ADCY1 (adenylate cyclase 1) - Rat Genome Database

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Gene: ADCY1 (adenylate cyclase 1) Homo sapiens
Analyze
Symbol: ADCY1
Name: adenylate cyclase 1
RGD ID: 1319601
HGNC Page HGNC:232
Description: Predicted to enable calcium- and calmodulin-responsive adenylate cyclase activity. Predicted to be involved in several processes, including cAMP biosynthetic process; cellular response to forskolin; and positive regulation of CREB transcription factor activity. Predicted to act upstream of or within axonogenesis and long-term memory. Located in plasma membrane. Implicated in autosomal recessive nonsyndromic deafness 44.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 3',5'-cyclic AMP synthetase; AC1; adenyl cyclase; adenylate cyclase 1 (brain); adenylate cyclase type 1; adenylate cyclase type I; adenylyl cyclase 1; adenylyl cyclase subtype 1; ATP pyrophosphate-lyase 1; Ca(2+)/calmodulin-activated adenylyl cyclase; deafness, autosomal recessive 44; DFNB44
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
GRCh38745,574,140 - 45,723,116 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl745,574,140 - 45,723,116 (+)EnsemblGRCh38hg38GRCh38
GRCh37745,613,739 - 45,762,715 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36745,580,646 - 45,729,237 (+)NCBINCBI36Build 36hg18NCBI36
Build 34745,387,360 - 45,535,952NCBI
Celera745,713,145 - 45,861,628 (+)NCBICelera
Cytogenetic Map7p12.3NCBI
HuRef745,497,881 - 45,646,668 (+)NCBIHuRef
CHM1_1745,617,991 - 45,766,937 (+)NCBICHM1_1
T2T-CHM13v2.0745,734,849 - 45,884,850 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2745,653,346 - 45,802,046 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,1-dichloroethene  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP)
arsenite(3-)  (ISO)
arsenous acid  (ISO)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
buta-1,3-diene  (ISO)
cadmium dichloride  (EXP)
chlordecone  (ISO)
chlorpyrifos  (ISO)
cisplatin  (EXP)
cyclosporin A  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (ISO)
diazinon  (ISO)
dichloroacetic acid  (ISO)
diethyl malate  (ISO)
diethylstilbestrol  (EXP)
dioxygen  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
ethanol  (ISO)
fenofibrate  (EXP)
ibuprofen  (EXP)
indometacin  (EXP)
inulin  (ISO)
lipopolysaccharide  (EXP)
methapyrilene  (EXP)
methoxychlor  (ISO)
methylmercury chloride  (EXP)
morphine  (ISO)
N,N-diethyl-m-toluamide  (ISO)
obeticholic acid  (EXP)
ozone  (ISO)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
permethrin  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP)
rotenone  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP,ISO)
sodium arsenite  (EXP)
sunitinib  (EXP)
testosterone  (ISO)
titanium dioxide  (ISO)
tributylstannane  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
valproic acid  (EXP,ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
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. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
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
8. Physiological roles for G protein-regulated adenylyl cyclase isoforms: insights from knockout and overexpression studies. Sadana R and Dessauer CW, Neurosignals. 2009;17(1):5-22. Epub 2008 Oct 24.
Additional References at PubMed
PMID:2121366   PMID:2165385   PMID:7937899   PMID:7959689   PMID:8314585   PMID:8476432   PMID:8663304   PMID:8692867   PMID:9417641   PMID:10089566   PMID:10807185   PMID:10808179  
PMID:11299302   PMID:11549699   PMID:11884542   PMID:12477932   PMID:12503609   PMID:12626323   PMID:12690205   PMID:12743114   PMID:12853948   PMID:14702039   PMID:14993377   PMID:15133516  
PMID:15361543   PMID:15583425   PMID:16531006   PMID:17586501   PMID:19029295   PMID:19056867   PMID:19058789   PMID:19156168   PMID:19460752   PMID:19726641   PMID:19834535   PMID:20554763  
PMID:21873635   PMID:23504261   PMID:24482543   PMID:25462816   PMID:25568126   PMID:25591908   PMID:25613138   PMID:28122154   PMID:28223412   PMID:28298427   PMID:28611215   PMID:28656888  
PMID:30867808   PMID:32460013   PMID:34512170   PMID:34650124   PMID:35076816   PMID:36913138  


Genomics

Comparative Map Data
ADCY1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38745,574,140 - 45,723,116 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl745,574,140 - 45,723,116 (+)EnsemblGRCh38hg38GRCh38
GRCh37745,613,739 - 45,762,715 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36745,580,646 - 45,729,237 (+)NCBINCBI36Build 36hg18NCBI36
Build 34745,387,360 - 45,535,952NCBI
Celera745,713,145 - 45,861,628 (+)NCBICelera
Cytogenetic Map7p12.3NCBI
HuRef745,497,881 - 45,646,668 (+)NCBIHuRef
CHM1_1745,617,991 - 45,766,937 (+)NCBICHM1_1
T2T-CHM13v2.0745,734,849 - 45,884,850 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2745,653,346 - 45,802,046 (+)NCBI
Adcy1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39117,013,433 - 7,128,506 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl117,013,489 - 7,128,506 (+)EnsemblGRCm39 Ensembl
GRCm38117,063,433 - 7,178,506 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl117,063,489 - 7,178,506 (+)EnsemblGRCm38mm10GRCm38
MGSCv37116,963,492 - 7,078,509 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36116,963,492 - 7,078,509 (+)NCBIMGSCv36mm8
Celera117,538,560 - 7,653,962 (+)NCBICelera
Cytogenetic Map11A1NCBI
cM Map114.72NCBI
Adcy1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81486,125,119 - 86,234,459 (+)NCBIGRCr8
mRatBN7.21481,911,240 - 82,020,594 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1481,911,099 - 82,028,969 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1486,312,501 - 86,421,804 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01487,552,335 - 87,661,649 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01484,001,921 - 84,110,208 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01487,311,970 - 87,429,880 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1487,312,203 - 87,421,659 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01480,947,153 - 81,055,801 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41487,812,256 - 87,923,402 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11487,831,237 - 87,942,547 (+)NCBI
Celera1480,985,818 - 81,095,021 (+)NCBICelera
Cytogenetic Map14q21NCBI
Adcy1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554566,841,637 - 6,930,990 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554566,833,992 - 6,930,990 (-)NCBIChiLan1.0ChiLan1.0
ADCY1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2650,488,461 - 50,636,235 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1798,813,198 - 98,963,382 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0746,289,042 - 46,436,839 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1746,354,645 - 46,501,637 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl746,354,640 - 46,492,549 (+)Ensemblpanpan1.1panPan2
ADCY1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1161,064,644 - 1,166,864 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl161,037,162 - 1,167,094 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha16484,554 - 595,249 (-)NCBIDog10K_Boxer_Tasha
Dog10K_Boxer_Tasha161,840,487 - 1,857,161 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0161,051,164 - 1,153,484 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl161,023,782 - 1,153,699 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1161,041,775 - 1,139,427 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.016977,374 - 1,056,190 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01696,213 - 197,299 (+)NCBIUU_Cfam_GSD_1.0
Adcy1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118101,098,778 - 101,252,942 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647820,310,503 - 20,456,141 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647820,310,509 - 20,477,506 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ADCY1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1850,051,364 - 50,143,628 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11850,043,572 - 50,143,549 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21854,887,477 - 54,978,872 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ADCY1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12112,976,687 - 13,117,876 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2112,979,033 - 13,117,730 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660629,421,819 - 9,563,930 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Adcy1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247406,922,879 - 7,003,658 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247406,915,445 - 7,003,299 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ADCY1
289 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_021116.4(ADCY1):c.2718+58G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 44 [RCV001549074]|not provided [RCV001647417] Chr7:45703804 [GRCh38]
Chr7:45743403 [GRCh37]
Chr7:7p12.3		 benign
NM_021116.4(ADCY1):c.450C>T (p.Ala150=) single nucleotide variant not provided [RCV000728060] Chr7:45574993 [GRCh38]
Chr7:45614592 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.1606-6C>T single nucleotide variant not provided [RCV000727903] Chr7:45677863 [GRCh38]
Chr7:45717462 [GRCh37]
Chr7:7p12.3		 uncertain significance
GRCh38/hg38 7p13-12.3(chr7:44193369-46558381)x1 copy number loss See cases [RCV000052316] Chr7:44193369..46558381 [GRCh38]
Chr7:44232968..46597979 [GRCh37]
Chr7:44199493..46564504 [NCBI36]
Chr7:7p13-12.3		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p14.1-12.3(chr7:39814159-45749735)x1 copy number loss See cases [RCV000053132] Chr7:39814159..45749735 [GRCh38]
Chr7:39853758..45789334 [GRCh37]
Chr7:39820283..45755859 [NCBI36]
Chr7:7p14.1-12.3		 pathogenic
GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3 copy number gain See cases [RCV000053532] Chr7:33328312..62377476 [GRCh38]
Chr7:33367924..61831899 [GRCh37]
Chr7:33334449..61469334 [NCBI36]
Chr7:7p14.3-q11.21		 pathogenic
NM_021116.2(ADCY1):c.1482A>C (p.Lys494Asn) single nucleotide variant Malignant melanoma [RCV000061655] Chr7:45662091 [GRCh38]
Chr7:45701690 [GRCh37]
Chr7:45668215 [NCBI36]
Chr7:7p12.3		 not provided
NM_021116.4(ADCY1):c.3112C>T (p.Arg1038Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 44 [RCV000128528] Chr7:45713747 [GRCh38]
Chr7:45753346 [GRCh37]
Chr7:7p12.3		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p13-12.1(chr7:44571949-53699760)x1 copy number loss See cases [RCV000134973] Chr7:44571949..53699760 [GRCh38]
Chr7:44611548..53767453 [GRCh37]
Chr7:44578073..53734947 [NCBI36]
Chr7:7p13-12.1		 pathogenic
GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1 copy number loss See cases [RCV000136092] Chr7:40534157..56107122 [GRCh38]
Chr7:40573756..56174815 [GRCh37]
Chr7:40540281..56142309 [NCBI36]
Chr7:7p14.1-11.2		 pathogenic
GRCh38/hg38 7p14.1-12.1(chr7:40020598-50543500)x1 copy number loss See cases [RCV000136904] Chr7:40020598..50543500 [GRCh38]
Chr7:40060197..50611198 [GRCh37]
Chr7:40026722..50578692 [NCBI36]
Chr7:7p14.1-12.1		 pathogenic
GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)x1 copy number loss See cases [RCV000137139] Chr7:37303478..48660738 [GRCh38]
Chr7:37343082..48700334 [GRCh37]
Chr7:37309607..48670880 [NCBI36]
Chr7:7p14.1-12.3		 pathogenic
NM_021116.4(ADCY1):c.1149-29T>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 44 [RCV001549072]|not provided [RCV001655879] Chr7:45657698 [GRCh38]
Chr7:45697297 [GRCh37]
Chr7:7p12.3		 benign
NM_021116.4(ADCY1):c.2454+4A>G single nucleotide variant not provided [RCV000597905] Chr7:45686677 [GRCh38]
Chr7:45726276 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.2327+6T>A single nucleotide variant ADCY1-related disorder [RCV003952972]|not provided [RCV000969214]|not specified [RCV000591305] Chr7:45686221 [GRCh38]
Chr7:45725820 [GRCh37]
Chr7:7p12.3		 benign|likely benign
NM_021116.4(ADCY1):c.2694C>T (p.Asn898=) single nucleotide variant ADCY1-related disorder [RCV003980364]|not provided [RCV002060969]|not specified [RCV000728412] Chr7:45703722 [GRCh38]
Chr7:45743321 [GRCh37]
Chr7:7p12.3		 benign|likely benign
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p14.1-12.3(chr7:40350383-47034422)x1 copy number loss See cases [RCV000446941] Chr7:40350383..47034422 [GRCh37]
Chr7:7p14.1-12.3		 pathogenic
NM_021116.4(ADCY1):c.1628C>T (p.Ser543Leu) single nucleotide variant not provided [RCV000431644] Chr7:45677891 [GRCh38]
Chr7:45717490 [GRCh37]
Chr7:7p12.3		 uncertain significance
GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3 copy number gain See cases [RCV000512091] Chr7:11048840..52863626 [GRCh37]
Chr7:7p21.3-12.1		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_021116.4(ADCY1):c.1450-5G>T single nucleotide variant ADCY1-related disorder [RCV003917970]|not provided [RCV000991506]|not specified [RCV000609489] Chr7:45662054 [GRCh38]
Chr7:45701653 [GRCh37]
Chr7:7p12.3		 benign
NM_021116.4(ADCY1):c.3090G>A (p.Arg1030=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 44 [RCV001549075]|not provided [RCV001653948]|not specified [RCV000607464] Chr7:45713725 [GRCh38]
Chr7:45753324 [GRCh37]
Chr7:7p12.3		 benign
NM_021116.4(ADCY1):c.1554C>T (p.Phe518=) single nucleotide variant not provided [RCV000991507]|not specified [RCV000610935] Chr7:45662163 [GRCh38]
Chr7:45701762 [GRCh37]
Chr7:7p12.3		 benign
NM_021116.4(ADCY1):c.2133G>A (p.Ser711=) single nucleotide variant not provided [RCV003767748]|not specified [RCV000614444] Chr7:45686021 [GRCh38]
Chr7:45725620 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.897C>T (p.His299=) single nucleotide variant not provided [RCV000959669]|not specified [RCV000607147] Chr7:45610486 [GRCh38]
Chr7:45650085 [GRCh37]
Chr7:7p12.3		 benign
NM_021116.4(ADCY1):c.1307+14G>A single nucleotide variant not provided [RCV003767459]|not specified [RCV000600888] Chr7:45657899 [GRCh38]
Chr7:45697498 [GRCh37]
Chr7:7p12.3		 likely benign
GRCh37/hg19 7p13-12.3(chr7:45138764-45765279)x1 copy number loss not provided [RCV000682859] Chr7:45138764..45765279 [GRCh37]
Chr7:7p13-12.3		 uncertain significance
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Childhood apraxia of speech [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_021116.4(ADCY1):c.1789C>T (p.Arg597Trp) single nucleotide variant ADCY1-related disorder [RCV003910960]|Autosomal recessive nonsyndromic hearing loss 44 [RCV002506726]|not provided [RCV001678669] Chr7:45678052 [GRCh38]
Chr7:45717651 [GRCh37]
Chr7:7p12.3		 benign|likely benign
NM_021116.4(ADCY1):c.908+271_908+272insGGTG insertion not provided [RCV001645716] Chr7:45610768..45610769 [GRCh38]
Chr7:45650367..45650368 [GRCh37]
Chr7:7p12.3		 benign
NM_021116.4(ADCY1):c.2074-76G>T single nucleotide variant not provided [RCV001610001] Chr7:45685886 [GRCh38]
Chr7:45725485 [GRCh37]
Chr7:7p12.3		 benign
NM_021116.4(ADCY1):c.789+115T>G single nucleotide variant not provided [RCV001665721] Chr7:45593023 [GRCh38]
Chr7:45632622 [GRCh37]
Chr7:7p12.3		 benign
NM_021116.4(ADCY1):c.2571+37T>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 44 [RCV001549073]|not provided [RCV001647416] Chr7:45703529 [GRCh38]
Chr7:45743128 [GRCh37]
Chr7:7p12.3		 benign
NM_021116.4(ADCY1):c.2817+217C>T single nucleotide variant not provided [RCV001612535] Chr7:45704833 [GRCh38]
Chr7:45744432 [GRCh37]
Chr7:7p12.3		 benign
NM_021116.4(ADCY1):c.2739C>T (p.Tyr913=) single nucleotide variant not provided [RCV000961781] Chr7:45704538 [GRCh38]
Chr7:45744137 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.1450-45G>T single nucleotide variant not provided [RCV001708196] Chr7:45662014 [GRCh38]
Chr7:45701613 [GRCh37]
Chr7:7p12.3		 benign
NM_021116.4(ADCY1):c.1310A>G (p.Lys437Arg) single nucleotide variant not provided [RCV000991505] Chr7:45660044 [GRCh38]
Chr7:45699643 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.1833C>T (p.Ser611=) single nucleotide variant not provided [RCV000880201] Chr7:45678198 [GRCh38]
Chr7:45717797 [GRCh37]
Chr7:7p12.3		 likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_021116.4(ADCY1):c.2817+5G>A single nucleotide variant not specified [RCV000825273] Chr7:45704621 [GRCh38]
Chr7:45744220 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.790-3C>T single nucleotide variant not specified [RCV000825856] Chr7:45610376 [GRCh38]
Chr7:45649975 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.1200C>T (p.His400=) single nucleotide variant not provided [RCV003558605]|not specified [RCV000825695] Chr7:45657778 [GRCh38]
Chr7:45697377 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.3184G>A (p.Gly1062Ser) single nucleotide variant ADCY1-related disorder [RCV003938177]|not provided [RCV000963331]|not specified [RCV000825657] Chr7:45713819 [GRCh38]
Chr7:45753418 [GRCh37]
Chr7:7p12.3		 benign
NM_021116.4(ADCY1):c.*3G>T single nucleotide variant not provided [RCV001637994]|not specified [RCV000825658] Chr7:45713998 [GRCh38]
Chr7:45753597 [GRCh37]
Chr7:7p12.3		 benign
NM_021116.4(ADCY1):c.1983+10T>A single nucleotide variant not provided [RCV002536059]|not specified [RCV000825696] Chr7:45679803 [GRCh38]
Chr7:45719402 [GRCh37]
Chr7:7p12.3		 benign|likely benign
NM_021116.4(ADCY1):c.2338G>A (p.Val780Ile) single nucleotide variant not provided [RCV003768555]|not specified [RCV000825697] Chr7:45686557 [GRCh38]
Chr7:45726156 [GRCh37]
Chr7:7p12.3		 likely benign|uncertain significance
NM_021116.4(ADCY1):c.1293C>T (p.Ala431=) single nucleotide variant not provided [RCV000956925]|not specified [RCV000825051] Chr7:45657871 [GRCh38]
Chr7:45697470 [GRCh37]
Chr7:7p12.3		 benign|likely benign
NM_021116.4(ADCY1):c.1406A>G (p.His469Arg) single nucleotide variant Inborn genetic diseases [RCV004029190]|not provided [RCV002536065]|not specified [RCV000825857] Chr7:45660140 [GRCh38]
Chr7:45699739 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.1149-31C>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 44 [RCV001549071]|not provided [RCV001676053] Chr7:45657696 [GRCh38]
Chr7:45697295 [GRCh37]
Chr7:7p12.3		 benign
NM_021116.4(ADCY1):c.984C>T (p.Leu328=) single nucleotide variant not provided [RCV002560186]|not specified [RCV001195183] Chr7:45622707 [GRCh38]
Chr7:45662306 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.2187T>C (p.His729=) single nucleotide variant not specified [RCV001195184] Chr7:45686075 [GRCh38]
Chr7:45725674 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.2719-250G>C single nucleotide variant not provided [RCV001659573] Chr7:45704268 [GRCh38]
Chr7:45743867 [GRCh37]
Chr7:7p12.3		 benign
NM_021116.4(ADCY1):c.908+300T>G single nucleotide variant not provided [RCV001668118] Chr7:45610797 [GRCh38]
Chr7:45650396 [GRCh37]
Chr7:7p12.3		 benign
NM_021116.4(ADCY1):c.908+302G>T single nucleotide variant not provided [RCV001666688] Chr7:45610799 [GRCh38]
Chr7:45650398 [GRCh37]
Chr7:7p12.3		 benign
NM_021116.4(ADCY1):c.1605+2158G>A single nucleotide variant not provided [RCV001688839] Chr7:45664372 [GRCh38]
Chr7:45703971 [GRCh37]
Chr7:7p12.3		 benign
NM_021116.4(ADCY1):c.1308-270_1308-269del deletion not provided [RCV001672062] Chr7:45659772..45659773 [GRCh38]
Chr7:45699371..45699372 [GRCh37]
Chr7:7p12.3		 benign
NM_021116.4(ADCY1):c.234C>G (p.Ala78=) single nucleotide variant not provided [RCV001639798] Chr7:45574777 [GRCh38]
Chr7:45614376 [GRCh37]
Chr7:7p12.3		 benign
NM_021116.4(ADCY1):c.1308-208T>C single nucleotide variant not provided [RCV001682338] Chr7:45659834 [GRCh38]
Chr7:45699433 [GRCh37]
Chr7:7p12.3		 benign
NM_021116.4(ADCY1):c.908+281_908+282insA insertion not provided [RCV001614418] Chr7:45610778..45610779 [GRCh38]
Chr7:45650377..45650378 [GRCh37]
Chr7:7p12.3		 benign
