KISS1R (KISS1 receptor) - Rat Genome Database

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Pathways
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Gene: KISS1R (KISS1 receptor) Homo sapiens
Analyze
Symbol: KISS1R
Name: KISS1 receptor
RGD ID: 731975
HGNC Page HGNC:4510
Description: Enables neuropeptide receptor activity. Predicted to be involved in neuropeptide signaling pathway. Predicted to act upstream of or within negative regulation of cell migration; negative regulation of cell population proliferation; and signal transduction. Located in cilium; intracellular membrane-bounded organelle; and plasma membrane. Implicated in central precocious puberty 1; hypogonadism; and hypogonadotropic hypogonadism 8 with or without anosmia. Biomarker of breast cancer; papillary carcinoma; and transitional cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AXOR12; CPPB1; G protein-coupled receptor 54; G-protein coupled receptor 54; G-protein coupled receptor OT7T175; GPR54; HH8; HOT7T175; hypogonadotropin-1; kiSS-1 receptor; KISS-1R; kisspeptins receptor; metastin receptor
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
GRCh3819917,333 - 921,005 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl19917,287 - 921,005 (+)EnsemblGRCh38hg38GRCh38
GRCh3719917,333 - 921,005 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3619868,358 - 872,013 (+)NCBINCBI36Build 36hg18NCBI36
Build 3419868,502 - 872,001NCBI
Celera19849,702 - 853,371 (+)NCBICelera
Cytogenetic Map19p13.3NCBI
HuRef19690,992 - 694,661 (+)NCBIHuRef
CHM1_119916,929 - 920,598 (+)NCBICHM1_1
T2T-CHM13v2.019880,072 - 883,744 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormality of body height  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the genitourinary system  (IAGP)
Abnormality of the voice  (IAGP)
Absence of pubertal development  (IAGP)
Absence of secondary sex characteristics  (IAGP)
Anosmia  (IAGP)
Anxiety  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Azoospermia  (IAGP)
Bilateral cryptorchidism  (IAGP)
Breast hypoplasia  (IAGP)
Camptodactyly  (IAGP)
Cleft palate  (IAGP)
Congenital sensorineural hearing impairment  (IAGP)
Cryptorchidism  (IAGP)
Decreased circulating follicle stimulating hormone concentration  (IAGP)
Decreased circulating luteinizing hormone level  (IAGP)
Decreased serum testosterone concentration  (IAGP)
Decreased testicular size  (IAGP)
Delayed puberty  (IAGP)
Delayed skeletal maturation  (IAGP)
Depressed nasal bridge  (IAGP)
Depression  (IAGP)
Elevated circulating follicle stimulating hormone level  (IAGP)
Elevated circulating luteinizing hormone level  (IAGP)
Eunuchoid habitus  (IAGP)
Female hypogonadism  (IAGP)
Generalized joint hypermobility  (IAGP)
Gynecomastia  (IAGP)
Hypertelorism  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypoplasia of the ovary  (IAGP)
Hypoplasia of the uterus  (IAGP)
Hypothyroidism  (IAGP)
Impotence  (IAGP)
Increased female libido  (IAGP)
Isosexual precocious puberty  (IAGP)
Juvenile onset  (IAGP)
Male hypogonadism  (IAGP)
Micropenis  (IAGP)
Non-obstructive azoospermia  (IAGP)
Osteopenia  (IAGP)
Osteoporosis  (IAGP)
Phenotypic abnormality  (IAGP)
Primary amenorrhea  (IAGP)
Secondary amenorrhea  (IAGP)
Short stature  (IAGP)
Sparse body hair  (IAGP)
Wide intermamillary distance  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54. de Roux N, etal., Proc Natl Acad Sci U S A. 2003 Sep 16;100(19):10972-6. Epub 2003 Aug 27.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Discovery of a receptor related to the galanin receptors. Lee DK, etal., FEBS Lett 1999 Mar 5;446(1):103-7.
4. High tumoral levels of Kiss1 and G-protein-coupled receptor 54 expression are correlated with poor prognosis of estrogen receptor-positive breast tumors. Marot D, etal., Endocr Relat Cancer. 2007 Sep;14(3):691-702.
5. Metastin (KISS-1) and metastin-coupled receptor (GPR54) expression in transitional cell carcinoma of the bladder. Nicolle G, etal., Ann Oncol. 2007 Mar;18(3):605-7. Epub 2006 Dec 12.
6. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
7. Online Mendelian Inheritance in Man, OMIM (TM). Online Mendelian Inheritance in Man, OMIM (TM).
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
11. Metastin receptor is overexpressed in papillary thyroid cancer and activates MAP kinase in thyroid cancer cells. Ringel MD, etal., J Clin Endocrinol Metab. 2002 May;87(5):2399.
