ATOH7 (atonal bHLH transcription factor 7) - Rat Genome Database

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Gene: ATOH7 (atonal bHLH transcription factor 7) Homo sapiens
Analyze
Symbol: ATOH7
Name: atonal bHLH transcription factor 7
RGD ID: 1312698
HGNC Page HGNC:13907
Description: Enables transcription cis-regulatory region binding activity. Involved in positive regulation of transcription by RNA polymerase II. Acts upstream of or within neural retina development and optic nerve development. Located in cytosol and nucleoplasm. Implicated in persistent hyperplastic primary vitreous.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: atonal homolog 7; atonal homolog bHLH transcription factor 7; bHLHa13; class A basic helix-loop-helix protein 13; hATH5; helix-loop-helix protein hATH-5; Math5; NCRNA; PHPVAR; RNANC; transcription factor ATOH7
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Black 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
GRCh381068,230,595 - 68,232,113 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1068,230,595 - 68,232,113 (-)Ensemblhg38GRCh38
GRCh371069,990,352 - 69,991,870 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361069,660,387 - 69,661,861 (-)NCBIBuild 36Build 36hg18NCBI36
Build 341069,660,389 - 69,661,861NCBI
Celera1063,264,910 - 63,266,384 (-)NCBICelera
Cytogenetic Map10q21.3NCBI
HuRef1063,990,057 - 63,991,575 (-)NCBIHuRef
CHM1_11070,272,108 - 70,273,626 (-)NCBICHM1_1
T2T-CHM13v2.01069,099,395 - 69,100,913 (-)NCBIT2T-CHM13v2.0
JBrowse:




Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
axon  (IEA,ISS)
centriole  (IDA)
chromatin  (ISA)
cytosol  (IDA)
nucleoplasm  (IDA)
nucleus  (IBA,IDA,IEA)
perikaryon  (IEA,ISS)
sperm midpiece  (IDA)

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:10817658   PMID:11889557   PMID:12477932   PMID:14516699   PMID:16368877   PMID:19274049   PMID:20395239   PMID:20548946   PMID:21307088   PMID:21427129   PMID:21441919   PMID:21697133  
PMID:21873635   PMID:22019371   PMID:22068589   PMID:22222511   PMID:22645276   PMID:23568457   PMID:23802135   PMID:24457358   PMID:25241763   PMID:25489222   PMID:25798827   PMID:26497787  
PMID:26933893   PMID:27617586   PMID:28061514   PMID:28192794   PMID:28473536   PMID:29717171   PMID:29792847   PMID:31696227   PMID:32296183   PMID:35162975   PMID:35389970   PMID:37089697  


Genomics

Comparative Map Data
ATOH7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381068,230,595 - 68,232,113 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1068,230,595 - 68,232,113 (-)Ensemblhg38GRCh38
GRCh371069,990,352 - 69,991,870 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361069,660,387 - 69,661,861 (-)NCBIBuild 36Build 36hg18NCBI36
Build 341069,660,389 - 69,661,861NCBI
Celera1063,264,910 - 63,266,384 (-)NCBICelera
Cytogenetic Map10q21.3NCBI
HuRef1063,990,057 - 63,991,575 (-)NCBIHuRef
CHM1_11070,272,108 - 70,273,626 (-)NCBICHM1_1
T2T-CHM13v2.01069,099,395 - 69,100,913 (-)NCBIT2T-CHM13v2.0
Atoh7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391062,935,564 - 62,937,059 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1062,935,430 - 62,937,058 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm381063,099,785 - 63,101,280 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1063,099,651 - 63,101,279 (+)Ensemblmm10GRCm38
MGSCv371062,562,904 - 62,563,353 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv361062,495,513 - 62,495,962 (+)NCBIMGSCv36mm8
Celera1064,200,808 - 64,201,424 (+)NCBICelera
Cytogenetic Map10B4NCBI
cM Map1032.54NCBI
Atoh7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82025,529,528 - 25,529,977 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl2025,528,906 - 25,530,368 (-)EnsemblGRCr8
mRatBN7.22025,530,826 - 25,531,275 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2025,530,826 - 25,531,275 (-)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx2026,223,655 - 26,224,104 (-)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02025,576,679 - 25,577,128 (-)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02026,163,308 - 26,163,757 (-)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.02027,082,961 - 27,083,410 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2027,082,961 - 27,083,410 (-)Ensemblrn6Rnor6.0
Rnor_5.02028,923,499 - 28,923,948 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.42025,448,296 - 25,448,745 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera2026,826,801 - 26,827,250 (-)NCBICelera
RGSC_v3.12025,462,095 - 25,462,545 (+)NCBI
Cytogenetic Map20p11NCBI
Atoh7
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495542520,559,466 - 20,560,275 (-)NCBIChiLan1.0ChiLan1.0
ATOH7
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2880,393,599 - 80,395,396 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11080,398,922 - 80,400,717 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01064,714,546 - 64,716,341 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11067,025,107 - 67,026,148 (-)NCBIPanPan1.1PanPan1.1panPan2
ATOH7
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1419,466,476 - 19,479,279 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl419,478,694 - 19,479,152 (-)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha419,597,398 - 19,611,478 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.0419,734,560 - 19,748,678 (-)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl419,748,220 - 19,748,678 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1419,617,322 - 19,631,402 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0419,839,420 - 19,853,518 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0420,182,700 - 20,196,804 (-)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Atoh7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721361,545,616 - 61,546,620 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493652110,038,765 - 10,039,223 (+)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_00493652110,038,345 - 10,039,345 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ATOH7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1471,400,980 - 71,401,447 (-)EnsemblsusScr11Sscrofa11.1
Sscrofa11.11471,398,939 - 71,402,479 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21477,410,544 - 77,412,605 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ATOH7
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1963,155,182 - 63,158,935 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl963,157,638 - 63,158,096 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366604823,925,365 - 23,927,147 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Atoh7
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247542,605,173 - 2,650,354 (-)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_0046247542,606,689 - 2,610,231 (-)NCBIHetGla 1.0HetGla 1.0hetGla2
Atoh7
(Rattus rattus - black rat)
Black Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rrattus_CSIRO_v11823,588,500 - 23,589,460 (-)NCBIRrattus_CSIRO_v1

Variants

.
