EDARADD (EDAR associated via death domain) - Rat Genome Database

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Gene: EDARADD (EDAR associated via death domain) Homo sapiens
Analyze
Symbol: EDARADD
Name: EDAR associated via death domain
RGD ID: 1351297
HGNC Page HGNC:14341
Description: Predicted to enable magnesium ion binding activity and phosphopyruvate hydratase activity. Predicted to be involved in cell differentiation; glycolytic process; and signal transduction. Predicted to act upstream of or within hair follicle development; odontogenesis of dentin-containing tooth; and trachea gland development. Predicted to be located in cytosol. Predicted to be part of phosphopyruvate hydratase complex. Implicated in ectodermal dysplasia 11A and ectodermal dysplasia 11B.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CR; crinkled homolog; ECTD11A; ECTD11B; ectodysplasia A receptor associated death domain; ectodysplasin A receptor associated adapter protein; ectodysplasin-A receptor-associated adapter protein; ED3; EDA3; EDAR associated death domain; EDAR-associated death domain; EDAR-associated death domain protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381236,348,259 - 236,484,930 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1236,348,257 - 236,502,915 (+)EnsemblGRCh38hg38GRCh38
GRCh371236,511,559 - 236,648,230 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361234,624,303 - 234,714,631 (+)NCBINCBI36Build 36hg18NCBI36
Build 341232,883,720 - 232,974,049NCBI
Celera1209,804,771 - 209,895,082 (+)NCBICelera
Cytogenetic Map1q42.3-q43NCBI
HuRef1207,012,849 - 207,103,467 (+)NCBIHuRef
CHM1_11237,829,988 - 237,920,874 (+)NCBICHM1_1
T2T-CHM13v2.01235,750,587 - 235,884,698 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal dental morphology  (IAGP)
Abnormal fingernail morphology  (IAGP)
Abnormal hair morphology  (IAGP)
Abnormal primary molar morphology  (IAGP)
Abnormal toenail morphology  (IAGP)
Abnormality of canine  (IAGP)
Abnormality of skin pigmentation  (IAGP)
Abnormality of the dentition  (IAGP)
Absent eyebrow  (IAGP)
Absent eyelashes  (IAGP)
Absent hair  (IAGP)
Absent nipple  (IAGP)
Agenesis of central incisor  (IAGP)
Agenesis of first permanent molar tooth  (IAGP)
Agenesis of mandibular premolar  (IAGP)
Agenesis of maxillary lateral incisor  (IAGP)
Agenesis of premolar  (IAGP)
Alopecia  (IAGP)
Anhidrosis  (IAGP)
Anodontia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Brittle hair  (IAGP)
Childhood onset  (IAGP)
Conical tooth  (IAGP)
Delayed eruption of permanent teeth  (IAGP)
Delayed eruption of teeth  (IAGP)
Dental malocclusion  (IAGP)
Depressed nasal bridge  (IAGP)
Depressed nasal ridge  (IAGP)
Dry skin  (IAGP)
Eclabion  (IAGP)
Ectodermal dysplasia  (IAGP)
Eczematoid dermatitis  (IAGP)
Enamel hypoplasia  (IAGP)
Everted lower lip vermilion  (IAGP)
Everted upper lip vermilion  (IAGP)
Fine hair  (IAGP)
Frontal bossing  (IAGP)
Gastrointestinal stroma tumor  (IAGP)
Heat intolerance  (IAGP)
Hypodontia  (IAGP)
Hypohidrosis  (IAGP)
Hypohidrotic ectodermal dysplasia  (IAGP)
Hypoplasia of teeth  (IAGP)
Hypoplastic nipples  (IAGP)
Impaired mastication  (IAGP)
Malignant hyperthermia  (IAGP)
Microdontia  (IAGP)
Oligodontia  (IAGP)
Orofacial cleft  (IAGP)
Parathyroid carcinoma  (IAGP)
Peg-shaped maxillary lateral incisors  (IAGP)
Periorbital hyperpigmentation  (IAGP)
Periorbital wrinkles  (IAGP)
Premature loss of primary teeth  (IAGP)
Prominent forehead  (IAGP)
Recurrent respiratory infections  (IAGP)
Rhinitis  (IAGP)
Ridged nail  (IAGP)
Short dental root  (IAGP)
Short face  (IAGP)
Slow-growing hair  (IAGP)
Sparse body hair  (IAGP)
Sparse eyebrow  (IAGP)
Sparse eyelashes  (IAGP)
Sparse hair  (IAGP)
Sparse lateral eyebrow  (IAGP)
Sparse scalp hair  (IAGP)
Taurodontia  (IAGP)
Thick vermilion border  (IAGP)
Thin skin  (IAGP)
Tooth agenesis  (IAGP)
Widely spaced teeth  (IAGP)
Xerostomia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Role of ectodysplasin signalling in middle ear and nasal pathology in rat and mouse models of hypohidrotic ectodermal dysplasia. Del-Pozo J, etal., Dis Model Mech. 2019 Apr 25;12(4). pii: 12/4/dmm037804. doi: 10.1242/dmm.037804.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. A rat model of hypohidrotic ectodermal dysplasia carries a missense mutation in the Edaradd gene. Kuramoto T, etal., BMC Genet. 2011 Oct 21;12:91. doi: 10.1186/1471-2156-12-91.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:9245989   PMID:11035039   PMID:11780064   PMID:11882293   PMID:11997580   PMID:12477932   PMID:14702039   PMID:16251197   PMID:16710414   PMID:17354266   PMID:20222921   PMID:20301291  
PMID:20979233   PMID:21626677   PMID:21873635   PMID:22924441   PMID:22984994   PMID:25416956   PMID:26440664   PMID:30022538   PMID:30809309   PMID:31515488   PMID:31796081   PMID:32188493  
PMID:32819890   PMID:34219261   PMID:34573371   PMID:35563538   PMID:35637063   PMID:35906200   PMID:37673591   PMID:37838280  


Genomics

Comparative Map Data
EDARADD
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381236,348,259 - 236,484,930 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1236,348,257 - 236,502,915 (+)EnsemblGRCh38hg38GRCh38
GRCh371236,511,559 - 236,648,230 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361234,624,303 - 234,714,631 (+)NCBINCBI36Build 36hg18NCBI36
Build 341232,883,720 - 232,974,049NCBI
Celera1209,804,771 - 209,895,082 (+)NCBICelera
Cytogenetic Map1q42.3-q43NCBI
HuRef1207,012,849 - 207,103,467 (+)NCBIHuRef
CHM1_11237,829,988 - 237,920,874 (+)NCBICHM1_1
T2T-CHM13v2.01235,750,587 - 235,884,698 (+)NCBIT2T-CHM13v2.0
Edaradd
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391312,486,090 - 12,535,413 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1312,487,513 - 12,535,319 (-)EnsemblGRCm39 Ensembl
GRCm381312,471,209 - 12,520,535 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1312,472,632 - 12,520,438 (-)EnsemblGRCm38mm10GRCm38
MGSCv371312,569,175 - 12,612,715 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361312,531,162 - 12,574,879 (-)NCBIMGSCv36mm8
Celera1312,393,096 - 12,436,757 (-)NCBICelera
Cytogenetic Map13A1NCBI
cM Map134.77NCBI
Edaradd
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81792,850,791 - 92,894,808 (-)NCBIGRCr8
mRatBN7.21785,866,629 - 85,910,612 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1785,656,905 - 85,910,447 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.01790,802,280 - 90,843,476 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1790,802,393 - 90,843,485 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01792,462,305 - 92,503,399 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41767,056,373 - 67,143,933 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1785,700,726 - 85,744,668 (+)NCBICelera
Cytogenetic Map17q12.3NCBI
Edaradd
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554923,711,549 - 3,777,528 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554923,709,819 - 3,777,506 (-)NCBIChiLan1.0ChiLan1.0
EDARADD
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2112,702,380 - 12,787,405 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1112,914,211 - 12,999,256 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01211,973,108 - 212,043,142 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11217,042,359 - 217,043,804 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1216,960,418 - 217,044,046 (+)NCBIpanpan1.1panPan2
PanPan1.1 Ensembl1216,960,418 - 217,044,046 (+)Ensemblpanpan1.1panPan2
EDARADD
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.143,608,545 - 3,659,357 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl43,610,079 - 3,669,789 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha43,654,946 - 3,715,144 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.043,629,190 - 3,689,391 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl43,629,181 - 3,690,451 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.143,641,762 - 3,701,937 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.043,758,964 - 3,819,177 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.043,979,463 - 4,039,647 (-)NCBIUU_Cfam_GSD_1.0
Edaradd
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934440,226,404 - 40,281,250 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648416,395,935 - 16,446,146 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648416,394,753 - 16,446,102 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EDARADD
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1454,925,771 - 54,990,848 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11454,924,156 - 54,992,206 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21458,899,859 - 58,965,928 (-)NCBISscrofa10.2Sscrofa10.2susScr3
EDARADD