Additional References at PubMed
PMID:11385580   PMID:11387329   PMID:11414709   PMID:11457843   PMID:11527393   PMID:12414911   PMID:12477932   PMID:12788881   PMID:12879005   PMID:12898236   PMID:14573733   PMID:14977840  
PMID:15020672   PMID:15057824   PMID:15519892   PMID:15596153   PMID:15598687   PMID:16034182   PMID:16309735   PMID:16322390   PMID:16731583   PMID:16754659   PMID:17023533   PMID:17334928  
PMID:17700012   PMID:18005407   PMID:18395325   PMID:18463157   PMID:18583061   PMID:18682503   PMID:18772143   PMID:18977201   PMID:19112386   PMID:19201817   PMID:19286835   PMID:19331211  
PMID:19453261   PMID:19489874   PMID:19506390   PMID:19846537   PMID:20237166   PMID:20301509   PMID:20371656   PMID:20374724   PMID:20734064   PMID:21169415   PMID:21193544   PMID:21282360  
PMID:21285314   PMID:21873635   PMID:21912371   PMID:21996032   PMID:22132116   PMID:22193294   PMID:22210725   PMID:22424618   PMID:22526494   PMID:22619348   PMID:23015653   PMID:23070548  
PMID:23277422   PMID:23349759   PMID:23525242   PMID:23550000   PMID:23550001   PMID:23550005   PMID:23608644   PMID:23696833   PMID:23716269   PMID:23950571   PMID:23969598   PMID:24104479  
PMID:24225150   PMID:24295737   PMID:24434351   PMID:24596387   PMID:24817066   PMID:24908069   PMID:25260785   PMID:25262569   PMID:25535062   PMID:25667462   PMID:26010933   PMID:26199944  
PMID:26211894   PMID:26471489   PMID:26510589   PMID:26572251   PMID:26721186   PMID:26879207   PMID:27094476   PMID:27271543   PMID:27649089   PMID:27914139   PMID:28154160   PMID:28411243  
PMID:28422142   PMID:29552764   PMID:30003725   PMID:30004037   PMID:30339828   PMID:30595091   PMID:30635063   PMID:30729125   PMID:30993114   PMID:31073722   PMID:31821609   PMID:32014912  
PMID:32034133   PMID:32160304   PMID:32228714   PMID:32352843   PMID:33089319   PMID:33275081   PMID:33539880   PMID:33609696   PMID:35224894   PMID:35345369   PMID:35903815   PMID:35993609  
PMID:36316037   PMID:37047030   PMID:37105233  


Genomics

Comparative Map Data
KISS1R
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3819917,333 - 921,005 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl19917,287 - 921,005 (+)EnsemblGRCh38hg38GRCh38
GRCh3719917,333 - 921,005 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3619868,358 - 872,013 (+)NCBINCBI36Build 36hg18NCBI36
Build 3419868,502 - 872,001NCBI
Celera19849,702 - 853,371 (+)NCBICelera
Cytogenetic Map19p13.3NCBI
HuRef19690,992 - 694,661 (+)NCBIHuRef
CHM1_119916,929 - 920,598 (+)NCBICHM1_1
T2T-CHM13v2.019880,072 - 883,744 (+)NCBIT2T-CHM13v2.0
Kiss1r
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391079,752,786 - 79,759,922 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1079,752,805 - 79,758,107 (+)EnsemblGRCm39 Ensembl
GRCm381079,916,952 - 79,924,088 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1079,916,971 - 79,922,273 (+)EnsemblGRCm38mm10GRCm38
MGSCv371079,379,716 - 79,385,018 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361079,320,100 - 79,325,312 (+)NCBIMGSCv36mm8
Celera1080,931,781 - 80,937,083 (+)NCBICelera
Cytogenetic Map10C1NCBI
cM Map1039.72NCBI
Kiss1r
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8710,435,766 - 10,439,424 (-)NCBIGRCr8
mRatBN7.279,785,135 - 9,790,283 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl79,785,135 - 9,788,793 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx712,667,118 - 12,670,776 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0714,542,438 - 14,546,096 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0712,403,615 - 12,407,273 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0712,606,210 - 12,609,868 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl712,606,210 - 12,609,868 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0712,776,069 - 12,779,416 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4711,297,840 - 11,301,187 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1711,297,839 - 11,301,187 (-)NCBI
Celera77,960,079 - 7,963,737 (-)NCBICelera
Cytogenetic Map7q11NCBI
Kiss1r
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554956,918,632 - 6,921,891 (-)NCBIChiLan1.0ChiLan1.0
KISS1R
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2205,247,832 - 5,251,613 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1194,487,168 - 4,491,344 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v019211,563 - 215,332 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.119889,152 - 891,739 (+)NCBIpanpan1.1PanPan1.1panPan2
KISS1R
