KLB (klotho beta) - Rat Genome Database

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Gene: KLB (klotho beta) Homo sapiens
Analyze
Symbol: KLB
Name: klotho beta
RGD ID: 1604985
HGNC Page HGNC:15527
Description: Enables fibroblast growth factor binding activity and fibroblast growth factor receptor binding activity. Predicted to be involved in carbohydrate metabolic process. Predicted to act upstream of or within positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway and positive regulation of cell population proliferation. Predicted to be located in plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: b-Klotho; beta-klotho; betaKlotho; BKL; klotho beta like; klotho beta-like protein; MGC142213
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
GRCh38439,406,930 - 39,451,533 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl439,406,930 - 39,451,533 (+)EnsemblGRCh38hg38GRCh38
GRCh37439,408,550 - 39,453,153 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36439,084,868 - 39,126,748 (+)NCBINCBI36Build 36hg18NCBI36
Celera439,846,293 - 39,890,979 (+)NCBICelera
Cytogenetic Map4p14NCBI
HuRef438,733,659 - 38,778,142 (+)NCBIHuRef
CHM1_1439,407,982 - 39,452,605 (+)NCBICHM1_1
T2T-CHM13v2.0439,376,567 - 39,421,181 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
membrane  (IEA)
plasma membrane  (IEA,TAS)

Molecular Function

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

Human Phenotype
Amenorrhea  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Retinitis Pigmentosa: over-expression of anti-ageing protein Klotho in degenerating photoreceptors. Farinelli P, etal., J Neurochem. 2013 Dec;127(6):868-79. doi: 10.1111/jnc.12353. Epub 2013 Jul 22.
2. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:15489334   PMID:16358222   PMID:17623664   PMID:17627937   PMID:17711860   PMID:18259951   PMID:18829467   PMID:19059246   PMID:19117008   PMID:20657013   PMID:20717167  
PMID:20800603   PMID:21396369   PMID:21653700   PMID:21873635   PMID:22020932   PMID:22248288   PMID:22271411   PMID:22439738   PMID:22442730   PMID:22523080   PMID:23383245   PMID:24200957  
PMID:24813368   PMID:25070056   PMID:25727012   PMID:26272615   PMID:27573985   PMID:27911795   PMID:28754744   PMID:29342135   PMID:29438906   PMID:29648978   PMID:29749458   PMID:30021884  
PMID:30302794   PMID:30317562   PMID:30393845   PMID:30698907   PMID:30944224   PMID:31127658   PMID:31184820   PMID:31548436   PMID:31566073   PMID:31586073   PMID:31655133   PMID:31792355  
PMID:32673996   PMID:33640795   PMID:34158479   PMID:35793534   PMID:36168627   PMID:37019912   PMID:37582861   PMID:37660729   PMID:38141848   PMID:39048709   PMID:39226764  


Genomics

Comparative Map Data
KLB
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38439,406,930 - 39,451,533 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl439,406,930 - 39,451,533 (+)EnsemblGRCh38hg38GRCh38
GRCh37439,408,550 - 39,453,153 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36439,084,868 - 39,126,748 (+)NCBINCBI36Build 36hg18NCBI36
Celera439,846,293 - 39,890,979 (+)NCBICelera
Cytogenetic Map4p14NCBI
HuRef438,733,659 - 38,778,142 (+)NCBIHuRef
CHM1_1439,407,982 - 39,452,605 (+)NCBICHM1_1
T2T-CHM13v2.0439,376,567 - 39,421,181 (+)NCBIT2T-CHM13v2.0
Klb
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39565,505,754 - 65,544,300 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl565,505,657 - 65,541,350 (+)EnsemblGRCm39 Ensembl
GRCm38565,348,411 - 65,386,957 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl565,348,314 - 65,384,007 (+)EnsemblGRCm38mm10GRCm38
MGSCv37565,739,650 - 65,775,242 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36565,627,546 - 65,663,138 (+)NCBIMGSCv36mm8
Celera562,625,529 - 62,660,680 (+)NCBICelera
Cytogenetic Map5C3.1NCBI
cM Map533.64NCBI
Klb
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81443,253,963 - 43,304,532 (-)NCBIGRCr8
mRatBN7.21442,899,050 - 42,950,788 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1442,899,510 - 42,950,799 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.01444,529,523 - 44,614,093 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1444,548,287 - 44,613,904 (-)NCBIRnor6.0rn6Rnor6.0
Rnor_5.01444,362,418 - 44,428,134 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41445,598,875 - 45,650,432 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11445,601,737 - 45,652,823 (-)NCBI
Celera1442,059,574 - 42,094,328 (-)NCBICelera
Cytogenetic Map14p11NCBI
Klb
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554437,917,585 - 7,954,322 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554437,917,047 - 7,954,390 (-)NCBIChiLan1.0ChiLan1.0
KLB
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2339,596,718 - 39,640,899 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1439,789,092 - 39,832,938 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0433,736,350 - 33,780,309 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1439,588,702 - 39,632,480 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl439,588,702 - 39,632,480 (+)Ensemblpanpan1.1panPan2
KLB
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1372,996,725 - 73,033,566 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl372,998,816 - 73,033,651 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha375,543,588 - 75,580,413 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0373,770,160 - 73,807,259 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl373,770,190 - 73,807,235 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1373,036,749 - 73,073,594 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0373,183,012 - 73,219,858 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0373,569,554 - 73,606,370 (-)NCBIUU_Cfam_GSD_1.0
Klb
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528539,238,635 - 39,271,423 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364827,026,871 - 7,059,848 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364827,026,871 - 7,060,495 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KLB
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl830,653,572 - 30,691,349 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1830,653,434 - 30,696,123 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2832,268,411 - 32,303,434 (+)NCBISscrofa10.2Sscrofa10.2susScr3
KLB
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12710,860,301 - 10,933,480 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2710,861,760 - 10,903,400 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604757,252,417 - 57,296,756 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Klb