NM_021116.4(ADCY1):c.908+324_908+325insCGG insertion not provided [RCV001616978] Chr7:45610819..45610820 [GRCh38]
Chr7:45650418..45650419 [GRCh37]
Chr7:7p12.3		 benign
NM_021116.4(ADCY1):c.1898+81G>A single nucleotide variant not provided [RCV001674651] Chr7:45678344 [GRCh38]
Chr7:45717943 [GRCh37]
Chr7:7p12.3		 benign
NM_021116.4(ADCY1):c.2454+231G>A single nucleotide variant not provided [RCV001665948] Chr7:45686904 [GRCh38]
Chr7:45726503 [GRCh37]
Chr7:7p12.3		 benign
NM_021116.4(ADCY1):c.2842C>G (p.Leu948Val) single nucleotide variant Inborn genetic diseases [RCV003275646] Chr7:45708374 [GRCh38]
Chr7:45747973 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.1005C>T (p.Phe335=) single nucleotide variant ADCY1-related disorder [RCV003910596]|not provided [RCV000891504] Chr7:45622728 [GRCh38]
Chr7:45662327 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.2784C>T (p.Ala928=) single nucleotide variant not provided [RCV002613413] Chr7:45704583 [GRCh38]
Chr7:45744182 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.1800+49T>C single nucleotide variant not provided [RCV001597755] Chr7:45678112 [GRCh38]
Chr7:45717711 [GRCh37]
Chr7:7p12.3		 benign
NM_021116.4(ADCY1):c.908+276G>A single nucleotide variant not provided [RCV001675516] Chr7:45610773 [GRCh38]
Chr7:45650372 [GRCh37]
Chr7:7p12.3		 benign
NM_021116.4(ADCY1):c.2454+180G>C single nucleotide variant not provided [RCV001669514] Chr7:45686853 [GRCh38]
Chr7:45726452 [GRCh37]
Chr7:7p12.3		 benign
NM_021116.4(ADCY1):c.908+293G>A single nucleotide variant not provided [RCV001653164] Chr7:45610790 [GRCh38]
Chr7:45650389 [GRCh37]
Chr7:7p12.3		 benign
NM_021116.4(ADCY1):c.1308-207G>T single nucleotide variant not provided [RCV001621019] Chr7:45659835 [GRCh38]
Chr7:45699434 [GRCh37]
Chr7:7p12.3		 benign
NM_021116.4(ADCY1):c.2818-16A>G single nucleotide variant not provided [RCV001666990] Chr7:45708334 [GRCh38]
Chr7:45747933 [GRCh37]
Chr7:7p12.3		 benign
NM_021116.4(ADCY1):c.3058-53A>G single nucleotide variant not provided [RCV001710470] Chr7:45713640 [GRCh38]
Chr7:45753239 [GRCh37]
Chr7:7p12.3		 benign
NM_021116.4(ADCY1):c.1021-36G>A single nucleotide variant not provided [RCV001708498] Chr7:45648634 [GRCh38]
Chr7:45688233 [GRCh37]
Chr7:7p12.3		 benign
NM_021116.4(ADCY1):c.3057+317G>A single nucleotide variant not provided [RCV001667484] Chr7:45710969 [GRCh38]
Chr7:45750568 [GRCh37]
Chr7:7p12.3		 benign
NM_021116.4(ADCY1):c.1021-196A>G single nucleotide variant not provided [RCV001680421] Chr7:45648474 [GRCh38]
Chr7:45688073 [GRCh37]
Chr7:7p12.3		 benign
NM_021116.4(ADCY1):c.1148+179A>G single nucleotide variant not provided [RCV001690480] Chr7:45648976 [GRCh38]
Chr7:45688575 [GRCh37]
Chr7:7p12.3		 benign
NM_021116.4(ADCY1):c.2719-62C>T single nucleotide variant not provided [RCV001680476] Chr7:45704456 [GRCh38]
Chr7:45744055 [GRCh37]
Chr7:7p12.3		 benign
NM_021116.4(ADCY1):c.3262C>A (p.Pro1088Thr) single nucleotide variant not provided [RCV003770197]|not specified [RCV001195592] Chr7:45713897 [GRCh38]
Chr7:45753496 [GRCh37]
Chr7:7p12.3		 uncertain significance
GRCh37/hg19 7p14.1-12.3(chr7:41124364-47945566) copy number loss Syndactyly [RCV001352654] Chr7:41124364..47945566 [GRCh37]
Chr7:7p14.1-12.3		 pathogenic
NM_021116.4(ADCY1):c.2540A>G (p.Gln847Arg) single nucleotide variant Inborn genetic diseases [RCV004611038] Chr7:45703461 [GRCh38]
Chr7:45743060 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.2161A>G (p.Thr721Ala) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 44 [RCV001329842]|Inborn genetic diseases [RCV002546354]|not provided [RCV001859267] Chr7:45686049 [GRCh38]
Chr7:45725648 [GRCh37]
Chr7:7p12.3		 likely benign|uncertain significance
NM_021116.4(ADCY1):c.2328-140C>G single nucleotide variant not provided [RCV001766200] Chr7:45686407 [GRCh38]
Chr7:45726006 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.2455-248G>A single nucleotide variant not provided [RCV001766201] Chr7:45703128 [GRCh38]
Chr7:45742727 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.2321G>A (p.Arg774Lys) single nucleotide variant Inborn genetic diseases [RCV004611020] Chr7:45686209 [GRCh38]
Chr7:45725808 [GRCh37]
Chr7:7p12.3		 likely benign
GRCh37/hg19 7p13-12.2(chr7:43341583-50171623) copy number loss Intracranial hemorrhage [RCV001352658] Chr7:43341583..50171623 [GRCh37]
Chr7:7p13-12.2		 pathogenic
NM_021116.4(ADCY1):c.640-267G>A single nucleotide variant not provided [RCV001716645] Chr7:45592492 [GRCh38]
Chr7:45632091 [GRCh37]
Chr7:7p12.3		 benign
NM_021116.4(ADCY1):c.2073+29T>C single nucleotide variant not provided [RCV001609124] Chr7:45685097 [GRCh38]
Chr7:45724696 [GRCh37]
Chr7:7p12.3		 benign
NM_021116.4(ADCY1):c.908+320_908+321insG insertion not provided [RCV001645042] Chr7:45610817..45610818 [GRCh38]
Chr7:45650416..45650417 [GRCh37]
Chr7:7p12.3		 benign
NM_021116.4(ADCY1):c.1988T>C (p.Phe663Ser) single nucleotide variant not provided [RCV003109128] Chr7:45684983 [GRCh38]
Chr7:45724582 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.1660A>G (p.Thr554Ala) single nucleotide variant not provided [RCV003108776] Chr7:45677923 [GRCh38]
Chr7:45717522 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.2817+206T>G single nucleotide variant not provided [RCV001768082] Chr7:45704822 [GRCh38]
Chr7:45744421 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.3282C>T (p.Gly1094=) single nucleotide variant ADCY1-related disorder [RCV004757477]|not provided [RCV001757695] Chr7:45713917 [GRCh38]
Chr7:45753516 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.908+322T>A single nucleotide variant not provided [RCV001752880] Chr7:45610819 [GRCh38]
Chr7:45650418 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.2706C>T (p.Ala902=) single nucleotide variant not provided [RCV001759337] Chr7:45703734 [GRCh38]
Chr7:45743333 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.1149-258A>T single nucleotide variant not provided [RCV001769552] Chr7:45657469 [GRCh38]
Chr7:45697068 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.1149-238C>T single nucleotide variant not provided [RCV001769942] Chr7:45657489 [GRCh38]
Chr7:45697088 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.258C>G (p.Pro86=) single nucleotide variant not provided [RCV001769909] Chr7:45574801 [GRCh38]
Chr7:45614400 [GRCh37]
Chr7:7p12.3		 benign|likely benign
NM_021116.4(ADCY1):c.2379C>G (p.Leu793=) single nucleotide variant not provided [RCV001769913] Chr7:45686598 [GRCh38]
Chr7:45726197 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.462G>A (p.Gly154=) single nucleotide variant not provided [RCV001753006] Chr7:45575005 [GRCh38]
Chr7:45614604 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.1606-232A>C single nucleotide variant not provided [RCV001768156] Chr7:45677637 [GRCh38]
Chr7:45717236 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.1983+132del deletion not provided [RCV001753172] Chr7:45679924 [GRCh38]
Chr7:45719523 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.2295C>T (p.Leu765=) single nucleotide variant ADCY1-related disorder [RCV003911007]|not provided [RCV001753171] Chr7:45686183 [GRCh38]
Chr7:45725782 [GRCh37]
Chr7:7p12.3		 benign|likely benign
NM_021116.4(ADCY1):c.1606-302C>T single nucleotide variant not provided [RCV001769827] Chr7:45677567 [GRCh38]
Chr7:45717166 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.204C>T (p.Leu68=) single nucleotide variant not provided [RCV001766108] Chr7:45574747 [GRCh38]
Chr7:45614346 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.1148+220C>T single nucleotide variant not provided [RCV001757775] Chr7:45649017 [GRCh38]
Chr7:45688616 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.248C>T (p.Ala83Val) single nucleotide variant not provided [RCV001759124] Chr7:45574791 [GRCh38]
Chr7:45614390 [GRCh37]
Chr7:7p12.3		 benign|likely benign
NM_021116.4(ADCY1):c.2327+31T>A single nucleotide variant not provided [RCV001769652] Chr7:45686246 [GRCh38]
Chr7:45725845 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.640-198G>A single nucleotide variant not provided [RCV001757652] Chr7:45592561 [GRCh38]
Chr7:45632160 [GRCh37]
Chr7:7p12.3		 likely benign
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_021116.4(ADCY1):c.2328-153A>G single nucleotide variant not provided [RCV001759105] Chr7:45686394 [GRCh38]
Chr7:45725993 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.2718+66A>G single nucleotide variant not provided [RCV001768070] Chr7:45703812 [GRCh38]
Chr7:45743411 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.2818-266C>T single nucleotide variant not provided [RCV001753131] Chr7:45708084 [GRCh38]
Chr7:45747683 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.1148+197C>T single nucleotide variant not provided [RCV001757776] Chr7:45648994 [GRCh38]
Chr7:45688593 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.2719-145T>A single nucleotide variant not provided [RCV001757777] Chr7:45704373 [GRCh38]
Chr7:45743972 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.3058-126C>T single nucleotide variant not provided [RCV001757656] Chr7:45713567 [GRCh38]
Chr7:45753166 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.2881G>A (p.Val961Ile) single nucleotide variant not provided [RCV001863927] Chr7:45708413 [GRCh38]
Chr7:45748012 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.1714C>T (p.Leu572Phe) single nucleotide variant Inborn genetic diseases [RCV003382765]|not provided [RCV001971069] Chr7:45677977 [GRCh38]
Chr7:45717576 [GRCh37]
Chr7:7p12.3		 uncertain significance
GRCh37/hg19 7p14.1-12.2(chr7:40778439-50228656) copy number loss not specified [RCV002053688] Chr7:40778439..50228656 [GRCh37]
Chr7:7p14.1-12.2		 pathogenic
NM_021116.4(ADCY1):c.1732A>G (p.Thr578Ala) single nucleotide variant not provided [RCV001945916] Chr7:45677995 [GRCh38]
Chr7:45717594 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.2271C>T (p.Ser757=) single nucleotide variant ADCY1-related disorder [RCV003941172]|not provided [RCV001843642] Chr7:45686159 [GRCh38]
