CASQ1 (calsequestrin 1) - Rat Genome Database

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Gene: CASQ1 (calsequestrin 1) Homo sapiens
Analyze
Symbol: CASQ1
Name: calsequestrin 1
RGD ID: 1344349
HGNC Page HGNC:1512
Description: Enables calcium ion binding activity and identical protein binding activity. Involved in protein polymerization and regulation of calcium ion transport. Located in endoplasmic reticulum. Implicated in type 2 diabetes mellitus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: calmitin; calmitine; calsequestrin 1 (fast-twitch, skeletal muscle); calsequestrin, skeletal muscle isoform; calsequestrin-1; CASQ; CSQ1; PDIB1; VMCQA
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
GRCh381160,190,575 - 160,201,886 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1160,190,575 - 160,201,886 (+)EnsemblGRCh38hg38GRCh38
GRCh371160,160,365 - 160,171,676 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361158,426,989 - 158,438,300 (+)NCBINCBI36Build 36hg18NCBI36
Build 341156,973,468 - 156,984,752NCBI
Celera1133,229,049 - 133,240,436 (+)NCBICelera
Cytogenetic Map1q23.2NCBI
HuRef1131,517,001 - 131,528,390 (+)NCBIHuRef
CHM1_11161,555,636 - 161,567,025 (+)NCBICHM1_1
T2T-CHM13v2.01159,327,652 - 159,338,962 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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

References - curated
# Reference Title Reference Citation
1. Anesthetic- and heat-induced sudden death in calsequestrin-1-knockout mice. Dainese M, etal., FASEB J. 2009 Jun;23(6):1710-20. doi: 10.1096/fj.08-121335. Epub 2009 Feb 23.
2. Calsquestrin 1 (CASQ1) gene polymorphisms under chromosome 1q21 linkage peak are associated with type 2 diabetes in Northern European Caucasians. Das SK, etal., Diabetes. 2004 Dec;53(12):3300-6.
3. Polymorphism in the calsequestrin 1 (CASQ1) gene on chromosome 1q21 is associated with type 2 diabetes in the old order Amish. Fu M, etal., Diabetes. 2004 Dec;53(12):3292-9.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. Type 2 diabetes susceptibility genes on chromosome 1q21-24. Hasstedt SJ, etal., Ann Hum Genet. 2008 Mar;72(Pt 2):163-9.
6. Calsequestrin expression and calcium binding is increased in streptozotocin-induced diabetic rat skeletal muscle though not in cardiac muscle. Howarth FC, etal., Pflugers Arch. 2002 May;444(1-2):52-8. Epub 2002 Feb 7.
7. Membrane associated Ca2+ buffers in the heart. Lee D and Michalak M, BMB Rep. 2010 Mar;43(3):151-7.
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
10. Studies of association of the CASQ1 rs2275703 polymorphism in relation to type 2 diabetes and related quantitative metabolic traits among 7,088 Danish whites. Sparso T, etal., Mol Genet Metab. 2007 Nov;92(3):278-82. Epub 2007 Aug 2.
Additional References at PubMed
PMID:2321095   PMID:7599203   PMID:7666833   PMID:7945294   PMID:8406504   PMID:8660374   PMID:9125222   PMID:12477932   PMID:15489334   PMID:16344560   PMID:17009399   PMID:18452871  
PMID:20682687   PMID:20833797   PMID:21873635   PMID:22060633   PMID:22337878   PMID:23460944   PMID:23792176   PMID:24127619   PMID:24325401   PMID:24887214   PMID:25116801   PMID:26136523  
PMID:26416891   PMID:27185316   PMID:27196359   PMID:28330616   PMID:28895244   PMID:29987050   PMID:30258016   PMID:32296183   PMID:33600773   PMID:34299191  


Genomics

Comparative Map Data
CASQ1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381160,190,575 - 160,201,886 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1160,190,575 - 160,201,886 (+)EnsemblGRCh38hg38GRCh38
GRCh371160,160,365 - 160,171,676 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361158,426,989 - 158,438,300 (+)NCBINCBI36Build 36hg18NCBI36
Build 341156,973,468 - 156,984,752NCBI
Celera1133,229,049 - 133,240,436 (+)NCBICelera
Cytogenetic Map1q23.2NCBI
HuRef1131,517,001 - 131,528,390 (+)NCBIHuRef
CHM1_11161,555,636 - 161,567,025 (+)NCBICHM1_1
T2T-CHM13v2.01159,327,652 - 159,338,962 (+)NCBIT2T-CHM13v2.0
Casq1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391172,037,461 - 172,047,462 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1172,037,461 - 172,047,435 (-)EnsemblGRCm39 Ensembl
GRCm381172,209,894 - 172,219,895 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1172,209,894 - 172,219,868 (-)EnsemblGRCm38mm10GRCm38
MGSCv371174,140,025 - 174,150,026 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361174,047,013 - 174,056,514 (-)NCBIMGSCv36mm8
Celera1175,065,863 - 175,075,868 (-)NCBICelera
Cytogenetic Map1H3NCBI
cM Map179.54NCBI
Casq1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81387,203,021 - 87,212,710 (-)NCBIGRCr8
mRatBN7.21384,670,648 - 84,680,339 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1384,670,649 - 84,680,339 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1387,173,972 - 87,183,660 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01388,574,232 - 88,583,921 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01385,758,977 - 85,768,666 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01390,592,676 - 90,602,365 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1390,592,681 - 90,602,365 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01395,113,781 - 95,123,470 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41388,200,506 - 88,210,418 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1384,282,072 - 84,291,712 (-)NCBICelera
Cytogenetic Map13q24NCBI
Casq1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546811,967,678 - 11,978,836 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495546811,967,678 - 11,978,836 (+)NCBIChiLan1.0ChiLan1.0
CASQ1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2189,650,462 - 89,662,740 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1189,390,428 - 89,402,899 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01135,544,249 - 135,555,545 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11139,465,605 - 139,476,969 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1139,465,605 - 139,476,969 (+)Ensemblpanpan1.1panPan2
CASQ1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13822,012,060 - 22,020,430 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3822,011,060 - 22,020,383 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3822,084,775 - 22,093,156 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03822,128,163 - 22,136,607 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3822,128,165 - 22,134,332 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13822,032,897 - 22,041,272 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03822,429,210 - 22,437,626 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03822,838,952 - 22,847,496 (-)NCBIUU_Cfam_GSD_1.0
Casq1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244050586,312,524 - 6,324,146 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936740430,026 - 442,539 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936740430,367 - 442,468 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CASQ1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl490,276,757 - 90,288,250 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1490,276,752 - 90,288,990 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2498,218,225 - 98,228,665 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CASQ1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1203,744,921 - 3,759,220 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl203,744,780 - 3,756,435 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660382,802,575 - 2,814,309 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Casq1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247941,050,955 - 1,065,287 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247941,054,119 - 1,064,652 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CASQ1
276 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1 copy number loss See cases [RCV000051172] Chr1:159479887..166895086 [GRCh38]
Chr1:159449677..166864323 [GRCh37]
Chr1:157716301..165130947 [NCBI36]
Chr1:1q23.2-24.1		 pathogenic
GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3 copy number gain See cases [RCV000051854] Chr1:157747246..176021247 [GRCh38]
Chr1:157717036..175990383 [GRCh37]
Chr1:155983660..174257006 [NCBI36]
Chr1:1q23.1-25.1		 pathogenic
GRCh38/hg38 1q23.1-23.3(chr1:156664483-160727411)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051851]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051851]|See cases [RCV000051851] Chr1:156664483..160727411 [GRCh38]
Chr1:156634275..160697201 [GRCh37]
Chr1:154900899..158963825 [NCBI36]
Chr1:1q23.1-23.3		 pathogenic
NM_001231.5(CASQ1):c.837T>G (p.Asp279Glu) single nucleotide variant Myopathy due to calsequestrin and SERCA1 protein overload [RCV000660526] Chr1:160198685 [GRCh38]