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248704,836,473 - 4,885,950 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248704,835,943 - 4,901,965 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KLB
154 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_175737.3(KLB):c.1908C>T (p.Ser636=) single nucleotide variant Malignant melanoma [RCV000066416] Chr4:39446634 [GRCh38]
Chr4:39448254 [GRCh37]
Chr4:39124649 [NCBI36]
Chr4:4p14		 not provided
GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3 copy number gain See cases [RCV000133677] Chr4:72555..39477144 [GRCh38]
Chr4:72447..39478764 [GRCh37]
Chr4:62447..39155159 [NCBI36]
Chr4:4p16.3-14		 pathogenic
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 copy number gain See cases [RCV000137261] Chr4:36424..47491595 [GRCh38]
Chr4:36424..47493612 [GRCh37]
Chr4:26424..47188369 [NCBI36]
Chr4:4p16.3-12		 pathogenic
GRCh38/hg38 4p14-12(chr4:39444586-46117146)x3 copy number gain See cases [RCV000138039] Chr4:39444586..46117146 [GRCh38]
Chr4:39446206..46119163 [GRCh37]
Chr4:39122601..45813920 [NCBI36]
Chr4:4p14-12		 uncertain significance
GRCh38/hg38 4p14(chr4:39222108-39491610)x3 copy number gain See cases [RCV000141574] Chr4:39222108..39491610 [GRCh38]
Chr4:39223728..39493230 [GRCh37]
Chr4:38900123..39169625 [NCBI36]
Chr4:4p14		 benign
GRCh37/hg19 4p14-11(chr4:38532827-49064044)x3 copy number gain See cases [RCV000240190] Chr4:38532827..49064044 [GRCh37]
Chr4:4p14-11		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 copy number gain See cases [RCV000240562] Chr4:12440..49064044 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not specified [RCV003986479] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain See cases [RCV002292704] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
NM_175737.4(KLB):c.2329_2331del (p.Phe777del) deletion KLB-related disorder [RCV003918226]|not provided [RCV000734462] Chr4:39447053..39447055 [GRCh38]
Chr4:39448673..39448675 [GRCh37]
Chr4:4p14		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 copy number gain See cases [RCV000446451] Chr4:68345..49093788 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 copy number gain See cases [RCV000511193] Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1		 pathogenic
NM_175737.4(KLB):c.527G>A (p.Ser176Asn) single nucleotide variant not provided [RCV003720827]|not specified [RCV004304409] Chr4:39407476 [GRCh38]
Chr4:39409096 [GRCh37]
Chr4:4p14		 likely benign|uncertain significance
NM_175737.4(KLB):c.638C>T (p.Thr213Ile) single nucleotide variant not specified [RCV004293968] Chr4:39407587 [GRCh38]
Chr4:39409207 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.1271G>A (p.Arg424His) single nucleotide variant not specified [RCV004289174] Chr4:39434655 [GRCh38]
Chr4:39436275 [GRCh37]
Chr4:4p14		 likely benign
NM_175737.4(KLB):c.2858C>T (p.Ser953Phe) single nucleotide variant not specified [RCV004303345] Chr4:39448409 [GRCh38]
Chr4:39450029 [GRCh37]
Chr4:4p14		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not provided [RCV000682363] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3 copy number gain not provided [RCV000743201] Chr4:1356924..49659859 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3 copy number gain not provided [RCV000743154] Chr4:49450..46339070 [GRCh37]
Chr4:4p16.3-12		 pathogenic
NM_175737.4(KLB):c.193C>G (p.Pro65Ala) single nucleotide variant not provided [RCV000885179] Chr4:39407142 [GRCh38]
Chr4:39408762 [GRCh37]
Chr4:4p14		 benign
NM_175737.4(KLB):c.497T>C (p.Val166Ala) single nucleotide variant KLB-related disorder [RCV003895421]|not provided [RCV000885160] Chr4:39407446 [GRCh38]
Chr4:39409066 [GRCh37]
Chr4:4p14		 benign|likely benign
NM_175737.4(KLB):c.130C>T (p.Leu44Phe) single nucleotide variant not provided [RCV000880804] Chr4:39407079 [GRCh38]
Chr4:39408699 [GRCh37]
Chr4:4p14		 likely benign
NM_175737.4(KLB):c.1197G>A (p.Ala399=) single nucleotide variant KLB-related disorder [RCV003958099]|not provided [RCV000898541] Chr4:39434581 [GRCh38]
Chr4:39436201 [GRCh37]
Chr4:4p14		 benign
NM_175737.4(KLB):c.2947A>G (p.Thr983Ala) single nucleotide variant KLB-related disorder [RCV003955795]|not provided [RCV000879559] Chr4:39448498 [GRCh38]
Chr4:39450118 [GRCh37]
Chr4:4p14		 likely benign
NM_175737.4(KLB):c.624G>A (p.Gly208=) single nucleotide variant KLB-related disorder [RCV003978059]|not provided [RCV000925183] Chr4:39407573 [GRCh38]
Chr4:39409193 [GRCh37]
Chr4:4p14		 likely benign
NM_175737.4(KLB):c.930G>A (p.Ser310=) single nucleotide variant not provided [RCV000883777] Chr4:39434314 [GRCh38]
Chr4:39435934 [GRCh37]
Chr4:4p14		 benign
NM_175737.4(KLB):c.1956C>G (p.Pro652=) single nucleotide variant KLB-related disorder [RCV003910374]|not provided [RCV000880540] Chr4:39446682 [GRCh38]
Chr4:39448302 [GRCh37]
Chr4:4p14		 likely benign
NM_175737.4(KLB):c.3124G>A (p.Val1042Ile) single nucleotide variant KLB-related disorder [RCV003920793]|not provided [RCV000893191] Chr4:39448675 [GRCh38]
Chr4:39450295 [GRCh37]
Chr4:4p14		 likely benign
GRCh37/hg19 4p14(chr4:39433497-39565064)x3 copy number gain not provided [RCV000849566] Chr4:39433497..39565064 [GRCh37]
Chr4:4p14		 uncertain significance
GRCh37/hg19 4p14(chr4:39423077-39573377)x3 copy number gain not provided [RCV000845714] Chr4:39423077..39573377 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.695G>A (p.Arg232His) single nucleotide variant not specified [RCV004294422] Chr4:39407644 [GRCh38]
Chr4:39409264 [GRCh37]
Chr4:4p14		 uncertain significance
NC_000004.11:g.(?_39187326)_(39478735_?)dup duplication not provided [RCV003105278] Chr4:39187326..39478735 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.1148A>T (p.Asn383Ile) single nucleotide variant not provided [RCV001889163] Chr4:39434532 [GRCh38]
Chr4:39436152 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.2716T>C (p.Tyr906His) single nucleotide variant not provided [RCV000894232] Chr4:39447442 [GRCh38]
Chr4:39449062 [GRCh37]
Chr4:4p14		 benign
NM_175737.4(KLB):c.2604G>T (p.Gly868=) single nucleotide variant not provided [RCV000908696] Chr4:39447330 [GRCh38]
Chr4:39448950 [GRCh37]
Chr4:4p14		 benign
NM_175737.4(KLB):c.3033C>G (p.Leu1011=) single nucleotide variant not provided [RCV000892858] Chr4:39448584 [GRCh38]
Chr4:39450204 [GRCh37]
Chr4:4p14		 benign
NM_175737.4(KLB):c.3058C>A (p.Gln1020Lys) single nucleotide variant KLB-related disorder [RCV003984077]|not provided [RCV001708901] Chr4:39448609 [GRCh38]
Chr4:39450229 [GRCh37]
Chr4:4p14		 benign
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 copy number gain See cases [RCV001194594] Chr4:49450..49620898 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p14(chr4:39116340-40293329)x3 copy number gain not provided [RCV001259839] Chr4:39116340..40293329 [GRCh37]