Chr7:45725758 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.1864_1865del (p.Leu622fs) deletion not provided [RCV001908395] Chr7:45678229..45678230 [GRCh38]
Chr7:45717828..45717829 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.725C>T (p.Ala242Val) single nucleotide variant not provided [RCV001977260] Chr7:45592844 [GRCh38]
Chr7:45632443 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.1068C>T (p.Cys356=) single nucleotide variant not provided [RCV001992941] Chr7:45648717 [GRCh38]
Chr7:45688316 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.1800+3A>G single nucleotide variant not provided [RCV001930604] Chr7:45678066 [GRCh38]
Chr7:45717665 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.2172C>T (p.Cys724=) single nucleotide variant not provided [RCV001989432] Chr7:45686060 [GRCh38]
Chr7:45725659 [GRCh37]
Chr7:7p12.3		 likely benign|uncertain significance
NM_021116.4(ADCY1):c.2149A>G (p.Thr717Ala) single nucleotide variant not provided [RCV001999494] Chr7:45686037 [GRCh38]
Chr7:45725636 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.439C>G (p.Arg147Gly) single nucleotide variant not provided [RCV001884579] Chr7:45574982 [GRCh38]
Chr7:45614581 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.640-3C>T single nucleotide variant not provided [RCV002046614] Chr7:45592756 [GRCh38]
Chr7:45632355 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.2332G>A (p.Gly778Ser) single nucleotide variant not provided [RCV002026262] Chr7:45686551 [GRCh38]
Chr7:45726150 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.543C>A (p.Ser181Arg) single nucleotide variant not provided [RCV001991947] Chr7:45575086 [GRCh38]
Chr7:45614685 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.2825A>G (p.Lys942Arg) single nucleotide variant Inborn genetic diseases [RCV003303285]|not provided [RCV001897425] Chr7:45708357 [GRCh38]
Chr7:45747956 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.2808G>A (p.Ser936=) single nucleotide variant not provided [RCV002109758] Chr7:45704607 [GRCh38]
Chr7:45744206 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.2343C>G (p.Ser781=) single nucleotide variant not provided [RCV002075826] Chr7:45686562 [GRCh38]
Chr7:45726161 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.1898+13A>G single nucleotide variant not provided [RCV002167688] Chr7:45678276 [GRCh38]
Chr7:45717875 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.273C>A (p.Ala91=) single nucleotide variant not provided [RCV002209793] Chr7:45574816 [GRCh38]
Chr7:45614415 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.1148+18C>A single nucleotide variant not provided [RCV002210102] Chr7:45648815 [GRCh38]
Chr7:45688414 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.642C>T (p.Leu214=) single nucleotide variant not provided [RCV002086465] Chr7:45592761 [GRCh38]
Chr7:45632360 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.2448C>T (p.Ala816=) single nucleotide variant not provided [RCV002129311] Chr7:45686667 [GRCh38]
Chr7:45726266 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.2817+16C>T single nucleotide variant not provided [RCV002124782] Chr7:45704632 [GRCh38]
Chr7:45744231 [GRCh37]
Chr7:7p12.3		 benign
NM_021116.4(ADCY1):c.1203G>A (p.Thr401=) single nucleotide variant ADCY1-related disorder [RCV004757523]|not provided [RCV002109924] Chr7:45657781 [GRCh38]
Chr7:45697380 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.1020+11C>T single nucleotide variant not provided [RCV002209230] Chr7:45622754 [GRCh38]
Chr7:45662353 [GRCh37]
Chr7:7p12.3		 benign
NM_021116.4(ADCY1):c.603C>T (p.Thr201=) single nucleotide variant not provided [RCV002074551] Chr7:45575146 [GRCh38]
Chr7:45614745 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.1701G>A (p.Arg567=) single nucleotide variant not provided [RCV002134012] Chr7:45677964 [GRCh38]
Chr7:45717563 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.1450-17C>A single nucleotide variant not provided [RCV002194107] Chr7:45662042 [GRCh38]
Chr7:45701641 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.1149-20G>A single nucleotide variant not provided [RCV002171675] Chr7:45657707 [GRCh38]
Chr7:45697306 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.1167C>T (p.Thr389=) single nucleotide variant not provided [RCV002213106] Chr7:45657745 [GRCh38]
Chr7:45697344 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.908+19C>T single nucleotide variant not provided [RCV002150641] Chr7:45610516 [GRCh38]
Chr7:45650115 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.3183C>T (p.Asn1061=) single nucleotide variant not provided [RCV002108420] Chr7:45713818 [GRCh38]
Chr7:45753417 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.2933-17C>T single nucleotide variant not provided [RCV002078140] Chr7:45710511 [GRCh38]
Chr7:45750110 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.1665C>T (p.Asn555=) single nucleotide variant not provided [RCV002207038] Chr7:45677928 [GRCh38]
Chr7:45717527 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.2475C>T (p.Asp825=) single nucleotide variant not provided [RCV002097135] Chr7:45703396 [GRCh38]
Chr7:45742995 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.816C>G (p.Pro272=) single nucleotide variant ADCY1-related disorder [RCV003951301]|not provided [RCV002179123] Chr7:45610405 [GRCh38]
Chr7:45650004 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.2455-13C>T single nucleotide variant not provided [RCV002179150] Chr7:45703363 [GRCh38]
Chr7:45742962 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.2454+7C>T single nucleotide variant not provided [RCV002136560] Chr7:45686680 [GRCh38]
Chr7:45726279 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.3243C>A (p.Gly1081=) single nucleotide variant not provided [RCV002202410] Chr7:45713878 [GRCh38]
Chr7:45753477 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.2583C>T (p.Tyr861=) single nucleotide variant not provided [RCV002177461] Chr7:45703611 [GRCh38]
Chr7:45743210 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.2454+8G>C single nucleotide variant not provided [RCV002199569] Chr7:45686681 [GRCh38]
Chr7:45726280 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.1449+8C>T single nucleotide variant ADCY1-related disorder [RCV003951184]|not provided [RCV002120414] Chr7:45660191 [GRCh38]
Chr7:45699790 [GRCh37]
Chr7:7p12.3		 benign|likely benign
NM_021116.4(ADCY1):c.2855C>T (p.Ala952Val) single nucleotide variant not provided [RCV003115803] Chr7:45708387 [GRCh38]
Chr7:45747986 [GRCh37]
Chr7:7p12.3		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
NM_021116.4(ADCY1):c.173A>G (p.Gln58Arg) single nucleotide variant Inborn genetic diseases [RCV003261791] Chr7:45574716 [GRCh38]
Chr7:45614315 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.3200C>T (p.Ser1067Phe) single nucleotide variant not provided [RCV002616191] Chr7:45713835 [GRCh38]
Chr7:45753434 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.1675A>G (p.Thr559Ala) single nucleotide variant Inborn genetic diseases [RCV002774214] Chr7:45677938 [GRCh38]
Chr7:45717537 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.2241G>A (p.Val747=) single nucleotide variant not provided [RCV002615589] Chr7:45686129 [GRCh38]
Chr7:45725728 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.2974C>T (p.Arg992Cys) single nucleotide variant Inborn genetic diseases [RCV002860503] Chr7:45710569 [GRCh38]
Chr7:45750168 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.350C>T (p.Pro117Leu) single nucleotide variant Inborn genetic diseases [RCV002682088]|not provided [RCV003777588] Chr7:45574893 [GRCh38]
Chr7:45614492 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.2092G>A (p.Ala698Thr) single nucleotide variant Inborn genetic diseases [RCV002689067]|not provided [RCV003730365] Chr7:45685980 [GRCh38]
Chr7:45725579 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.2082C>T (p.Cys694=) single nucleotide variant not provided [RCV003016454] Chr7:45685970 [GRCh38]
Chr7:45725569 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.2811G>A (p.Gly937=) single nucleotide variant not provided [RCV002731456] Chr7:45704610 [GRCh38]
Chr7:45744209 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.1442G>A (p.Arg481His) single nucleotide variant not provided [RCV002880664] Chr7:45660176 [GRCh38]
Chr7:45699775 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.1800+19C>T single nucleotide variant not provided [RCV002569865] Chr7:45678082 [GRCh38]
Chr7:45717681 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.602C>T (p.Thr201Ile) single nucleotide variant not provided [RCV002622017] Chr7:45575145 [GRCh38]
Chr7:45614744 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.1983+12G>A single nucleotide variant not provided [RCV002572070] Chr7:45679805 [GRCh38]
Chr7:45719404 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.85C>T (p.Arg29Cys) single nucleotide variant Inborn genetic diseases [RCV002823030] Chr7:45574628 [GRCh38]
Chr7:45614227 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.2817+17G>A single nucleotide variant not provided [RCV002795781] Chr7:45704633 [GRCh38]
Chr7:45744232 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.1983+9G>A single nucleotide variant not provided [RCV002658646] Chr7:45679802 [GRCh38]
Chr7:45719401 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.908+20G>A single nucleotide variant not provided [RCV002592703] Chr7:45610517 [GRCh38]
Chr7:45650116 [GRCh37]
Chr7:7p12.3		 benign
NM_021116.4(ADCY1):c.1148+15G>C single nucleotide variant not provided [RCV002570237] Chr7:45648812 [GRCh38]
Chr7:45688411 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.2391G>A (p.Ala797=) single nucleotide variant not provided [RCV002569606] Chr7:45686610 [GRCh38]