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12057,756,046 - 57,758,940 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2057,756,197 - 57,758,940 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2057,558,011 - 57,560,904 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02058,498,289 - 58,501,191 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2058,498,289 - 58,501,191 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12057,553,142 - 57,556,035 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02058,032,791 - 58,035,680 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02058,235,792 - 58,238,682 (-)NCBIUU_Cfam_GSD_1.0
Kiss1r
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118217,446,523 - 217,452,872 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936588384,195 - 386,820 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936588384,195 - 387,625 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KISS1R
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl277,472,362 - 77,479,204 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1277,472,361 - 77,479,204 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2277,518,436 - 77,525,279 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap2q21-q24NCBI
KISS1R
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.16666,386 - 670,833 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl6667,210 - 670,563 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660818,246,899 - 8,251,354 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kiss1r
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248287,677,395 - 7,680,355 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248287,677,467 - 7,680,508 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KISS1R
106 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_000019.9:g.(?_852323)_(1207208_?)dup duplication Peutz-Jeghers syndrome [RCV000527991] Chr19:852323..1207208 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_032551.5(KISS1R):c.443T>C (p.Leu148Ser) single nucleotide variant Hypogonadotropic hypogonadism 8 without anosmia [RCV000030878] Chr19:919563 [GRCh38]
Chr19:919563 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_032551.5(KISS1R):c.991C>T (p.Arg331Ter) single nucleotide variant Hypogonadotropic hypogonadism 8 without anosmia [RCV000030879] Chr19:920542 [GRCh38]
Chr19:920542 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_032551.5(KISS1R):c.1195T>A (p.Ter399Arg) single nucleotide variant Hypogonadotropic hypogonadism 8 without anosmia [RCV000030880]|KISS1R-related condition [RCV003944803]|not provided [RCV001851690] Chr19:920746 [GRCh38]
Chr19:920746 [GRCh37]
Chr19:19p13.3		 pathogenic|likely pathogenic
NM_032551.5(KISS1R):c.739-6_887del deletion Hypogonadotropic hypogonadism 8 without anosmia [RCV000030881] Chr19:920277..920431 [GRCh38]
Chr19:920277..920431 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_032551.5(KISS1R):c.305T>C (p.Leu102Pro) single nucleotide variant Centra precocious puberty 1 [RCV001197427]|Hypogonadotropic hypogonadism 8 without anosmia [RCV000030882]|not provided [RCV001311147] Chr19:918604 [GRCh38]
Chr19:918604 [GRCh37]
Chr19:19p13.3		 pathogenic|likely pathogenic
NM_032551.5(KISS1R):c.1157G>C (p.Arg386Pro) single nucleotide variant Centra precocious puberty 1 [RCV000006116]|not provided [RCV000489218] Chr19:920708 [GRCh38]
Chr19:920708 [GRCh37]
Chr19:19p13.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_032551.5(KISS1R):c.581C>A (p.Ala194Asp) single nucleotide variant Hypogonadotropic hypogonadism 8 with or without anosmia [RCV000043601]|not provided [RCV002514181] Chr19:919949 [GRCh38]
Chr19:919949 [GRCh37]
Chr19:19p13.3		 risk factor|uncertain significance
GRCh38/hg38 19p13.3(chr19:259395-2555149)x3 copy number gain See cases [RCV000051044] Chr19:259395..2555149 [GRCh38]
Chr19:259395..2555147 [GRCh37]
Chr19:210395..2506147 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|See cases [RCV000052876] Chr19:265917..8564134 [GRCh38]
Chr19:265917..8629018 [GRCh37]
Chr19:216917..8535018 [NCBI36]
Chr19:19p13.3-13.2		 pathogenic
GRCh38/hg38 19p13.3(chr19:591812-1358152)x3 copy number gain See cases [RCV000052877] Chr19:591812..1358152 [GRCh38]
Chr19:591812..1358151 [GRCh37]
Chr19:542812..1309151 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:259395-1952650)x3 copy number gain See cases [RCV000052875] Chr19:259395..1952650 [GRCh38]
Chr19:259395..1952649 [GRCh37]
Chr19:210395..1903649 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:233565-4699472)x3 copy number gain See cases [RCV000052575] Chr19:233565..4699472 [GRCh38]