Chr4:4p14		 uncertain significance
GRCh37/hg19 4p14(chr4:39205299-39489677)x3 copy number gain not provided [RCV001834225] Chr4:39205299..39489677 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.2723G>T (p.Gly908Val) single nucleotide variant Amenorrhea [RCV001849744] Chr4:39447449 [GRCh38]
Chr4:39449069 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.2648T>C (p.Met883Thr) single nucleotide variant not provided [RCV001986473] Chr4:39447374 [GRCh38]
Chr4:39448994 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.647A>G (p.Asp216Gly) single nucleotide variant not provided [RCV001872863] Chr4:39407596 [GRCh38]
Chr4:39409216 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.3025G>A (p.Val1009Ile) single nucleotide variant not provided [RCV001986131]|not specified [RCV004045332] Chr4:39448576 [GRCh38]
Chr4:39450196 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.505G>A (p.Ala169Thr) single nucleotide variant Amenorrhea [RCV001849743] Chr4:39407454 [GRCh38]
Chr4:39409074 [GRCh37]
Chr4:4p14		 uncertain significance
NC_000004.11:g.(?_38765721)_(41750627_?)dup duplication Lipoic acid synthetase deficiency [RCV003107887] Chr4:38765721..41750627 [GRCh37]
Chr4:4p14-13		 uncertain significance
NM_175737.4(KLB):c.74G>A (p.Arg25His) single nucleotide variant not provided [RCV001973823] Chr4:39407023 [GRCh38]
Chr4:39408643 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.2443A>G (p.Lys815Glu) single nucleotide variant not provided [RCV001934224] Chr4:39447169 [GRCh38]
Chr4:39448789 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.26C>A (p.Ser9Tyr) single nucleotide variant KLB-related disorder [RCV003916286]|not provided [RCV002124388] Chr4:39406975 [GRCh38]
Chr4:39408595 [GRCh37]
Chr4:4p14		 benign|likely benign
NM_175737.4(KLB):c.2183G>A (p.Arg728Gln) single nucleotide variant not provided [RCV002127462] Chr4:39446909 [GRCh38]
Chr4:39448529 [GRCh37]
Chr4:4p14		 benign
NM_175737.4(KLB):c.2874C>T (p.Tyr958=) single nucleotide variant not provided [RCV002090412] Chr4:39448425 [GRCh38]
Chr4:39450045 [GRCh37]
Chr4:4p14		 benign
NM_175737.4(KLB):c.2487G>A (p.Arg829=) single nucleotide variant not provided [RCV002205159] Chr4:39447213 [GRCh38]
Chr4:39448833 [GRCh37]
Chr4:4p14		 likely benign
NM_175737.4(KLB):c.1050C>T (p.Ser350=) single nucleotide variant KLB-related disorder [RCV003933588]|not provided [RCV002129150] Chr4:39434434 [GRCh38]
Chr4:39436054 [GRCh37]
Chr4:4p14		 likely benign
NM_175737.4(KLB):c.2240C>T (p.Ala747Val) single nucleotide variant KLB-related disorder [RCV003978696]|not provided [RCV002115725] Chr4:39446966 [GRCh38]
Chr4:39448586 [GRCh37]
Chr4:4p14		 benign
NM_175737.4(KLB):c.2540T>A (p.Ile847Asn) single nucleotide variant not provided [RCV002095207] Chr4:39447266 [GRCh38]
Chr4:39448886 [GRCh37]
Chr4:4p14		 likely benign
NM_175737.4(KLB):c.2196C>G (p.Pro732=) single nucleotide variant not provided [RCV002179853] Chr4:39446922 [GRCh38]
Chr4:39448542 [GRCh37]
Chr4:4p14		 benign
NM_175737.4(KLB):c.1542G>T (p.Thr514=) single nucleotide variant not provided [RCV002161815] Chr4:39437932 [GRCh38]
Chr4:39439552 [GRCh37]
Chr4:4p14		 likely benign
NM_175737.4(KLB):c.420C>G (p.Ala140=) single nucleotide variant not provided [RCV002200616] Chr4:39407369 [GRCh38]
Chr4:39408989 [GRCh37]
Chr4:4p14		 benign
NM_175737.4(KLB):c.3134A>G (p.Ter1045=) single nucleotide variant not provided [RCV002155092] Chr4:39448685 [GRCh38]
Chr4:39450305 [GRCh37]
Chr4:4p14		 likely benign
NC_000004.11:g.(?_38765721)_(39478735_?)dup duplication not provided [RCV003113872] Chr4:38765721..39478735 [GRCh37]
Chr4:4p14		 uncertain significance
GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3 copy number gain FETAL DEMISE [RCV002282978] Chr4:114784..47569569 [GRCh37]
Chr4:4p16.3-12		 pathogenic
NM_175737.4(KLB):c.2304G>C (p.Glu768Asp) single nucleotide variant not specified [RCV004333132] Chr4:39447030 [GRCh38]
Chr4:39448650 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.3086A>T (p.Lys1029Ile) single nucleotide variant Martsolf syndrome 1 [RCV002305664] Chr4:39448637 [GRCh38]
Chr4:39450257 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.878A>T (p.Lys293Met) single nucleotide variant Martsolf syndrome 1 [RCV002305665] Chr4:39434262 [GRCh38]
Chr4:39435882 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.793G>T (p.Ala265Ser) single nucleotide variant not specified [RCV004235391] Chr4:39407742 [GRCh38]
Chr4:39409362 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.872A>G (p.His291Arg) single nucleotide variant not specified [RCV004205202] Chr4:39434256 [GRCh38]
Chr4:39435876 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.2550G>C (p.Leu850=) single nucleotide variant not provided [RCV003075157] Chr4:39447276 [GRCh38]
Chr4:39448896 [GRCh37]
Chr4:4p14		 likely benign
NM_175737.4(KLB):c.2706C>G (p.Leu902=) single nucleotide variant not provided [RCV002903487] Chr4:39447432 [GRCh38]
Chr4:39449052 [GRCh37]
Chr4:4p14		 likely benign
NM_175737.4(KLB):c.2888G>A (p.Ser963Asn) single nucleotide variant not specified [RCV004237505] Chr4:39448439 [GRCh38]
Chr4:39450059 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.1914G>T (p.Met638Ile) single nucleotide variant not specified [RCV004220124] Chr4:39446640 [GRCh38]
Chr4:39448260 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.1468C>T (p.Arg490Trp) single nucleotide variant not specified [RCV004242800] Chr4:39437858 [GRCh38]
Chr4:39439478 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.112T>C (p.Ser38Pro) single nucleotide variant not specified [RCV004102467] Chr4:39407061 [GRCh38]
Chr4:39408681 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.983G>C (p.Gly328Ala) single nucleotide variant not specified [RCV004209513] Chr4:39434367 [GRCh38]
Chr4:39435987 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.59A>G (p.Asp20Gly) single nucleotide variant not specified [RCV004138084] Chr4:39407008 [GRCh38]
Chr4:39408628 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.2491G>T (p.Val831Leu) single nucleotide variant not provided [RCV002885862] Chr4:39447217 [GRCh38]
Chr4:39448837 [GRCh37]
Chr4:4p14		 likely benign
NM_175737.4(KLB):c.2759T>C (p.Ile920Thr) single nucleotide variant not specified [RCV004205594] Chr4:39448310 [GRCh38]
Chr4:39449930 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.2527T>C (p.Ser843Pro) single nucleotide variant not provided [RCV002927146] Chr4:39447253 [GRCh38]
Chr4:39448873 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.17C>T (p.Ala6Val) single nucleotide variant not specified [RCV004123321] Chr4:39406966 [GRCh38]