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12573,537,185 - 73,625,338 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2573,538,944 - 73,626,038 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605575,628,044 - 75,715,344 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Edaradd
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477514,132,710 - 14,191,423 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477514,132,455 - 14,191,604 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in EDARADD
143 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_145861.4(EDARADD):c.454G>A (p.Glu152Lys) single nucleotide variant Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001729334]|Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive [RCV000004407] Chr1:236482455 [GRCh38]
Chr1:236645755 [GRCh37]
Chr1:1q43		 pathogenic|not provided
NM_145861.4(EDARADD):c.365T>G (p.Leu122Arg) single nucleotide variant Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV000055985]|Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV000004408] Chr1:236482366 [GRCh38]
Chr1:236645666 [GRCh37]
Chr1:1q43		 pathogenic|not provided
NM_145861.4(EDARADD):c.417G>A (p.Trp139Ter) single nucleotide variant Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV000549383] Chr1:236482418 [GRCh38]
Chr1:236645718 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_145861.4(EDARADD):c.402_407del (p.Thr135_Val136del) deletion Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001729373] Chr1:236482403..236482408 [GRCh38]
Chr1:236645703..236645708 [GRCh37]
Chr1:1q43		 pathogenic|not provided
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3 copy number gain See cases [RCV000050581] Chr1:223347693..248918469 [GRCh38]
Chr1:223521035..249212668 [GRCh37]
Chr1:221587658..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1 copy number loss See cases [RCV000051082] Chr1:230106271..243677283 [GRCh38]
Chr1:230242018..243840585 [GRCh37]
Chr1:228308641..241907208 [NCBI36]
Chr1:1q42.13-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:221902539-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|See cases [RCV000051875] Chr1:221902539..248918469 [GRCh38]
Chr1:222075881..249212668 [GRCh37]
Chr1:220142504..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3 copy number gain See cases [RCV000051878] Chr1:223828500..248891309 [GRCh38]
Chr1:224016202..249185508 [GRCh37]
Chr1:222082825..247152131 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3 copy number gain See cases [RCV000051880] Chr1:223887780..248891309 [GRCh38]
Chr1:224075482..249185508 [GRCh37]
Chr1:222142105..247152131 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3 copy number gain See cases [RCV000051882] Chr1:224096488..248918469 [GRCh38]
Chr1:224284190..249212668 [GRCh37]
Chr1:222350813..247179291 [NCBI36]
Chr1:1q42.11-44		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh38/hg38 1q42.3-44(chr1:236237049-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051883]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051883]|See cases [RCV000051883] Chr1:236237049..248918469 [GRCh38]
Chr1:236400349..249212668 [GRCh37]
Chr1:234466972..247179291 [NCBI36]
Chr1:1q42.3-44		 pathogenic
GRCh38/hg38 1q42.2-44(chr1:232097468-248918610)x1 copy number loss See cases [RCV000053985] Chr1:232097468..248918610 [GRCh38]
Chr1:232233214..249212809 [GRCh37]
Chr1:230299837..247179432 [NCBI36]
Chr1:1q42.2-44		 pathogenic
GRCh38/hg38 1q42.2-43(chr1:233486559-239971543)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053986]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053986]|See cases [RCV000053986] Chr1:233486559..239971543 [GRCh38]
Chr1:233622305..240134843 [GRCh37]
Chr1:231688928..238201466 [NCBI36]
Chr1:1q42.2-43		 pathogenic
GRCh38/hg38 1q42.3-43(chr1:235800332-236702192)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053987]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053987]|See cases [RCV000053987] Chr1:235800332..236702192 [GRCh38]
Chr1:235963632..236865492 [GRCh37]
Chr1:234030255..234932115 [NCBI36]
Chr1:1q42.3-43		 pathogenic
NM_145861.4(EDARADD):c.587G>A (p.Arg196His) single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001102402]|not provided [RCV000087252] Chr1:236482588 [GRCh38]
Chr1:236645888 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.299_300insAAC (p.Cys100Ter) insertion not specified [RCV000190579] Chr1:236482300..236482301 [GRCh38]
Chr1:236645600..236645601 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3 copy number gain See cases [RCV000135839] Chr1:223815147..248918469 [GRCh38]
Chr1:224002849..249212668 [GRCh37]
Chr1:222069472..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q42.3-43(chr1:236237049-236904883)x3 copy number gain See cases [RCV000136663] Chr1:236237049..236904883 [GRCh38]
Chr1:236400349..237068183 [GRCh37]
Chr1:234466972..235134806 [NCBI36]
Chr1:1q42.3-43		 uncertain significance
GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3 copy number gain See cases [RCV000136666] Chr1:229022909..248918469 [GRCh38]
Chr1:229158656..249212668 [GRCh37]
Chr1:227225279..247179291 [NCBI36]
Chr1:1q42.13-44		 pathogenic
GRCh38/hg38 1q42.3-43(chr1:235387992-237270632)x3 copy number gain See cases [RCV000136772] Chr1:235387992..237270632 [GRCh38]
Chr1:235551307..237433932 [GRCh37]
Chr1:233617930..235500555 [NCBI36]
Chr1:1q42.3-43		 pathogenic
GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3 copy number gain See cases [RCV000137769] Chr1:224022862..248918469 [GRCh38]
Chr1:224210564..249212668 [GRCh37]
Chr1:222277187..247179291 [NCBI36]
Chr1:1q42.11-44		 pathogenic
GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3 copy number gain See cases [RCV000142448] Chr1:225438480..248787200 [GRCh38]
Chr1:225626182..249060210 [GRCh37]
Chr1:223692805..247048022 [NCBI36]
Chr1:1q42.12-44		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh38/hg38 1q42.3-43(chr1:236206560-236941297)x3 copy number gain See cases [RCV000143574] Chr1:236206560..236941297 [GRCh38]
Chr1:236369860..237104597 [GRCh37]
Chr1:234436483..235171220 [NCBI36]
Chr1:1q42.3-43		 uncertain significance
NM_145861.4(EDARADD):c.115A>G (p.Asn39Asp) single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000385891]|Hypohidrotic ectodermal dysplasia [RCV001100441]|Inborn genetic diseases [RCV002520476] Chr1:236409269 [GRCh38]
Chr1:236572569 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_145861.4(EDARADD):c.*1601C>A single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000389958]|Hypohidrotic ectodermal dysplasia [RCV001097091]|not provided [RCV001597038] Chr1:236484250 [GRCh38]
Chr1:236647550 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_145861.4(EDARADD):c.600C>T (p.Asp200=) single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000398173]|Hypohidrotic ectodermal dysplasia [RCV001102403]|not provided [RCV000953992] Chr1:236482601 [GRCh38]
Chr1:236645901 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
GRCh37/hg19 1q42.3-43(chr1:236224569-237379105)x3 copy number gain See cases [RCV000207455] Chr1:236224569..237379105 [GRCh37]
Chr1:1q42.3-43		 uncertain significance
NM_145861.4(EDARADD):c.60G>A (p.Glu20=) single nucleotide variant Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV000527781]|Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000319731]|Hypohidrotic ectodermal dysplasia [RCV001100440]|not provided [RCV004710689]|not specified [RCV000289423] Chr1:236394504 [GRCh38]
Chr1:236557804 [GRCh37]
Chr1:1q42.3		 benign|likely benign
NM_145861.4(EDARADD):c.389A>G (p.Asp130Gly) single nucleotide variant not provided [RCV000520125] Chr1:236482390 [GRCh38]
Chr1:236645690 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_145861.4(EDARADD):c.196C>T (p.Arg66Ter) single nucleotide variant Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive [RCV003338495]|not provided [RCV000323922] Chr1:236427427 [GRCh38]
Chr1:236590727 [GRCh37]
Chr1:1q43		 pathogenic
NM_145861.4(EDARADD):c.571G>T (p.Val191Leu) single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000345575]|Hypohidrotic ectodermal dysplasia [RCV001102401] Chr1:236482572 [GRCh38]
Chr1:236645872 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.120+1G>A single nucleotide variant Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive [RCV000239464] Chr1:236409275 [GRCh38]
Chr1:236572575 [GRCh37]
Chr1:1q43		 pathogenic
NM_145861.4(EDARADD):c.367G>A (p.Asp123Asn) single nucleotide variant ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT [RCV000239549]|Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV003765486] Chr1:236482368 [GRCh38]
Chr1:236645668 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
GRCh37/hg19 1q42.2-44(chr1:234050864-249213059)x3 copy number gain See cases [RCV000240034] Chr1:234050864..249213059 [GRCh37]
Chr1:1q42.2-44		 pathogenic