Chr19:233565..4699484 [GRCh37]
Chr19:184565..4650484 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:259195-1351363)x1 copy number loss See cases [RCV000053910] Chr19:259195..1351363 [GRCh38]
Chr19:259195..1351362 [GRCh37]
Chr19:210195..1302362 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:266117-1076399)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053911]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053911]|See cases [RCV000053911] Chr19:266117..1076399 [GRCh38]
Chr19:266117..1076398 [GRCh37]
Chr19:217117..1027398 [NCBI36]
Chr19:19p13.3		 pathogenic
NM_032551.5(KISS1R):c.167del (p.Gly56fs) deletion not provided [RCV000056252] Chr19:917667 [GRCh38]
Chr19:917667 [GRCh37]
Chr19:19p13.3		 not provided
NM_032551.5(KISS1R):c.937T>C (p.Tyr313His) single nucleotide variant Hypogonadotropic hypogonadism 8 without anosmia [RCV000144561] Chr19:920488 [GRCh38]
Chr19:920488 [GRCh37]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:839492-995558)x1 copy number loss See cases [RCV000134491] Chr19:839492..995558 [GRCh38]
Chr19:839492..995557 [GRCh37]
Chr19:790492..946557 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:421537-2897921)x3 copy number gain See cases [RCV000134894] Chr19:421537..2897921 [GRCh38]
Chr19:421537..2897919 [GRCh37]
Chr19:372537..2848919 [NCBI36]
Chr19:19p13.3		 likely pathogenic
GRCh38/hg38 19p13.3(chr19:259395-2068507)x3 copy number gain See cases [RCV000135433] Chr19:259395..2068507 [GRCh38]
Chr19:259395..2068506 [GRCh37]
Chr19:210395..2019506 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:786550-1297500)x1 copy number loss See cases [RCV000136733] Chr19:786550..1297500 [GRCh38]
Chr19:786550..1297499 [GRCh37]
Chr19:737550..1248499 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:275925-1892276)x3 copy number gain See cases [RCV000141358] Chr19:275925..1892276 [GRCh38]
Chr19:275925..1892275 [GRCh37]
Chr19:226925..1843275 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:259395-6795611)x3 copy number gain See cases [RCV000142627] Chr19:259395..6795611 [GRCh38]
Chr19:259395..6795622 [GRCh37]
Chr19:210395..6746622 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3(chr19:823554-1206859)x3 copy number gain See cases [RCV000203438] Chr19:823554..1206859 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_032551.5(KISS1R):c.565G>A (p.Ala189Thr) single nucleotide variant not provided [RCV000224427]|not specified [RCV000425031] Chr19:919933 [GRCh38]
Chr19:919933 [GRCh37]
Chr19:19p13.3		 benign|likely benign
GRCh37/hg19 19p13.3(chr19:260912-1163934)x3 copy number gain See cases [RCV000239425] Chr19:260912..1163934 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_032551.5(KISS1R):c.1091T>A (p.Leu364His) single nucleotide variant Centra precocious puberty 1 [RCV003483648]|Hypogonadotropic hypogonadism 8 with or without anosmia [RCV001544201]|not provided [RCV001613338]|not specified [RCV000517624] Chr19:920642 [GRCh38]
Chr19:920642 [GRCh37]
Chr19:19p13.3		 likely pathogenic|benign
GRCh37/hg19 19p13.3(chr19:277373-2555164)x3 copy number gain See cases [RCV000240507] Chr19:277373..2555164 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_032551.5(KISS1R):c.24A>G (p.Gly8=) single nucleotide variant Hypogonadotropic hypogonadism 8 with or without anosmia [RCV001544200]|not provided [RCV000712152]|not specified [RCV000371565] Chr19:917526 [GRCh38]
Chr19:917526 [GRCh37]
Chr19:19p13.3		 benign
NM_032551.5(KISS1R):c.890G>T (p.Arg297Leu) single nucleotide variant Bilateral cryptorchidism [RCV000845180]|not provided [RCV000342759] Chr19:920441 [GRCh38]
Chr19:920441 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:259395-3152419) copy number gain Global developmental delay [RCV000626520] Chr19:259395..3152419 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_032551.5(KISS1R):c.472C>G (p.Leu158Val) single nucleotide variant not provided [RCV000591052] Chr19:919592 [GRCh38]
Chr19:919592 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_032551.5(KISS1R):c.1155G>A (p.Ala385=) single nucleotide variant Centra precocious puberty 1 [RCV002506025]|not provided [RCV001712363]|not specified [RCV000428740] Chr19:920706 [GRCh38]
Chr19:920706 [GRCh37]
Chr19:19p13.3		 benign|likely benign
NM_032551.5(KISS1R):c.1167C>A (p.Cys389Ter) single nucleotide variant not provided [RCV001584214]|not specified [RCV000499713] Chr19:920718 [GRCh38]
Chr19:920718 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-1965786)x3 copy number gain See cases [RCV000511452] Chr19:260911..1965786 [GRCh37]