Chr7:45726209 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.1786G>A (p.Glu596Lys) single nucleotide variant not provided [RCV002918899] Chr7:45678049 [GRCh38]
Chr7:45717648 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.2564G>A (p.Arg855Gln) single nucleotide variant not provided [RCV002596863] Chr7:45703485 [GRCh38]
Chr7:45743084 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.2244C>T (p.Ser748=) single nucleotide variant not provided [RCV002573857] Chr7:45686132 [GRCh38]
Chr7:45725731 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.1649C>T (p.Ser550Leu) single nucleotide variant Inborn genetic diseases [RCV002853890] Chr7:45677912 [GRCh38]
Chr7:45717511 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.1174G>A (p.Asp392Asn) single nucleotide variant Inborn genetic diseases [RCV002768368] Chr7:45657752 [GRCh38]
Chr7:45697351 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.2161A>C (p.Thr721Pro) single nucleotide variant Inborn genetic diseases [RCV002987119] Chr7:45686049 [GRCh38]
Chr7:45725648 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.2037A>G (p.Ile679Met) single nucleotide variant not provided [RCV002623519] Chr7:45685032 [GRCh38]
Chr7:45724631 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.2327+13C>G single nucleotide variant not provided [RCV002574954] Chr7:45686228 [GRCh38]
Chr7:45725827 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.3058-17C>G single nucleotide variant not provided [RCV002642322] Chr7:45713676 [GRCh38]
Chr7:45753275 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.2779A>G (p.Met927Val) single nucleotide variant not provided [RCV002890164] Chr7:45704578 [GRCh38]
Chr7:45744177 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.387C>A (p.Phe129Leu) single nucleotide variant Inborn genetic diseases [RCV002665986] Chr7:45574930 [GRCh38]
Chr7:45614529 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.1307+18T>G single nucleotide variant not provided [RCV002786787] Chr7:45657903 [GRCh38]
Chr7:45697502 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.100C>G (p.Arg34Gly) single nucleotide variant Inborn genetic diseases [RCV002790502]|not provided [RCV002790503] Chr7:45574643 [GRCh38]
Chr7:45614242 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.4G>C (p.Ala2Pro) single nucleotide variant not provided [RCV003006187] Chr7:45574547 [GRCh38]
Chr7:45614146 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.1686C>T (p.Gly562=) single nucleotide variant not provided [RCV002626845] Chr7:45677949 [GRCh38]
Chr7:45717548 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.2049C>G (p.Ile683Met) single nucleotide variant not provided [RCV002828606] Chr7:45685044 [GRCh38]
Chr7:45724643 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.2343C>T (p.Ser781=) single nucleotide variant not provided [RCV002575342] Chr7:45686562 [GRCh38]
Chr7:45726161 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.2817+11C>T single nucleotide variant not provided [RCV002810587] Chr7:45704627 [GRCh38]
Chr7:45744226 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.1867T>A (p.Phe623Ile) single nucleotide variant Inborn genetic diseases [RCV002940721] Chr7:45678232 [GRCh38]
Chr7:45717831 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.2818-18C>A single nucleotide variant not provided [RCV002581149] Chr7:45708332 [GRCh38]
Chr7:45747931 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.2004G>A (p.Thr668=) single nucleotide variant ADCY1-related disorder [RCV003916490]|not provided [RCV002577638] Chr7:45684999 [GRCh38]
Chr7:45724598 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.337T>C (p.Ser113Pro) single nucleotide variant not provided [RCV002810166] Chr7:45574880 [GRCh38]
Chr7:45614479 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.1596C>T (p.Asp532=) single nucleotide variant not provided [RCV003087489] Chr7:45662205 [GRCh38]
Chr7:45701804 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.1830C>T (p.Thr610=) single nucleotide variant not provided [RCV002650710] Chr7:45678195 [GRCh38]
Chr7:45717794 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.2273G>T (p.Gly758Val) single nucleotide variant Inborn genetic diseases [RCV002747352] Chr7:45686161 [GRCh38]
Chr7:45725760 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.1873C>T (p.Leu625Phe) single nucleotide variant Inborn genetic diseases [RCV004073241]|not provided [RCV003093048] Chr7:45678238 [GRCh38]
Chr7:45717837 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.2360C>T (p.Pro787Leu) single nucleotide variant not provided [RCV002654213] Chr7:45686579 [GRCh38]
Chr7:45726178 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.1606C>T (p.Arg536Trp) single nucleotide variant not provided [RCV002583444] Chr7:45677869 [GRCh38]
Chr7:45717468 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.823G>A (p.Val275Ile) single nucleotide variant not provided [RCV002582548] Chr7:45610412 [GRCh38]
Chr7:45650011 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.300C>T (p.Val100=) single nucleotide variant not provided [RCV002586146] Chr7:45574843 [GRCh38]
Chr7:45614442 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.475G>T (p.Ala159Ser) single nucleotide variant Inborn genetic diseases [RCV003194176] Chr7:45575018 [GRCh38]
Chr7:45614617 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.909-19G>A single nucleotide variant not provided [RCV003543397] Chr7:45622613 [GRCh38]
Chr7:45662212 [GRCh37]
Chr7:7p12.3		 likely benign
GRCh37/hg19 7p14.1-12.3(chr7:42516660-46202495)x1 copy number loss not provided [RCV003482956] Chr7:42516660..46202495 [GRCh37]
Chr7:7p14.1-12.3		 pathogenic
NM_021116.4(ADCY1):c.3215G>A (p.Arg1072Gln) single nucleotide variant not provided [RCV003740196] Chr7:45713850 [GRCh38]
Chr7:45753449 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.1098C>T (p.Asp366=) single nucleotide variant not provided [RCV003545748] Chr7:45648747 [GRCh38]
Chr7:45688346 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.2355C>T (p.Tyr785=) single nucleotide variant ADCY1-related disorder [RCV003893476]|not provided [RCV003831449] Chr7:45686574 [GRCh38]
Chr7:45726173 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.1338G>A (p.Ala446=) single nucleotide variant not provided [RCV003828231] Chr7:45660072 [GRCh38]
Chr7:45699671 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.1984-11T>A single nucleotide variant not provided [RCV003826047] Chr7:45684968 [GRCh38]
Chr7:45724567 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.2818-12G>T single nucleotide variant not provided [RCV003827534] Chr7:45708338 [GRCh38]
Chr7:45747937 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.2793G>A (p.Gly931=) single nucleotide variant not provided [RCV003691106] Chr7:45704592 [GRCh38]
Chr7:45744191 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.2822A>G (p.Lys941Arg) single nucleotide variant not provided [RCV003545938] Chr7:45708354 [GRCh38]
Chr7:45747953 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.423G>C (p.Ala141=) single nucleotide variant not provided [RCV003880818] Chr7:45574966 [GRCh38]
Chr7:45614565 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.3028G>T (p.Asp1010Tyr) single nucleotide variant not provided [RCV003694143] Chr7:45710623 [GRCh38]
Chr7:45750222 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.1148+12G>A single nucleotide variant not provided [RCV003825115] Chr7:45648809 [GRCh38]
Chr7:45688408 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.1234C>A (p.Arg412Ser) single nucleotide variant not specified [RCV003489670] Chr7:45657812 [GRCh38]
Chr7:45697411 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.2526G>A (p.Pro842=) single nucleotide variant not provided [RCV003573653] Chr7:45703447 [GRCh38]
Chr7:45743046 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.3256C>T (p.Arg1086Cys) single nucleotide variant not provided [RCV003546038] Chr7:45713891 [GRCh38]
Chr7:45753490 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.3251G>A (p.Gly1084Asp) single nucleotide variant not provided [RCV003826847] Chr7:45713886 [GRCh38]
Chr7:45753485 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.669T>C (p.Gly223=) single nucleotide variant not provided [RCV003836084] Chr7:45592788 [GRCh38]
Chr7:45632387 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.2718+15C>T single nucleotide variant not provided [RCV003834030] Chr7:45703761 [GRCh38]
Chr7:45743360 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.1666G>A (p.Val556Ile) single nucleotide variant not provided [RCV003834100] Chr7:45677929 [GRCh38]
Chr7:45717528 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.1692C>T (p.Arg564=) single nucleotide variant not provided [RCV003850045] Chr7:45677955 [GRCh38]
Chr7:45717554 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.1131C>T (p.Asp377=) single nucleotide variant not provided [RCV003718106] Chr7:45648780 [GRCh38]
Chr7:45688379 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.1450A>G (p.Ile484Val) single nucleotide variant not provided [RCV003668702] Chr7:45662059 [GRCh38]
Chr7:45701658 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.142C>T (p.Leu48=) single nucleotide variant not provided [RCV003839874] Chr7:45574685 [GRCh38]
Chr7:45614284 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.2016C>A (p.Arg672=) single nucleotide variant not provided [RCV003717847] Chr7:45685011 [GRCh38]
Chr7:45724610 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.553A>G (p.Ile185Val) single nucleotide variant not provided [RCV003855126] Chr7:45575096 [GRCh38]
Chr7:45614695 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.2132C>T (p.Ser711Leu) single nucleotide variant not provided [RCV003838435] Chr7:45686020 [GRCh38]
Chr7:45725619 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.27C>A (p.Gly9=) single nucleotide variant not provided [RCV003817664] Chr7:45574570 [GRCh38]