NM_145861.4(EDARADD):c.27G>A (p.Met9Ile) single nucleotide variant Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV001519825]|Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV001660364]|Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive [RCV001660365]|Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000262285]|Hypohidrotic ectodermal dysplasia [RCV001100439]|not provided [RCV001711743]|not specified [RCV000249322] Chr1:236394471 [GRCh38]
Chr1:236557771 [GRCh37]
Chr1:1q42.3		 benign
NM_145861.4(EDARADD):c.*863C>T single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000270882]|Hypohidrotic ectodermal dysplasia [RCV001100548]|not provided [RCV004691200] Chr1:236483512 [GRCh38]
Chr1:236646812 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.161-13T>C single nucleotide variant Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV002518659]|Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000293938]|Hypohidrotic ectodermal dysplasia [RCV001100444]|not specified [RCV000244576] Chr1:236427379 [GRCh38]
Chr1:236590679 [GRCh37]
Chr1:1q43		 benign|likely benign|uncertain significance
NM_145861.4(EDARADD):c.369C>T (p.Asp123=) single nucleotide variant Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV001514564]|Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000288299]|Hypohidrotic ectodermal dysplasia [RCV001102399]|not provided [RCV001706386]|not specified [RCV000244680] Chr1:236482370 [GRCh38]
Chr1:236645670 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_145861.4(EDARADD):c.-3G>A single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000353307]|Hypohidrotic ectodermal dysplasia [RCV001100438]|not provided [RCV001683137]|not specified [RCV000252386] Chr1:236394442 [GRCh38]
Chr1:236557742 [GRCh37]
Chr1:1q42.3		 benign|likely benign
NM_145861.4(EDARADD):c.308C>T (p.Ser103Phe) single nucleotide variant Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV000534755]|Hypohidrotic ectodermal dysplasia [RCV001102398]|not provided [RCV001705378]|not specified [RCV000252874] Chr1:236482309 [GRCh38]
Chr1:236645609 [GRCh37]
Chr1:1q43		 benign|likely benign|conflicting interpretations of pathogenicity
NM_145861.4(EDARADD):c.*682G>A single nucleotide variant Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive [RCV000276600]|not provided [RCV004710772] Chr1:236483331 [GRCh38]
Chr1:236646631 [GRCh37]
Chr1:1q43		 likely benign
NM_145861.4(EDARADD):c.*1887G>A single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000272688]|Hypohidrotic ectodermal dysplasia [RCV001098849] Chr1:236484536 [GRCh38]
Chr1:236647836 [GRCh37]
Chr1:1q43		 benign|uncertain significance
NM_145861.4(EDARADD):c.*2052C>T single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000266882]|Hypohidrotic ectodermal dysplasia [RCV001100664] Chr1:236484701 [GRCh38]
Chr1:236648001 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.*1787C>T single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000268785]|Hypohidrotic ectodermal dysplasia [RCV001098845]|not provided [RCV001612926] Chr1:236484436 [GRCh38]
Chr1:236647736 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_145861.4(EDARADD):c.*1535C>T single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000397258]|Hypohidrotic ectodermal dysplasia [RCV001097088] Chr1:236484184 [GRCh38]
Chr1:236647484 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.*719C>T single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000334007]|Hypohidrotic ectodermal dysplasia [RCV001098736] Chr1:236483368 [GRCh38]
Chr1:236646668 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.*195G>T single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000398160]|Hypohidrotic ectodermal dysplasia [RCV001097000] Chr1:236482844 [GRCh38]
Chr1:236646144 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.*1562T>C single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000300675]|Hypohidrotic ectodermal dysplasia [RCV001097089]|not provided [RCV001612925] Chr1:236484211 [GRCh38]
Chr1:236647511 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_145861.4(EDARADD):c.*417G>A single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000356260]|Hypohidrotic ectodermal dysplasia [RCV001097004] Chr1:236483066 [GRCh38]
Chr1:236646366 [GRCh37]
Chr1:1q43		 benign|uncertain significance
NM_145861.4(EDARADD):c.*1438C>T single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000379160]|Hypohidrotic ectodermal dysplasia [RCV001102501] Chr1:236484087 [GRCh38]
Chr1:236647387 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_145861.4(EDARADD):c.*272G>A single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000304003]|Hypohidrotic ectodermal dysplasia [RCV001097001] Chr1:236482921 [GRCh38]
Chr1:236646221 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.*746G>T single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000381618]|Hypohidrotic ectodermal dysplasia [RCV001098737] Chr1:236483395 [GRCh38]
Chr1:236646695 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.*1985A>G single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000320698]|Hypohidrotic ectodermal dysplasia [RCV001100661] Chr1:236484634 [GRCh38]
Chr1:236647934 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.*285G>A single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000361021]|Hypohidrotic ectodermal dysplasia [RCV001097002] Chr1:236482934 [GRCh38]
Chr1:236646234 [GRCh37]
Chr1:1q43		 benign|uncertain significance
NM_145861.4(EDARADD):c.*967A>G single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000384811]|Hypohidrotic ectodermal dysplasia [RCV001100553] Chr1:236483616 [GRCh38]
Chr1:236646916 [GRCh37]
Chr1:1q43		 benign|uncertain significance
NM_145861.4(EDARADD):c.*1809C>T single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000307413]|Hypohidrotic ectodermal dysplasia [RCV001098847] Chr1:236484458 [GRCh38]
Chr1:236647758 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.*678A>C single nucleotide variant Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive [RCV000369022]|not provided [RCV004710771] Chr1:236483327 [GRCh38]
Chr1:236646627 [GRCh37]
Chr1:1q43		 likely benign
NM_145861.4(EDARADD):c.*1593G>T single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000348580]|Hypohidrotic ectodermal dysplasia [RCV001097090]|not provided [RCV001668648] Chr1:236484242 [GRCh38]
Chr1:236647542 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_145861.4(EDARADD):c.*1738A>G single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000370341]|Hypohidrotic ectodermal dysplasia [RCV001098844] Chr1:236484387 [GRCh38]
Chr1:236647687 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.*628G>A single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000330735] Chr1:236483277 [GRCh38]
Chr1:236646577 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.*1601C>G single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000313375]|Hypohidrotic ectodermal dysplasia [RCV001097092]|not provided [RCV001668649] Chr1:236484250 [GRCh38]
Chr1:236647550 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_145861.4(EDARADD):c.*971C>T single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000283309]|Hypohidrotic ectodermal dysplasia [RCV001100554] Chr1:236483620 [GRCh38]
Chr1:236646920 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.*586T>C single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000263791]|Hypohidrotic ectodermal dysplasia [RCV001098735] Chr1:236483235 [GRCh38]
Chr1:236646535 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q42.2-44(chr1:233012994-249206918)x1 copy number loss See cases [RCV002292708] Chr1:233012994..249206918 [GRCh37]
Chr1:1q42.2-44		 pathogenic
NM_145861.4(EDARADD):c.*100C>T single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000291908]|Hypohidrotic ectodermal dysplasia [RCV001096998] Chr1:236482749 [GRCh38]
Chr1:236646049 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.*351_*352del deletion Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000400334] Chr1:236482999..236483000 [GRCh38]
Chr1:236646299..236646300 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.*1871C>T single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000364479]|Hypohidrotic ectodermal dysplasia [RCV001098848] Chr1:236484520 [GRCh38]
Chr1:236647820 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.220-15C>T single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000332712]|Hypohidrotic ectodermal dysplasia [RCV001102396] Chr1:236468216 [GRCh38]
Chr1:236631516 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.*1508C>T single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000335136]|Hypohidrotic ectodermal dysplasia [RCV001097087] Chr1:236484157 [GRCh38]
Chr1:236647457 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.302C>T (p.Thr101Ile) single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000389636]|Hypohidrotic ectodermal dysplasia [RCV001102397] Chr1:236482303 [GRCh38]