Chr1:160168475 [GRCh37]
Chr1:1q23.2		 uncertain significance
GRCh38/hg38 1q23.2(chr1:160059626-160217512)x3 copy number gain See cases [RCV000136816] Chr1:160059626..160217512 [GRCh38]
Chr1:160029416..160187302 [GRCh37]
Chr1:158296040..158453926 [NCBI36]
Chr1:1q23.2		 benign
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2		 pathogenic
NM_001231.5(CASQ1):c.731A>G (p.Asp244Gly) single nucleotide variant Myopathy due to calsequestrin and SERCA1 protein overload [RCV000161143]|not provided [RCV001850280] Chr1:160195976 [GRCh38]
Chr1:160165766 [GRCh37]
Chr1:1q23.2		 pathogenic|likely pathogenic
GRCh37/hg19 1q23.2(chr1:160111098-160183245)x3 copy number gain Breast ductal adenocarcinoma [RCV000207287] Chr1:160111098..160183245 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.1018G>A (p.Asp340Asn) single nucleotide variant Myopathy due to calsequestrin and SERCA1 protein overload [RCV000626108]|not provided [RCV001855327] Chr1:160199884 [GRCh38]
Chr1:160169674 [GRCh37]
Chr1:1q23.2		 likely pathogenic|likely benign|uncertain significance
NM_001231.5(CASQ1):c.574G>C (p.Glu192Gln) single nucleotide variant Inborn genetic diseases [RCV003348580]|Myopathy due to calsequestrin and SERCA1 protein overload [RCV003492693]|not provided [RCV001889189] Chr1:160195120 [GRCh38]
Chr1:160164910 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.341A>G (p.Asp114Gly) single nucleotide variant not provided [RCV000489530] Chr1:160192863 [GRCh38]
Chr1:160162653 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.409G>A (p.Val137Ile) single nucleotide variant not provided [RCV000521062] Chr1:160193791 [GRCh38]
Chr1:160163581 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.1176TGA[2] (p.Asp395_Asp396del) microsatellite Myopathy due to calsequestrin and SERCA1 protein overload [RCV003492072]|not provided [RCV000480771] Chr1:160201359..160201364 [GRCh38]
Chr1:160171149..160171154 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.472G>T (p.Glu158Ter) single nucleotide variant not provided [RCV000481409] Chr1:160195018 [GRCh38]
Chr1:160164808 [GRCh37]
Chr1:1q23.2		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_001231.5(CASQ1):c.118T>C (p.Phe40Leu) single nucleotide variant not provided [RCV001696971] Chr1:160190869 [GRCh38]
Chr1:160160659 [GRCh37]
Chr1:1q23.2		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_001231.5(CASQ1):c.762C>T (p.Asn254=) single nucleotide variant Inborn genetic diseases [RCV003301845]|not provided [RCV003708765] Chr1:160196007 [GRCh38]
Chr1:160165797 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.472G>A (p.Glu158Lys) single nucleotide variant Inborn genetic diseases [RCV003288438] Chr1:160195018 [GRCh38]
Chr1:160164808 [GRCh37]
Chr1:1q23.2		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q23.2-25.2(chr1:159815642-177026983)x1 copy number loss not provided [RCV000736717] Chr1:159815642..177026983 [GRCh37]
Chr1:1q23.2-25.2		 pathogenic
NM_001231.5(CASQ1):c.790del (p.Thr263_Leu264insTer) deletion not provided [RCV000994145] Chr1:160197574 [GRCh38]
Chr1:160167364 [GRCh37]
Chr1:1q23.2		 likely pathogenic
NM_001231.5(CASQ1):c.2T>A (p.Met1Lys) single nucleotide variant not provided [RCV000920793] Chr1:160190753 [GRCh38]
Chr1:160160543 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.516G>A (p.Ala172=) single nucleotide variant CASQ1-related disorder [RCV004746139]|Inborn genetic diseases [RCV002336882]|not provided [RCV000899071] Chr1:160195062 [GRCh38]
Chr1:160164852 [GRCh37]
Chr1:1q23.2		 benign|likely benign
NM_001231.5(CASQ1):c.578-5C>G single nucleotide variant not provided [RCV000971461] Chr1:160195456 [GRCh38]
Chr1:160165246 [GRCh37]
Chr1:1q23.2		 benign
NM_001231.5(CASQ1):c.215A>G (p.His72Arg) single nucleotide variant not provided [RCV000971349] Chr1:160190966 [GRCh38]
Chr1:160160756 [GRCh37]
Chr1:1q23.2		 benign
NM_001231.5(CASQ1):c.741T>C (p.Asn247=) single nucleotide variant not provided [RCV000923669] Chr1:160195986 [GRCh38]
Chr1:160165776 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.130G>A (p.Asp44Asn) single nucleotide variant CASQ1-related disorder [RCV003930725]|not provided [RCV000888498] Chr1:160190881 [GRCh38]
Chr1:160160671 [GRCh37]
Chr1:1q23.2		 benign|likely benign
NM_001231.5(CASQ1):c.419A>T (p.Tyr140Phe) single nucleotide variant not provided [RCV000964824] Chr1:160193801 [GRCh38]
Chr1:160163591 [GRCh37]
Chr1:1q23.2		 benign
NM_001231.5(CASQ1):c.237G>A (p.Lys79=) single nucleotide variant Inborn genetic diseases [RCV002454080]|not provided [RCV000903394] Chr1:160190988 [GRCh38]
Chr1:160160778 [GRCh37]
Chr1:1q23.2		 benign|likely benign
NM_001231.5(CASQ1):c.226G>A (p.Glu76Lys) single nucleotide variant Inborn genetic diseases [RCV003169250]|not provided [RCV000895084] Chr1:160190977 [GRCh38]
Chr1:160160767 [GRCh37]
Chr1:1q23.2		 likely benign|uncertain significance
NM_001231.5(CASQ1):c.1039G>T (p.Gly347Ter) single nucleotide variant not provided [RCV000921023] Chr1:160199905 [GRCh38]
Chr1:160169695 [GRCh37]
Chr1:1q23.2		 likely benign|conflicting interpretations of pathogenicity
NM_001231.5(CASQ1):c.364+8A>T single nucleotide variant not provided [RCV000939930] Chr1:160192894 [GRCh38]
Chr1:160162684 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.1044C>T (p.Val348=) single nucleotide variant not provided [RCV000936499] Chr1:160199910 [GRCh38]
Chr1:160169700 [GRCh37]
Chr1:1q23.2		 likely benign
GRCh37/hg19 1q23.2-23.3(chr1:159808188-161011163)x3 copy number gain not provided [RCV000846649] Chr1:159808188..161011163 [GRCh37]
Chr1:1q23.2-23.3		 uncertain significance
NM_001231.5(CASQ1):c.859G>T (p.Ala287Ser) single nucleotide variant not provided [RCV000994146] Chr1:160198707 [GRCh38]
Chr1:160168497 [GRCh37]
Chr1:1q23.2		 uncertain significance
GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1 copy number loss not provided [RCV000848773] Chr1:157321299..167391423 [GRCh37]
Chr1:1q23.1-24.2		 pathogenic
NM_001231.5(CASQ1):c.578-4C>G single nucleotide variant not provided [RCV003107172] Chr1:160195457 [GRCh38]
Chr1:160165247 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.280-1G>C single nucleotide variant not provided [RCV000907909] Chr1:160192801 [GRCh38]
Chr1:160162591 [GRCh37]
Chr1:1q23.2		 pathogenic|likely benign
NM_001231.5(CASQ1):c.447C>T (p.Ile149=) single nucleotide variant CASQ1-related disorder [RCV003940601]|Inborn genetic diseases [RCV002332857]|not provided [RCV000888315] Chr1:160193829 [GRCh38]
Chr1:160163619 [GRCh37]
Chr1:1q23.2		 benign|likely benign
NM_001231.5(CASQ1):c.1185T>C (p.Asp395=) single nucleotide variant Inborn genetic diseases [RCV002336885]|not provided [RCV000904054] Chr1:160201370 [GRCh38]
Chr1:160171160 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.364+9G>T single nucleotide variant Myopathy due to calsequestrin and SERCA1 protein overload [RCV002479013]|not provided [RCV000888621] Chr1:160192895 [GRCh38]
Chr1:160162685 [GRCh37]
Chr1:1q23.2		 benign|likely benign
NM_001231.5(CASQ1):c.27C>A (p.Pro9=) single nucleotide variant Inborn genetic diseases [RCV002434182]|not provided [RCV000889536] Chr1:160190778 [GRCh38]
Chr1:160160568 [GRCh37]
Chr1:1q23.2		 benign|likely benign
NM_001231.5(CASQ1):c.1045G>A (p.Val349Ile) single nucleotide variant not provided [RCV001171767] Chr1:160199911 [GRCh38]
Chr1:160169701 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.829-2A>G single nucleotide variant Myopathy due to calsequestrin and SERCA1 protein overload [RCV001258326] Chr1:160198675 [GRCh38]
Chr1:160168465 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.557T>A (p.Phe186Tyr) single nucleotide variant not provided [RCV001349869] Chr1:160195103 [GRCh38]
Chr1:160164893 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.430T>A (p.Phe144Ile) single nucleotide variant not provided [RCV001963971] Chr1:160193812 [GRCh38]
Chr1:160163602 [GRCh37]
Chr1:1q23.2		 uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
NM_001231.5(CASQ1):c.578-3C>G single nucleotide variant not provided [RCV001358357] Chr1:160195458 [GRCh38]
Chr1:160165248 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.884-17C>T single nucleotide variant not provided [RCV002085723] Chr1:160198936 [GRCh38]
Chr1:160168726 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.165G>T (p.Lys55Asn) single nucleotide variant not provided [RCV001754321] Chr1:160190916 [GRCh38]
Chr1:160160706 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.283G>A (p.Ala95Thr) single nucleotide variant not provided [RCV001774048] Chr1:160192805 [GRCh38]
Chr1:160162595 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.970G>A (p.Asp324Asn) single nucleotide variant not provided [RCV001774164] Chr1:160199039 [GRCh38]