Chr19:19p13.3		 likely pathogenic
GRCh37/hg19 19p13.3(chr19:415092-715725)x3 copy number gain See cases [RCV000511102] Chr19:415092..715725 [GRCh37]
Chr19:19p13.3		 likely benign
NM_032551.5(KISS1R):c.503T>C (p.Val168Ala) single nucleotide variant Inborn genetic diseases [RCV003254249] Chr19:919623 [GRCh38]
Chr19:919623 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_032551.5(KISS1R):c.316C>T (p.Pro106Ser) single nucleotide variant Inborn genetic diseases [RCV003291456] Chr19:918615 [GRCh38]
Chr19:918615 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_032551.5(KISS1R):c.157A>T (p.Met53Leu) single nucleotide variant Inborn genetic diseases [RCV003263662] Chr19:917659 [GRCh38]
Chr19:917659 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_032551.5(KISS1R):c.875G>A (p.Gly292Asp) single nucleotide variant Inborn genetic diseases [RCV003292582] Chr19:920426 [GRCh38]
Chr19:920426 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_032551.5(KISS1R):c.291C>T (p.Pro97=) single nucleotide variant not provided [RCV000890942] Chr19:918590 [GRCh38]
Chr19:918590 [GRCh37]
Chr19:19p13.3		 benign|likely benign
NM_032551.5(KISS1R):c.615A>C (p.Ala205=) single nucleotide variant not provided [RCV000887113]|not specified [RCV000613594] Chr19:919983 [GRCh38]
Chr19:919983 [GRCh37]
Chr19:19p13.3		 benign
NM_032551.5(KISS1R):c.333C>T (p.Gly111=) single nucleotide variant KISS1R-related condition [RCV003905645]|not provided [RCV000969109] Chr19:918632 [GRCh38]
Chr19:918632 [GRCh37]
Chr19:19p13.3		 benign|likely benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
GRCh37/hg19 19p13.3(chr19:266117-1094614)x3 copy number gain not provided [RCV000513059] Chr19:266117..1094614 [GRCh37]
Chr19:19p13.3		 likely pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_032551.5(KISS1R):c.574A>G (p.Ser192Gly) single nucleotide variant not provided [RCV000658095] Chr19:919942 [GRCh38]
Chr19:919942 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:715724-1438636)x3 copy number gain not provided [RCV000684086] Chr19:715724..1438636 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-3200875)x3 copy number gain not provided [RCV000684094] Chr19:260911..3200875 [GRCh37]
Chr19:19p13.3		 pathogenic
NC_000019.9:g.(?_852319)_(1226656_?)dup duplication Peutz-Jeghers syndrome [RCV000707897] Chr19:852319..1226656 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_852323)_(1222011_?)del deletion Peutz-Jeghers syndrome [RCV000708465] Chr19:852323..1222011 [GRCh37]
Chr19:19p13.3		 pathogenic
NC_000019.9:g.(?_852323)_(1226652_?)del deletion Peutz-Jeghers syndrome [RCV000708221] Chr19:852323..1226652 [GRCh37]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_032551.5(KISS1R):c.245-133_245-131del deletion not provided [RCV001566752] Chr19:918409..918411 [GRCh38]
Chr19:918409..918411 [GRCh37]
Chr19:19p13.3		 likely benign
NM_032551.5(KISS1R):c.369+271G>A single nucleotide variant not provided [RCV001567510] Chr19:918939 [GRCh38]
Chr19:918939 [GRCh37]
Chr19:19p13.3		 likely benign
GRCh37/hg19 19p13.3(chr19:423160-1429367)x3 copy number gain not provided [RCV000752449] Chr19:423160..1429367 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:789890-941603)x3 copy number gain not provided [RCV000752465] Chr19:789890..941603 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:801381-945710)x3 copy number gain not provided [RCV000752467] Chr19:801381..945710 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:801381-1008645)x3 copy number gain not provided [RCV000752468] Chr19:801381..1008645 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:804908-931523)x3 copy number gain not provided [RCV000752470] Chr19:804908..931523 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:804908-1008216)x3 copy number gain not provided [RCV000752471] Chr19:804908..1008216 [GRCh37]
Chr19:19p13.3		 benign
NM_032551.5(KISS1R):c.279G>A (p.Leu93=) single nucleotide variant not provided [RCV000927418] Chr19:918578 [GRCh38]
Chr19:918578 [GRCh37]
Chr19:19p13.3		 likely benign
NM_032551.5(KISS1R):c.306G>C (p.Leu102=) single nucleotide variant not provided [RCV000925998] Chr19:918605 [GRCh38]
Chr19:918605 [GRCh37]
Chr19:19p13.3		 likely benign
NM_032551.5(KISS1R):c.9C>T (p.Thr3=) single nucleotide variant KISS1R-related condition [RCV003913271]|not provided [RCV000949032] Chr19:917511 [GRCh38]
Chr19:917511 [GRCh37]
Chr19:19p13.3		 benign
NM_032551.5(KISS1R):c.759C>T (p.Arg253=) single nucleotide variant KISS1R-related condition [RCV003910804]|not provided [RCV000904580] Chr19:920310 [GRCh38]
Chr19:920310 [GRCh37]