Chr1:236645603 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.*2059del deletion Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000371747] Chr1:236484708 [GRCh38]
Chr1:236648008 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.*1459dup duplication Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000286993] Chr1:236484107..236484108 [GRCh38]
Chr1:236647407..236647408 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.*354G>C single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000298052]|Hypohidrotic ectodermal dysplasia [RCV001097003] Chr1:236483003 [GRCh38]
Chr1:236646303 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.*2058dup duplication Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000324071] Chr1:236484706..236484707 [GRCh38]
Chr1:236648006..236648007 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.*115A>G single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000339894]|Hypohidrotic ectodermal dysplasia [RCV001096999] Chr1:236482764 [GRCh38]
Chr1:236646064 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.*1149G>A single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000340693]|Hypohidrotic ectodermal dysplasia [RCV001102496] Chr1:236483798 [GRCh38]
Chr1:236647098 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.*921G>A single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000327972]|Hypohidrotic ectodermal dysplasia [RCV001100550] Chr1:236483570 [GRCh38]
Chr1:236646870 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.*2018C>G single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000377749]|Hypohidrotic ectodermal dysplasia [RCV001100663] Chr1:236484667 [GRCh38]
Chr1:236647967 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.595_598del (p.Val199fs) microsatellite not provided [RCV000595397] Chr1:236482591..236482594 [GRCh38]
Chr1:236645891..236645894 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44		 pathogenic
GRCh37/hg19 1q42.3-44(chr1:236515525-249224684)x3 copy number gain See cases [RCV000449458] Chr1:236515525..249224684 [GRCh37]
Chr1:1q42.3-44		 pathogenic
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 copy number gain See cases [RCV000449210] Chr1:214697099..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
GRCh37/hg19 1q42.3-43(chr1:236508351-237427945)x3 copy number gain See cases [RCV000446833] Chr1:236508351..237427945 [GRCh37]
Chr1:1q42.3-43		 uncertain significance
GRCh37/hg19 1q42.3-44(chr1:235374095-249224684)x1 copy number loss See cases [RCV000447426] Chr1:235374095..249224684 [GRCh37]
Chr1:1q42.3-44		 pathogenic
GRCh37/hg19 1q42.2-44(chr1:231670870-249213000)x3 copy number gain See cases [RCV000447654] Chr1:231670870..249213000 [GRCh37]
Chr1:1q42.2-44		 pathogenic
GRCh37/hg19 1q42.2-43(chr1:232226609-241010904)x1 copy number loss See cases [RCV000447936] Chr1:232226609..241010904 [GRCh37]
Chr1:1q42.2-43		 pathogenic
GRCh37/hg19 1q42.3-44(chr1:235797384-249224684)x1 copy number loss See cases [RCV000510546] Chr1:235797384..249224684 [GRCh37]
Chr1:1q42.3-44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q42.2-43(chr1:234605553-240932205)x1 copy number loss See cases [RCV000510599] Chr1:234605553..240932205 [GRCh37]
Chr1:1q42.2-43		 pathogenic
NM_145861.4(EDARADD):c.61+123G>A single nucleotide variant not provided [RCV001683534]|not specified [RCV000508121] Chr1:236394628 [GRCh38]
Chr1:236557928 [GRCh37]
Chr1:1q42.3		 benign
GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3 copy number gain See cases [RCV000510981] Chr1:224105294..249224684 [GRCh37]
Chr1:1q42.11-44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_145861.4(EDARADD):c.393G>A (p.Pro131=) single nucleotide variant EDARADD-related disorder [RCV003953175]|Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV000650286]|Hypohidrotic ectodermal dysplasia [RCV001102400] Chr1:236482394 [GRCh38]
Chr1:236645694 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_145861.4(EDARADD):c.509G>A (p.Arg170Gln) single nucleotide variant Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV000650285]|Inborn genetic diseases [RCV003278973]|not provided [RCV003144446] Chr1:236482510 [GRCh38]
Chr1:236645810 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.640C>T (p.His214Tyr) single nucleotide variant Inborn genetic diseases [RCV003286970] Chr1:236482641 [GRCh38]
Chr1:236645941 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3 copy number gain not provided [RCV000684700] Chr1:218252551..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3 copy number gain not provided [RCV000684707] Chr1:228529973..249181598 [GRCh37]
Chr1:1q42.13-44		 pathogenic
NM_145861.4(EDARADD):c.199A>T (p.Asn67Tyr) single nucleotide variant Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV000694162] Chr1:236427430 [GRCh38]
Chr1:236590730 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q42.2-44(chr1:232232335-249218992)x3 copy number gain not provided [RCV000749394] Chr1:232232335..249218992 [GRCh37]
Chr1:1q42.2-44		 pathogenic
GRCh37/hg19 1q43-44(chr1:236617216-244515378)x1 copy number loss not provided [RCV000749402] Chr1:236617216..244515378 [GRCh37]
Chr1:1q43-44		 pathogenic
GRCh37/hg19 1q42.3(chr1:236584445-236585111)x0 copy number loss not provided [RCV000749399] Chr1:236584445..236585111 [GRCh37]
Chr1:1q42.3		 benign
GRCh37/hg19 1q42.3-43(chr1:236593920-236668845)x3 copy number gain not provided [RCV000749400] Chr1:236593920..236668845 [GRCh37]
Chr1:1q42.3-43		 benign
GRCh37/hg19 1q42.3-43(chr1:236593920-236784571)x3 copy number gain not provided [RCV000749401] Chr1:236593920..236784571 [GRCh37]
Chr1:1q42.3-43		 benign
GRCh37/hg19 1q43(chr1:236632983-236781478)x3 copy number gain not provided [RCV000749403] Chr1:236632983..236781478 [GRCh37]
Chr1:1q43		 benign
NM_145861.4(EDARADD):c.360C>T (p.Asp120=) single nucleotide variant not provided [RCV000976187] Chr1:236482361 [GRCh38]
Chr1:236645661 [GRCh37]
Chr1:1q43		 likely benign
GRCh37/hg19 1q42.2-43(chr1:234546246-238716872) copy number loss not provided [RCV000767542] Chr1:234546246..238716872 [GRCh37]
Chr1:1q42.2-43		 likely pathogenic
GRCh37/hg19 1q42.3-43(chr1:234742890-239475761) copy number loss not provided [RCV000767541] Chr1:234742890..239475761 [GRCh37]
Chr1:1q42.3-43		 pathogenic
NM_145861.4(EDARADD):c.15G>A (p.Thr5=) single nucleotide variant not provided [RCV000896277] Chr1:236394459 [GRCh38]
Chr1:236557759 [GRCh37]
Chr1:1q42.3		 likely benign
NM_145861.4(EDARADD):c.120+10A>G single nucleotide variant not provided [RCV000960448] Chr1:236409284 [GRCh38]
Chr1:236572584 [GRCh37]
Chr1:1q43		 likely benign
NM_145861.4(EDARADD):c.488C>A (p.Pro163His) single nucleotide variant not provided [RCV000994290] Chr1:236482489 [GRCh38]
Chr1:236645789 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q42.3-43(chr1:236529072-236628696)x3 copy number gain not provided [RCV000847400] Chr1:236529072..236628696 [GRCh37]
Chr1:1q42.3-43		 uncertain significance
NM_145861.4(EDARADD):c.*757A>C single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001098738] Chr1:236483406 [GRCh38]
Chr1:236646706 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.246C>T (p.Ser82=) single nucleotide variant not provided [RCV000917982] Chr1:236468257 [GRCh38]
Chr1:236631557 [GRCh37]
Chr1:1q43		 likely benign
NM_145861.4(EDARADD):c.*1788G>A single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001098846] Chr1:236484437 [GRCh38]
Chr1:236647737 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.*1962C>T single nucleotide variant Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive [RCV001098850]|not provided [RCV004691355] Chr1:236484611 [GRCh38]
Chr1:236647911 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q43(chr1:236604023-236787822)x3 copy number gain not provided [RCV000846172] Chr1:236604023..236787822 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q43(chr1:236604210-236778133)x3 copy number gain not provided [RCV000846751] Chr1:236604210..236778133 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q42.3-43(chr1:236464139-236615475)x3 copy number gain not provided [RCV000846643] Chr1:236464139..236615475 [GRCh37]
Chr1:1q42.3-43		 uncertain significance
GRCh37/hg19 1q42.3-43(chr1:236470665-236615475)x3 copy number gain not provided [RCV000849108] Chr1:236470665..236615475 [GRCh37]
Chr1:1q42.3-43		 uncertain significance
GRCh37/hg19 1q42.3-43(chr1:236470665-236615475)x3 copy number gain not provided [RCV000849109] Chr1:236470665..236615475 [GRCh37]
Chr1:1q42.3-43		 uncertain significance
GRCh37/hg19 1q42.3(chr1:236383222-236577374)x1 copy number loss not provided [RCV000848221] Chr1:236383222..236577374 [GRCh37]
Chr1:1q42.3		 uncertain significance