Chr1:160168829 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.298G>A (p.Glu100Lys) single nucleotide variant Myopathy due to calsequestrin and SERCA1 protein overload [RCV001801278] Chr1:160192820 [GRCh38]
Chr1:160162610 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.1087G>A (p.Asp363Asn) single nucleotide variant not provided [RCV001950379] Chr1:160201272 [GRCh38]
Chr1:160171062 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.448G>T (p.Val150Leu) single nucleotide variant not provided [RCV002025452]|not specified [RCV002246639] Chr1:160193830 [GRCh38]
Chr1:160163620 [GRCh37]
Chr1:1q23.2		 likely benign|uncertain significance
NM_001231.5(CASQ1):c.143G>A (p.Arg48His) single nucleotide variant Inborn genetic diseases [RCV002388734]|Myopathy due to calsequestrin and SERCA1 protein overload [RCV003146288]|not provided [RCV001864493] Chr1:160190894 [GRCh38]
Chr1:160160684 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.138G>A (p.Val46=) single nucleotide variant not provided [RCV001969027] Chr1:160190889 [GRCh38]
Chr1:160160679 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.26C>A (p.Pro9His) single nucleotide variant not provided [RCV001948492] Chr1:160190777 [GRCh38]
Chr1:160160567 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.748GAG[1] (p.Glu251del) microsatellite CASQ1-related disorder [RCV003416516]|Myopathy due to calsequestrin and SERCA1 protein overload [RCV003146279]|not provided [RCV001929855] Chr1:160195993..160195995 [GRCh38]
Chr1:160165783..160165785 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.427G>A (p.Glu143Lys) single nucleotide variant not provided [RCV001967049] Chr1:160193809 [GRCh38]
Chr1:160163599 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.610T>A (p.Phe204Ile) single nucleotide variant not provided [RCV002044606] Chr1:160195493 [GRCh38]
Chr1:160165283 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.265G>A (p.Glu89Lys) single nucleotide variant not provided [RCV001891490] Chr1:160191016 [GRCh38]
Chr1:160160806 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.766G>A (p.Val256Met) single nucleotide variant not provided [RCV001911424] Chr1:160196011 [GRCh38]
Chr1:160165801 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.637A>C (p.Thr213Pro) single nucleotide variant not provided [RCV002023168] Chr1:160195520 [GRCh38]
Chr1:160165310 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.511C>T (p.Gln171Ter) single nucleotide variant not provided [RCV001891567] Chr1:160195057 [GRCh38]
Chr1:160164847 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.573del (p.Glu192fs) deletion not provided [RCV001986195] Chr1:160195119 [GRCh38]
Chr1:160164909 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.1176TGA[5] (p.Asp396dup) microsatellite not provided [RCV001964522] Chr1:160201358..160201359 [GRCh38]
Chr1:160171148..160171149 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.1062G>A (p.Ala354=) single nucleotide variant not provided [RCV001890545] Chr1:160201247 [GRCh38]
Chr1:160171037 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.596A>G (p.Asp199Gly) single nucleotide variant not provided [RCV001894264] Chr1:160195479 [GRCh38]
Chr1:160165269 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.925G>A (p.Asp309Asn) single nucleotide variant Inborn genetic diseases [RCV002370438]|not provided [RCV001922292]|not specified [RCV002246573] Chr1:160198994 [GRCh38]
Chr1:160168784 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.754A>G (p.Ile252Val) single nucleotide variant not provided [RCV001999668] Chr1:160195999 [GRCh38]
Chr1:160165789 [GRCh37]
Chr1:1q23.2		 uncertain significance
NC_000001.10:g.(?_160090676)_(160327063_?)dup duplication Familial hemiplegic migraine [RCV002037093]|Peroxisome biogenesis disorder 12A (Zellweger) [RCV002037094] Chr1:160090676..160327063 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.892G>A (p.Glu298Lys) single nucleotide variant not provided [RCV002018916] Chr1:160198961 [GRCh38]
Chr1:160168751 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.634G>A (p.Ala212Thr) single nucleotide variant not provided [RCV001888767] Chr1:160195517 [GRCh38]
Chr1:160165307 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.221C>T (p.Pro74Leu) single nucleotide variant Inborn genetic diseases [RCV004039008]|not provided [RCV001887914] Chr1:160190972 [GRCh38]
Chr1:160160762 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.279+6T>C single nucleotide variant not provided [RCV001925093] Chr1:160191036 [GRCh38]
Chr1:160160826 [GRCh37]
Chr1:1q23.2		 uncertain significance
NC_000001.10:g.(?_160160542)_(160171166_?)dup duplication not provided [RCV001943721] Chr1:160160542..160171166 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.544C>T (p.Leu182Phe) single nucleotide variant Inborn genetic diseases [RCV003170400]|not provided [RCV002030699] Chr1:160195090 [GRCh38]
Chr1:160164880 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.334G>A (p.Glu112Lys) single nucleotide variant not provided [RCV002050688] Chr1:160192856 [GRCh38]
Chr1:160162646 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.229G>C (p.Asp77His) single nucleotide variant Inborn genetic diseases [RCV002569296]|not provided [RCV001972946] Chr1:160190980 [GRCh38]
Chr1:160160770 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.548T>C (p.Ile183Thr) single nucleotide variant not provided [RCV002031246] Chr1:160195094 [GRCh38]
Chr1:160164884 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.364+5G>C single nucleotide variant not provided [RCV001922707] Chr1:160192891 [GRCh38]
Chr1:160162681 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.745G>A (p.Glu249Lys) single nucleotide variant Inborn genetic diseases [RCV002386591]|not provided [RCV002033099] Chr1:160195990 [GRCh38]
Chr1:160165780 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.1171G>A (p.Asp391Asn) single nucleotide variant not provided [RCV001917450] Chr1:160201356 [GRCh38]
Chr1:160171146 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.1061C>T (p.Ala354Val) single nucleotide variant Inborn genetic diseases [RCV003348758]|Myopathy due to calsequestrin and SERCA1 protein overload [RCV002291510]|not provided [RCV002014193] Chr1:160201246 [GRCh38]
Chr1:160171036 [GRCh37]
Chr1:1q23.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001231.5(CASQ1):c.46C>T (p.Arg16Trp) single nucleotide variant Inborn genetic diseases [RCV003303643]|not provided [RCV002018165] Chr1:160190797 [GRCh38]
Chr1:160160587 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.365-20_365-19delinsAA indel not provided [RCV002016221]|not specified [RCV004690231] Chr1:160193727..160193728 [GRCh38]
Chr1:160163517..160163518 [GRCh37]
Chr1:1q23.2		 likely benign|uncertain significance
NM_001231.5(CASQ1):c.806C>T (p.Pro269Leu) single nucleotide variant Inborn genetic diseases [RCV002422989]|not provided [RCV001898347] Chr1:160197592 [GRCh38]
Chr1:160167382 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.338A>G (p.Lys113Arg) single nucleotide variant not provided [RCV001884688] Chr1:160192860 [GRCh38]
Chr1:160162650 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.443C>T (p.Thr148Ile) single nucleotide variant Inborn genetic diseases [RCV002331560]|not provided [RCV002019147] Chr1:160193825 [GRCh38]
Chr1:160163615 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.1066A>G (p.Ser356Gly) single nucleotide variant not provided [RCV002028932] Chr1:160201251 [GRCh38]
Chr1:160171041 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.824C>A (p.Thr275Asn) single nucleotide variant not provided [RCV001994391] Chr1:160197610 [GRCh38]
Chr1:160167400 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.1103C>T (p.Pro368Leu) single nucleotide variant not provided [RCV001998058] Chr1:160201288 [GRCh38]
Chr1:160171078 [GRCh37]
Chr1:1q23.2		 uncertain significance
NC_000001.10:g.(?_158581054)_(162750036_?)dup duplication Autoimmune interstitial lung disease-arthritis syndrome [RCV001918952]|not provided [RCV001918953] Chr1:158581054..162750036 [GRCh37]
Chr1:1q23.1-23.3		 uncertain significance|no classifications from unflagged records
NM_001231.5(CASQ1):c.829-3C>T single nucleotide variant not provided [RCV001980020] Chr1:160198674 [GRCh38]
Chr1:160168464 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.697G>A (p.Glu233Lys) single nucleotide variant not provided [RCV001906817] Chr1:160195942 [GRCh38]
Chr1:160165732 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.89C>A (p.Ser30Ter) single nucleotide variant not provided [RCV001957962] Chr1:160190840 [GRCh38]
Chr1:160160630 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.856G>A (p.Val286Met) single nucleotide variant not provided [RCV001878472] Chr1:160198704 [GRCh38]