Chr4:39408586 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.2113G>A (p.Gly705Ser) single nucleotide variant not specified [RCV004183448] Chr4:39446839 [GRCh38]
Chr4:39448459 [GRCh37]
Chr4:4p14		 likely benign
NM_175737.4(KLB):c.2684A>G (p.Gln895Arg) single nucleotide variant not specified [RCV004183853] Chr4:39447410 [GRCh38]
Chr4:39449030 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.1825A>G (p.Thr609Ala) single nucleotide variant not provided [RCV003002171] Chr4:39446551 [GRCh38]
Chr4:39448171 [GRCh37]
Chr4:4p14		 benign
NM_175737.4(KLB):c.2524G>A (p.Asp842Asn) single nucleotide variant not specified [RCV004114822] Chr4:39447250 [GRCh38]
Chr4:39448870 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.3037T>C (p.Ser1013Pro) single nucleotide variant not specified [RCV004201244] Chr4:39448588 [GRCh38]
Chr4:39450208 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.1111G>A (p.Ala371Thr) single nucleotide variant not specified [RCV004110345] Chr4:39434495 [GRCh38]
Chr4:39436115 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.1901G>A (p.Gly634Asp) single nucleotide variant not provided [RCV003660992]|not specified [RCV004174785] Chr4:39446627 [GRCh38]
Chr4:39448247 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.1654G>A (p.Val552Met) single nucleotide variant not specified [RCV004147704] Chr4:39446380 [GRCh38]
Chr4:39448000 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.1817T>C (p.Val606Ala) single nucleotide variant not specified [RCV004168133] Chr4:39446543 [GRCh38]
Chr4:39448163 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.3097C>A (p.His1033Asn) single nucleotide variant not provided [RCV002625198]|not specified [RCV004072014] Chr4:39448648 [GRCh38]
Chr4:39450268 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.967A>G (p.Met323Val) single nucleotide variant not specified [RCV004206000] Chr4:39434351 [GRCh38]
Chr4:39435971 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.1390G>C (p.Asp464His) single nucleotide variant not specified [RCV004171802] Chr4:39437780 [GRCh38]
Chr4:39439400 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.1530A>C (p.Leu510Phe) single nucleotide variant not specified [RCV004185532] Chr4:39437920 [GRCh38]
Chr4:39439540 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.3017C>T (p.Ser1006Phe) single nucleotide variant not specified [RCV004113213] Chr4:39448568 [GRCh38]
Chr4:39450188 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.1854G>A (p.Gln618=) single nucleotide variant not provided [RCV002958661] Chr4:39446580 [GRCh38]
Chr4:39448200 [GRCh37]
Chr4:4p14		 benign
NM_175737.4(KLB):c.2749+1G>A single nucleotide variant not provided [RCV002917279] Chr4:39447476 [GRCh38]
Chr4:39449096 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.1014C>T (p.Gly338=) single nucleotide variant not provided [RCV002941927] Chr4:39434398 [GRCh38]
Chr4:39436018 [GRCh37]
Chr4:4p14		 likely benign
NM_175737.4(KLB):c.536T>C (p.Leu179Pro) single nucleotide variant not provided [RCV002645981] Chr4:39407485 [GRCh38]
Chr4:39409105 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.2129G>A (p.Gly710Glu) single nucleotide variant not specified [RCV004142429] Chr4:39446855 [GRCh38]
Chr4:39448475 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.1999G>A (p.Ala667Thr) single nucleotide variant not specified [RCV004183613] Chr4:39446725 [GRCh38]
Chr4:39448345 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.1044G>A (p.Leu348=) single nucleotide variant not provided [RCV002671721] Chr4:39434428 [GRCh38]
Chr4:39436048 [GRCh37]
Chr4:4p14		 likely benign
NM_175737.4(KLB):c.233A>G (p.Tyr78Cys) single nucleotide variant not provided [RCV002877092] Chr4:39407182 [GRCh38]
Chr4:39408802 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.834G>A (p.Ser278=) single nucleotide variant not provided [RCV003009066] Chr4:39434218 [GRCh38]
Chr4:39435838 [GRCh37]
Chr4:4p14		 likely benign
NM_175737.4(KLB):c.1051G>A (p.Val351Ile) single nucleotide variant not provided [RCV002966943] Chr4:39434435 [GRCh38]
Chr4:39436055 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.1015G>A (p.Asp339Asn) single nucleotide variant not provided [RCV002895323] Chr4:39434399 [GRCh38]
Chr4:39436019 [GRCh37]
Chr4:4p14		 benign
NM_175737.4(KLB):c.464G>T (p.Trp155Leu) single nucleotide variant not specified [RCV004176187] Chr4:39407413 [GRCh38]
Chr4:39409033 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.2724del (p.Lys909fs) deletion not provided [RCV002635888] Chr4:39447448 [GRCh38]
Chr4:39449068 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.1440T>C (p.Tyr480=) single nucleotide variant not provided [RCV002725472] Chr4:39437830 [GRCh38]
Chr4:39439450 [GRCh37]
Chr4:4p14		 likely benign
NM_175737.4(KLB):c.2403G>T (p.Ser801=) single nucleotide variant not provided [RCV002590008] Chr4:39447129 [GRCh38]
Chr4:39448749 [GRCh37]
Chr4:4p14		 likely benign
NM_175737.4(KLB):c.1623G>A (p.Ser541=) single nucleotide variant not provided [RCV002606128] Chr4:39446349 [GRCh38]
Chr4:39447969 [GRCh37]
Chr4:4p14		 likely benign
NM_175737.4(KLB):c.1915G>A (p.Val639Ile) single nucleotide variant not specified [RCV004220125] Chr4:39446641 [GRCh38]
Chr4:39448261 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.2128G>A (p.Gly710Arg) single nucleotide variant not specified [RCV004228710] Chr4:39446854 [GRCh38]
Chr4:39448474 [GRCh37]
Chr4:4p14		 likely benign
NM_175737.4(KLB):c.96C>T (p.Asn32=) single nucleotide variant not provided [RCV002634529] Chr4:39407045 [GRCh38]
Chr4:39408665 [GRCh37]
Chr4:4p14		 likely benign
NM_175737.4(KLB):c.923A>T (p.Asn308Ile) single nucleotide variant not specified [RCV004279101] Chr4:39434307 [GRCh38]
Chr4:39435927 [GRCh37]
Chr4:4p14		 uncertain significance
GRCh37/hg19 4p14(chr4:39245868-39700010)x3 copy number gain not provided [RCV003223174] Chr4:39245868..39700010 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.1841C>T (p.Ala614Val) single nucleotide variant not specified [RCV004261143] Chr4:39446567 [GRCh38]
Chr4:39448187 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.694C>T (p.Arg232Cys) single nucleotide variant not specified [RCV004271583] Chr4:39407643 [GRCh38]
Chr4:39409263 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.2204G>T (p.Arg735Leu) single nucleotide variant not specified [RCV004280730] Chr4:39446930 [GRCh38]
Chr4:39448550 [GRCh37]
Chr4:4p14		 uncertain significance
GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3 copy number gain Neurodevelopmental disorder [RCV003327612] Chr4:2904667..42963232 [GRCh38]
Chr4:4p16.3-13		 pathogenic
GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3 copy number gain Neurodevelopmental disorder [RCV003327613] Chr4:85624..57073230 [GRCh38]