GRCh37/hg19 1q42.3-44(chr1:235582580-249224684)x3 copy number gain not provided [RCV000846184] Chr1:235582580..249224684 [GRCh37]
Chr1:1q42.3-44		 pathogenic
GRCh37/hg19 1q43(chr1:236604023-236786473)x3 copy number gain not provided [RCV000847875] Chr1:236604023..236786473 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q43(chr1:236604023-236787822)x3 copy number gain not provided [RCV000848321] Chr1:236604023..236787822 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q43(chr1:236604023-236778133)x3 copy number gain not provided [RCV000849411] Chr1:236604023..236778133 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q42.3-43(chr1:236591037-236670845)x3 copy number gain not provided [RCV000847277] Chr1:236591037..236670845 [GRCh37]
Chr1:1q42.3-43		 uncertain significance
GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3 copy number gain not provided [RCV001005175] Chr1:219916966..239004378 [GRCh37]
Chr1:1q41-43		 pathogenic
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44		 pathogenic
NM_145861.4(EDARADD):c.323G>A (p.Arg108Gln) single nucleotide variant Inborn genetic diseases [RCV003249189] Chr1:236482324 [GRCh38]
Chr1:236645624 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.*12T>C single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001096997] Chr1:236482661 [GRCh38]
Chr1:236645961 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q42.13-43(chr1:228832737-240993877)x3 copy number gain not provided [RCV001005187] Chr1:228832737..240993877 [GRCh37]
Chr1:1q42.13-43		 pathogenic
NM_145861.4(EDARADD):c.469G>A (p.Glu157Lys) single nucleotide variant Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive [RCV003238157] Chr1:236482470 [GRCh38]
Chr1:236645770 [GRCh37]
Chr1:1q43		 pathogenic
NM_145861.4(EDARADD):c.439G>A (p.Gly147Arg) single nucleotide variant not provided [RCV003238975] Chr1:236482440 [GRCh38]
Chr1:236645740 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.61+118G>T single nucleotide variant not provided [RCV001690467] Chr1:236394623 [GRCh38]
Chr1:236557923 [GRCh37]
Chr1:1q42.3		 benign
NM_145861.4(EDARADD):c.160+162T>C single nucleotide variant not provided [RCV001723015] Chr1:236414461 [GRCh38]
Chr1:236577761 [GRCh37]
Chr1:1q43		 benign
NM_145861.4(EDARADD):c.120+270T>G single nucleotide variant not provided [RCV001723099] Chr1:236409544 [GRCh38]
Chr1:236572844 [GRCh37]
Chr1:1q43		 benign
NM_145861.4(EDARADD):c.62-127G>A single nucleotide variant not provided [RCV001723130] Chr1:236409089 [GRCh38]
Chr1:236572389 [GRCh37]
Chr1:1q43		 benign
NM_145861.4(EDARADD):c.160+247G>A single nucleotide variant not provided [RCV001617025] Chr1:236414546 [GRCh38]
Chr1:236577846 [GRCh37]
Chr1:1q43		 benign
NM_145861.4(EDARADD):c.62-129dup duplication not provided [RCV001653430] Chr1:236409068..236409069 [GRCh38]
Chr1:236572368..236572369 [GRCh37]
Chr1:1q43		 benign
NM_145861.4(EDARADD):c.*1072C>T single nucleotide variant Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive [RCV001102495] Chr1:236483721 [GRCh38]
Chr1:236647021 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.62-41A>G single nucleotide variant Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV001661263]|Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive [RCV001661264]|not provided [RCV001676068] Chr1:236409175 [GRCh38]
Chr1:236572475 [GRCh37]
Chr1:1q43		 benign
GRCh37/hg19 1q42.2-43(chr1:233843930-237971511)x1 copy number loss not provided [RCV001005193] Chr1:233843930..237971511 [GRCh37]
Chr1:1q42.2-43		 pathogenic
NM_145861.4(EDARADD):c.160+201G>A single nucleotide variant not provided [RCV001723051] Chr1:236414500 [GRCh38]
Chr1:236577800 [GRCh37]
Chr1:1q43		 benign
NM_145861.4(EDARADD):c.219+253T>A single nucleotide variant not provided [RCV001723059] Chr1:236427703 [GRCh38]
Chr1:236591003 [GRCh37]
Chr1:1q43		 benign
NM_145861.4(EDARADD):c.219+66T>G single nucleotide variant not provided [RCV001597916] Chr1:236427516 [GRCh38]
Chr1:236590816 [GRCh37]
Chr1:1q43		 benign
NM_145861.4(EDARADD):c.161-33G>C single nucleotide variant Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV001661265]|Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive [RCV001661266]|not provided [RCV001673227] Chr1:236427359 [GRCh38]
Chr1:236590659 [GRCh37]
Chr1:1q43		 benign
NM_145861.4(EDARADD):c.61+1244G>A single nucleotide variant not provided [RCV001721678] Chr1:236395749 [GRCh38]
Chr1:236559049 [GRCh37]
Chr1:1q42.3		 benign
NM_145861.4(EDARADD):c.161-6del deletion Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV003771865]|not provided [RCV001718265] Chr1:236427376 [GRCh38]
Chr1:236590676 [GRCh37]
Chr1:1q43		 benign
NM_145861.4(EDARADD):c.161-63C>T single nucleotide variant not provided [RCV001635664] Chr1:236427329 [GRCh38]
Chr1:236590629 [GRCh37]
Chr1:1q43		 benign
NM_145861.4(EDARADD):c.161-129C>T single nucleotide variant not provided [RCV001723123] Chr1:236427263 [GRCh38]
Chr1:236590563 [GRCh37]
Chr1:1q43		 benign
NM_145861.4(EDARADD):c.61+1091C>T single nucleotide variant not provided [RCV001596437] Chr1:236395596 [GRCh38]
Chr1:236558896 [GRCh37]
Chr1:1q42.3		 likely benign
NM_145861.4(EDARADD):c.*1250C>T single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001102498] Chr1:236483899 [GRCh38]
Chr1:236647199 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.*1613T>C single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001097093]|not provided [RCV001720274] Chr1:236484262 [GRCh38]
Chr1:236647562 [GRCh37]
Chr1:1q43		 pathogenic|benign
NM_145861.4(EDARADD):c.*1004G>A single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001100555] Chr1:236483653 [GRCh38]
Chr1:236646953 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.*765G>A single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001098739] Chr1:236483414 [GRCh38]
Chr1:236646714 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.*1303T>G single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001102500] Chr1:236483952 [GRCh38]
Chr1:236647252 [GRCh37]
Chr1:1q43		 uncertain significance
NC_000001.11:g.236394112T>G single nucleotide variant not provided [RCV001613890] Chr1:236394112 [GRCh38]
Chr1:236557412 [GRCh37]
Chr1:1q42.3		 benign
NM_145861.4(EDARADD):c.*2078dup duplication not provided [RCV001691781] Chr1:236484708..236484709 [GRCh38]
Chr1:236648008..236648009 [GRCh37]
Chr1:1q43		 benign
NM_145861.4(EDARADD):c.161-195C>G single nucleotide variant not provided [RCV001615440] Chr1:236427197 [GRCh38]
Chr1:236590497 [GRCh37]
Chr1:1q43		 benign
GRCh37/hg19 1q42.2-43(chr1:231407943-237289859)x1 copy number loss not provided [RCV001537901] Chr1:231407943..237289859 [GRCh37]
Chr1:1q42.2-43		 pathogenic
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44		 pathogenic
NM_145861.4(EDARADD):c.*2078del deletion not provided [RCV001680497] Chr1:236484709 [GRCh38]
Chr1:236648009 [GRCh37]
Chr1:1q43		 benign
NM_145861.4(EDARADD):c.*2113G>A single nucleotide variant not provided [RCV001670823] Chr1:236484762 [GRCh38]
Chr1:236648062 [GRCh37]
Chr1:1q43		 benign
NM_145861.4(EDARADD):c.392C>T (p.Pro131Leu) single nucleotide variant Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV001045968]|not provided [RCV002284457] Chr1:236482393 [GRCh38]
Chr1:236645693 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_145861.4(EDARADD):c.266-127C>T single nucleotide variant not provided [RCV001649590] Chr1:236482140 [GRCh38]
Chr1:236645440 [GRCh37]
Chr1:1q43		 benign
NM_145861.4(EDARADD):c.*1174A>G single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001102497]|not provided [RCV004714187] Chr1:236483823 [GRCh38]
Chr1:236647123 [GRCh37]
Chr1:1q43		 benign
NM_145861.4(EDARADD):c.*1262C>T single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001102499] Chr1:236483911 [GRCh38]
Chr1:236647211 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.120+7G>A single nucleotide variant Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV003117751]|Hypohidrotic ectodermal dysplasia [RCV001100442] Chr1:236409281 [GRCh38]
Chr1:236572581 [GRCh37]
Chr1:1q43		 benign
NM_145861.4(EDARADD):c.*966A>G single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001100552]|not provided [RCV004714183] Chr1:236483615 [GRCh38]
Chr1:236646915 [GRCh37]
Chr1:1q43		 benign
NM_145861.4(EDARADD):c.121-6C>G single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001100443] Chr1:236414254 [GRCh38]
Chr1:236577554 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.*1722C>T single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001097094] Chr1:236484371 [GRCh38]
Chr1:236647671 [GRCh37]
Chr1:1q43		 benign
NM_145861.4(EDARADD):c.*1012A>G single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001102494] Chr1:236483661 [GRCh38]
Chr1:236646961 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.*558C>T single nucleotide variant Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive [RCV001098734] Chr1:236483207 [GRCh38]