Chr1:160168494 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.333T>C (p.Ser111=) single nucleotide variant not provided [RCV002090442] Chr1:160192855 [GRCh38]
Chr1:160162645 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.510G>A (p.Leu170=) single nucleotide variant not provided [RCV002090562] Chr1:160195056 [GRCh38]
Chr1:160164846 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.453G>A (p.Glu151=) single nucleotide variant not provided [RCV002107628] Chr1:160193835 [GRCh38]
Chr1:160163625 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.531G>A (p.Glu177=) single nucleotide variant not provided [RCV002092456] Chr1:160195077 [GRCh38]
Chr1:160164867 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.783-19C>G single nucleotide variant not provided [RCV002091771] Chr1:160197550 [GRCh38]
Chr1:160167340 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.829-19C>T single nucleotide variant not provided [RCV002090589] Chr1:160198658 [GRCh38]
Chr1:160168448 [GRCh37]
Chr1:1q23.2		 benign
NM_001231.5(CASQ1):c.828+12T>C single nucleotide variant not provided [RCV002087490] Chr1:160197626 [GRCh38]
Chr1:160167416 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.306G>A (p.Lys102=) single nucleotide variant not provided [RCV002189368] Chr1:160192828 [GRCh38]
Chr1:160162618 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.441C>T (p.Asp147=) single nucleotide variant not provided [RCV002090505] Chr1:160193823 [GRCh38]
Chr1:160163613 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.465+12C>T single nucleotide variant not provided [RCV002125969] Chr1:160193859 [GRCh38]
Chr1:160163649 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.829-7_829-6del deletion not provided [RCV002109412] Chr1:160198670..160198671 [GRCh38]
Chr1:160168460..160168461 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.364+17C>A single nucleotide variant not provided [RCV002072881] Chr1:160192903 [GRCh38]
Chr1:160162693 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.260T>C (p.Met87Thr) single nucleotide variant CASQ1-related disorder [RCV003978804]|not provided [RCV002109107] Chr1:160191011 [GRCh38]
Chr1:160160801 [GRCh37]
Chr1:1q23.2		 benign
NM_001231.5(CASQ1):c.280-13T>C single nucleotide variant not provided [RCV002209376] Chr1:160192789 [GRCh38]
Chr1:160162579 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.657A>G (p.Ala219=) single nucleotide variant Inborn genetic diseases [RCV002361479]|not provided [RCV002080444] Chr1:160195902 [GRCh38]
Chr1:160165692 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.984+20C>A single nucleotide variant not provided [RCV002187422] Chr1:160199073 [GRCh38]
Chr1:160168863 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.782+15C>A single nucleotide variant not provided [RCV002212771] Chr1:160196042 [GRCh38]
Chr1:160165832 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.652-13C>G single nucleotide variant not provided [RCV002168071] Chr1:160195884 [GRCh38]
Chr1:160165674 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.39G>A (p.Pro13=) single nucleotide variant Inborn genetic diseases [RCV002352863]|not provided [RCV002132183] Chr1:160190790 [GRCh38]
Chr1:160160580 [GRCh37]
Chr1:1q23.2		 benign|likely benign
NM_001231.5(CASQ1):c.723C>T (p.Thr241=) single nucleotide variant not provided [RCV002172079] Chr1:160195968 [GRCh38]
Chr1:160165758 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.1068C>T (p.Ser356=) single nucleotide variant Inborn genetic diseases [RCV002409512]|not provided [RCV002112878] Chr1:160201253 [GRCh38]
Chr1:160171043 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.1173C>T (p.Asp391=) single nucleotide variant not provided [RCV002079494] Chr1:160201358 [GRCh38]
Chr1:160171148 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.652-15C>T single nucleotide variant not provided [RCV002093751] Chr1:160195882 [GRCh38]
Chr1:160165672 [GRCh37]
Chr1:1q23.2		 benign
NM_001231.5(CASQ1):c.1059+20C>G single nucleotide variant not provided [RCV002094101] Chr1:160199945 [GRCh38]
Chr1:160169735 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.578-5C>T single nucleotide variant not provided [RCV002152422] Chr1:160195456 [GRCh38]
Chr1:160165246 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.280-20A>T single nucleotide variant not provided [RCV002211549] Chr1:160192782 [GRCh38]
Chr1:160162572 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.444C>T (p.Thr148=) single nucleotide variant Inborn genetic diseases [RCV002331779]|not provided [RCV002106162] Chr1:160193826 [GRCh38]
Chr1:160163616 [GRCh37]
Chr1:1q23.2		 benign|likely benign
NM_001231.5(CASQ1):c.491T>C (p.Ile164Thr) single nucleotide variant Inborn genetic diseases [RCV003307998]|not provided [RCV002132721] Chr1:160195037 [GRCh38]
Chr1:160164827 [GRCh37]
Chr1:1q23.2		 benign|likely benign|uncertain significance
NM_001231.5(CASQ1):c.234C>T (p.Asp78=) single nucleotide variant not provided [RCV002116623] Chr1:160190985 [GRCh38]
Chr1:160160775 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.783-17_783-16del microsatellite not provided [RCV002193665] Chr1:160197550..160197551 [GRCh38]
Chr1:160167340..160167341 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.828+16C>T single nucleotide variant not provided [RCV002195231] Chr1:160197630 [GRCh38]
Chr1:160167420 [GRCh37]
Chr1:1q23.2		 benign
NM_001231.5(CASQ1):c.782+19C>G single nucleotide variant not provided [RCV002122864] Chr1:160196046 [GRCh38]
Chr1:160165836 [GRCh37]
Chr1:1q23.2		 benign
NM_001231.5(CASQ1):c.280-20A>G single nucleotide variant not provided [RCV002135425] Chr1:160192782 [GRCh38]
Chr1:160162572 [GRCh37]
Chr1:1q23.2		 benign
NM_001231.5(CASQ1):c.765C>T (p.Phe255=) single nucleotide variant not provided [RCV002155983] Chr1:160196010 [GRCh38]
Chr1:160165800 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.883+17G>A single nucleotide variant not provided [RCV002135986] Chr1:160198748 [GRCh38]
Chr1:160168538 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.651+12C>T single nucleotide variant not provided [RCV002124116] Chr1:160195546 [GRCh38]
Chr1:160165336 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.365-31_365-7del deletion not provided [RCV002120403] Chr1:160193708..160193732 [GRCh38]
Chr1:160163498..160163522 [GRCh37]
Chr1:1q23.2		 benign
NM_001231.5(CASQ1):c.891C>T (p.Phe297=) single nucleotide variant not provided [RCV002101428] Chr1:160198960 [GRCh38]
Chr1:160168750 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.807G>A (p.Pro269=) single nucleotide variant Inborn genetic diseases [RCV002416448]|not provided [RCV002137552] Chr1:160197593 [GRCh38]
Chr1:160167383 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.1059+17C>G single nucleotide variant not provided [RCV002200232] Chr1:160199942 [GRCh38]
Chr1:160169732 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.129C>T (p.Tyr43=) single nucleotide variant not provided [RCV002101234] Chr1:160190880 [GRCh38]
Chr1:160160670 [GRCh37]
Chr1:1q23.2		 benign
NM_001231.5(CASQ1):c.1049A>G (p.Asn350Ser) single nucleotide variant not provided [RCV002144195] Chr1:160199915 [GRCh38]
Chr1:160169705 [GRCh37]
Chr1:1q23.2		 benign
NM_001231.5(CASQ1):c.768G>A (p.Val256=) single nucleotide variant not provided [RCV002220517] Chr1:160196013 [GRCh38]
Chr1:160165803 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.1060-17C>A single nucleotide variant not provided [RCV002122896] Chr1:160201228 [GRCh38]
Chr1:160171018 [GRCh37]
Chr1:1q23.2		 benign
NM_001231.5(CASQ1):c.112C>T (p.Leu38=) single nucleotide variant not provided [RCV002216754] Chr1:160190863 [GRCh38]
Chr1:160160653 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.782+12G>A single nucleotide variant not provided [RCV002158288] Chr1:160196039 [GRCh38]
Chr1:160165829 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.364+15G>A single nucleotide variant not provided [RCV002159656] Chr1:160192901 [GRCh38]
Chr1:160162691 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.744C>T (p.Ser248=) single nucleotide variant Inborn genetic diseases [RCV002382392]|not provided [RCV002081994] Chr1:160195989 [GRCh38]
Chr1:160165779 [GRCh37]
Chr1:1q23.2		 benign|likely benign
NM_001231.5(CASQ1):c.652-7C>T single nucleotide variant not provided [RCV002136306] Chr1:160195890 [GRCh38]
Chr1:160165680 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.696C>T (p.Tyr232=) single nucleotide variant Inborn genetic diseases [RCV002363652]|not provided [RCV002120922] Chr1:160195941 [GRCh38]
Chr1:160165731 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.783-16dup duplication not provided [RCV002162478] Chr1:160197552..160197553 [GRCh38]
Chr1:160167342..160167343 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.783-7C>T single nucleotide variant not provided [RCV002103117] Chr1:160197562 [GRCh38]