Chr19:19p13.3		 likely benign
NM_032551.5(KISS1R):c.114G>T (p.Arg38=) single nucleotide variant not provided [RCV000922397] Chr19:917616 [GRCh38]
Chr19:917616 [GRCh37]
Chr19:19p13.3		 likely benign
NM_032551.5(KISS1R):c.369+10G>A single nucleotide variant not provided [RCV000925397] Chr19:918678 [GRCh38]
Chr19:918678 [GRCh37]
Chr19:19p13.3		 likely benign
NM_032551.5(KISS1R):c.1103C>T (p.Ser368Phe) single nucleotide variant Inborn genetic diseases [RCV003248459] Chr19:920654 [GRCh38]
Chr19:920654 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_032551.4(KISS1R):c.-406C>G single nucleotide variant not provided [RCV000832245] Chr19:917097 [GRCh38]
Chr19:917097 [GRCh37]
Chr19:19p13.3		 likely benign
NM_032551.5(KISS1R):c.687C>T (p.Arg229=) single nucleotide variant not provided [RCV000892746] Chr19:920055 [GRCh38]
Chr19:920055 [GRCh37]
Chr19:19p13.3		 benign|likely benign
NM_032551.5(KISS1R):c.245-133A>G single nucleotide variant not provided [RCV000834588] Chr19:918411 [GRCh38]
Chr19:918411 [GRCh37]
Chr19:19p13.3		 likely benign
NM_032551.5(KISS1R):c.439C>T (p.Pro147Ser) single nucleotide variant Centra precocious puberty 1 [RCV000985004] Chr19:919559 [GRCh38]
Chr19:919559 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_032551.5(KISS1R):c.245-133_245-130del deletion not provided [RCV000836251] Chr19:918408..918411 [GRCh38]
Chr19:918408..918411 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:260911-4788357)x3 copy number gain not provided [RCV000846988] Chr19:260911..4788357 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_032551.5(KISS1R):c.739-3del deletion not provided [RCV000959513] Chr19:920281 [GRCh38]
Chr19:920281 [GRCh37]
Chr19:19p13.3		 benign|likely benign
GRCh37/hg19 19p13.3(chr19:260911-3501271)x3 copy number gain not provided [RCV001007025] Chr19:260911..3501271 [GRCh37]
Chr19:19p13.3		 pathogenic
NC_000019.9:g.(?_589946)_(4818389_?)dup duplication not provided [RCV003105391] Chr19:589946..4818389 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_032551.5(KISS1R):c.505+80G>T single nucleotide variant not provided [RCV001549652] Chr19:919705 [GRCh38]
Chr19:919705 [GRCh37]
Chr19:19p13.3		 likely benign
NC_000019.9:g.(?_589946)_(2151333_?)dup duplication Cyclical neutropenia [RCV003107569] Chr19:589946..2151333 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_032551.5(KISS1R):c.244+183C>T single nucleotide variant not provided [RCV001570729] Chr19:917929 [GRCh38]
Chr19:917929 [GRCh37]
Chr19:19p13.3		 likely benign
NM_032551.5(KISS1R):c.245-196T>C single nucleotide variant not provided [RCV001560950] Chr19:918348 [GRCh38]
Chr19:918348 [GRCh37]
Chr19:19p13.3		 likely benign
NM_032551.5(KISS1R):c.506-118G>A single nucleotide variant not provided [RCV001562344] Chr19:919756 [GRCh38]
Chr19:919756 [GRCh37]
Chr19:19p13.3		 likely benign
NM_032551.5(KISS1R):c.738+64G>T single nucleotide variant not provided [RCV001717851] Chr19:920170 [GRCh38]
Chr19:920170 [GRCh37]
Chr19:19p13.3		 benign
NM_032551.5(KISS1R):c.505+31A>G single nucleotide variant not provided [RCV001680209] Chr19:919656 [GRCh38]
Chr19:919656 [GRCh37]
Chr19:19p13.3		 benign
NM_032551.5(KISS1R):c.245-133del deletion not provided [RCV001718141] Chr19:918411 [GRCh38]
Chr19:918411 [GRCh37]
Chr19:19p13.3		 benign
NM_032551.5(KISS1R):c.739-38C>A single nucleotide variant not provided [RCV001643976] Chr19:920252 [GRCh38]
Chr19:920252 [GRCh37]
Chr19:19p13.3		 benign
NM_032551.5(KISS1R):c.609C>T (p.Ala203=) single nucleotide variant not provided [RCV000900039] Chr19:919977 [GRCh38]
Chr19:919977 [GRCh37]
Chr19:19p13.3		 likely benign
NM_032551.5(KISS1R):c.395C>T (p.Thr132Ile) single nucleotide variant not provided [RCV000933560] Chr19:919515 [GRCh38]
Chr19:919515 [GRCh37]
Chr19:19p13.3		 benign
NM_032551.5(KISS1R):c.834C>T (p.Pro278=) single nucleotide variant not provided [RCV000931795] Chr19:920385 [GRCh38]
Chr19:920385 [GRCh37]
Chr19:19p13.3		 likely benign
NM_032551.5(KISS1R):c.969C>T (p.Tyr323=) single nucleotide variant not provided [RCV000888602] Chr19:920520 [GRCh38]
Chr19:920520 [GRCh37]
Chr19:19p13.3		 likely benign
NM_032551.5(KISS1R):c.822C>T (p.Ala274=) single nucleotide variant not provided [RCV000977884] Chr19:920373 [GRCh38]
Chr19:920373 [GRCh37]
Chr19:19p13.3		 likely benign
NC_000019.9:g.(?_852326)_(1226646_?)del deletion Peutz-Jeghers syndrome [RCV001033230] Chr19:852326..1226646 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_032551.5(KISS1R):c.-123C>T single nucleotide variant not provided [RCV001636084] Chr19:917380 [GRCh38]
Chr19:917380 [GRCh37]
Chr19:19p13.3		 benign