Chr1:236646507 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.*1723G>A single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001098843] Chr1:236484372 [GRCh38]
Chr1:236647672 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.*920C>T single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001100549] Chr1:236483569 [GRCh38]
Chr1:236646869 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.*956C>T single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001100551] Chr1:236483605 [GRCh38]
Chr1:236646905 [GRCh37]
Chr1:1q43		 benign
NM_145861.4(EDARADD):c.*2008G>A single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001100662] Chr1:236484657 [GRCh38]
Chr1:236647957 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 copy number gain See cases [RCV001194578] Chr1:210152794..249218992 [GRCh37]
Chr1:1q32.2-44		 pathogenic
GRCh37/hg19 1q42.3-43(chr1:235931559-236766584)x3 copy number gain not provided [RCV001259120] Chr1:235931559..236766584 [GRCh37]
Chr1:1q42.3-43		 uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
NM_145861.4(EDARADD):c.85G>A (p.Glu29Lys) single nucleotide variant Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive [RCV001291625] Chr1:236409239 [GRCh38]
Chr1:236572539 [GRCh37]
Chr1:1q43		 pathogenic
NM_145861.4(EDARADD):c.570C>A (p.Asp190Glu) single nucleotide variant Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive [RCV001291626] Chr1:236482571 [GRCh38]
Chr1:236645871 [GRCh37]
Chr1:1q43		 pathogenic
NM_145861.4(EDARADD):c.413A>T (p.Asn138Ile) single nucleotide variant Tooth agenesis [RCV001269383] Chr1:236482414 [GRCh38]
Chr1:236645714 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_145861.4(EDARADD):c.440G>T (p.Gly147Val) single nucleotide variant Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive [RCV001329605] Chr1:236482441 [GRCh38]
Chr1:236645741 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.568G>A (p.Asp190Asn) single nucleotide variant Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV001363643] Chr1:236482569 [GRCh38]
Chr1:236645869 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.160+169dup duplication not provided [RCV001694759] Chr1:236414462..236414463 [GRCh38]
Chr1:236577762..236577763 [GRCh37]
Chr1:1q43		 benign
NM_145861.4(EDARADD):c.160+163C>T single nucleotide variant not provided [RCV001715072] Chr1:236414462 [GRCh38]
Chr1:236577762 [GRCh37]
Chr1:1q43		 benign
NM_145861.4(EDARADD):c.266-221C>T single nucleotide variant not provided [RCV001654672] Chr1:236482046 [GRCh38]
Chr1:236645346 [GRCh37]
Chr1:1q43		 benign
NM_145861.4(EDARADD):c.62-263T>G single nucleotide variant not provided [RCV001641036] Chr1:236408953 [GRCh38]
Chr1:236572253 [GRCh37]
Chr1:1q43		 benign
NM_145861.4(EDARADD):c.121-210T>C single nucleotide variant not provided [RCV001710564] Chr1:236414050 [GRCh38]
Chr1:236577350 [GRCh37]
Chr1:1q43		 benign
NM_145861.4(EDARADD):c.161-2A>G single nucleotide variant not specified [RCV002246500] Chr1:236427390 [GRCh38]
Chr1:236590690 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_145861.4(EDARADD):c.359A>C (p.Asp120Ala) single nucleotide variant Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV001807985] Chr1:236482360 [GRCh38]
Chr1:236645660 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_145861.4(EDARADD):c.358_359delinsAT (p.Asp120Ile) indel Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV001874086] Chr1:236482359..236482360 [GRCh38]
Chr1:236645659..236645660 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.446C>T (p.Ser149Phe) single nucleotide variant Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV001949132] Chr1:236482447 [GRCh38]
Chr1:236645747 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q43(chr1:236616862-236658988) copy number loss not specified [RCV002052956] Chr1:236616862..236658988 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q42.3-43(chr1:236593263-236688044) copy number loss not specified [RCV002052945] Chr1:236593263..236688044 [GRCh37]
Chr1:1q42.3-43		 uncertain significance
GRCh37/hg19 1q42.2-43(chr1:232226609-241010904) copy number loss not specified [RCV002052912] Chr1:232226609..241010904 [GRCh37]
Chr1:1q42.2-43		 pathogenic
GRCh37/hg19 1q42.3-43(chr1:236508351-237427945) copy number gain not specified [RCV002052934] Chr1:236508351..237427945 [GRCh37]
Chr1:1q42.3-43		 uncertain significance
NC_000001.10:g.(?_236631511)_(236631596_?)dup duplication Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV002032947] Chr1:236631511..236631596 [GRCh37]
Chr1:1q43		 likely pathogenic
NC_000001.10:g.(?_234509465)_(237995947_?)dup duplication Chédiak-Higashi syndrome [RCV001997077]|not provided [RCV002012084] Chr1:234509465..237995947 [GRCh37]
Chr1:1q42.2-43		 uncertain significance
NC_000001.10:g.(?_236631511)_(236645949_?)dup duplication Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV002029366] Chr1:236631511..236645949 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.121-19C>T single nucleotide variant Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV002096958]|not provided [RCV004715589] Chr1:236414241 [GRCh38]
Chr1:236577541 [GRCh37]
Chr1:1q43		 benign
NM_145861.4(EDARADD):c.161-6dup duplication Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV002122630] Chr1:236427375..236427376 [GRCh38]
Chr1:236590675..236590676 [GRCh37]
Chr1:1q43		 benign
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 copy number gain See cases [RCV002287837] Chr1:197867914..249224684 [GRCh37]
Chr1:1q31.3-44		 pathogenic
GRCh37/hg19 1q42.2-43(chr1:232732121-243338216)x1 copy number loss not provided [RCV002474585] Chr1:232732121..243338216 [GRCh37]
Chr1:1q42.2-43		 pathogenic
GRCh37/hg19 1q42.2-43(chr1:232895447-238787061)x1 copy number loss not provided [RCV002474854] Chr1:232895447..238787061 [GRCh37]
Chr1:1q42.2-43		 uncertain significance
GRCh37/hg19 1q42.2-43(chr1:232827966-240750334)x1 copy number loss not provided [RCV002474860] Chr1:232827966..240750334 [GRCh37]
Chr1:1q42.2-43		 uncertain significance
NM_145861.4(EDARADD):c.148G>A (p.Glu50Lys) single nucleotide variant not provided [RCV002306358] Chr1:236414287 [GRCh38]
Chr1:236577587 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q42.13-43(chr1:227992928-236659905)x3 copy number gain not provided [RCV002475638] Chr1:227992928..236659905 [GRCh37]
Chr1:1q42.13-43		 likely pathogenic
GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3 copy number gain not provided [RCV002475745] Chr1:223972939..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
NM_145861.4(EDARADD):c.22C>G (p.Gln8Glu) single nucleotide variant Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV002755053] Chr1:236394466 [GRCh38]
Chr1:236557766 [GRCh37]
Chr1:1q42.3		 uncertain significance
NM_145861.4(EDARADD):c.161-17_161-15del deletion Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV002637424] Chr1:236427373..236427375 [GRCh38]
Chr1:236590673..236590675 [GRCh37]
Chr1:1q43		 likely benign
NM_145861.4(EDARADD):c.220G>A (p.Gly74Arg) single nucleotide variant Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV002636575] Chr1:236468231 [GRCh38]
Chr1:236631531 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.623G>A (p.Arg208His) single nucleotide variant Inborn genetic diseases [RCV002691734] Chr1:236482624 [GRCh38]
Chr1:236645924 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3 copy number gain not provided [RCV002509019] Chr1:224230307..243181599 [GRCh37]
Chr1:1q42.11-43		 not provided
NM_145861.4(EDARADD):c.370G>C (p.Val124Leu) single nucleotide variant Inborn genetic diseases [RCV002936207] Chr1:236482371 [GRCh38]
Chr1:236645671 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.101G>A (p.Ser34Asn) single nucleotide variant Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV003087894] Chr1:236409255 [GRCh38]
Chr1:236572555 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.147G>A (p.Thr49=) single nucleotide variant Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV003091622] Chr1:236414286 [GRCh38]
Chr1:236577586 [GRCh37]
Chr1:1q43		 likely benign
NM_145861.4(EDARADD):c.448T>A (p.Tyr150Asn) single nucleotide variant Inborn genetic diseases [RCV003203250] Chr1:236482449 [GRCh38]
Chr1:236645749 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.524C>T (p.Thr175Met) single nucleotide variant Inborn genetic diseases [RCV003190341] Chr1:236482525 [GRCh38]
Chr1:236645825 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1 copy number loss Intellectual disability, autosomal dominant 22 [RCV003327725] Chr1:235215476..247005888 [GRCh38]
Chr1:1q42.3-44		 pathogenic
GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1 copy number loss Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 [RCV003327728] Chr1:230178121..243646135 [GRCh38]
Chr1:1q42.13-44		 pathogenic