Chr1:160167352 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.134G>T (p.Gly45Val) single nucleotide variant Inborn genetic diseases [RCV002382301]|Myopathy due to calsequestrin and SERCA1 protein overload [RCV003492730]|not provided [RCV002197852] Chr1:160190885 [GRCh38]
Chr1:160160675 [GRCh37]
Chr1:1q23.2		 likely benign|uncertain significance
NM_001231.5(CASQ1):c.365-18G>A single nucleotide variant not provided [RCV002180956] Chr1:160193729 [GRCh38]
Chr1:160163519 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.978C>T (p.Phe326=) single nucleotide variant Inborn genetic diseases [RCV003161654]|not provided [RCV002156578] Chr1:160199047 [GRCh38]
Chr1:160168837 [GRCh37]
Chr1:1q23.2		 benign|likely benign
NM_001231.5(CASQ1):c.660G>T (p.Lys220Asn) single nucleotide variant Inborn genetic diseases [RCV002361455]|not provided [RCV002204703] Chr1:160195905 [GRCh38]
Chr1:160165695 [GRCh37]
Chr1:1q23.2		 likely benign|uncertain significance
NM_001231.5(CASQ1):c.134G>A (p.Gly45Asp) single nucleotide variant not provided [RCV002162992] Chr1:160190885 [GRCh38]
Chr1:160160675 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.836A>T (p.Asp279Val) single nucleotide variant not provided [RCV003115413] Chr1:160198684 [GRCh38]
Chr1:160168474 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.985-10C>G single nucleotide variant not provided [RCV003112282] Chr1:160199841 [GRCh38]
Chr1:160169631 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.365-2A>T single nucleotide variant not provided [RCV003230051] Chr1:160193745 [GRCh38]
Chr1:160163535 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.1082T>C (p.Met361Thr) single nucleotide variant not provided [RCV002269640] Chr1:160201267 [GRCh38]
Chr1:160171057 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.573A>G (p.Ser191=) single nucleotide variant Inborn genetic diseases [RCV002347761]|not provided [RCV003096858] Chr1:160195119 [GRCh38]
Chr1:160164909 [GRCh37]
Chr1:1q23.2		 likely benign
GRCh37/hg19 1q23.2-23.3(chr1:159778364-160770515)x3 copy number gain not provided [RCV002474924] Chr1:159778364..160770515 [GRCh37]
Chr1:1q23.2-23.3		 uncertain significance
NM_001231.5(CASQ1):c.1148del (p.Gly383fs) deletion Myopathy [RCV002463856]|not provided [RCV003679136] Chr1:160201331 [GRCh38]
Chr1:160171121 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.1154T>C (p.Ile385Thr) single nucleotide variant not provided [RCV003235860] Chr1:160201339 [GRCh38]
Chr1:160171129 [GRCh37]
Chr1:1q23.2		 likely pathogenic
NM_001231.5(CASQ1):c.592G>A (p.Glu198Lys) single nucleotide variant Inborn genetic diseases [RCV002355858]|Myopathy due to calsequestrin and SERCA1 protein overload [RCV003492756]|not provided [RCV003098065] Chr1:160195475 [GRCh38]
Chr1:160165265 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.976T>C (p.Phe326Leu) single nucleotide variant not provided [RCV002299852] Chr1:160199045 [GRCh38]
Chr1:160168835 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.208C>G (p.Leu70Val) single nucleotide variant Inborn genetic diseases [RCV002424012] Chr1:160190959 [GRCh38]
Chr1:160160749 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.159T>C (p.Asn53=) single nucleotide variant Inborn genetic diseases [RCV002398632] Chr1:160190910 [GRCh38]
Chr1:160160700 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.591C>T (p.Phe197=) single nucleotide variant Inborn genetic diseases [RCV002355794]|not provided [RCV003098056] Chr1:160195474 [GRCh38]
Chr1:160165264 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.225C>T (p.Pro75=) single nucleotide variant Inborn genetic diseases [RCV002443691]|not provided [RCV003098756] Chr1:160190976 [GRCh38]
Chr1:160160766 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.420C>T (p.Tyr140=) single nucleotide variant Inborn genetic diseases [RCV002327941] Chr1:160193802 [GRCh38]
Chr1:160163592 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.864C>G (p.Phe288Leu) single nucleotide variant Inborn genetic diseases [RCV002449629]|not provided [RCV003103522] Chr1:160198712 [GRCh38]
Chr1:160168502 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.1069G>T (p.Val357Leu) single nucleotide variant not provided [RCV002295200] Chr1:160201254 [GRCh38]
Chr1:160171044 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.829-9C>G single nucleotide variant not provided [RCV002613710]|not specified [RCV003491131] Chr1:160198668 [GRCh38]
Chr1:160168458 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.866C>T (p.Ala289Val) single nucleotide variant Inborn genetic diseases [RCV004067821]|not provided [RCV002750464] Chr1:160198714 [GRCh38]
Chr1:160168504 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.577C>T (p.His193Tyr) single nucleotide variant not provided [RCV002775244] Chr1:160195123 [GRCh38]
Chr1:160164913 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.1163A>G (p.Glu388Gly) single nucleotide variant Inborn genetic diseases [RCV004073259]|not provided [RCV003095391] Chr1:160201348 [GRCh38]
Chr1:160171138 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.319G>A (p.Gly107Arg) single nucleotide variant Inborn genetic diseases [RCV004064755]|not provided [RCV002775922] Chr1:160192841 [GRCh38]
Chr1:160162631 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.1149C>T (p.Gly383=) single nucleotide variant not provided [RCV002618839] Chr1:160201334 [GRCh38]
Chr1:160171124 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.319G>C (p.Gly107Arg) single nucleotide variant not provided [RCV003017138] Chr1:160192841 [GRCh38]
Chr1:160162631 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.1008G>A (p.Thr336=) single nucleotide variant Inborn genetic diseases [RCV003274239]|not provided [RCV003095638] Chr1:160199874 [GRCh38]
Chr1:160169664 [GRCh37]
Chr1:1q23.2		 benign|likely benign
NM_001231.5(CASQ1):c.254T>C (p.Phe85Ser) single nucleotide variant Inborn genetic diseases [RCV002774331]|not provided [RCV003111790] Chr1:160191005 [GRCh38]
Chr1:160160795 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.364+17C>T single nucleotide variant not provided [RCV002726930] Chr1:160192903 [GRCh38]
Chr1:160162693 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.883+12A>C single nucleotide variant not provided [RCV002776460] Chr1:160198743 [GRCh38]
Chr1:160168533 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.514G>C (p.Ala172Pro) single nucleotide variant not provided [RCV003017497] Chr1:160195060 [GRCh38]
Chr1:160164850 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.38C>T (p.Pro13Leu) single nucleotide variant not provided [RCV002979163] Chr1:160190789 [GRCh38]
Chr1:160160579 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.926A>T (p.Asp309Val) single nucleotide variant not provided [RCV002662574] Chr1:160198995 [GRCh38]
Chr1:160168785 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.827G>A (p.Trp276Ter) single nucleotide variant not provided [RCV002740082] Chr1:160197613 [GRCh38]
Chr1:160167403 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.651+10C>T single nucleotide variant not provided [RCV002636404] Chr1:160195544 [GRCh38]
Chr1:160165334 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.1017C>T (p.Ile339=) single nucleotide variant not provided [RCV002622542] Chr1:160199883 [GRCh38]
Chr1:160169673 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.715C>G (p.Pro239Ala) single nucleotide variant Myopathy due to calsequestrin and SERCA1 protein overload [RCV003492787]|not provided [RCV002953076] Chr1:160195960 [GRCh38]
Chr1:160165750 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.1097A>G (p.Asp366Gly) single nucleotide variant Inborn genetic diseases [RCV002884481] Chr1:160201282 [GRCh38]
Chr1:160171072 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.33T>C (p.Ala11=) single nucleotide variant not provided [RCV002756920] Chr1:160190784 [GRCh38]
Chr1:160160574 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.344C>T (p.Ala115Val) single nucleotide variant not provided [RCV002976652] Chr1:160192866 [GRCh38]
Chr1:160162656 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.476A>G (p.Asp159Gly) single nucleotide variant Inborn genetic diseases [RCV002739097]|not provided [RCV003778613] Chr1:160195022 [GRCh38]
Chr1:160164812 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.508C>T (p.Leu170=) single nucleotide variant not provided [RCV002998802] Chr1:160195054 [GRCh38]
Chr1:160164844 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.230A>T (p.Asp77Val) single nucleotide variant not provided [RCV002695808] Chr1:160190981 [GRCh38]
Chr1:160160771 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.577+9C>A single nucleotide variant not provided [RCV003080635] Chr1:160195132 [GRCh38]