Chr7:45614169 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.387C>T (p.Phe129=) single nucleotide variant not provided [RCV003815198] Chr7:45574930 [GRCh38]
Chr7:45614529 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.2718+12C>T single nucleotide variant not provided [RCV003811530] Chr7:45703758 [GRCh38]
Chr7:45743357 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.251C>G (p.Pro84Arg) single nucleotide variant not provided [RCV003816659] Chr7:45574794 [GRCh38]
Chr7:45614393 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.2817+15G>A single nucleotide variant not provided [RCV003701573] Chr7:45704631 [GRCh38]
Chr7:45744230 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.1921C>T (p.Leu641=) single nucleotide variant not provided [RCV003726439] Chr7:45679731 [GRCh38]
Chr7:45719330 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.217G>A (p.Gly73Ser) single nucleotide variant not provided [RCV003816319] Chr7:45574760 [GRCh38]
Chr7:45614359 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.89G>C (p.Arg30Pro) single nucleotide variant not provided [RCV003816094] Chr7:45574632 [GRCh38]
Chr7:45614231 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.1450-17C>T single nucleotide variant not provided [RCV003671049] Chr7:45662042 [GRCh38]
Chr7:45701641 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.1308-9C>T single nucleotide variant not provided [RCV003701556] Chr7:45660033 [GRCh38]
Chr7:45699632 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.3312C>T (p.His1104=) single nucleotide variant not provided [RCV003560798] Chr7:45713947 [GRCh38]
Chr7:45753546 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.20GCGGAGGCGGCG[3] (p.Gly14_Ala15insGlyGlyGlyGly) microsatellite not provided [RCV003821381] Chr7:45574559..45574560 [GRCh38]
Chr7:45614158..45614159 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.1572C>T (p.Phe524=) single nucleotide variant not provided [RCV003677105] Chr7:45662181 [GRCh38]
Chr7:45701780 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.510C>T (p.Thr170=) single nucleotide variant not provided [RCV003860483] Chr7:45575053 [GRCh38]
Chr7:45614652 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.351C>T (p.Pro117=) single nucleotide variant not provided [RCV003847340] Chr7:45574894 [GRCh38]
Chr7:45614493 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.2449G>T (p.Ala817Ser) single nucleotide variant not provided [RCV003867313] Chr7:45686668 [GRCh38]
Chr7:45726267 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.2418C>T (p.Asp806=) single nucleotide variant not provided [RCV003710280] Chr7:45686637 [GRCh38]
Chr7:45726236 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.1693G>A (p.Val565Ile) single nucleotide variant not provided [RCV003681237] Chr7:45677956 [GRCh38]
Chr7:45717555 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.1203G>T (p.Thr401=) single nucleotide variant not provided [RCV003720254] Chr7:45657781 [GRCh38]
Chr7:45697380 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.3214C>G (p.Arg1072Gly) single nucleotide variant not provided [RCV003720255] Chr7:45713849 [GRCh38]
Chr7:45753448 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.2818-19C>T single nucleotide variant not provided [RCV003868734] Chr7:45708331 [GRCh38]
Chr7:45747930 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.455C>A (p.Ala152Asp) single nucleotide variant not provided [RCV003718719] Chr7:45574998 [GRCh38]
Chr7:45614597 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.3099C>T (p.Tyr1033=) single nucleotide variant not provided [RCV003557268] Chr7:45713734 [GRCh38]
Chr7:45753333 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.278G>A (p.Gly93Asp) single nucleotide variant not provided [RCV003723082] Chr7:45574821 [GRCh38]
Chr7:45614420 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.1023G>A (p.Glu341=) single nucleotide variant ADCY1-related disorder [RCV003939868] Chr7:45648672 [GRCh38]
Chr7:45688271 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.3239C>G (p.Ala1080Gly) single nucleotide variant not provided [RCV003679713] Chr7:45713874 [GRCh38]
Chr7:45753473 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.1329G>A (p.Thr443=) single nucleotide variant not provided [RCV003820636] Chr7:45660063 [GRCh38]
Chr7:45699662 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.2071G>A (p.Val691Met) single nucleotide variant not provided [RCV003860707] Chr7:45685066 [GRCh38]
Chr7:45724665 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.798C>T (p.Leu266=) single nucleotide variant not provided [RCV003674722] Chr7:45610387 [GRCh38]
Chr7:45649986 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.1990C>T (p.Pro664Ser) single nucleotide variant not provided [RCV003858122] Chr7:45684985 [GRCh38]
Chr7:45724584 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.1449+19C>T single nucleotide variant not provided [RCV003858310] Chr7:45660202 [GRCh38]
Chr7:45699801 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.231G>A (p.Leu77=) single nucleotide variant not provided [RCV003821317] Chr7:45574774 [GRCh38]
Chr7:45614373 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.49G>A (p.Glu17Lys) single nucleotide variant not provided [RCV003860052] Chr7:45574592 [GRCh38]
Chr7:45614191 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.440G>C (p.Arg147Pro) single nucleotide variant Inborn genetic diseases [RCV004367997] Chr7:45574983 [GRCh38]
Chr7:45614582 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.464G>T (p.Gly155Val) single nucleotide variant Inborn genetic diseases [RCV004368003] Chr7:45575007 [GRCh38]
Chr7:45614606 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.469G>A (p.Ala157Thr) single nucleotide variant Inborn genetic diseases [RCV003291848] Chr7:45575012 [GRCh38]
Chr7:45614611 [GRCh37]
Chr7:7p12.3		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p12.3(chr7:45603629-45614476)x1 copy number loss not provided [RCV000746680] Chr7:45603629..45614476 [GRCh37]
Chr7:7p12.3		 benign
GRCh37/hg19 7p12.3(chr7:45613779-45614289)x1 copy number loss not provided [RCV000746681] Chr7:45613779..45614289 [GRCh37]
Chr7:7p12.3		 benign
GRCh37/hg19 7p12.3(chr7:45613779-45614376)x1 copy number loss not provided [RCV000746682] Chr7:45613779..45614376 [GRCh37]
Chr7:7p12.3		 benign
GRCh37/hg19 7p12.3(chr7:45613779-45614442)x1 copy number loss not provided [RCV000746683] Chr7:45613779..45614442 [GRCh37]
Chr7:7p12.3		 benign
NM_021116.4(ADCY1):c.2818G>A (p.Ala940Thr) single nucleotide variant ADCY1-related disorder [RCV003908117]|not provided [RCV000991508]|not specified [RCV000825656] Chr7:45708350 [GRCh38]
Chr7:45747949 [GRCh37]
Chr7:7p12.3		 benign
NM_021116.4(ADCY1):c.1251C>T (p.Asp417=) single nucleotide variant not provided [RCV000991504] Chr7:45657829 [GRCh38]
Chr7:45697428 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.2718+193C>G single nucleotide variant not provided [RCV001688078] Chr7:45703939 [GRCh38]
Chr7:45743538 [GRCh37]
Chr7:7p12.3		 benign
NM_021116.4(ADCY1):c.790-85G>A single nucleotide variant not provided [RCV001757654] Chr7:45610294 [GRCh38]
Chr7:45649893 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.1899-219G>T single nucleotide variant not provided [RCV001757655] Chr7:45679490 [GRCh38]
Chr7:45719089 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.415C>T (p.Pro139Ser) single nucleotide variant not provided [RCV002014740] Chr7:45574958 [GRCh38]
Chr7:45614557 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.1351G>C (p.Asp451His) single nucleotide variant not provided [RCV001918478] Chr7:45660085 [GRCh38]
Chr7:45699684 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.3058-19_3058-16del microsatellite not provided [RCV002208604] Chr7:45713670..45713673 [GRCh38]
Chr7:45753269..45753272 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.1560C>T (p.Ala520=) single nucleotide variant not provided [RCV002208477] Chr7:45662169 [GRCh38]
Chr7:45701768 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.790-11C>G single nucleotide variant not provided [RCV002626969] Chr7:45610368 [GRCh38]
Chr7:45649967 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.2471A>C (p.Glu824Ala) single nucleotide variant Inborn genetic diseases [RCV002805130] Chr7:45703392 [GRCh38]
Chr7:45742991 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.1870G>A (p.Gly624Ser) single nucleotide variant Inborn genetic diseases [RCV002940722] Chr7:45678235 [GRCh38]
Chr7:45717834 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.2282C>T (p.Thr761Met) single nucleotide variant Inborn genetic diseases [RCV004614451]|not provided [RCV003575552] Chr7:45686170 [GRCh38]
Chr7:45725769 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.20GCGGAGGCGGCG[1] (p.Gly11_Gly14del) microsatellite not provided [RCV003816765] Chr7:45574560..45574571 [GRCh38]
Chr7:45614159..45614170 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.1374C>T (p.Tyr458=) single nucleotide variant ADCY1-related disorder [RCV003911428] Chr7:45660108 [GRCh38]
Chr7:45699707 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.1605+2165C>T single nucleotide variant ADCY1-related disorder [RCV003961765] Chr7:45664379 [GRCh38]
Chr7:45703978 [GRCh37]
Chr7:7p12.3		 likely benign
NM_021116.4(ADCY1):c.1209G>T (p.Arg403Ser) single nucleotide variant Inborn genetic diseases [RCV004375829] Chr7:45657787 [GRCh38]
Chr7:45697386 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.2039T>C (p.Val680Ala) single nucleotide variant Inborn genetic diseases [RCV004375856] Chr7:45685034 [GRCh38]
Chr7:45724633 [GRCh37]
Chr7:7p12.3		 uncertain significance
NC_000007.14:g.45043702_46521017delins[AGAAGGAAATTT;45310743_46521014;45043709_45310738inv] indel Cerebral cavernous malformation 2 [RCV003988183] Chr7:45043702..46521017 [GRCh38]