NM_145861.4(EDARADD):c.394T>G (p.Cys132Gly) single nucleotide variant Inborn genetic diseases [RCV003377036] Chr1:236482395 [GRCh38]
Chr1:236645695 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q42.13-43(chr1:230231959-238032346)x1 copy number loss not provided [RCV003484077] Chr1:230231959..238032346 [GRCh37]
Chr1:1q42.13-43		 pathogenic
GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3 copy number gain not provided [RCV003484052] Chr1:229373250..249206595 [GRCh37]
Chr1:1q42.13-44		 pathogenic
NM_145861.4(EDARADD):c.484A>G (p.Ser162Gly) single nucleotide variant Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV003796917] Chr1:236482485 [GRCh38]
Chr1:236645785 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.154C>T (p.Pro52Ser) single nucleotide variant Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV003794711] Chr1:236414293 [GRCh38]
Chr1:236577593 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.62-18T>C single nucleotide variant Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV003785001] Chr1:236409198 [GRCh38]
Chr1:236572498 [GRCh37]
Chr1:1q43		 likely benign
NC_000001.11:g.236468231_236468234del deletion Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV003794981] Chr1:236468229..236468232 [GRCh38]
Chr1:236631529..236631532 [GRCh37]
Chr1:1q43		 pathogenic
NM_145861.4(EDARADD):c.570C>T (p.Asp190=) single nucleotide variant Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV003809256] Chr1:236482571 [GRCh38]
Chr1:236645871 [GRCh37]
Chr1:1q43		 likely benign
NM_145861.4(EDARADD):c.543G>T (p.Glu181Asp) single nucleotide variant Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV003815624] Chr1:236482544 [GRCh38]
Chr1:236645844 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.548_549del (p.Leu182_Cys183insTer) deletion Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV003815625] Chr1:236482549..236482550 [GRCh38]
Chr1:236645849..236645850 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.404C>T (p.Thr135Met) single nucleotide variant Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV003803693] Chr1:236482405 [GRCh38]
Chr1:236645705 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q42.3-43(chr1:236221501-237380903)x3 copy number gain not specified [RCV003987028] Chr1:236221501..237380903 [GRCh37]
Chr1:1q42.3-43		 uncertain significance
GRCh37/hg19 1q42.2-43(chr1:233813555-240578304)x1 copy number loss not specified [RCV003987172] Chr1:233813555..240578304 [GRCh37]
Chr1:1q42.2-43		 pathogenic
NM_145861.4(EDARADD):c.80C>T (p.Pro27Leu) single nucleotide variant Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV003990783] Chr1:236409234 [GRCh38]
Chr1:236572534 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.571G>A (p.Val191Met) single nucleotide variant Inborn genetic diseases [RCV004384487] Chr1:236482572 [GRCh38]
Chr1:236645872 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q43(chr1:236643262-236649528)x1 copy number loss not provided [RCV004577488] Chr1:236643262..236649528 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.254A>T (p.Asp85Val) single nucleotide variant Inborn genetic diseases [RCV004384486] Chr1:236468265 [GRCh38]
Chr1:236631565 [GRCh37]
Chr1:1q43		 uncertain significance
NM_145861.4(EDARADD):c.104C>A (p.Thr35Asn) single nucleotide variant Inborn genetic diseases [RCV004384485] Chr1:236409258 [GRCh38]
Chr1:236572558 [GRCh37]
Chr1:1q43		 uncertain significance
NC_000001.10:g.(?_234338304)_(237995947_?)dup duplication not provided [RCV004579202] Chr1:234338304..237995947 [GRCh37]
Chr1:1q42.2-43		 uncertain significance
NC_000001.10:g.(?_235275379)_(236899040_?)del deletion Chédiak-Higashi syndrome [RCV004583900] Chr1:235275379..236899040 [GRCh37]
Chr1:1q42.3-43		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:973
Count of miRNA genes:627
Interacting mature miRNAs:711
Transcripts:ENST00000334232, ENST00000359362, ENST00000439430
Prediction methods: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
407122821GWAS771797_Hhypothyroidism QTL GWAS771797 (human)4e-09hypothyroidism1236465834236465835Human
407298021GWAS946997_Hhypothyroidism QTL GWAS946997 (human)1e-11hypothyroidism1236465834236465835Human
407184160GWAS833136_Hhypothyroidism QTL GWAS833136 (human)2e-09hypothyroidism1236465834236465835Human
407021191GWAS670167_Hbone density QTL GWAS670167 (human)5e-12bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)1236476180236476181Human
407170446GWAS819422_Hinsomnia, total blood protein measurement QTL GWAS819422 (human)1e-08insomnia, total blood protein measurementblood protein measurement (CMO:0000028)1236406546236406547Human
406949067GWAS598043_Hsphingosine 1-phosphate measurement QTL GWAS598043 (human)2e-09sphingosine 1-phosphate measurement1236475450236475451Human
407170447GWAS819423_Hinsomnia, total blood protein measurement QTL GWAS819423 (human)2e-08insomnia, total blood protein measurementblood protein measurement (CMO:0000028)1236411048236411049Human
406941006GWAS589982_Hautoimmune thyroid disease QTL GWAS589982 (human)2e-11autoimmune thyroid disease1236465834236465835Human
406959218GWAS608194_Haging QTL GWAS608194 (human)3e-08aging1236352535236352536Human
407245525GWAS894501_Hpulse pressure measurement QTL GWAS894501 (human)0.000008pulse pressure measurementpulse pressure (CMO:0000292)1236457113236457114Human
406961077GWAS610053_Haging QTL GWAS610053 (human)6e-10aging1236356202236356203Human
407170448GWAS819424_Hinsomnia, total blood protein measurement QTL GWAS819424 (human)2e-08insomnia, total blood protein measurementblood protein measurement (CMO:0000028)1236415227236415228Human
406959636GWAS608612_Haging QTL GWAS608612 (human)4e-15aging1236352535236352536Human
407170449GWAS819425_Hinsomnia, total blood protein measurement QTL GWAS819425 (human)2e-08insomnia, total blood protein measurementblood protein measurement (CMO:0000028)1236422478236422479Human
407170450GWAS819426_Hinsomnia, total blood protein measurement QTL GWAS819426 (human)2e-08insomnia, total blood protein measurementblood protein measurement (CMO:0000028)1236424606236424607Human
407170451GWAS819427_Hinsomnia, total blood protein measurement QTL GWAS819427 (human)2e-08insomnia, total blood protein measurementblood protein measurement (CMO:0000028)1236424832236424833Human
406900729GWAS549705_Hheart rate QTL GWAS549705 (human)0.000002heart rateheart rate (CMO:0000002)1236396997236396998Human
406961341GWAS610317_Haging QTL GWAS610317 (human)2e-15aging1236362147236362148Human

Markers in Region
D1S2850  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371236,630,670 - 236,630,816UniSTSGRCh37
Build 361234,697,293 - 234,697,439RGDNCBI36
Celera1209,877,753 - 209,877,899RGD
Cytogenetic Map1q42.3UniSTS
HuRef1207,085,995 - 207,086,141UniSTS
Marshfield Genetic Map1256.26RGD
Marshfield Genetic Map1256.26UniSTS
Genethon Genetic Map1260.3UniSTS
deCODE Assembly Map1246.74UniSTS
Stanford-G3 RH Map19060.0UniSTS
GeneMap99-G3 RH Map19016.0UniSTS
D1S2680  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371236,629,647 - 236,629,867UniSTSGRCh37
Build 361234,696,270 - 234,696,490RGDNCBI36
Celera1209,876,732 - 209,876,950RGD
Cytogenetic Map1q42.3UniSTS
HuRef1207,084,960 - 207,085,192UniSTS
Marshfield Genetic Map1256.26UniSTS
Marshfield Genetic Map1256.26RGD
Genethon Genetic Map1260.3UniSTS
TNG Radiation Hybrid Map1119284.0UniSTS
Whitehead-YAC Contig Map1 UniSTS
D1S2678  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371236,641,625 - 236,641,884UniSTSGRCh37
Build 361234,708,248 - 234,708,507RGDNCBI36
Celera1209,888,708 - 209,888,967RGD
Cytogenetic Map1q42.3UniSTS
HuRef1207,097,090 - 207,097,349UniSTS
Marshfield Genetic Map1256.26UniSTS
Marshfield Genetic Map1256.26RGD
Genethon Genetic Map1260.3UniSTS
deCODE Assembly Map1246.74UniSTS
RH121427  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371236,579,665 - 236,579,890UniSTSGRCh37
Build 361234,646,288 - 234,646,513RGDNCBI36
Celera1209,826,748 - 209,826,973RGD
Cytogenetic Map1q42.3UniSTS
HuRef1207,034,967 - 207,035,192UniSTS
TNG Radiation Hybrid Map1119262.0UniSTS
SHGC-150737  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371236,630,624 - 236,630,892UniSTSGRCh37
Build 361234,697,247 - 234,697,515RGDNCBI36
Celera1209,877,707 - 209,877,975RGD
Cytogenetic Map1q42.3UniSTS
HuRef1207,085,949 - 207,086,217UniSTS
TNG Radiation Hybrid Map1033043.0UniSTS
TNG Radiation Hybrid Map1119296.0UniSTS
AB072753  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371236,647,714 - 236,647,887UniSTSGRCh37
Build 361234,714,337 - 234,714,510RGDNCBI36
Celera1209,894,788 - 209,894,961RGD
HuRef1207,103,173 - 207,103,346UniSTS
D1S372  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371236,629,599 - 236,629,939UniSTSGRCh37
Build 361234,696,222 - 234,696,562RGDNCBI36
Celera1209,876,684 - 209,877,022RGD
Cytogenetic Map1q42.3UniSTS
HuRef1207,084,912 - 207,085,264UniSTS