Chr1:160164922 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.677T>C (p.Leu226Pro) single nucleotide variant not provided [RCV003059917] Chr1:160195922 [GRCh38]
Chr1:160165712 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.549T>C (p.Ile183=) single nucleotide variant not provided [RCV002745780] Chr1:160195095 [GRCh38]
Chr1:160164885 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.571T>A (p.Ser191Thr) single nucleotide variant not provided [RCV002667983] Chr1:160195117 [GRCh38]
Chr1:160164907 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.577+1G>T single nucleotide variant not provided [RCV002805614] Chr1:160195124 [GRCh38]
Chr1:160164914 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.502C>T (p.Arg168Ter) single nucleotide variant not provided [RCV002954337] Chr1:160195048 [GRCh38]
Chr1:160164838 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.279+1G>A single nucleotide variant not provided [RCV002890457] Chr1:160191031 [GRCh38]
Chr1:160160821 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.239C>T (p.Ala80Val) single nucleotide variant not provided [RCV003022464] Chr1:160190990 [GRCh38]
Chr1:160160780 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.15C>G (p.Asp5Glu) single nucleotide variant not provided [RCV002642960] Chr1:160190766 [GRCh38]
Chr1:160160556 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.3G>A (p.Met1Ile) single nucleotide variant not provided [RCV003041964] Chr1:160190754 [GRCh38]
Chr1:160160544 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.532G>A (p.Asp178Asn) single nucleotide variant not provided [RCV002643412] Chr1:160195078 [GRCh38]
Chr1:160164868 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.984+18G>A single nucleotide variant not provided [RCV002593728] Chr1:160199071 [GRCh38]
Chr1:160168861 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.782+13G>A single nucleotide variant not provided [RCV002875953] Chr1:160196040 [GRCh38]
Chr1:160165830 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.854T>C (p.Ile285Thr) single nucleotide variant not provided [RCV002582122] Chr1:160198702 [GRCh38]
Chr1:160168492 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.406G>A (p.Glu136Lys) single nucleotide variant not provided [RCV003047904] Chr1:160193788 [GRCh38]
Chr1:160163578 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.581A>G (p.Tyr194Cys) single nucleotide variant not provided [RCV002600768] Chr1:160195464 [GRCh38]
Chr1:160165254 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.633C>T (p.Phe211=) single nucleotide variant not provided [RCV002714863] Chr1:160195516 [GRCh38]
Chr1:160165306 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.122C>T (p.Pro41Leu) single nucleotide variant not provided [RCV002806183] Chr1:160190873 [GRCh38]
Chr1:160160663 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.740A>G (p.Asn247Ser) single nucleotide variant not provided [RCV002671574] Chr1:160195985 [GRCh38]
Chr1:160165775 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.1116G>C (p.Glu372Asp) single nucleotide variant not provided [RCV002834085] Chr1:160201301 [GRCh38]
Chr1:160171091 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.244C>T (p.Gln82Ter) single nucleotide variant not provided [RCV002834426] Chr1:160190995 [GRCh38]
Chr1:160160785 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.451G>T (p.Glu151Ter) single nucleotide variant not provided [RCV002627645] Chr1:160193833 [GRCh38]
Chr1:160163623 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.707T>A (p.Met236Lys) single nucleotide variant not provided [RCV002631224] Chr1:160195952 [GRCh38]
Chr1:160165742 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.525T>C (p.Asn175=) single nucleotide variant not provided [RCV002922257] Chr1:160195071 [GRCh38]
Chr1:160164861 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.498T>C (p.Gly166=) single nucleotide variant not provided [RCV002650761] Chr1:160195044 [GRCh38]
Chr1:160164834 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.886G>A (p.Gly296Ser) single nucleotide variant not provided [RCV003027330] Chr1:160198955 [GRCh38]
Chr1:160168745 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.515C>T (p.Ala172Val) single nucleotide variant CASQ1-related disorder [RCV003404076]|not provided [RCV003091415] Chr1:160195061 [GRCh38]
Chr1:160164851 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.87G>C (p.Lys29Asn) single nucleotide variant not provided [RCV002832899] Chr1:160190838 [GRCh38]
Chr1:160160628 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.307G>A (p.Gly103Ser) single nucleotide variant not provided [RCV003086919] Chr1:160192829 [GRCh38]
Chr1:160162619 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.1167C>T (p.Asp389=) single nucleotide variant not provided [RCV002671529] Chr1:160201352 [GRCh38]
Chr1:160171142 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.883+3G>A single nucleotide variant not provided [RCV003067707] Chr1:160198734 [GRCh38]
Chr1:160168524 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.652-17T>A single nucleotide variant not provided [RCV002585737] Chr1:160195880 [GRCh38]
Chr1:160165670 [GRCh37]
Chr1:1q23.2		 benign
NM_001231.5(CASQ1):c.638C>T (p.Thr213Ile) single nucleotide variant not provided [RCV002603069] Chr1:160195521 [GRCh38]
Chr1:160165311 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.10A>G (p.Thr4Ala) single nucleotide variant not provided [RCV002680775] Chr1:160190761 [GRCh38]
Chr1:160160551 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.280-3_280-2del deletion not provided [RCV002588703] Chr1:160192799..160192800 [GRCh38]
Chr1:160162589..160162590 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.365-11T>A single nucleotide variant not provided [RCV002590191] Chr1:160193736 [GRCh38]
Chr1:160163526 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.429G>C (p.Glu143Asp) single nucleotide variant CASQ1-related disorder [RCV003973772]|Myopathy due to calsequestrin and SERCA1 protein overload [RCV003144663]|not provided [RCV003778829] Chr1:160193811 [GRCh38]
Chr1:160163601 [GRCh37]
Chr1:1q23.2		 likely benign|uncertain significance
NM_001231.5(CASQ1):c.46del (p.Arg16fs) deletion Myopathy due to calsequestrin and SERCA1 protein overload [RCV003144664] Chr1:160190797 [GRCh38]
Chr1:160160587 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.984+2T>G single nucleotide variant Myopathy due to calsequestrin and SERCA1 protein overload [RCV003144665] Chr1:160199055 [GRCh38]
Chr1:160168845 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.142C>T (p.Arg48Cys) single nucleotide variant Myopathy due to calsequestrin and SERCA1 protein overload [RCV003144666] Chr1:160190893 [GRCh38]
Chr1:160160683 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.732C>T (p.Asp244=) single nucleotide variant Inborn genetic diseases [RCV003196314] Chr1:160195977 [GRCh38]
Chr1:160165767 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.897C>A (p.Phe299Leu) single nucleotide variant Inborn genetic diseases [RCV003171487]|not provided [RCV003730425] Chr1:160198966 [GRCh38]
Chr1:160168756 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.1086C>T (p.Asp362=) single nucleotide variant Inborn genetic diseases [RCV003177152]|not provided [RCV003738383] Chr1:160201271 [GRCh38]
Chr1:160171061 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.376G>A (p.Val126Met) single nucleotide variant Inborn genetic diseases [RCV003310143]|not provided [RCV003669379] Chr1:160193758 [GRCh38]
Chr1:160163548 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.197T>A (p.Val66Glu) single nucleotide variant not provided [RCV003319130] Chr1:160190948 [GRCh38]
Chr1:160160738 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.941C>G (p.Pro314Arg) single nucleotide variant Inborn genetic diseases [RCV003372529]|not provided [RCV003669397] Chr1:160199010 [GRCh38]
Chr1:160168800 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.752A>G (p.Glu251Gly) single nucleotide variant Inborn genetic diseases [RCV003374792] Chr1:160195997 [GRCh38]
Chr1:160165787 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.465+14T>C single nucleotide variant not provided [RCV003880196] Chr1:160193861 [GRCh38]
Chr1:160163651 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.268C>T (p.Leu90=) single nucleotide variant not provided [RCV003873472] Chr1:160191019 [GRCh38]
Chr1:160160809 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.115del (p.Asp39fs) deletion not provided [RCV003570377] Chr1:160190865 [GRCh38]
Chr1:160160655 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.1074G>T (p.Trp358Cys) single nucleotide variant not provided [RCV003409191] Chr1:160201259 [GRCh38]
