹   ENSP00000431993
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1185,647,967 - 85,656,509 (+)Ensembl
Ensembl Acc Id: ENST00000528105   ⟹   ENSP00000436590
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1185,647,977 - 85,656,542 (+)Ensembl
Ensembl Acc Id: ENST00000528531
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1185,655,409 - 85,656,466 (+)Ensembl
Ensembl Acc Id: ENST00000531366   ⟹   ENSP00000436723
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1185,647,987 - 85,656,547 (+)Ensembl
Ensembl Acc Id: ENST00000532180   ⟹   ENSP00000434357
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1185,648,021 - 85,656,543 (+)Ensembl
RefSeq Acc Id: NM_001244735   ⟹   NP_001231664
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,647,967 - 85,656,542 (+)NCBI
GRCh371185,358,963 - 85,367,597 (+)NCBI
HuRef1181,656,256 - 81,664,891 (+)NCBI
CHM1_11185,243,754 - 85,252,388 (+)NCBI
T2T-CHM13v2.01185,584,644 - 85,593,220 (+)NCBI
Sequence:
RefSeq Acc Id: NM_032273   ⟹   NP_115649
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,647,967 - 85,656,542 (+)NCBI
GRCh371185,358,963 - 85,367,597 (+)RGD
Build 361185,036,693 - 85,045,235 (+)NCBI Archive
Celera1182,668,277 - 82,676,912 (+)RGD
HuRef1181,656,256 - 81,664,891 (+)ENTREZGENE
CHM1_11185,243,754 - 85,252,388 (+)NCBI
T2T-CHM13v2.01185,584,644 - 85,593,220 (+)NCBI
Sequence:
RefSeq Acc Id: NP_115649   ⟸   NM_032273
- Peptide Label: isoform 1
- UniProtKB: B2R570 (UniProtKB/Swiss-Prot),   E9PI16 (UniProtKB/Swiss-Prot),   Q9H061 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001231664   ⟸   NM_001244735
- Peptide Label: isoform 2
- UniProtKB: Q9H061 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000436723   ⟸   ENST00000531366
Ensembl Acc Id: ENSP00000434357   ⟸   ENST00000532180
Ensembl Acc Id: ENSP00000431993   ⟸   ENST00000525353
Ensembl Acc Id: ENSP00000436590   ⟸   ENST00000528105
Ensembl Acc Id: ENSP00000306887   ⟸   ENST00000304511

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H061-F1-model_v2 AlphaFold Q9H061 1-195 view protein structure

Promoters
RGD ID:6789438
Promoter ID:HG_KWN:13864
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_032273
Position:
Human AssemblyChrPosition (strand)Source
Build 361185,036,379 - 85,036,879 (+)MPROMDB
RGD ID:6810188
Promoter ID:HG_ACW:13665
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:TMEM126A.EAPR07,   TMEM126A.FAPR07-UNSPLICED,   TMEM126A.GAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 361185,042,651 - 85,043,151 (+)MPROMDB
RGD ID:7221715
Promoter ID:EPDNEW_H16603
Type:initiation region
Name:TMEM126A_1
Description:transmembrane protein 126A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,647,967 - 85,648,027EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25382 AgrOrtholog
COSMIC TMEM126A COSMIC
Ensembl Genes ENSG00000171202 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000304511 ENTREZGENE
  ENST00000304511.7 UniProtKB/Swiss-Prot
  ENST00000525353.5 UniProtKB/TrEMBL
  ENST00000528105 ENTREZGENE
  ENST00000528105.5 UniProtKB/Swiss-Prot
  ENST00000531366.5 UniProtKB/TrEMBL
  ENST00000532180.1 UniProtKB/Swiss-Prot
GTEx ENSG00000171202 GTEx
HGNC ID HGNC:25382 ENTREZGENE
Human Proteome Map TMEM126A Human Proteome Map
InterPro TMEM126 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:84233 UniProtKB/Swiss-Prot
NCBI Gene 84233 ENTREZGENE
OMIM 612988 OMIM
PANTHER PTHR16296 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRANSMEMBRANE PROTEIN 126A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TMEM126 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA143485645 PharmGKB
UniProt B2R570 ENTREZGENE
  E9PI16 ENTREZGENE
  E9PI90_HUMAN UniProtKB/TrEMBL
  E9PIH8_HUMAN UniProtKB/TrEMBL
  Q9H061 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B2R570 UniProtKB/Swiss-Prot
  E9PI16 UniProtKB/Swiss-Prot