NM_032551.5(KISS1R):c.369+242G>A single nucleotide variant not provided [RCV001576376] Chr19:918910 [GRCh38]
Chr19:918910 [GRCh37]
Chr19:19p13.3		 likely benign
NM_032551.5(KISS1R):c.245-142C>T single nucleotide variant not provided [RCV001541023] Chr19:918402 [GRCh38]
Chr19:918402 [GRCh37]
Chr19:19p13.3		 benign
NM_032551.5(KISS1R):c.506-60G>T single nucleotide variant not provided [RCV001657334] Chr19:919814 [GRCh38]
Chr19:919814 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:260912-4384674)x3 copy number gain See cases [RCV001007443] Chr19:260912..4384674 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_032551.5(KISS1R):c.370-53G>A single nucleotide variant not provided [RCV001584600] Chr19:919437 [GRCh38]
Chr19:919437 [GRCh37]
Chr19:19p13.3		 likely benign
NM_032551.5(KISS1R):c.244+128C>T single nucleotide variant not provided [RCV001681039] Chr19:917874 [GRCh38]
Chr19:917874 [GRCh37]
Chr19:19p13.3		 benign
NM_032551.5(KISS1R):c.245-34G>A single nucleotide variant not provided [RCV001669949] Chr19:918510 [GRCh38]
Chr19:918510 [GRCh37]
Chr19:19p13.3		 benign
NM_032551.5(KISS1R):c.369+163A>C single nucleotide variant not provided [RCV001649727] Chr19:918831 [GRCh38]
Chr19:918831 [GRCh37]
Chr19:19p13.3		 benign
NC_000019.9:g.(?_589926)_(1401495_?)dup duplication Cerebral creatine deficiency syndrome [RCV001032652] Chr19:589926..1401495 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_852319)_(1226656_?)del deletion Peutz-Jeghers syndrome [RCV001033903] Chr19:852319..1226656 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_032551.5(KISS1R):c.710G>C (p.Arg237Pro) single nucleotide variant Pituitary stalk interruption syndrome [RCV001257277] Chr19:920078 [GRCh38]
Chr19:920078 [GRCh37]
Chr19:19p13.3		 likely pathogenic
GRCh37/hg19 19p13.3(chr19:260911-2256387)x3 copy number gain See cases [RCV002285065] Chr19:260911..2256387 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_032551.5(KISS1R):c.749T>A (p.Leu250Gln) single nucleotide variant Hypogonadotropic hypogonadism 8 with or without anosmia [RCV001330149] Chr19:920300 [GRCh38]
Chr19:920300 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_032551.5(KISS1R):c.369+5G>A single nucleotide variant not provided [RCV001288235] Chr19:918673 [GRCh38]
Chr19:918673 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_589926)_(1401495_?)dup duplication Cerebral creatine deficiency syndrome [RCV001307813] Chr19:589926..1401495 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_032551.5(KISS1R):c.735del (p.Gln246fs) deletion not provided [RCV001531450] Chr19:920103 [GRCh38]
Chr19:920103 [GRCh37]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3(chr19:260911-1319319) copy number loss Peutz-Jeghers syndrome [RCV002280635] Chr19:260911..1319319 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_032551.5(KISS1R):c.152del (p.Ala51fs) deletion not provided [RCV001782346] Chr19:917654 [GRCh38]
Chr19:917654 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_032551.5(KISS1R):c.506-1G>A single nucleotide variant not provided [RCV001815844] Chr19:919873 [GRCh38]
Chr19:919873 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_032551.5(KISS1R):c.969C>A (p.Tyr323Ter) single nucleotide variant Abnormality of the genitourinary system [RCV001814579] Chr19:920520 [GRCh38]
Chr19:920520 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_032551.5(KISS1R):c.1123G>A (p.Ala375Thr) single nucleotide variant not provided [RCV001971684] Chr19:920674 [GRCh38]
Chr19:920674 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_032551.5(KISS1R):c.82A>C (p.Asn28His) single nucleotide variant Hypogonadotropic hypogonadism 8 with or without anosmia [RCV001823547] Chr19:917584 [GRCh38]
Chr19:917584 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_032551.5(KISS1R):c.476C>A (p.Ala159Glu) single nucleotide variant not provided [RCV001934600] Chr19:919596 [GRCh38]
Chr19:919596 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_032551.5(KISS1R):c.767C>G (p.Ala256Gly) single nucleotide variant not provided [RCV001897100] Chr19:920318 [GRCh38]
Chr19:920318 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_032551.5(KISS1R):c.621del (p.Leu206_Tyr207insTer) deletion not provided [RCV001955117] Chr19:919989 [GRCh38]
Chr19:919989 [GRCh37]
Chr19:19p13.3		 pathogenic
NC_000019.9:g.(?_589946)_(1106571_?)del deletion Cyclical neutropenia [RCV001916881]|not provided [RCV001923747] Chr19:589946..1106571 [GRCh37]
Chr19:19p13.3		 pathogenic|uncertain significance
NM_032551.5(KISS1R):c.1159G>C (p.Gly387Arg) single nucleotide variant not provided [RCV002046666] Chr19:920710 [GRCh38]