Chr1:160171049 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.984+1G>A single nucleotide variant Myopathy due to calsequestrin and SERCA1 protein overload [RCV003485017] Chr1:160199054 [GRCh38]
Chr1:160168844 [GRCh37]
Chr1:1q23.2		 likely pathogenic
GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1 copy number loss not provided [RCV003483944] Chr1:158001058..162858285 [GRCh37]
Chr1:1q23.1-23.3		 likely pathogenic
NM_001231.5(CASQ1):c.985-1G>A single nucleotide variant not specified [RCV003404917] Chr1:160199850 [GRCh38]
Chr1:160169640 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.769GAG[1] (p.Glu258del) microsatellite CASQ1-related disorder [RCV003402319]|not provided [RCV003549087] Chr1:160196013..160196015 [GRCh38]
Chr1:160165803..160165805 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.167del (p.Asn56fs) deletion not provided [RCV003409190] Chr1:160190917 [GRCh38]
Chr1:160160707 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.1168G>A (p.Asp390Asn) single nucleotide variant Inborn genetic diseases [RCV004362765]|not specified [RCV003388318] Chr1:160201353 [GRCh38]
Chr1:160171143 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.491T>A (p.Ile164Asn) single nucleotide variant not provided [RCV003695952] Chr1:160195037 [GRCh38]
Chr1:160164827 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.924A>G (p.Gln308=) single nucleotide variant not provided [RCV003695349] Chr1:160198993 [GRCh38]
Chr1:160168783 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.594G>T (p.Glu198Asp) single nucleotide variant not provided [RCV003877687] Chr1:160195477 [GRCh38]
Chr1:160165267 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.16A>G (p.Arg6Gly) single nucleotide variant not provided [RCV003691535] Chr1:160190767 [GRCh38]
Chr1:160160557 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.828+1G>T single nucleotide variant not provided [RCV003714144] Chr1:160197615 [GRCh38]
Chr1:160167405 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.1081A>G (p.Met361Val) single nucleotide variant not provided [RCV003577961] Chr1:160201266 [GRCh38]
Chr1:160171056 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.984+20C>T single nucleotide variant not provided [RCV003881570] Chr1:160199073 [GRCh38]
Chr1:160168863 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.829-11C>G single nucleotide variant not provided [RCV003693160] Chr1:160198666 [GRCh38]
Chr1:160168456 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.735G>A (p.Lys245=) single nucleotide variant not provided [RCV003714768] Chr1:160195980 [GRCh38]
Chr1:160165770 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.103C>A (p.Gln35Lys) single nucleotide variant not provided [RCV003826976] Chr1:160190854 [GRCh38]
Chr1:160160644 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.22G>A (p.Gly8Arg) single nucleotide variant not provided [RCV003715510] Chr1:160190773 [GRCh38]
Chr1:160160563 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.315C>T (p.Gly105=) single nucleotide variant not provided [RCV003687869] Chr1:160192837 [GRCh38]
Chr1:160162627 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.573A>C (p.Ser191=) single nucleotide variant not provided [RCV003673126] Chr1:160195119 [GRCh38]
Chr1:160164909 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.829-8C>A single nucleotide variant not provided [RCV003561603] Chr1:160198669 [GRCh38]
Chr1:160168459 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.318C>T (p.Phe106=) single nucleotide variant not provided [RCV003810884] Chr1:160192840 [GRCh38]
Chr1:160162630 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.47G>A (p.Arg16Gln) single nucleotide variant not provided [RCV003725360] Chr1:160190798 [GRCh38]
Chr1:160160588 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.570C>T (p.Asp190=) single nucleotide variant not provided [RCV003548307] Chr1:160195116 [GRCh38]
Chr1:160164906 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.795G>A (p.Arg265=) single nucleotide variant not provided [RCV003856287] Chr1:160197581 [GRCh38]
Chr1:160167371 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.1059T>C (p.Asp353=) single nucleotide variant not provided [RCV003703110] Chr1:160199925 [GRCh38]
Chr1:160169715 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.769G>A (p.Glu257Lys) single nucleotide variant not provided [RCV003671592] Chr1:160196014 [GRCh38]
Chr1:160165804 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.772G>C (p.Glu258Gln) single nucleotide variant not provided [RCV003849686] Chr1:160196017 [GRCh38]
Chr1:160165807 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.1069G>A (p.Val357Ile) single nucleotide variant not provided [RCV003814181] Chr1:160201254 [GRCh38]
Chr1:160171044 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.458T>G (p.Leu153Arg) single nucleotide variant not provided [RCV003725964] Chr1:160193840 [GRCh38]
Chr1:160163630 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.1162G>C (p.Glu388Gln) single nucleotide variant not provided [RCV003703038] Chr1:160201347 [GRCh38]
Chr1:160171137 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.279+6T>A single nucleotide variant not provided [RCV003812099] Chr1:160191036 [GRCh38]
Chr1:160160826 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.277G>A (p.Glu93Lys) single nucleotide variant not provided [RCV003856150] Chr1:160191028 [GRCh38]
Chr1:160160818 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.466-3C>T single nucleotide variant not provided [RCV003670990] Chr1:160195009 [GRCh38]
Chr1:160164799 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.514del (p.Ala172fs) deletion not provided [RCV003716916] Chr1:160195059 [GRCh38]
Chr1:160164849 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.366C>T (p.Gly122=) single nucleotide variant not provided [RCV003664322] Chr1:160193748 [GRCh38]
Chr1:160163538 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.100G>A (p.Gly34Arg) single nucleotide variant not provided [RCV003671848] Chr1:160190851 [GRCh38]
Chr1:160160641 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.365-15C>T single nucleotide variant not provided [RCV003861957] Chr1:160193732 [GRCh38]
Chr1:160163522 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.39G>C (p.Pro13=) single nucleotide variant not provided [RCV003564025] Chr1:160190790 [GRCh38]
Chr1:160160580 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.17G>A (p.Arg6Lys) single nucleotide variant not provided [RCV003843324] Chr1:160190768 [GRCh38]
Chr1:160160558 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.280-4C>T single nucleotide variant not provided [RCV003709206] Chr1:160192798 [GRCh38]
Chr1:160162588 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.519dup (p.Glu174Ter) duplication not provided [RCV003565889] Chr1:160195062..160195063 [GRCh38]
Chr1:160164852..160164853 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.321G>C (p.Gly107=) single nucleotide variant not provided [RCV003562403] Chr1:160192843 [GRCh38]
Chr1:160162633 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.883+19G>A single nucleotide variant not provided [RCV003821697] Chr1:160198750 [GRCh38]
Chr1:160168540 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.321G>A (p.Gly107=) single nucleotide variant not provided [RCV003733478] Chr1:160192843 [GRCh38]
Chr1:160162633 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.865G>A (p.Ala289Thr) single nucleotide variant Myopathy due to calsequestrin and SERCA1 protein overload [RCV003992799]|not provided [RCV003841809] Chr1:160198713 [GRCh38]
Chr1:160168503 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.1054A>T (p.Thr352Ser) single nucleotide variant not provided [RCV003563821] Chr1:160199920 [GRCh38]
Chr1:160169710 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.877G>A (p.Asp293Asn) single nucleotide variant not provided [RCV003861998] Chr1:160198725 [GRCh38]
Chr1:160168515 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.783-10T>C single nucleotide variant not provided [RCV003867586] Chr1:160197559 [GRCh38]
Chr1:160167349 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.384C>T (p.Ser128=) single nucleotide variant not provided [RCV003844248] Chr1:160193766 [GRCh38]
Chr1:160163556 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.933T>G (p.Thr311=) single nucleotide variant not provided [RCV003857790] Chr1:160199002 [GRCh38]
Chr1:160168792 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.763T>C (p.Phe255Leu) single nucleotide variant not provided [RCV003820420] Chr1:160196008 [GRCh38]
Chr1:160165798 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.48G>C (p.Arg16=) single nucleotide variant not provided [RCV003720980] Chr1:160190799 [GRCh38]