Chr4:4p16.3-q12		 pathogenic
GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3 copy number gain Neurodevelopmental disorder [RCV003327611] Chr4:1..49062177 [GRCh38]
Chr4:4p16.3-11		 pathogenic
NM_175737.4(KLB):c.1804G>T (p.Asp602Tyr) single nucleotide variant not specified [RCV004351190] Chr4:39446530 [GRCh38]
Chr4:39448150 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.206C>T (p.Pro69Leu) single nucleotide variant not specified [RCV004354009] Chr4:39407155 [GRCh38]
Chr4:39408775 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.445T>C (p.Tyr149His) single nucleotide variant not specified [RCV004344480] Chr4:39407394 [GRCh38]
Chr4:39409014 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.2647A>G (p.Met883Val) single nucleotide variant not specified [RCV004355848] Chr4:39447373 [GRCh38]
Chr4:39448993 [GRCh37]
Chr4:4p14		 likely benign
NM_175737.4(KLB):c.1174G>A (p.Val392Ile) single nucleotide variant not specified [RCV004350037] Chr4:39434558 [GRCh38]
Chr4:39436178 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.826-18A>C single nucleotide variant not provided [RCV003569830] Chr4:39434192 [GRCh38]
Chr4:39435812 [GRCh37]
Chr4:4p14		 likely benign
NM_175737.4(KLB):c.1546G>C (p.Asp516His) single nucleotide variant not provided [RCV003570474] Chr4:39437936 [GRCh38]
Chr4:39439556 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.1419C>A (p.Thr473=) single nucleotide variant not provided [RCV003738896] Chr4:39437809 [GRCh38]
Chr4:39439429 [GRCh37]
Chr4:4p14		 likely benign
NM_175737.4(KLB):c.2104A>G (p.Asn702Asp) single nucleotide variant not provided [RCV003738721]|not specified [RCV004374281] Chr4:39446830 [GRCh38]
Chr4:39448450 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.1511G>A (p.Arg504Gln) single nucleotide variant not provided [RCV003573365]|not specified [RCV004369251] Chr4:39437901 [GRCh38]
Chr4:39439521 [GRCh37]
Chr4:4p14		 likely benign|uncertain significance
NM_175737.4(KLB):c.2403G>C (p.Ser801=) single nucleotide variant not provided [RCV003573368] Chr4:39447129 [GRCh38]
Chr4:39448749 [GRCh37]
Chr4:4p14		 likely benign
NM_175737.4(KLB):c.1469G>A (p.Arg490Gln) single nucleotide variant Ocular motility disease [RCV003883450] Chr4:39437859 [GRCh38]
Chr4:39439479 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.1799C>G (p.Ala600Gly) single nucleotide variant not provided [RCV003830742] Chr4:39446525 [GRCh38]
Chr4:39448145 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.748_749insCCAT (p.Tyr250fs) insertion not provided [RCV003697997] Chr4:39407696..39407697 [GRCh38]
Chr4:39409316..39409317 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.493A>G (p.Thr165Ala) single nucleotide variant not provided [RCV003548539] Chr4:39407442 [GRCh38]
Chr4:39409062 [GRCh37]
Chr4:4p14		 benign
NM_175737.4(KLB):c.118A>G (p.Ile40Val) single nucleotide variant not provided [RCV003697363] Chr4:39407067 [GRCh38]
Chr4:39408687 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.2750-4del deletion not provided [RCV003559518] Chr4:39448293 [GRCh38]
Chr4:39449913 [GRCh37]
Chr4:4p14		 benign
NM_175737.4(KLB):c.2194C>G (p.Pro732Ala) single nucleotide variant not provided [RCV003725788] Chr4:39446920 [GRCh38]
Chr4:39448540 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.2290T>C (p.Phe764Leu) single nucleotide variant not provided [RCV003667514] Chr4:39447016 [GRCh38]
Chr4:39448636 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.2418C>T (p.Leu806=) single nucleotide variant not provided [RCV003699629] Chr4:39447144 [GRCh38]
Chr4:39448764 [GRCh37]
Chr4:4p14		 benign
NM_175737.4(KLB):c.946A>G (p.Ile316Val) single nucleotide variant not provided [RCV003553352]|not specified [RCV004369073] Chr4:39434330 [GRCh38]
Chr4:39435950 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.3001G>A (p.Gly1001Ser) single nucleotide variant not provided [RCV003564023] Chr4:39448552 [GRCh38]
Chr4:39450172 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.540C>T (p.Asp180=) single nucleotide variant not provided [RCV003722339] Chr4:39407489 [GRCh38]
Chr4:39409109 [GRCh37]
Chr4:4p14		 benign
NM_175737.4(KLB):c.2073C>G (p.Ile691Met) single nucleotide variant not provided [RCV003737533] Chr4:39446799 [GRCh38]
Chr4:39448419 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.1125A>T (p.Gly375=) single nucleotide variant not provided [RCV003732013] Chr4:39434509 [GRCh38]
Chr4:39436129 [GRCh37]
Chr4:4p14		 likely benign
NM_175737.4(KLB):c.89T>C (p.Met30Thr) single nucleotide variant not provided [RCV003732366] Chr4:39407038 [GRCh38]
Chr4:39408658 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.1605+7G>A single nucleotide variant not provided [RCV003564636] Chr4:39438002 [GRCh38]
Chr4:39439622 [GRCh37]
Chr4:4p14		 likely benign
NM_175737.4(KLB):c.1701G>A (p.Val567=) single nucleotide variant not provided [RCV003719780] Chr4:39446427 [GRCh38]
Chr4:39448047 [GRCh37]
Chr4:4p14		 likely benign
NM_175737.4(KLB):c.3069_3072del (p.Arg1023fs) deletion not provided [RCV003722769] Chr4:39448617..39448620 [GRCh38]
Chr4:39450237..39450240 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.2871T>C (p.Phe957=) single nucleotide variant not provided [RCV003737267] Chr4:39448422 [GRCh38]
Chr4:39450042 [GRCh37]
Chr4:4p14		 likely benign
NM_175737.4(KLB):c.101_102delinsAC (p.Gly34Asp) indel not provided [RCV003733330] Chr4:39407050..39407051 [GRCh38]
Chr4:39408670..39408671 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.1357C>A (p.Arg453=) single nucleotide variant not provided [RCV003721753] Chr4:39437747 [GRCh38]
Chr4:39439367 [GRCh37]
Chr4:4p14		 likely benign
NM_175737.4(KLB):c.1141C>A (p.Pro381Thr) single nucleotide variant not provided [RCV003841008] Chr4:39434525 [GRCh38]
Chr4:39436145 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.84T>C (p.Asn28=) single nucleotide variant not provided [RCV003710714] Chr4:39407033 [GRCh38]
Chr4:39408653 [GRCh37]
Chr4:4p14		 likely benign
NM_175737.4(KLB):c.2417T>G (p.Leu806Arg) single nucleotide variant not provided [RCV003732859] Chr4:39447143 [GRCh38]
Chr4:39448763 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.448C>G (p.Gln150Glu) single nucleotide variant not provided [RCV003819797] Chr4:39407397 [GRCh38]
Chr4:39409017 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.166G>A (p.Asp56Asn) single nucleotide variant KLB-related disorder [RCV003944220] Chr4:39407115 [GRCh38]
Chr4:39408735 [GRCh37]
Chr4:4p14		 likely benign
NM_175737.4(KLB):c.2580G>A (p.Thr860=) single nucleotide variant KLB-related disorder [RCV003927233] Chr4:39447306 [GRCh38]
Chr4:39448926 [GRCh37]
Chr4:4p14		 likely benign
NM_175737.4(KLB):c.738T>C (p.Ala246=) single nucleotide variant KLB-related disorder [RCV003914419] Chr4:39407687 [GRCh38]