Variants in ATOH7
135 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_000010.11:g.68247368_68253890del deletion Persistent hyperplastic primary vitreous, autosomal recessive [RCV000023792] Chr10:68247363..68253885 [GRCh38]
Chr10:70007120..70013642 [GRCh37]
Chr10:10q21.3		 pathogenic
GRCh38/hg38 10q21.2-22.2(chr10:62229688-74468143)x1 copy number loss See cases [RCV000052530] Chr10:62229688..74468143 [GRCh38]
Chr10:63989447..76227901 [GRCh37]
Chr10:63659453..75897907 [NCBI36]
Chr10:10q21.2-22.2		 pathogenic
GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1 copy number loss See cases [RCV000052511] Chr10:58436466..74415216 [GRCh38]
Chr10:60196226..76174974 [GRCh37]
Chr10:59866232..75844980 [NCBI36]
Chr10:10q21.1-22.2		 pathogenic
NM_145178.4(ATOH7):c.146A>T (p.Glu49Val) single nucleotide variant Persistent hyperplastic primary vitreous, autosomal recessive [RCV000133577] Chr10:68231532 [GRCh38]
Chr10:69991289 [GRCh37]
Chr10:10q21.3		 pathogenic
NM_145178.4(ATOH7):c.53del (p.Pro18fs) deletion Persistent hyperplastic primary vitreous, autosomal recessive [RCV000133578]|not provided [RCV001364298] Chr10:68231625 [GRCh38]
Chr10:69991382 [GRCh37]
Chr10:10q21.3		 pathogenic|uncertain significance
NM_145178.4(ATOH7):c.136A>C (p.Asn46His) single nucleotide variant Persistent hyperplastic primary vitreous, autosomal recessive [RCV000133579] Chr10:68231542 [GRCh38]
Chr10:69991299 [GRCh37]
Chr10:10q21.3		 pathogenic
GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3 copy number gain See cases [RCV000134848] Chr10:42685306..73715908 [GRCh38]
Chr10:43180754..75475666 [GRCh37]
Chr10:42500760..75145672 [NCBI36]
Chr10:10q11.21-22.2		 pathogenic
GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3 copy number gain See cases [RCV000135438] Chr10:67196567..79422057 [GRCh38]
Chr10:68956325..81181813 [GRCh37]
Chr10:68626331..80851819 [NCBI36]
Chr10:10q21.3-22.3		 pathogenic
GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1 copy number loss See cases [RCV000136658] Chr10:63402579..75296099 [GRCh38]
Chr10:65162339..77055857 [GRCh37]
Chr10:64832345..76725863 [NCBI36]
Chr10:10q21.3-22.2		 pathogenic|likely benign
GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3 copy number gain See cases [RCV000138007] Chr10:50729367..87147204 [GRCh38]
Chr10:52489127..88906961 [GRCh37]
Chr10:52159133..88896941 [NCBI36]
Chr10:10q11.23-23.2		 pathogenic
GRCh38/hg38 10q21.3(chr10:68187812-68333410)x3 copy number gain See cases [RCV000140915] Chr10:68187812..68333410 [GRCh38]
Chr10:69947569..70093167 [GRCh37]
Chr10:69617575..69763173 [NCBI36]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.199G>C (p.Val67Leu) single nucleotide variant not provided [RCV001367595] Chr10:68231479 [GRCh38]
Chr10:69991236 [GRCh37]
Chr10:10q21.3		 uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q21.3-22.1(chr10:68394411-70673475)x1 copy number loss not provided [RCV000513331] Chr10:68394411..70673475 [GRCh37]
Chr10:10q21.3-22.1		 likely pathogenic
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3		 drug response
GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3 copy number gain not provided [RCV000683289] Chr10:69040366..93194993 [GRCh37]
Chr10:10q21.3-23.32		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_145178.4(ATOH7):c.240G>C (p.Glu80Asp) single nucleotide variant not provided [RCV001052059] Chr10:68231438 [GRCh38]
Chr10:69991195 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.184C>A (p.Arg62Ser) single nucleotide variant not provided [RCV001052051]|not specified [RCV004031623] Chr10:68231494 [GRCh38]
Chr10:69991251 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.29C>G (p.Pro10Arg) single nucleotide variant not provided [RCV001247425] Chr10:68231649 [GRCh38]
Chr10:69991406 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.100C>T (p.Arg34Trp) single nucleotide variant not provided [RCV001202807] Chr10:68231578 [GRCh38]
Chr10:69991335 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.5A>T (p.Lys2Met) single nucleotide variant not provided [RCV001220516] Chr10:68231673 [GRCh38]
Chr10:69991430 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.64_81del (p.Gly22_Gly27del) deletion not provided [RCV001222591] Chr10:68231597..68231614 [GRCh38]
Chr10:69991354..69991371 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.43G>T (p.Val15Phe) single nucleotide variant not provided [RCV001225846] Chr10:68231635 [GRCh38]
Chr10:69991392 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.124C>G (p.Arg42Gly) single nucleotide variant not provided [RCV001237176] Chr10:68231554 [GRCh38]
Chr10:69991311 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.144_145dup (p.Glu49fs) microsatellite not provided [RCV001211205] Chr10:68231532..68231533 [GRCh38]
Chr10:69991289..69991290 [GRCh37]
Chr10:10q21.3		 pathogenic|uncertain significance
NM_145178.4(ATOH7):c.355G>A (p.Asp119Asn) single nucleotide variant not provided [RCV001202076] Chr10:68231323 [GRCh38]