Chr7:7p13-12.3		 pathogenic
NC_000007.13:g.(?_45662211)_(45662362_?)del deletion not provided [RCV004578565] Chr7:45662211..45662362 [GRCh37]
Chr7:7p12.3		 uncertain significance
NC_000007.13:g.(?_43810758)_(45977174_?)del deletion not provided [RCV004578545] Chr7:43810758..45977174 [GRCh37]
Chr7:7p13-12.3		 uncertain significance
NM_021116.4(ADCY1):c.1901G>A (p.Ser634Asn) single nucleotide variant Inborn genetic diseases [RCV004611012] Chr7:45679711 [GRCh38]
Chr7:45719310 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.2914G>A (p.Asp972Asn) single nucleotide variant Inborn genetic diseases [RCV004611028] Chr7:45708446 [GRCh38]
Chr7:45748045 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.2471A>G (p.Glu824Gly) single nucleotide variant Inborn genetic diseases [RCV004967879] Chr7:45703392 [GRCh38]
Chr7:45742991 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.59G>T (p.Gly20Val) single nucleotide variant Inborn genetic diseases [RCV004974009] Chr7:45574602 [GRCh38]
Chr7:45614201 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.400G>T (p.Ala134Ser) single nucleotide variant Inborn genetic diseases [RCV004974012] Chr7:45574943 [GRCh38]
Chr7:45614542 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.1751A>G (p.Asp584Gly) single nucleotide variant Inborn genetic diseases [RCV004974016] Chr7:45678014 [GRCh38]
Chr7:45717613 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.1909G>A (p.Val637Ile) single nucleotide variant Inborn genetic diseases [RCV004974006] Chr7:45679719 [GRCh38]
Chr7:45719318 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.1510G>C (p.Val504Leu) single nucleotide variant Inborn genetic diseases [RCV004974008] Chr7:45662119 [GRCh38]
Chr7:45701718 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.67C>T (p.Arg23Trp) single nucleotide variant Inborn genetic diseases [RCV004974010] Chr7:45574610 [GRCh38]
Chr7:45614209 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.3046G>A (p.Gly1016Ser) single nucleotide variant Inborn genetic diseases [RCV004974011] Chr7:45710641 [GRCh38]
Chr7:45750240 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.2647G>A (p.Glu883Lys) single nucleotide variant Inborn genetic diseases [RCV004974013] Chr7:45703675 [GRCh38]
Chr7:45743274 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.2837C>T (p.Ser946Phe) single nucleotide variant Inborn genetic diseases [RCV004974005] Chr7:45708369 [GRCh38]
Chr7:45747968 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.434C>T (p.Pro145Leu) single nucleotide variant Inborn genetic diseases [RCV004974007] Chr7:45574977 [GRCh38]
Chr7:45614576 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.2350A>G (p.Ser784Gly) single nucleotide variant Inborn genetic diseases [RCV004974015] Chr7:45686569 [GRCh38]
Chr7:45726168 [GRCh37]
Chr7:7p12.3		 uncertain significance
NM_021116.4(ADCY1):c.644G>T (p.Gly215Val) single nucleotide variant Inborn genetic diseases [RCV004368013] Chr7:45592763 [GRCh38]
Chr7:45632362 [GRCh37]
Chr7:7p12.3		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:5125
Count of miRNA genes:1403
Interacting mature miRNAs:1891
Transcripts:ENST00000297323, ENST00000432715, ENST00000468353
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
1558711BP56_HBlood pressure QTL 56 (human)2.240.000002Blood pressuresystolic73634937162349371Human
597045591GWAS1141665_Hsoluble triggering receptor expressed on myeloid cells 2 measurement QTL GWAS1141665 (human)0.000008soluble triggering receptor expressed on myeloid cells 2 measurement74565573245655733Human
597038421GWAS1134495_Hgut microbiome measurement QTL GWAS1134495 (human)0.000003gut microbiome measurement74565421245654213Human
597136176GWAS1232250_Hdiastolic blood pressure, systolic blood pressure QTL GWAS1232250 (human)4e-09diastolic blood pressure, systolic blood pressuresystolic blood pressure (CMO:0000004)74562418145624182Human
597074078GWAS1170152_Hbipolar disorder, schizophrenia, response to lithium ion QTL GWAS1170152 (human)3e-08bipolar disorder, schizophrenia, response to lithium ion74560725345607254Human
1559132SAPOB3_HSerum apolipoprotein B level QTL 3 (human)20.4Apolipoprotein levelapolipoprotein B73289107458891074Human
597050557GWAS1146631_HDuchenne muscular dystrophy, disease progression measurement QTL GWAS1146631 (human)0.000001Duchenne muscular dystrophy, disease progression measurementdisease progression measurement (CMO:0001110)74559302345593024Human
597309974GWAS1406048_Htrait in response to platinum QTL GWAS1406048 (human)0.000001trait in response to platinum74565977045659771Human
597093467GWAS1189541_Hschizophrenia QTL GWAS1189541 (human)0.000009schizophrenia74560725345607254Human
2289453BW297_HBody weight QTL 297 (human)3.83Body weightbody mass index72334946449349464Human
597240278GWAS1336352_HIGF-1 measurement QTL GWAS1336352 (human)1e-15IGF-1 measurementblood insulin-like growth factor 1 level (CMO:0001297)74562418145624182Human
597050465GWAS1146539_HDuchenne muscular dystrophy, disease progression measurement QTL GWAS1146539 (human)0.000004Duchenne muscular dystrophy, disease progression measurementdisease progression measurement (CMO:0001110)74559302345593024Human
597316674GWAS1412748_Hdiastolic blood pressure, systolic blood pressure QTL GWAS1412748 (human)0.0000004diastolic blood pressure, systolic blood pressuresystolic blood pressure (CMO:0000004)74562418145624182Human
597257730GWAS1353804_Haminoadipic acid measurement QTL GWAS1353804 (human)0.000002amino acid metabolism trait (VT:0010631)74557527645575277Human
597342214GWAS1438288_HIGF-1 measurement, IGFBP-3 measurement QTL GWAS1438288 (human)4e-12IGF-1 measurement, IGFBP-3 measurementblood insulin-like growth factor 1 level (CMO:0001297)74571739845717399Human
2302781MAMTS16_HMammary tumor susceptibility QTL 16 (human)0.033Mammary tumor susceptibility73634937162349371Human

Markers in Region
WI-18399  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37745,716,563 - 45,716,708UniSTSGRCh37
Build 36745,683,088 - 45,683,233RGDNCBI36
Celera745,815,478 - 45,815,623RGD
Cytogenetic Map7p13-p12UniSTS
HuRef745,600,516 - 45,600,661UniSTS
CRA_TCAGchr7v2745,755,892 - 45,756,037UniSTS
GeneMap99-GB4 RH Map7203.57UniSTS
Whitehead-RH Map7151.1UniSTS
NCBI RH Map7650.2UniSTS
AFM158xb12  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37745,628,289 - 45,628,533UniSTSGRCh37
Build 36745,594,814 - 45,595,058RGDNCBI36
Celera745,727,150 - 45,727,392RGD
Cytogenetic Map7p13-p12UniSTS
HuRef745,511,753 - 45,511,995UniSTS
CRA_TCAGchr7v2745,667,509 - 45,667,751UniSTS
Whitehead-RH Map7157.9UniSTS
Whitehead-YAC Contig Map7 UniSTS
RH99222  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37745,703,894 - 45,704,070UniSTSGRCh37
Build 36745,670,419 - 45,670,595RGDNCBI36
Celera745,802,831 - 45,803,007RGD
Cytogenetic Map7p13-p12UniSTS
HuRef745,587,869 - 45,588,045UniSTS
CRA_TCAGchr7v2745,743,245 - 45,743,421UniSTS
GeneMap99-GB4 RH Map7216.45UniSTS
RH80785  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37745,753,582 - 45,753,799UniSTSGRCh37
Build 36745,720,107 - 45,720,324RGDNCBI36
Celera745,852,495 - 45,852,712RGD
Cytogenetic Map7p13-p12UniSTS
HuRef745,637,534 - 45,637,751UniSTS
CRA_TCAGchr7v2745,792,913 - 45,793,130UniSTS
GeneMap99-GB4 RH Map7218.1UniSTS
SHGC-147274  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37745,641,337 - 45,641,633UniSTSGRCh37
Build 36745,607,862 - 45,608,158RGDNCBI36
Celera745,740,196 - 45,740,492RGD
Cytogenetic Map7p13-p12UniSTS
HuRef745,524,799 - 45,525,095UniSTS
CRA_TCAGchr7v2745,680,555 - 45,680,851UniSTS
TNG Radiation Hybrid Map722514.0UniSTS
SHGC-148462  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37745,635,445 - 45,635,787UniSTSGRCh37
Build 36745,601,970 - 45,602,312RGDNCBI36
Celera745,734,304 - 45,734,646RGD
Cytogenetic Map7p13-p12UniSTS
HuRef745,518,907 - 45,519,249UniSTS
CRA_TCAGchr7v2745,674,663 - 45,675,005UniSTS
TNG Radiation Hybrid Map722506.0UniSTS
ADCY1_682  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37745,757,058 - 45,757,898UniSTSGRCh37
Build 36745,723,583 - 45,724,423RGDNCBI36
Celera745,855,971 - 45,856,811RGD
HuRef745,641,010 - 45,641,851UniSTS
CRA_TCAGchr7v2745,796,389 - 45,797,229UniSTS
G19797  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37745,762,420 - 45,762,679UniSTSGRCh37
Build 36745,728,945 - 45,729,204RGDNCBI36
Celera745,861,333 - 45,861,592RGD
Cytogenetic Map7p13-p12UniSTS
HuRef745,646,373 - 45,646,632UniSTS
CRA_TCAGchr7v2745,801,751 - 45,802,010UniSTS
A001Y39  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37745,762,420 - 45,762,679UniSTSGRCh37
Build 36745,728,945 - 45,729,204RGDNCBI36
Celera745,861,333 - 45,861,592RGD
Cytogenetic Map7p13-p12UniSTS
HuRef745,646,373 - 45,646,632UniSTS
CRA_TCAGchr7v2745,801,751 - 45,802,010UniSTS
GeneMap99-GB4 RH Map7208.68UniSTS
STS-R59992  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37745,759,666 - 45,759,799UniSTSGRCh37
Build 36745,726,191 - 45,726,324RGDNCBI36
Celera745,858,579 - 45,858,712RGD
Cytogenetic Map7p13-p12UniSTS
HuRef745,643,619 - 45,643,752UniSTS
CRA_TCAGchr7v2745,798,997 - 45,799,130UniSTS
GeneMap99-GB4 RH Map7216.75UniSTS
WI-11127  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37745,756,835 - 45,757,012UniSTSGRCh37
Build 36745,723,360 - 45,723,537RGDNCBI36
Celera745,855,748 - 45,855,925RGD
Cytogenetic Map7p13-p12UniSTS
HuRef745,640,787 - 45,640,964UniSTS
CRA_TCAGchr7v2745,796,166 - 45,796,343UniSTS
GeneMap99-GB4 RH Map7208.63UniSTS
Whitehead-RH Map7144.9UniSTS
NCBI RH Map7647.8UniSTS
D7S536E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37745,757,545 - 45,757,775UniSTSGRCh37
GRCh37745,757,451 - 45,757,560UniSTSGRCh37
Build 36745,724,070 - 45,724,300RGDNCBI36
Celera745,856,364 - 45,856,473UniSTS
Celera745,856,458 - 45,856,688RGD
Cytogenetic Map7p13-p12UniSTS
HuRef745,641,403 - 45,641,512UniSTS
HuRef745,641,497 - 45,641,728UniSTS