Chr4:39409307 [GRCh37]
Chr4:4p14		 likely benign
NM_175737.4(KLB):c.2676del (p.Ile892fs) deletion Male infertility with azoospermia or oligozoospermia due to single gene mutation [RCV003991614] Chr4:39447402 [GRCh38]
Chr4:39449022 [GRCh37]
Chr4:4p14		 likely pathogenic
NM_175737.4(KLB):c.108A>T (p.Gln36His) single nucleotide variant not specified [RCV004406514] Chr4:39407057 [GRCh38]
Chr4:39408677 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.1456A>G (p.Lys486Glu) single nucleotide variant not specified [RCV004406515] Chr4:39437846 [GRCh38]
Chr4:39439466 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.1541C>T (p.Thr514Met) single nucleotide variant not specified [RCV004406516] Chr4:39437931 [GRCh38]
Chr4:39439551 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.2017T>A (p.Tyr673Asn) single nucleotide variant not specified [RCV004406518] Chr4:39446743 [GRCh38]
Chr4:39448363 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.2357T>C (p.Met786Thr) single nucleotide variant not specified [RCV004406520] Chr4:39447083 [GRCh38]
Chr4:39448703 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.2500G>C (p.Glu834Gln) single nucleotide variant not specified [RCV004406522] Chr4:39447226 [GRCh38]
Chr4:39448846 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.3029T>C (p.Leu1010Pro) single nucleotide variant not specified [RCV004406523] Chr4:39448580 [GRCh38]
Chr4:39450200 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.1835T>G (p.Leu612Arg) single nucleotide variant not specified [RCV004406517] Chr4:39446561 [GRCh38]
Chr4:39448181 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.2300T>C (p.Phe767Ser) single nucleotide variant not specified [RCV004406519] Chr4:39447026 [GRCh38]
Chr4:39448646 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.2408T>C (p.Leu803Pro) single nucleotide variant not specified [RCV004406521] Chr4:39447134 [GRCh38]
Chr4:39448754 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.343C>T (p.His115Tyr) single nucleotide variant not specified [RCV004406524] Chr4:39407292 [GRCh38]
Chr4:39408912 [GRCh37]
Chr4:4p14		 uncertain significance
NC_000004.11:g.(?_39435810)_(39478735_?)dup duplication Lipoic acid synthetase deficiency [RCV004580775] Chr4:39435810..39478735 [GRCh37]
Chr4:4p14		 uncertain significance
NC_000004.11:g.(?_39408570)_(39478735_?)dup duplication not provided [RCV004580813] Chr4:39408570..39478735 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.2903C>G (p.Pro968Arg) single nucleotide variant not specified [RCV004637012] Chr4:39448454 [GRCh38]
Chr4:39450074 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.2320G>C (p.Glu774Gln) single nucleotide variant not specified [RCV004637014] Chr4:39447046 [GRCh38]
Chr4:39448666 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.179T>C (p.Ile60Thr) single nucleotide variant not specified [RCV004631520] Chr4:39407128 [GRCh38]
Chr4:39408748 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.2656T>C (p.Tyr886His) single nucleotide variant not specified [RCV004631521] Chr4:39447382 [GRCh38]
Chr4:39449002 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.541G>A (p.Ala181Thr) single nucleotide variant not specified [RCV004637016] Chr4:39407490 [GRCh38]
Chr4:39409110 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.995A>G (p.Asn332Ser) single nucleotide variant not specified [RCV004637013] Chr4:39434379 [GRCh38]
Chr4:39435999 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.2231C>G (p.Ala744Gly) single nucleotide variant not specified [RCV004637015] Chr4:39446957 [GRCh38]
Chr4:39448577 [GRCh37]
Chr4:4p14		 uncertain significance
NM_175737.4(KLB):c.3046A>G (p.Ile1016Val) single nucleotide variant not specified [RCV004631522] Chr4:39448597 [GRCh38]
Chr4:39450217 [GRCh37]
Chr4:4p14		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR34Ahsa-miR-34a-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22988100

Predicted Target Of
Summary Value
Count of predictions:987
Count of miRNA genes:621
Interacting mature miRNAs:699
Transcripts:ENST00000257408
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
406905152GWAS554128_Halcohol consumption measurement QTL GWAS554128 (human)2e-11alcohol consumption measurementethanol drink intake rate (CMO:0001407)43941337339413374Human
407325895GWAS974871_Halpha fetoprotein measurement QTL GWAS974871 (human)0.000006blood alpha-fetoprotein amount (VT:0010776)43942305939423060Human
406985798GWAS634774_Hbitter alcoholic beverage consumption measurement QTL GWAS634774 (human)4e-33bitter alcoholic beverage consumption measurementdrink intake measurement (CMO:0000771)43941337339413374Human
406930501GWAS579477_Halcohol consumption measurement QTL GWAS579477 (human)2e-160alcohol consumption measurementethanol drink intake rate (CMO:0001407)43941337339413374Human
406905157GWAS554133_Halcohol drinking QTL GWAS554133 (human)0.0000007alcohol drinking43941337339413374Human
407073477GWAS722453_Halcohol consumption measurement QTL GWAS722453 (human)2e-42alcohol consumption measurementethanol drink intake rate (CMO:0001407)43941216039412161Human
406930503GWAS579479_Halcohol consumption measurement QTL GWAS579479 (human)4e-47alcohol consumption measurementethanol drink intake rate (CMO:0001407)43941760939417610Human
407009861GWAS658837_Hprotein intake measurement QTL GWAS658837 (human)1e-14eating behavior trait (VT:0001431)43941337339413374Human
407341773GWAS990749_Hurate measurement QTL GWAS990749 (human)3e-10urate measurementblood uric acid level (CMO:0000501)43941337339413374Human
406929612GWAS578588_Halcohol consumption measurement QTL GWAS578588 (human)6e-21alcohol consumption measurementethanol drink intake rate (CMO:0001407)43941337339413374Human
407210186GWAS859162_Halcohol consumption measurement QTL GWAS859162 (human)2e-180alcohol consumption measurementethanol drink intake rate (CMO:0001407)43941216039412161Human
406998733GWAS647709_Halcohol consumption measurement QTL GWAS647709 (human)2e-16alcohol consumption measurementethanol drink intake rate (CMO:0001407)43942362839423629Human
407074129GWAS723105_Hpulse pressure measurement QTL GWAS723105 (human)3e-09pulse pressure measurementpulse pressure (CMO:0000292)43941203039412031Human
407395546GWAS1044522_Htaste liking measurement QTL GWAS1044522 (human)4e-25taste liking measurement43941216039412161Human
406970194GWAS619170_Halcohol consumption measurement QTL GWAS619170 (human)9e-12alcohol consumption measurementethanol drink intake rate (CMO:0001407)43941337339413374Human
407114449GWAS763425_Halcohol consumption measurement QTL GWAS763425 (human)4e-09alcohol consumption measurementethanol drink intake rate (CMO:0001407)43942477539424776Human