Chr10:69991080 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.308G>C (p.Gly103Ala) single nucleotide variant not provided [RCV001232828] Chr10:68231370 [GRCh38]
Chr10:69991127 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.404T>C (p.Leu135Pro) single nucleotide variant not provided [RCV001204524] Chr10:68231274 [GRCh38]
Chr10:69991031 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.216G>C (p.Gln72His) single nucleotide variant not specified [RCV004316772] Chr10:68231462 [GRCh38]
Chr10:69991219 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.175G>A (p.Ala59Thr) single nucleotide variant Foveal hypoplasia [RCV001003479] Chr10:68231503 [GRCh38]
Chr10:69991260 [GRCh37]
Chr10:10q21.3		 pathogenic
NM_145178.4(ATOH7):c.-185A>G single nucleotide variant not provided [RCV001662894] Chr10:68231862 [GRCh38]
Chr10:69991619 [GRCh37]
Chr10:10q21.3		 benign
NM_145178.4(ATOH7):c.-419T>C single nucleotide variant not provided [RCV001635868] Chr10:68232096 [GRCh38]
Chr10:69991853 [GRCh37]
Chr10:10q21.3		 benign
NM_145178.4(ATOH7):c.-315A>C single nucleotide variant not provided [RCV001670449] Chr10:68231992 [GRCh38]
Chr10:69991749 [GRCh37]
Chr10:10q21.3		 benign
NM_145178.4(ATOH7):c.275T>C (p.Leu92Pro) single nucleotide variant not provided [RCV001226701] Chr10:68231403 [GRCh38]
Chr10:69991160 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.67_90dup (p.Thr23_Ala30dup) duplication not provided [RCV001227809] Chr10:68231587..68231588 [GRCh38]
Chr10:69991344..69991345 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.64_81dup (p.Gly22_Gly27dup) duplication not provided [RCV001055441] Chr10:68231596..68231597 [GRCh38]
Chr10:69991353..69991354 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.41G>A (p.Arg14His) single nucleotide variant not provided [RCV001244131] Chr10:68231637 [GRCh38]
Chr10:69991394 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.154C>G (p.Arg52Gly) single nucleotide variant Persistent hyperplastic primary vitreous, autosomal recessive [RCV003232884] Chr10:68231524 [GRCh38]
Chr10:69991281 [GRCh37]
Chr10:10q21.3		 likely pathogenic
NM_145178.4(ATOH7):c.176C>T (p.Ala59Val) single nucleotide variant Foveal hypoplasia [RCV001003480]|not provided [RCV001246055] Chr10:68231502 [GRCh38]
Chr10:69991259 [GRCh37]
Chr10:10q21.3		 pathogenic|uncertain significance
GRCh37/hg19 10q21.3(chr10:69066516-70079295)x3 copy number gain not provided [RCV001006334] Chr10:69066516..70079295 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.-234C>T single nucleotide variant not provided [RCV001658841] Chr10:68231911 [GRCh38]
Chr10:69991668 [GRCh37]
Chr10:10q21.3		 benign
NM_145178.4(ATOH7):c.173C>T (p.Thr58Ile) single nucleotide variant not provided [RCV001235548] Chr10:68231505 [GRCh38]
Chr10:69991262 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.166C>T (p.Leu56Phe) single nucleotide variant not provided [RCV001234514] Chr10:68231512 [GRCh38]
Chr10:69991269 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.324G>A (p.Trp108Ter) single nucleotide variant not provided [RCV001069817] Chr10:68231354 [GRCh38]
Chr10:69991111 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.131C>A (p.Ala44Glu) single nucleotide variant not provided [RCV001319997]|not specified [RCV004034991] Chr10:68231547 [GRCh38]
Chr10:69991304 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.161A>C (p.Gln54Pro) single nucleotide variant ATOH7-related condition [RCV004758789]|not provided [RCV001320042]|not specified [RCV004034994] Chr10:68231517 [GRCh38]
Chr10:69991274 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.356A>G (p.Asp119Gly) single nucleotide variant not provided [RCV001325728]|not specified [RCV004035177] Chr10:68231322 [GRCh38]
Chr10:69991079 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.270G>A (p.Met90Ile) single nucleotide variant not provided [RCV001314353] Chr10:68231408 [GRCh38]
Chr10:69991165 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.206A>G (p.Gln69Arg) single nucleotide variant not provided [RCV001369138] Chr10:68231472 [GRCh38]
Chr10:69991229 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.144C>T (p.Arg48=) single nucleotide variant ATOH7-related condition [RCV004758794]|not provided [RCV001396693] Chr10:68231534 [GRCh38]
Chr10:69991291 [GRCh37]
Chr10:10q21.3		 likely benign
NM_145178.4(ATOH7):c.272C>G (p.Ala91Gly) single nucleotide variant not provided [RCV001326118] Chr10:68231406 [GRCh38]
Chr10:69991163 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.268A>C (p.Met90Leu) single nucleotide variant not provided [RCV001364843] Chr10:68231410 [GRCh38]
Chr10:69991167 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.203C>G (p.Pro68Arg) single nucleotide variant not provided [RCV001322876] Chr10:68231475 [GRCh38]