Stanford-G3 RH Map19065.0UniSTS
D1S1680  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371236,568,940 - 236,569,338UniSTSGRCh37
Build 361234,635,563 - 234,635,961RGDNCBI36
Celera1209,816,034 - 209,816,421RGD
Cytogenetic Map1q42.3UniSTS
HuRef1207,024,111 - 207,024,495UniSTS
Whitehead-RH Map1910.4UniSTS
Whitehead-YAC Contig Map1 UniSTS
D1S3450  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371236,621,596 - 236,621,714UniSTSGRCh37
Build 361234,688,219 - 234,688,337RGDNCBI36
Celera1209,868,681 - 209,868,799RGD
Cytogenetic Map1q42.3UniSTS
HuRef1207,076,857 - 207,076,977UniSTS
TNG Radiation Hybrid Map1119288.0UniSTS
GeneMap99-GB4 RH Map1740.49UniSTS
Whitehead-RH Map1910.4UniSTS
Whitehead-YAC Contig Map1 UniSTS
99-13794  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371236,647,216 - 236,647,696UniSTSGRCh37
Build 361234,713,839 - 234,714,319RGDNCBI36
Celera1209,894,290 - 209,894,770RGD
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map1p36.2UniSTS
HuRef1207,102,675 - 207,103,155UniSTS


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
renal system
reproductive system
respiratory system
sensory system
1174 2290 2382 2103 4470 1638 2243 4 576 1745 418 2230 6468 6071 42 3268 830 1694 1555 170

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001422628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_080738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_145861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AH010677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL354693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL450309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY028913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY028914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY071862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC046928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC114557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC114560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC128082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN005919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP742956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000334232   ⟹   ENSP00000335076
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1236,394,286 - 236,484,930 (+)Ensembl
Ensembl Acc Id: ENST00000359362   ⟹   ENSP00000352320
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1236,395,413 - 236,484,930 (+)Ensembl
Ensembl Acc Id: ENST00000439430   ⟹   ENSP00000405815
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1236,348,262 - 236,482,319 (+)Ensembl
Ensembl Acc Id: ENST00000637660   ⟹   ENSP00000490347
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1236,348,257 - 236,484,837 (+)Ensembl
Ensembl Acc Id: ENST00000642595   ⟹   ENSP00000494458
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1236,395,449 - 236,502,915 (+)Ensembl
RefSeq Acc Id: NM_001422628   ⟹   NP_001409557
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381236,348,259 - 236,484,930 (+)NCBI
T2T-CHM13v2.01235,750,587 - 235,884,698 (+)NCBI
RefSeq Acc Id: NM_080738   ⟹   NP_542776
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381236,395,413 - 236,484,930 (+)NCBI
GRCh371236,557,680 - 236,648,008 (+)RGD
Build 361234,625,339 - 234,714,631 (+)NCBI Archive
Celera1209,804,771 - 209,895,082 (+)RGD
HuRef1207,012,849 - 207,103,467 (+)RGD
CHM1_11237,831,024 - 237,920,874 (+)NCBI
T2T-CHM13v2.01235,795,525 - 235,884,698 (+)NCBI
Sequence:
RefSeq Acc Id: NM_145861   ⟹   NP_665860
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381236,394,286 - 236,484,930 (+)NCBI
GRCh371236,557,680 - 236,648,008 (+)RGD
Build 361234,624,303 - 234,714,631 (+)NCBI Archive
Celera1209,804,771 - 209,895,082 (+)RGD
HuRef1207,012,849 - 207,103,467 (+)RGD
CHM1_11237,829,988 - 237,920,874 (+)NCBI
T2T-CHM13v2.01235,794,398 - 235,884,698 (+)NCBI
Sequence:
RefSeq Acc Id: NP_665860   ⟸   NM_145861
- Peptide Label: isoform A
- UniProtKB: B9ZVW5 (UniProtKB/Swiss-Prot),   B1AL54 (UniProtKB/Swiss-Prot),   A8K7B5 (UniProtKB/Swiss-Prot),   A2VCK5 (UniProtKB/Swiss-Prot),   Q5VYJ7 (UniProtKB/Swiss-Prot),   Q8WWZ3 (UniProtKB/Swiss-Prot),   A0A0K0VQ49 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_542776   ⟸   NM_080738
- Peptide Label: isoform B
- UniProtKB: A0A0K0VQ49 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000352320   ⟸   ENST00000359362
Ensembl Acc Id: ENSP00000405815   ⟸   ENST00000439430
Ensembl Acc Id: ENSP00000335076   ⟸   ENST00000334232
Ensembl Acc Id: ENSP00000490347   ⟸   ENST00000637660
Ensembl Acc Id: ENSP00000494458   ⟸   ENST00000642595
RefSeq Acc Id: NP_001409557   ⟸   NM_001422628
- Peptide Label: isoform C
- UniProtKB: A0A1B0GV26 (UniProtKB/TrEMBL)
Protein Domains
Death   Enolase C-terminal TIM barrel   Enolase N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8WWZ3-F1-model_v2 AlphaFold Q8WWZ3 1-215 view protein structure

Promoters
RGD ID:6785090
Promoter ID:HG_KWN:7967
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000096368
Position:
Human AssemblyChrPosition (strand)Source
Build 361234,624,021 - 234,624,521 (+)MPROMDB
RGD ID:6785091
Promoter ID:HG_KWN:7968
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000096369
Position:
Human AssemblyChrPosition (strand)Source
Build 361234,625,071 - 234,625,571 (+)MPROMDB
RGD ID:6859370
Promoter ID:EPDNEW_H2850
Type:initiation region
Name:EDARADD_3
Description:EDAR associated death domain
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2851  EPDNEW_H2852  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381236,348,259 - 236,348,319EPDNEW
RGD ID:6859372
Promoter ID:EPDNEW_H2851
Type:initiation region
Name:EDARADD_2
Description:EDAR associated death domain
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2850  EPDNEW_H2852  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381236,394,286 - 236,394,346EPDNEW
RGD ID:6859374
Promoter ID:EPDNEW_H2852
Type:initiation region
Name:EDARADD_1
Description:EDAR associated death domain
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2850  EPDNEW_H2851  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381236,395,441 - 236,395,501EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14341 AgrOrtholog
COSMIC EDARADD COSMIC
Ensembl Genes ENSG00000186197 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000334232 ENTREZGENE
  ENST00000334232.9 UniProtKB/Swiss-Prot
  ENST00000359362 ENTREZGENE
  ENST00000359362.6 UniProtKB/Swiss-Prot
  ENST00000439430.5 UniProtKB/TrEMBL
  ENST00000637660 ENTREZGENE
  ENST00000637660.1 UniProtKB/TrEMBL
  ENST00000642595.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.533.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.20.20.120 UniProtKB/TrEMBL
  3.30.390.10 UniProtKB/TrEMBL
GTEx ENSG00000186197 GTEx
HGNC ID HGNC:14341 ENTREZGENE
Human Proteome Map EDARADD Human Proteome Map
InterPro DEATH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Death_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EDARADD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Enolase UniProtKB/TrEMBL
  Enolase-like_C_sf UniProtKB/TrEMBL
  Enolase-like_N UniProtKB/TrEMBL
  Enolase_C UniProtKB/TrEMBL
  Enolase_N UniProtKB/TrEMBL
KEGG Report hsa:128178 UniProtKB/Swiss-Prot
NCBI Gene 128178 ENTREZGENE
OMIM 606603 OMIM
PANTHER 2-PHOSPHO-D-GLYCERATE HYDRO-LYASE UniProtKB/TrEMBL
  ECTODYSPLASIN-A RECEPTOR-ASSOCIATED ADAPTER PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11902 UniProtKB/TrEMBL
  PTHR28469 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Death UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Enolase_C UniProtKB/TrEMBL
  Enolase_N UniProtKB/TrEMBL
PharmGKB PA27603 PharmGKB
PIRSF Enolase UniProtKB/TrEMBL
PRINTS ENOLASE UniProtKB/TrEMBL
SMART Enolase_C UniProtKB/TrEMBL
  Enolase_N UniProtKB/TrEMBL
Superfamily-SCOP SSF47986 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF51604 UniProtKB/TrEMBL
  SSF54826 UniProtKB/TrEMBL
UniProt A0A0K0VQ49 ENTREZGENE, UniProtKB/TrEMBL
  A0A1B0GV26 ENTREZGENE, UniProtKB/TrEMBL
  A0A2R8Y5E0_HUMAN UniProtKB/TrEMBL
  A2VCK5 ENTREZGENE
  A8K7B5 ENTREZGENE
  B1AL54 ENTREZGENE
  B1AL55_HUMAN UniProtKB/TrEMBL
  B9ZVW5 ENTREZGENE
  EDAD_HUMAN UniProtKB/Swiss-Prot
  G8FL38_HUMAN UniProtKB/TrEMBL
  L0R849_HUMAN UniProtKB/TrEMBL
  Q5VYJ7 ENTREZGENE
  Q8WWZ3 ENTREZGENE
UniProt Secondary A0A024R3U0 UniProtKB/TrEMBL
  A2VCK5 UniProtKB/Swiss-Prot
  A8K7B5 UniProtKB/Swiss-Prot
  B1AL54 UniProtKB/Swiss-Prot
  B9ZVW5 UniProtKB/Swiss-Prot
  Q5VYJ7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2023-01-23 EDARADD  EDAR associated via death domain  EDARADD  EDAR associated death domain  Symbol and/or name change 19259463 PROVISIONAL
2016-06-21 EDARADD  EDAR associated death domain  EDARADD  EDAR-associated death domain  Symbol and/or name change 5135510 APPROVED