406901974GWAS550950_Halcohol consumption measurement QTL GWAS550950 (human)9e-10alcohol consumption measurementethanol drink intake rate (CMO:0001407)43941337339413374Human
406950871GWAS599847_Hprotein measurement QTL GWAS599847 (human)1e-540protein measurement43942558139425582Human
406934746GWAS583722_Halcohol consumption measurement QTL GWAS583722 (human)0.000004alcohol consumption measurementethanol drink intake rate (CMO:0001407)43941337339413374Human
407136479GWAS785455_Hhandedness QTL GWAS785455 (human)0.0000008handedness43944397639443977Human
406885600GWAS534576_Hsystolic blood pressure QTL GWAS534576 (human)0.0000002systolic blood pressuresystolic blood pressure (CMO:0000004)43941203039412031Human
406999137GWAS648113_Halcohol consumption measurement QTL GWAS648113 (human)2e-14alcohol consumption measurementethanol drink intake rate (CMO:0001407)43942362839423629Human
407381089GWAS1030065_Hprotein intake measurement QTL GWAS1030065 (human)4e-12eating behavior trait (VT:0001431)43941216039412161Human
407325292GWAS974268_Halcohol consumption measurement QTL GWAS974268 (human)7e-62alcohol consumption measurementethanol drink intake rate (CMO:0001407)43941337339413374Human
407381093GWAS1030069_Hdiet measurement QTL GWAS1030069 (human)3e-19diet measurementfood intake measurement (CMO:0000772)43941216039412161Human
406991215GWAS640191_Halcohol use disorder measurement QTL GWAS640191 (human)7e-21alcohol use disorder measurement43941337339413374Human
407003762GWAS652738_Halcohol use disorder measurement, longitudinal alcohol consumption measurement QTL GWAS652738 (human)3e-09alcohol use disorder measurement, longitudinal alcohol consumption measurementcalculated drink intake measurement (CMO:0002330)43941936139419362Human
406931953GWAS580929_Halcohol consumption measurement QTL GWAS580929 (human)2e-08alcohol consumption measurementethanol drink intake rate (CMO:0001407)43942477539424776Human
407116150GWAS765126_Halcohol consumption measurement QTL GWAS765126 (human)3e-41alcohol consumption measurementethanol drink intake rate (CMO:0001407)43941337339413374Human
407353332GWAS1002308_Hhigh density lipoprotein cholesterol measurement QTL GWAS1002308 (human)3e-08high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)43941216039412161Human
406898677GWAS547653_Halcohol consumption measurement QTL GWAS547653 (human)2e-22alcohol consumption measurementethanol drink intake rate (CMO:0001407)43942216939422170Human
406947959GWAS596935_Halcohol use disorder measurement, alcohol consumption measurement QTL GWAS596935 (human)2e-47alcohol use disorder measurement, alcohol consumption measurementethanol drink intake rate (CMO:0001407)43942070439420705Human
407371004GWAS1019980_Halcohol consumption measurement, carrier status QTL GWAS1019980 (human)6e-09alcohol consumption measurement, carrier statusethanol drink intake rate (CMO:0001407)43941216039412161Human
407354629GWAS1003605_Hblood urea nitrogen measurement QTL GWAS1003605 (human)2e-20blood urea nitrogen measurementblood urea nitrogen level (CMO:0000049)43941216039412161Human
407250052GWAS899028_Hlevel of beta-klotho in blood serum QTL GWAS899028 (human)5e-56level of beta-klotho in blood serum43943112739431128Human
406902021GWAS550997_Halcohol consumption measurement QTL GWAS550997 (human)8e-19alcohol consumption measurementethanol drink intake rate (CMO:0001407)43941337339413374Human
407059082GWAS708058_Halcohol consumption measurement QTL GWAS708058 (human)6e-16alcohol consumption measurementethanol drink intake rate (CMO:0001407)43942062239420623Human
407253258GWAS902234_Hfatty acid measurement QTL GWAS902234 (human)1e-08fatty acid measurement43941337339413374Human
407250824GWAS899800_Hlevel of beta-klotho in blood serum QTL GWAS899800 (human)1e-205level of beta-klotho in blood serum43944778639447787Human
406902032GWAS551008_Halcohol consumption measurement QTL GWAS551008 (human)6e-18alcohol consumption measurementethanol drink intake rate (CMO:0001407)43941337339413374Human
406900625GWAS549601_Halcohol consumption measurement, alcohol drinking QTL GWAS549601 (human)0.0000001alcohol consumption measurement, alcohol drinkingethanol drink intake rate (CMO:0001407)43941337339413374Human
407075474GWAS724450_Hblood urea nitrogen measurement QTL GWAS724450 (human)3e-12blood urea nitrogen measurementblood urea nitrogen level (CMO:0000049)43941337339413374Human
407394717GWAS1043693_Hserum gamma-glutamyl transferase measurement QTL GWAS1043693 (human)3e-27serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)43941216039412161Human
407117458GWAS766434_Halcohol consumption measurement QTL GWAS766434 (human)4e-64alcohol consumption measurementethanol drink intake rate (CMO:0001407)43941337339413374Human
406991252GWAS640228_Halcohol use disorder measurement QTL GWAS640228 (human)3e-09alcohol use disorder measurement43942189239421893Human
407024154GWAS673130_Halcohol consumption measurement QTL GWAS673130 (human)9e-188alcohol consumption measurementethanol drink intake rate (CMO:0001407)43941337339413374Human
407291423GWAS940399_Hphospholipid measurement, high density lipoprotein cholesterol measurement QTL GWAS940399 (human)8e-10lipid measurement, high density lipoprotein cholesterol measurementblood lipid measurement (CMO:0000050)43941337339413374Human
407024155GWAS673131_Halcohol consumption measurement QTL GWAS673131 (human)1e-32alcohol consumption measurementethanol drink intake rate (CMO:0001407)43942276539422766Human
406991260GWAS640236_Halcohol consumption measurement QTL GWAS640236 (human)5e-17alcohol consumption measurementethanol drink intake rate (CMO:0001407)43941337339413374Human
407114660GWAS763636_Halcohol consumption measurement QTL GWAS763636 (human)2e-10alcohol consumption measurementethanol drink intake rate (CMO:0001407)43943809939438100Human
406981283GWAS630259_Halcohol consumption measurement QTL GWAS630259 (human)3e-68alcohol consumption measurementethanol drink intake rate (CMO:0001407)43941337339413374Human
406991267GWAS640243_Halcohol dependence measurement QTL GWAS640243 (human)1e-09free cholesterol measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)43941337339413374Human
407050784GWAS699760_Halcohol use disorder measurement QTL GWAS699760 (human)2e-18alcohol use disorder measurement43942216939422170Human
406904997GWAS553973_Halcohol consumption measurement QTL GWAS553973 (human)4e-08urate measurementblood uric acid level (CMO:0000501)43941337339413374Human
406899752GWAS548728_Halcohol consumption measurement QTL GWAS548728 (human)1e-19alcohol consumption measurementethanol drink intake rate (CMO:0001407)43942216939422170Human