Chr10:69991232 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.137A>G (p.Asn46Ser) single nucleotide variant not provided [RCV001325612]|not specified [RCV005278823] Chr10:68231541 [GRCh38]
Chr10:69991298 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.4A>G (p.Lys2Glu) single nucleotide variant not provided [RCV001346064]|not specified [RCV004867724] Chr10:68231674 [GRCh38]
Chr10:69991431 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.83C>G (p.Thr28Arg) single nucleotide variant not provided [RCV001296404] Chr10:68231595 [GRCh38]
Chr10:69991352 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.232_237del (p.Lys78_Tyr79del) deletion not provided [RCV001372695] Chr10:68231441..68231446 [GRCh38]
Chr10:69991198..69991203 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.170A>G (p.Asn57Ser) single nucleotide variant not provided [RCV001295131]|not specified [RCV004867714] Chr10:68231508 [GRCh38]
Chr10:69991265 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.121_144del (p.Arg41_Arg48del) deletion not provided [RCV001337196] Chr10:68231534..68231557 [GRCh38]
Chr10:69991291..69991314 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.8C>T (p.Ser3Phe) single nucleotide variant not provided [RCV001360960]|not specified [RCV004036785] Chr10:68231670 [GRCh38]
Chr10:69991427 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.48A>G (p.Ala16=) single nucleotide variant not provided [RCV001396479] Chr10:68231630 [GRCh38]
Chr10:69991387 [GRCh37]
Chr10:10q21.3		 likely benign
NM_145178.4(ATOH7):c.189A>G (p.Leu63=) single nucleotide variant not provided [RCV001486960] Chr10:68231489 [GRCh38]
Chr10:69991246 [GRCh37]
Chr10:10q21.3		 likely benign
NM_145178.4(ATOH7):c.27G>T (p.Pro9=) single nucleotide variant not provided [RCV001454866] Chr10:68231651 [GRCh38]
Chr10:69991408 [GRCh37]
Chr10:10q21.3		 likely benign
NM_145178.4(ATOH7):c.204C>T (p.Pro68=) single nucleotide variant not provided [RCV001519228] Chr10:68231474 [GRCh38]
Chr10:69991231 [GRCh37]
Chr10:10q21.3		 benign
NM_145178.4(ATOH7):c.99G>T (p.Gly33=) single nucleotide variant not provided [RCV001428107] Chr10:68231579 [GRCh38]
Chr10:69991336 [GRCh37]
Chr10:10q21.3		 likely benign
NM_145178.4(ATOH7):c.453C>T (p.Ala151=) single nucleotide variant not provided [RCV001400429] Chr10:68231225 [GRCh38]
Chr10:69990982 [GRCh37]
Chr10:10q21.3		 likely benign
NM_145178.4(ATOH7):c.297C>T (p.Ala99=) single nucleotide variant not provided [RCV001457539] Chr10:68231381 [GRCh38]
Chr10:69991138 [GRCh37]
Chr10:10q21.3		 likely benign
NM_145178.4(ATOH7):c.336C>T (p.His112=) single nucleotide variant not provided [RCV001516659] Chr10:68231342 [GRCh38]
Chr10:69991099 [GRCh37]
Chr10:10q21.3		 benign
NM_145178.4(ATOH7):c.193A>G (p.Arg65Gly) single nucleotide variant not provided [RCV001520572] Chr10:68231485 [GRCh38]
Chr10:69991242 [GRCh37]
Chr10:10q21.3		 benign
NM_145178.4(ATOH7):c.375G>C (p.Pro125=) single nucleotide variant not provided [RCV001454015] Chr10:68231303 [GRCh38]
Chr10:69991060 [GRCh37]
Chr10:10q21.3		 likely benign
NM_145178.4(ATOH7):c.171C>T (p.Asn57=) single nucleotide variant not provided [RCV001471270] Chr10:68231507 [GRCh38]
Chr10:69991264 [GRCh37]
Chr10:10q21.3		 likely benign
NM_145178.4(ATOH7):c.396G>A (p.Glu132=) single nucleotide variant not provided [RCV001406641] Chr10:68231282 [GRCh38]
Chr10:69991039 [GRCh37]
Chr10:10q21.3		 likely benign
NM_145178.4(ATOH7):c.69C>T (p.Thr23=) single nucleotide variant not provided [RCV001500802] Chr10:68231609 [GRCh38]
Chr10:69991366 [GRCh37]
Chr10:10q21.3		 likely benign
NM_145178.4(ATOH7):c.88G>A (p.Ala30Thr) single nucleotide variant not provided [RCV001984189] Chr10:68231590 [GRCh38]
Chr10:69991347 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.130G>C (p.Ala44Pro) single nucleotide variant not provided [RCV002008849] Chr10:68231548 [GRCh38]
Chr10:69991305 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.211G>C (p.Gly71Arg) single nucleotide variant not provided [RCV002041311] Chr10:68231467 [GRCh38]
Chr10:69991224 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.180C>A (p.Phe60Leu) single nucleotide variant not provided [RCV001966024] Chr10:68231498 [GRCh38]
Chr10:69991255 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.455C>T (p.Thr152Ile) single nucleotide variant not provided [RCV001965592]|not specified [RCV004681359] Chr10:68231223 [GRCh38]
Chr10:69990980 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.347T>G (p.Phe116Cys) single nucleotide variant not provided [RCV001891476] Chr10:68231331 [GRCh38]
Chr10:69991088 [GRCh37]
Chr10:10q21.3		 uncertain significance
GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714) copy number loss not specified [RCV002052875] Chr10:68735254..78885714 [GRCh37]
Chr10:10q21.3-22.3		 pathogenic
NM_145178.4(ATOH7):c.22G>A (p.Gly8Ser) single nucleotide variant not provided [RCV002040492] Chr10:68231656 [GRCh38]