CRA_TCAGchr7v2745,796,876 - 45,797,106UniSTS
CRA_TCAGchr7v2745,796,782 - 45,796,891UniSTS
Stanford-G3 RH Map72050.0UniSTS
NCBI RH Map7665.6UniSTS
GeneMap99-G3 RH Map72050.0UniSTS
SHGC-57854  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37745,703,902 - 45,704,071UniSTSGRCh37
Build 36745,670,427 - 45,670,596RGDNCBI36
Celera745,802,839 - 45,803,008RGD
Cytogenetic Map7p13-p12UniSTS
HuRef745,587,877 - 45,588,046UniSTS
CRA_TCAGchr7v2745,743,253 - 45,743,422UniSTS
TNG Radiation Hybrid Map722523.0UniSTS
STS-Z41290  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37745,756,898 - 45,756,972UniSTSGRCh37
Build 36745,723,423 - 45,723,497RGDNCBI36
Celera745,855,811 - 45,855,885RGD
Cytogenetic Map7p13-p12UniSTS
HuRef745,640,850 - 45,640,924UniSTS
CRA_TCAGchr7v2745,796,229 - 45,796,303UniSTS
GeneMap99-GB4 RH Map7202.96UniSTS
NCBI RH Map7650.2UniSTS
A008R05  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37745,755,510 - 45,755,706UniSTSGRCh37
Build 36745,722,035 - 45,722,231RGDNCBI36
Celera745,854,423 - 45,854,619RGD
Cytogenetic Map7p13-p12UniSTS
HuRef745,639,462 - 45,639,658UniSTS
CRA_TCAGchr7v2745,794,841 - 45,795,037UniSTS
GeneMap99-GB4 RH Map7208.79UniSTS
D1S1423  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p22.3-p21.32UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map10p14-p13UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map11q23-q24UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map22cen-q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map4q28UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map1q41-q42UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map11q24.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3q13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map9p21.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq27.2UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map20q11.21-q11.23UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map15q26UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p15.1-p14UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map7q32.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21-q24UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map8q24.12UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map6q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map20pter-p12UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map14q22.2UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p22-p21UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map3p12.3UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map3q11.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map20q13.33UniSTS
D16S325  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map10q11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3q13.32UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map2p13-p12UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map8q21.13UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map1p36.3-p34.3UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map19qterUniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map19q13.4UniSTS
D7S536E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7p13-p12UniSTS
Stanford-G3 RH Map72050.0UniSTS
NCBI RH Map7665.6UniSTS
GeneMap99-G3 RH Map72050.0UniSTS


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
1204 2389 2788 2240 4966 1716 2318 4 614 1753 455 2267 7047 6277 43 3730 832 1727 1593 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_034198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001281768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005249584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005249585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC069008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC091439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF086306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF497515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL707720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW956248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX753107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU181704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L05500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000297323   ⟹   ENSP00000297323
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl745,574,368 - 45,723,116 (+)Ensembl
Ensembl Acc Id: ENST00000432715   ⟹   ENSP00000392721
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl745,574,140 - 45,664,672 (+)Ensembl
Ensembl Acc Id: ENST00000468353
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl745,684,385 - 45,686,040 (+)Ensembl
Ensembl Acc Id: ENST00000621543   ⟹   ENSP00000479770
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl745,574,885 - 45,664,671 (+)Ensembl
Ensembl Acc Id: ENST00000646653
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl745,648,709 - 45,680,642 (+)Ensembl
RefSeq Acc Id: NM_001281768   ⟹   NP_001268697
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38745,574,140 - 45,664,680 (+)NCBI
HuRef745,497,881 - 45,646,668 (+)NCBI
CHM1_1745,617,704 - 45,708,529 (+)NCBI
T2T-CHM13v2.0745,734,849 - 45,826,438 (+)NCBI
Sequence:
RefSeq Acc Id: NM_021116   ⟹   NP_066939
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38745,574,368 - 45,723,116 (+)NCBI
GRCh37745,614,125 - 45,762,715 (+)NCBI
Build 36745,580,646 - 45,729,237 (+)NCBI Archive
HuRef745,497,881 - 45,646,668 (+)ENTREZGENE
CHM1_1745,617,991 - 45,766,937 (+)NCBI
T2T-CHM13v2.0745,735,077 - 45,884,850 (+)NCBI
CRA_TCAGchr7v2745,653,346 - 45,802,046 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_005249584   ⟹   XP_005249641
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38745,574,368 - 45,723,116 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005249585   ⟹   XP_005249642
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38745,574,368 - 45,664,680 (+)NCBI
GRCh37745,614,125 - 45,762,715 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054357104   ⟹   XP_054213079
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0745,735,077 - 45,884,850 (+)NCBI
RefSeq Acc Id: XM_054357105   ⟹   XP_054213080
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0745,735,077 - 45,826,438 (+)NCBI
RefSeq Acc Id: NP_066939   ⟸   NM_021116
- Peptide Label: isoform 1
- UniProtKB: A4D2L8 (UniProtKB/Swiss-Prot),   Q75MI1 (UniProtKB/Swiss-Prot),   Q08828 (UniProtKB/Swiss-Prot),   Q59FG4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005249641   ⟸   XM_005249584
- Peptide Label: isoform X1
- UniProtKB: Q59FG4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005249642   ⟸   XM_005249585
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001268697   ⟸   NM_001281768
- Peptide Label: isoform 2
- UniProtKB: C9J1J0 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000479770   ⟸   ENST00000621543
Ensembl Acc Id: ENSP00000297323   ⟸   ENST00000297323
Ensembl Acc Id: ENSP00000392721   ⟸   ENST00000432715
RefSeq Acc Id: XP_054213079   ⟸   XM_054357104
- Peptide Label: isoform X1
- UniProtKB: Q59FG4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213080   ⟸   XM_054357105
- Peptide Label: isoform X2
Protein Domains
Adenylate cyclase N-terminal   Guanylate cyclase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q08828-F1-model_v2 AlphaFold Q08828 1-1119 view protein structure

Promoters
RGD ID:7210543
Promoter ID:EPDNEW_H11017
Type:initiation region
Name:ADCY1_1
Description:adenylate cyclase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38745,574,434 - 45,574,494EPDNEW
RGD ID:6805211
Promoter ID:HG_KWN:57292
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000340055,   OTTHUMT00000340056
Position:
Human AssemblyChrPosition (strand)Source
Build 36745,580,166 - 45,580,666 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:232 AgrOrtholog
COSMIC ADCY1 COSMIC
Ensembl Genes ENSG00000164742 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000297323 ENTREZGENE
  ENST00000297323.12 UniProtKB/Swiss-Prot
  ENST00000432715 ENTREZGENE
  ENST00000432715.5 UniProtKB/TrEMBL
  ENST00000621543.1 UniProtKB/TrEMBL
Gene3D-CATH 3.30.70.1230 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000164742 GTEx
HGNC ID HGNC:232 ENTREZGENE
Human Proteome Map ADCY1 Human Proteome Map
InterPro A/G_cyclase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  A/G_cyclase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AC_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Adcy UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucleotide_cyclase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:107 UniProtKB/Swiss-Prot
NCBI Gene 107 ENTREZGENE
OMIM 103072 OMIM
PANTHER ADENYLATE CYCLASE TYPE 1 UniProtKB/Swiss-Prot
  ADENYLATE CYCLASE TYPE 1 UniProtKB/Swiss-Prot
  ADENYLATE CYCLASE TYPE 1 UniProtKB/TrEMBL
  ADENYLATE CYCLASE TYPE 1 UniProtKB/TrEMBL
Pfam AC_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Guanylate_cyc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24560 PharmGKB
PIRSF Ade_cyc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE GUANYLATE_CYCLASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GUANYLATE_CYCLASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CYCc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF55073 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A4D2L8 ENTREZGENE
  ADCY1_HUMAN UniProtKB/Swiss-Prot
  C9J1J0 ENTREZGENE, UniProtKB/TrEMBL
  L0R809_HUMAN UniProtKB/TrEMBL
  Q08828 ENTREZGENE
  Q59FG4 ENTREZGENE, UniProtKB/TrEMBL
  Q75MI1 ENTREZGENE
  Q8NFM5_HUMAN UniProtKB/TrEMBL
UniProt Secondary A4D2L8 UniProtKB/Swiss-Prot
  Q75MI1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-11-22 ADCY1  adenylate cyclase 1  DFNB44  deafness, autosomal recessive 44  Data merged from RGD:1346013 737654 PROVISIONAL
2016-06-28 ADCY1  adenylate cyclase 1    adenylate cyclase 1 (brain)  Symbol and/or name change 5135510 APPROVED