Chr1:160160589 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.578-18_578-17del microsatellite not provided [RCV003846473] Chr1:160195441..160195442 [GRCh38]
Chr1:160165231..160165232 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.991C>T (p.Pro331Ser) single nucleotide variant not provided [RCV003542250] Chr1:160199857 [GRCh38]
Chr1:160169647 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.466-18A>G single nucleotide variant not provided [RCV003847234] Chr1:160194994 [GRCh38]
Chr1:160164784 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.1176TGA[1] (p.Asp394_Asp396del) microsatellite not provided [RCV003711920] Chr1:160201359..160201367 [GRCh38]
Chr1:160171149..160171157 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.915T>C (p.Ala305=) single nucleotide variant not provided [RCV003542890] Chr1:160198984 [GRCh38]
Chr1:160168774 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.661A>C (p.Lys221Gln) single nucleotide variant not provided [RCV003848049] Chr1:160195906 [GRCh38]
Chr1:160165696 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.576G>A (p.Glu192=) single nucleotide variant not provided [RCV003848282] Chr1:160195122 [GRCh38]
Chr1:160164912 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.234C>G (p.Asp78Glu) single nucleotide variant not provided [RCV003705730] Chr1:160190985 [GRCh38]
Chr1:160160775 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.445A>G (p.Ile149Val) single nucleotide variant not provided [RCV003679564] Chr1:160193827 [GRCh38]
Chr1:160163617 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.782+5G>A single nucleotide variant not provided [RCV003564441] Chr1:160196032 [GRCh38]
Chr1:160165822 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.680A>G (p.Asn227Ser) single nucleotide variant Inborn genetic diseases [RCV004429981] Chr1:160195925 [GRCh38]
Chr1:160165715 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.838A>G (p.Met280Val) single nucleotide variant Inborn genetic diseases [RCV004429983] Chr1:160198686 [GRCh38]
Chr1:160168476 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.808G>A (p.Glu270Lys) single nucleotide variant Inborn genetic diseases [RCV004429982] Chr1:160197594 [GRCh38]
Chr1:160167384 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.1055C>T (p.Thr352Ile) single nucleotide variant Inborn genetic diseases [RCV004429979] Chr1:160199921 [GRCh38]
Chr1:160169711 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.308G>A (p.Gly103Asp) single nucleotide variant Myopathy with tubular aggregates [RCV004587618] Chr1:160192830 [GRCh38]
Chr1:160162620 [GRCh37]
Chr1:1q23.2		 pathogenic
NM_001231.5(CASQ1):c.1089T>G (p.Asp363Glu) single nucleotide variant Inborn genetic diseases [RCV004601036] Chr1:160201274 [GRCh38]
Chr1:160171064 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.189G>C (p.Lys63Asn) single nucleotide variant Inborn genetic diseases [RCV004601039] Chr1:160190940 [GRCh38]
Chr1:160160730 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.365-19C>A single nucleotide variant not specified [RCV004690803] Chr1:160193728 [GRCh38]
Chr1:160163518 [GRCh37]
Chr1:1q23.2		 likely benign
NM_001231.5(CASQ1):c.775C>T (p.His259Tyr) single nucleotide variant Inborn genetic diseases [RCV004601037] Chr1:160196020 [GRCh38]
Chr1:160165810 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_001231.5(CASQ1):c.166A>T (p.Asn56Tyr) single nucleotide variant Myopathy with tubular aggregates [RCV004587619] Chr1:160190917 [GRCh38]
Chr1:160160707 [GRCh37]
Chr1:1q23.2		 pathogenic
NM_001231.5(CASQ1):c.1033C>T (p.Gln345Ter) single nucleotide variant not provided [RCV004763126]   uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1370
Count of miRNA genes:605
Interacting mature miRNAs:685
Transcripts:ENST00000368078, ENST00000368079, ENST00000467691, ENST00000481081
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1357381BW57_HBody weight QTL 57 (human)10.0001Body weightfat free mass after exercise training1140630236166630236Human

Markers in Region
RH79623  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371160,171,417 - 160,171,652UniSTSGRCh37
Build 361158,438,041 - 158,438,276RGDNCBI36
Celera1133,240,177 - 133,240,412RGD
Cytogenetic Map1q21UniSTS
HuRef1131,528,131 - 131,528,366UniSTS
GeneMap99-GB4 RH Map1587.64UniSTS
RH64698  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371160,171,053 - 160,171,237UniSTSGRCh37
Build 361158,437,677 - 158,437,861RGDNCBI36
Celera1133,239,813 - 133,239,997RGD
Cytogenetic Map1q21UniSTS
HuRef1131,527,767 - 131,527,951UniSTS
GeneMap99-GB4 RH Map1584.71UniSTS
NCBI RH Map11438.5UniSTS
RH17912  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371160,171,293 - 160,171,518UniSTSGRCh37
Build 361158,437,917 - 158,438,142RGDNCBI36
Celera1133,240,053 - 133,240,278RGD
Cytogenetic Map1q21UniSTS
HuRef1131,528,007 - 131,528,232UniSTS
GeneMap99-GB4 RH Map1584.71UniSTS
NCBI RH Map11436.5UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2399 2788 2244 4932 1681 2278 4 591 1877 432 2261 7129 6389 46 3705 1 812 1720 1578 173 1

Sequence


Ensembl Acc Id: ENST00000368078   ⟹   ENSP00000357057
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1160,190,575 - 160,201,886 (+)Ensembl
Ensembl Acc Id: ENST00000467691   ⟹   ENSP00000418051
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1160,198,210 - 160,201,493 (+)Ensembl
Ensembl Acc Id: ENST00000481081
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1160,192,638 - 160,199,053 (+)Ensembl
RefSeq Acc Id: NM_001231   ⟹   NP_001222
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381160,190,575 - 160,201,886 (+)NCBI
GRCh371160,160,285 - 160,171,676 (+)RGD
Build 361158,426,989 - 158,438,300 (+)NCBI Archive
Celera1133,229,049 - 133,240,436 (+)RGD
HuRef1131,517,001 - 131,528,390 (+)ENTREZGENE
CHM1_11161,555,636 - 161,567,025 (+)NCBI
T2T-CHM13v2.01159,327,652 - 159,338,962 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001222 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB32063 (Get FASTA)   NCBI Sequence Viewer  
  AAH22289 (Get FASTA)   NCBI Sequence Viewer  
  BAG36060 (Get FASTA)   NCBI Sequence Viewer  
  BAG62390 (Get FASTA)   NCBI Sequence Viewer  
  EAW52736 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000357057
  ENSP00000357057.3
  ENSP00000418051.1
GenBank Protein P31415 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001222   ⟸   NM_001231
- Peptide Label: precursor
- UniProtKB: B2R863 (UniProtKB/Swiss-Prot),   B1AKZ2 (UniProtKB/Swiss-Prot),   Q8TBW7 (UniProtKB/Swiss-Prot),   P31415 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000418051   ⟸   ENST00000467691
Ensembl Acc Id: ENSP00000357057   ⟸   ENST00000368078

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P31415-F1-model_v2 AlphaFold P31415 1-396 view protein structure

Promoters
RGD ID:6857768
Promoter ID:EPDNEW_H2049
Type:initiation region
Name:CASQ1_1
Description:calsequestrin 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
GRCh381160,190,575 - 160,190,635EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1512 AgrOrtholog
COSMIC CASQ1 COSMIC
Ensembl Genes ENSG00000143318 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000368078 ENTREZGENE
  ENST00000368078.8 UniProtKB/Swiss-Prot
  ENST00000467691.1 UniProtKB/TrEMBL
Gene3D-CATH Glutaredoxin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000143318 GTEx
HGNC ID HGNC:1512 ENTREZGENE
Human Proteome Map CASQ1 Human Proteome Map
InterPro Calsequestrin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Calsequestrin_C UniProtKB/Swiss-Prot
  Calsequestrin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Calsequestrin_middle_dom UniProtKB/Swiss-Prot
  Calsequestrin_N UniProtKB/Swiss-Prot
  Thioredoxin-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:844 UniProtKB/Swiss-Prot
NCBI Gene 844 ENTREZGENE
OMIM 114250 OMIM
PANTHER CALSEQUESTRIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CALSEQUESTRIN-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Calsequestrin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB CASQ1 RGD, PharmGKB
PRINTS CALSEQUESTRN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CALSEQUESTRIN_1 UniProtKB/Swiss-Prot
  CALSEQUESTRIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52833 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B1AKZ2 ENTREZGENE
  B2R863 ENTREZGENE
  C9JAC8_HUMAN UniProtKB/TrEMBL
  CASQ1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q8TBW7 ENTREZGENE
UniProt Secondary B1AKZ2 UniProtKB/Swiss-Prot
  B2R863 UniProtKB/Swiss-Prot
  Q8TBW7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 CASQ1  calsequestrin 1  CASQ1  calsequestrin 1 (fast-twitch, skeletal muscle)  Symbol and/or name change 5135510 APPROVED