Chr10:69991413 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.336C>G (p.His112Gln) single nucleotide variant not provided [RCV001887228] Chr10:68231342 [GRCh38]
Chr10:69991099 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.376G>C (p.Gly126Arg) single nucleotide variant not provided [RCV002015913] Chr10:68231302 [GRCh38]
Chr10:69991059 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.245T>A (p.Leu82Gln) single nucleotide variant not provided [RCV002038562] Chr10:68231433 [GRCh38]
Chr10:69991190 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.436G>A (p.Glu146Lys) single nucleotide variant not provided [RCV001990402] Chr10:68231242 [GRCh38]
Chr10:69990999 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.58G>A (p.Ala20Thr) single nucleotide variant not provided [RCV002015512]|not specified [RCV005288687] Chr10:68231620 [GRCh38]
Chr10:69991377 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.26del (p.Pro9fs) deletion not provided [RCV001989779] Chr10:68231652 [GRCh38]
Chr10:69991409 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.251T>A (p.Met84Lys) single nucleotide variant not provided [RCV001972987] Chr10:68231427 [GRCh38]
Chr10:69991184 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.172A>G (p.Thr58Ala) single nucleotide variant not provided [RCV001974295] Chr10:68231506 [GRCh38]
Chr10:69991263 [GRCh37]
Chr10:10q21.3		 uncertain significance
NC_000010.10:g.(?_67680088)_(71332799_?)del deletion not provided [RCV001956019] Chr10:67680088..71332799 [GRCh37]
Chr10:10q21.3-22.1		 pathogenic|uncertain significance
NM_145178.4(ATOH7):c.22G>T (p.Gly8Cys) single nucleotide variant not provided [RCV002047514] Chr10:68231656 [GRCh38]
Chr10:69991413 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.70G>T (p.Glu24Ter) single nucleotide variant not provided [RCV002047844] Chr10:68231608 [GRCh38]
Chr10:69991365 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.53C>A (p.Pro18Gln) single nucleotide variant not provided [RCV001930807] Chr10:68231625 [GRCh38]
Chr10:69991382 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.389C>A (p.Pro130Gln) single nucleotide variant not provided [RCV001976487]|not specified [RCV004681371] Chr10:68231289 [GRCh38]
Chr10:69991046 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.250A>G (p.Met84Val) single nucleotide variant not provided [RCV001973904] Chr10:68231428 [GRCh38]
Chr10:69991185 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.124C>A (p.Arg42Ser) single nucleotide variant not provided [RCV001881315] Chr10:68231554 [GRCh38]
Chr10:69991311 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.410G>A (p.Ser137Asn) single nucleotide variant not provided [RCV001960926] Chr10:68231268 [GRCh38]
Chr10:69991025 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.162G>C (p.Gln54His) single nucleotide variant not provided [RCV001904727] Chr10:68231516 [GRCh38]
Chr10:69991273 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.26C>T (p.Pro9Leu) single nucleotide variant not provided [RCV001903084] Chr10:68231652 [GRCh38]
Chr10:69991409 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.269T>C (p.Met90Thr) single nucleotide variant not provided [RCV001899735] Chr10:68231409 [GRCh38]
Chr10:69991166 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.280C>T (p.Arg94Trp) single nucleotide variant not provided [RCV001925925] Chr10:68231398 [GRCh38]
Chr10:69991155 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.329G>A (p.Gly110Asp) single nucleotide variant not provided [RCV002026688] Chr10:68231349 [GRCh38]
Chr10:69991106 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.362del (p.Tyr121fs) deletion not provided [RCV002051479] Chr10:68231316 [GRCh38]
Chr10:69991073 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.446A>G (p.Gln149Arg) single nucleotide variant not provided [RCV001875412] Chr10:68231232 [GRCh38]
Chr10:69990989 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.289G>C (p.Ala97Pro) single nucleotide variant not provided [RCV001878788] Chr10:68231389 [GRCh38]
Chr10:69991146 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.435C>G (p.Pro145=) single nucleotide variant not provided [RCV002153704] Chr10:68231243 [GRCh38]
Chr10:69991000 [GRCh37]
Chr10:10q21.3		 likely benign
NM_145178.4(ATOH7):c.48A>T (p.Ala16=) single nucleotide variant not provided [RCV002157683] Chr10:68231630 [GRCh38]
Chr10:69991387 [GRCh37]
Chr10:10q21.3		 likely benign
NM_145178.4(ATOH7):c.234G>A (p.Lys78=) single nucleotide variant not provided [RCV002138329] Chr10:68231444 [GRCh38]
Chr10:69991201 [GRCh37]
Chr10:10q21.3		 likely benign
NM_145178.4(ATOH7):c.78G>A (p.Ala26=) single nucleotide variant not provided [RCV002183901] Chr10:68231600 [GRCh38]
Chr10:69991357 [GRCh37]
Chr10:10q21.3		 likely benign
NM_145178.4(ATOH7):c.102G>C (p.Arg34=) single nucleotide variant not provided [RCV002135922] Chr10:68231576 [GRCh38]
Chr10:69991333 [GRCh37]
Chr10:10q21.3		 likely benign