407365293GWAS1014269_Halcohol use disorder measurement, longitudinal alcohol consumption measurement QTL GWAS1014269 (human)1e-19alcohol use disorder measurement, longitudinal alcohol consumption measurementcalculated drink intake measurement (CMO:0002330)43941216039412161Human
407255210GWAS904186_Hfatty acid measurement QTL GWAS904186 (human)2e-09fatty acid measurement43941337339413374Human
406947891GWAS596867_Halcohol consumption measurement QTL GWAS596867 (human)2e-56alcohol consumption measurementethanol drink intake rate (CMO:0001407)43941936139419362Human
406911415GWAS560391_Halcohol consumption measurement QTL GWAS560391 (human)7e-11alcohol consumption measurementethanol drink intake rate (CMO:0001407)43941216039412161Human
407335728GWAS984704_Huric acid measurement QTL GWAS984704 (human)4e-09uric acid measurementblood uric acid level (CMO:0000501)43941337339413374Human
407333680GWAS982656_HIGF-1 measurement QTL GWAS982656 (human)1e-09IGF-1 measurementblood insulin-like growth factor 1 level (CMO:0001297)43941937439419375Human
407415344GWAS1064320_Hpulse pressure measurement QTL GWAS1064320 (human)0.0000003pulse pressure measurementpulse pressure (CMO:0000292)43941203039412031Human
406889657GWAS538633_Hlifestyle measurement QTL GWAS538633 (human)9e-10lifestyle measurement43941132839411329Human
407123261GWAS772237_Halcohol consumption measurement QTL GWAS772237 (human)1e-08alcohol consumption measurementethanol drink intake rate (CMO:0001407)43941734539417346Human
407170239GWAS819215_Hserum gamma-glutamyl transferase measurement QTL GWAS819215 (human)3e-23serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)43941337339413374Human
407016895GWAS665871_Hurate measurement QTL GWAS665871 (human)2e-08urate measurementblood uric acid level (CMO:0000501)43941337339413374Human
407357625GWAS1006601_Hserum gamma-glutamyl transferase measurement QTL GWAS1006601 (human)1e-17serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)43941216039412161Human

Markers in Region
RH104245  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37439,449,535 - 39,449,667UniSTSGRCh37
Build 36439,125,930 - 39,126,062RGDNCBI36
Celera439,887,359 - 39,887,491RGD
Cytogenetic Map4p14UniSTS
HuRef438,774,521 - 38,774,653UniSTS
GeneMap99-GB4 RH Map4193.98UniSTS
SHGC-67244  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37439,450,443 - 39,450,606UniSTSGRCh37
Build 36439,126,838 - 39,127,001RGDNCBI36
Celera439,888,267 - 39,888,430RGD
Cytogenetic Map4p14UniSTS
HuRef438,775,429 - 38,775,592UniSTS
TNG Radiation Hybrid Map446582.0UniSTS
GeneMap99-GB4 RH Map4187.33UniSTS
NCBI RH Map4499.7UniSTS
D15S1477  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q32-q35UniSTS
Cytogenetic Map5q11UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map2q31UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q11.21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map1q31.3UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map3p25-p24UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map3p12UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map6p21.1-p12.2UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map14q11.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p22.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map15q21-q23UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map11q12UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map17qUniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map6p24.2UniSTS
RH36905  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map18p11.3-p11.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map3q27-q28UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map3q26.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map3q12.2-q12.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q12-q13.1UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map9q31.1UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map10q21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map10q24.1UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map10q25-q26UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map16q22.1UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
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Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS


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
1204 2376 2729 2107 4903 1697 2303 4 619 1677 462 2245 6800 6019 39 3691 817 1694 1574 170

Sequence


Ensembl Acc Id: ENST00000257408   ⟹   ENSP00000257408
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl439,406,930 - 39,451,533 (+)Ensembl
RefSeq Acc Id: NM_175737   ⟹   NP_783864
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38439,406,930 - 39,451,533 (+)NCBI
GRCh37439,408,473 - 39,453,153 (+)ENTREZGENE
Build 36439,084,868 - 39,126,748 (+)NCBI Archive
HuRef438,733,659 - 38,778,142 (+)ENTREZGENE
CHM1_1439,407,982 - 39,452,605 (+)NCBI
T2T-CHM13v2.0439,376,567 - 39,421,181 (+)NCBI
Sequence:
RefSeq Acc Id: NP_783864   ⟸   NM_175737
- UniProtKB: Q2M3K8 (UniProtKB/Swiss-Prot),   Q86Z14 (UniProtKB/Swiss-Prot),   B7ZL50 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000257408   ⟸   ENST00000257408

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q86Z14-F1-model_v2 AlphaFold Q86Z14 1-1044 view protein structure

Promoters
RGD ID:6867252
Promoter ID:EPDNEW_H6791
Type:multiple initiation site
Name:KLB_1
Description:klotho beta
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
GRCh38439,406,930 - 39,406,990EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15527 AgrOrtholog
COSMIC KLB COSMIC
Ensembl Genes ENSG00000134962 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000257408 ENTREZGENE
  ENST00000257408.5 UniProtKB/Swiss-Prot
Gene3D-CATH Glycosidases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000134962 GTEx
HGNC ID HGNC:15527 ENTREZGENE
Human Proteome Map KLB Human Proteome Map
InterPro Glyco_hydro_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glycoside_hydrolase_SF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:152831 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 152831 ENTREZGENE
OMIM 611135 OMIM
PANTHER BETA-KLOTHO UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10353 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Glyco_hydro_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142671586 PharmGKB
PRINTS GLHYDRLASE1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51445 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4DYH5_HUMAN UniProtKB/TrEMBL
  B7ZL50 ENTREZGENE, UniProtKB/TrEMBL
  KLOTB_HUMAN UniProtKB/Swiss-Prot
  Q2M3K8 ENTREZGENE
  Q49AQ7_HUMAN UniProtKB/TrEMBL
  Q86Z14 ENTREZGENE
UniProt Secondary Q2M3K8 UniProtKB/Swiss-Prot