NM_145178.4(ATOH7):c.210G>A (p.Trp70Ter) single nucleotide variant not provided [RCV002837734] Chr10:68231468 [GRCh38]
Chr10:69991225 [GRCh37]
Chr10:10q21.3		 uncertain significance
GRCh37/hg19 10q21.3(chr10:69824933-70070858)x1 copy number loss not provided [RCV002473489] Chr10:69824933..70070858 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.28C>G (p.Pro10Ala) single nucleotide variant not provided [RCV002304579] Chr10:68231650 [GRCh38]
Chr10:69991407 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.74G>A (p.Cys25Tyr) single nucleotide variant not provided [RCV002301251] Chr10:68231604 [GRCh38]
Chr10:69991361 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.6G>C (p.Lys2Asn) single nucleotide variant not provided [RCV002816100] Chr10:68231672 [GRCh38]
Chr10:69991429 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.402G>T (p.Glu134Asp) single nucleotide variant not provided [RCV002820115]|not specified [RCV004064903] Chr10:68231276 [GRCh38]
Chr10:69991033 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.291C>A (p.Ala97=) single nucleotide variant not provided [RCV002815702] Chr10:68231387 [GRCh38]
Chr10:69991144 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.140C>T (p.Ala47Val) single nucleotide variant not specified [RCV004170037] Chr10:68231538 [GRCh38]
Chr10:69991295 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.59C>G (p.Ala20Gly) single nucleotide variant not provided [RCV002996061]|not specified [RCV005288871] Chr10:68231619 [GRCh38]
Chr10:69991376 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.24C>T (p.Gly8=) single nucleotide variant not provided [RCV002730493] Chr10:68231654 [GRCh38]
Chr10:69991411 [GRCh37]
Chr10:10q21.3		 likely benign
NM_145178.4(ATOH7):c.68C>A (p.Thr23Asn) single nucleotide variant not provided [RCV002613892] Chr10:68231610 [GRCh38]
Chr10:69991367 [GRCh37]
Chr10:10q21.3		 uncertain significance
GRCh37/hg19 10q21.3(chr10:69824933-70064085)x1 copy number loss not provided [RCV002475874] Chr10:69824933..70064085 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.435C>T (p.Pro145=) single nucleotide variant not provided [RCV002681883] Chr10:68231243 [GRCh38]
Chr10:69991000 [GRCh37]
Chr10:10q21.3		 likely benign
NM_145178.4(ATOH7):c.218A>G (p.Asp73Gly) single nucleotide variant not specified [RCV004215102] Chr10:68231460 [GRCh38]
Chr10:69991217 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.202C>G (p.Pro68Ala) single nucleotide variant not provided [RCV003002105] Chr10:68231476 [GRCh38]
Chr10:69991233 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.408C>T (p.Tyr136=) single nucleotide variant not provided [RCV002690680] Chr10:68231270 [GRCh38]
Chr10:69991027 [GRCh37]
Chr10:10q21.3		 likely benign
NM_145178.4(ATOH7):c.426C>T (p.Gly142=) single nucleotide variant not provided [RCV002659563] Chr10:68231252 [GRCh38]
Chr10:69991009 [GRCh37]
Chr10:10q21.3		 likely benign
NM_145178.4(ATOH7):c.7T>C (p.Ser3Pro) single nucleotide variant not provided [RCV002659577] Chr10:68231671 [GRCh38]
Chr10:69991428 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.348C>G (p.Phe116Leu) single nucleotide variant not provided [RCV002760534] Chr10:68231330 [GRCh38]
Chr10:69991087 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.109A>G (p.Ser37Gly) single nucleotide variant not provided [RCV002927281] Chr10:68231569 [GRCh38]
Chr10:69991326 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.360C>T (p.His120=) single nucleotide variant not provided [RCV002914859] Chr10:68231318 [GRCh38]
Chr10:69991075 [GRCh37]
Chr10:10q21.3		 likely benign
NM_145178.4(ATOH7):c.383A>C (p.Lys128Thr) single nucleotide variant not provided [RCV002576174] Chr10:68231295 [GRCh38]
Chr10:69991052 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.35G>A (p.Gly12Glu) single nucleotide variant not provided [RCV002917772] Chr10:68231643 [GRCh38]
Chr10:69991400 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.33G>A (p.Ala11=) single nucleotide variant not provided [RCV002918956] Chr10:68231645 [GRCh38]
Chr10:69991402 [GRCh37]
Chr10:10q21.3		 likely benign
NM_145178.4(ATOH7):c.433C>G (p.Pro145Ala) single nucleotide variant not provided [RCV002573858]|not specified [RCV004064358] Chr10:68231245 [GRCh38]
Chr10:69991002 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.187T>A (p.Leu63Ile) single nucleotide variant not provided [RCV003030730] Chr10:68231491 [GRCh38]
Chr10:69991248 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.139G>A (p.Ala47Thr) single nucleotide variant not provided [RCV003062263] Chr10:68231539 [GRCh38]
Chr10:69991296 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.53C>G (p.Pro18Arg) single nucleotide variant not provided [RCV003009963] Chr10:68231625 [GRCh38]
Chr10:69991382 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.28C>T (p.Pro10Ser) single nucleotide variant not provided [RCV003026900] Chr10:68231650 [GRCh38]
Chr10:69991407 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.193A>C (p.Arg65=) single nucleotide variant not provided [RCV002601908] Chr10:68231485 [GRCh38]
Chr10:69991242 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.306C>T (p.Phe102=) single nucleotide variant not provided [RCV002676708] Chr10:68231372 [GRCh38]
Chr10:69991129 [GRCh37]
Chr10:10q21.3		 likely benign
NM_145178.4(ATOH7):c.62_63delinsTT (p.Gly21Val) indel not provided [RCV002653704] Chr10:68231615..68231616 [GRCh38]
Chr10:69991372..69991373 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.449T>C (p.Met150Thr) single nucleotide variant not provided [RCV002635677] Chr10:68231229 [GRCh38]
Chr10:69990986 [GRCh37]
Chr10:10q21.3		 uncertain significance
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3		 pathogenic
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3		 pathogenic
NM_145178.4(ATOH7):c.133G>A (p.Ala45Thr) single nucleotide variant not specified [RCV004362170] Chr10:68231545 [GRCh38]
Chr10:69991302 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.79G>A (p.Gly27Ser) single nucleotide variant not specified [RCV004352585] Chr10:68231599 [GRCh38]
Chr10:69991356 [GRCh37]
Chr10:10q21.3		 uncertain significance
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 copy number gain not provided [RCV003484798] Chr10:42709645..100834951 [GRCh37]
Chr10:10q11.21-24.2		 pathogenic
GRCh37/hg19 10q11.23-22.1(chr10:51735638-70791246)x1 copy number loss not provided [RCV003483092] Chr10:51735638..70791246 [GRCh37]
Chr10:10q11.23-22.1		 pathogenic
NM_145178.4(ATOH7):c.365T>G (p.Leu122Arg) single nucleotide variant not specified [RCV004425509] Chr10:68231313 [GRCh38]
Chr10:69991070 [GRCh37]
Chr10:10q21.3		 uncertain significance
NC_000010.11:g.(?_59792917)_(68231677_?)del deletion Intellectual developmental disorder, autosomal dominant 70 [RCV003883491] Chr10:59792917..68231677 [GRCh38]
Chr10:10q21.2-21.3		 likely pathogenic
NM_145178.4(ATOH7):c.119G>A (p.Arg40His) single nucleotide variant not specified [RCV004869411] Chr10:68231559 [GRCh38]
Chr10:69991316 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.125G>A (p.Arg42His) single nucleotide variant not provided [RCV005126287] Chr10:68231553 [GRCh38]
Chr10:69991310 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.148C>G (p.Arg50Gly) single nucleotide variant not provided [RCV005126297] Chr10:68231530 [GRCh38]
Chr10:69991287 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.231C>T (p.Ser77=) single nucleotide variant not provided [RCV005149849] Chr10:68231447 [GRCh38]
Chr10:69991204 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.240G>T (p.Glu80Asp) single nucleotide variant not specified [RCV005286539] Chr10:68231438 [GRCh38]
Chr10:69991195 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_145178.4(ATOH7):c.202C>T (p.Pro68Ser) single nucleotide variant not specified [RCV004679741] Chr10:68231476 [GRCh38]
Chr10:69991233 [GRCh37]
Chr10:10q21.3		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:270
Count of miRNA genes:244
Interacting mature miRNAs:252
Transcripts:ENST00000373673
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
407189707GWAS838683_Hcup-to-disc ratio measurement QTL GWAS838683 (human)1e-98cup-to-disc ratio measurement106823209668232097Human
597323210GWAS1419284_Hcup-to-disc ratio measurement QTL GWAS1419284 (human)1e-98cup-to-disc ratio measurement106823209668232097Human
597995316GWAS1714615_Hoptic disc quality QTL GWAS1714615 (human)2e-10optic disc quality106823209668232097Human
628411876GWAS2320105_Hcup-to-disc ratio measurement QTL GWAS2320105 (human)7e-35optic disc morphology trait (VT:0006215)106823209668232097Human
406923796GWAS572772_Hsmoking initiation QTL GWAS572772 (human)8e-13smoking initiation106823209668232097Human
628412322GWAS2320551_Hcup-to-disc ratio measurement QTL GWAS2320551 (human)3e-67optic disc morphology trait (VT:0006215)106823209668232097Human
407073179GWAS722155_Hoptic disc measurement QTL GWAS722155 (human)2e-10optic disc measurement106823209668232097Human
407022683GWAS671659_Hoptic disc size measurement QTL GWAS671659 (human)2e-15optic disc size measurement106823209668232097Human
628549999GWAS2458228_Hcup-to-disc ratio measurement QTL GWAS2458228 (human)1e-98optic disc morphology trait (VT:0006215)106823209668232097Human
597620929GWAS1677789_Hopen-angle glaucoma QTL GWAS1677789 (human)7e-61open-angle glaucoma106823209668232097Human
597146486GWAS1242560_Hphotoreceptor cell layer thickness measurement QTL GWAS1242560 (human)4e-13smoking initiation106823209668232097Human
628435860GWAS2344089_Hoptic cup area QTL GWAS2344089 (human)9e-13optic cup area106823209668232097Human
406921893GWAS570869_Hcup-to-disc ratio measurement QTL GWAS570869 (human)7e-35cup-to-disc ratio measurement106823209668232097Human
628551379GWAS2459608_Hcup-to-disc ratio measurement QTL GWAS2459608 (human)2e-131optic disc morphology trait (VT:0006215)106823209668232097Human
597322941GWAS1419015_Hsmoking initiation QTL GWAS1419015 (human)8e-13smoking initiation106823209668232097Human
628732702GWAS2640931_HBMI-adjusted hip circumference QTL GWAS2640931 (human)5e-08BMI-adjusted hip circumferencehip circumference (CMO:0000014)106823209668232097Human
597984653GWAS1703952_Hoptic cup area QTL GWAS1703952 (human)9e-13optic cup area106823209668232097Human
628987604GWAS2895833_Hopen-angle glaucoma QTL GWAS2895833 (human)7e-61eye integrity trait (VT:0011107)106823209668232097Human
407212143GWAS861119_Hcup-to-disc ratio measurement QTL GWAS861119 (human)2e-131cup-to-disc ratio measurement106823209668232097Human
628864145GWAS2772374_Hsmoking initiation QTL GWAS2772374 (human)8e-13behavior trait (VT:0010442)106823209668232097Human
407355052GWAS1004028_HBMI-adjusted hip circumference QTL GWAS1004028 (human)5e-08BMI-adjusted hip circumference106823209668232097Human
406934252GWAS583228_Hoptic cup area measurement QTL GWAS583228 (human)9e-13optic cup area measurement106823209668232097Human
628848534GWAS2756763_Hsmoking initiation QTL GWAS2756763 (human)4e-13retinal photoreceptor layer morphology trait (VT:0003728)106823209668232097Human
406917742GWAS566718_Hcup-to-disc ratio measurement QTL GWAS566718 (human)3e-67cup-to-disc ratio measurement106823209668232097Human
406913330GWAS562306_Hphotoreceptor cell layer thickness measurement QTL GWAS562306 (human)4e-13smoking initiation106823209668232097Human
597287533GWAS1383607_HBMI-adjusted hip circumference QTL GWAS1383607 (human)5e-08BMI-adjusted hip circumference106823209668232097Human
597321966GWAS1418040_Hcup-to-disc ratio measurement QTL GWAS1418040 (human)2e-131cup-to-disc ratio measurement106823209668232097Human
597980691GWAS1699990_Hoptic disc size trait QTL GWAS1699990 (human)2e-15optic disc size trait106823209668232097Human
597059756GWAS1155830_Hoptic cup area measurement QTL GWAS1155830 (human)9e-13optic cup area measurement106823209668232097Human

Markers in Region
D10S522  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371068,864,818 - 68,865,150UniSTSGRCh37
Build 361068,534,824 - 68,535,156RGDNCBI36
Celera1062,140,069 - 62,140,417RGD
Cytogenetic Map10q21UniSTS
Cytogenetic Map10q22.2UniSTS
HuRef1062,863,921 - 62,864,269UniSTS
Marshfield Genetic Map1084.36RGD
Marshfield Genetic Map1084.36UniSTS
D10S1418  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371070,512,609 - 70,512,770UniSTSGRCh37
Build 361070,182,615 - 70,182,776RGDNCBI36
Celera1063,788,531 - 63,788,688RGD
Cytogenetic Map10q21UniSTS
Cytogenetic Map10q21.3UniSTS
HuRef1064,514,008 - 64,514,165UniSTS
Whitehead-RH Map10437.7UniSTS
Whitehead-YAC Contig Map10 UniSTS


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
visual system
1095 2287 2472 1836 4824 1594 2080 1 594 1012 449 2132 5632 4938 41 3680 780 1645 1374 154 1

Sequence


Ensembl Acc Id: ENST00000373673   ⟹   ENSP00000362777
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1068,230,595 - 68,232,113 (-)Ensembl
RefSeq Acc Id: NM_145178   ⟹   NP_660161
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381068,230,595 - 68,232,113 (-)NCBI
GRCh371069,990,352 - 69,991,870 (-)NCBI
Build 361069,660,387 - 69,661,861 (-)NCBI Archive
Celera1063,264,910 - 63,266,384 (-)RGD
HuRef1063,990,057 - 63,991,575 (-)NCBI
CHM1_11070,272,108 - 70,273,626 (-)NCBI
T2T-CHM13v2.01069,099,395 - 69,100,913 (-)NCBI
Sequence:
RefSeq Acc Id: NP_660161   ⟸   NM_145178
- UniProtKB: Q8N100 (UniProtKB/Swiss-Prot),   F1T0H4 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000362777   ⟸   ENST00000373673
Protein Domains
bHLH

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8N100-F1-model_v2 AlphaFold Q8N100 1-152 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13907 AgrOrtholog
COSMIC ATOH7 COSMIC
Ensembl Genes ENSG00000179774 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000373673 ENTREZGENE
  ENST00000373673.5 UniProtKB/Swiss-Prot
Gene3D-CATH 4.10.280.10 UniProtKB/Swiss-Prot
GTEx ENSG00000179774 GTEx
HGNC ID HGNC:13907 ENTREZGENE
Human Proteome Map ATOH7 Human Proteome Map
InterPro Atoh7 UniProtKB/Swiss-Prot
  bHLH_dom UniProtKB/Swiss-Prot
  bHLH_transcription_factors UniProtKB/Swiss-Prot
  HLH_DNA-bd_sf UniProtKB/Swiss-Prot
KEGG Report hsa:220202 UniProtKB/Swiss-Prot
NCBI Gene 220202 ENTREZGENE
OMIM 609875 OMIM
PANTHER BASIC HELIX-LOOP-HELIX PROTEIN NEUROGENIN-RELATED UniProtKB/Swiss-Prot
  PTHR19290:SF99 UniProtKB/Swiss-Prot
Pfam HLH UniProtKB/Swiss-Prot
PharmGKB PA38369 PharmGKB
PROSITE BHLH UniProtKB/Swiss-Prot
SMART HLH UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47459 UniProtKB/Swiss-Prot
UniProt ATOH7_HUMAN UniProtKB/Swiss-Prot
  F1T0H4 ENTREZGENE, UniProtKB/TrEMBL
  Q8N100 ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-06-23 ATOH7  atonal bHLH transcription factor 7    atonal homolog 7 (Drosophila)  Symbol and/or name change 5135510 APPROVED