Chr19:920710 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_032551.5(KISS1R):c.238T>C (p.Tyr80His) single nucleotide variant Inborn genetic diseases [RCV002625378]|not provided [RCV002028227] Chr19:917740 [GRCh38]
Chr19:917740 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_032551.5(KISS1R):c.772C>T (p.Arg258Trp) single nucleotide variant not provided [RCV001981953] Chr19:920323 [GRCh38]
Chr19:920323 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_589946)_(1650247_?)dup duplication not provided [RCV001940167] Chr19:589946..1650247 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_032551.5(KISS1R):c.724G>C (p.Asp242His) single nucleotide variant not provided [RCV002036052] Chr19:920092 [GRCh38]
Chr19:920092 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_032551.5(KISS1R):c.216G>A (p.Pro72=) single nucleotide variant KISS1R-related condition [RCV003950918]|not provided [RCV002190137] Chr19:917718 [GRCh38]
Chr19:917718 [GRCh37]
Chr19:19p13.3		 likely benign
NM_032551.5(KISS1R):c.18G>A (p.Thr6=) single nucleotide variant Centra precocious puberty 1 [RCV002499953]|KISS1R-related condition [RCV003933408]|not provided [RCV002101356] Chr19:917520 [GRCh38]
Chr19:917520 [GRCh37]
Chr19:19p13.3		 benign|likely benign
NM_032551.5(KISS1R):c.587C>A (p.Pro196His) single nucleotide variant KISS1R-related condition [RCV003951040]|not provided [RCV002103241] Chr19:919955 [GRCh38]
Chr19:919955 [GRCh37]
Chr19:19p13.3		 likely benign
NC_000019.9:g.(?_589946)_(5696788_?)dup duplication not provided [RCV003113597] Chr19:589946..5696788 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_032551.5(KISS1R):c.1065C>G (p.Asp355Glu) single nucleotide variant not provided [RCV003131373]|not specified [RCV003151470] Chr19:920616 [GRCh38]
Chr19:920616 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_032551.5(KISS1R):c.*9G>A single nucleotide variant Hypogonadotropic hypogonadism [RCV002287744] Chr19:920757 [GRCh38]
Chr19:920757 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_032551.5(KISS1R):c.73T>C (p.Cys25Arg) single nucleotide variant not provided [RCV002300852] Chr19:917575 [GRCh38]
Chr19:917575 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_032551.5(KISS1R):c.47C>T (p.Pro16Leu) single nucleotide variant Inborn genetic diseases [RCV002996388]|not provided [RCV003005177] Chr19:917549 [GRCh38]
Chr19:917549 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_032551.5(KISS1R):c.706G>T (p.Val236Leu) single nucleotide variant Inborn genetic diseases [RCV003000265] Chr19:920074 [GRCh38]
Chr19:920074 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_032551.5(KISS1R):c.369+1G>T single nucleotide variant not provided [RCV002823733] Chr19:918669 [GRCh38]
Chr19:918669 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_032551.5(KISS1R):c.301C>G (p.Leu101Val) single nucleotide variant Inborn genetic diseases [RCV002822757] Chr19:918600 [GRCh38]
Chr19:918600 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_032551.5(KISS1R):c.1031G>C (p.Arg344Pro) single nucleotide variant Inborn genetic diseases [RCV002986573] Chr19:920582 [GRCh38]
Chr19:920582 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_032551.5(KISS1R):c.1019del (p.Cys340fs) deletion not provided [RCV002958650] Chr19:920570 [GRCh38]
Chr19:920570 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_032551.5(KISS1R):c.623A>G (p.Asn208Ser) single nucleotide variant Inborn genetic diseases [RCV003274300]|not provided [RCV002628845] Chr19:919991 [GRCh38]
Chr19:919991 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_032551.5(KISS1R):c.505+7A>G single nucleotide variant not provided [RCV002811866] Chr19:919632 [GRCh38]
Chr19:919632 [GRCh37]
Chr19:19p13.3		 likely benign
NM_032551.5(KISS1R):c.872C>T (p.Ala291Val) single nucleotide variant not provided [RCV002646178] Chr19:920423 [GRCh38]
Chr19:920423 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_032551.5(KISS1R):c.541C>A (p.His181Asn) single nucleotide variant Inborn genetic diseases [RCV002703543] Chr19:919909 [GRCh38]
Chr19:919909 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_032551.5(KISS1R):c.167G>A (p.Gly56Asp) single nucleotide variant Inborn genetic diseases [RCV002836377] Chr19:917669 [GRCh38]
Chr19:917669 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_032551.5(KISS1R):c.41G>A (p.Gly14Glu) single nucleotide variant Inborn genetic diseases [RCV002940666] Chr19:917543 [GRCh38]
Chr19:917543 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_032551.5(KISS1R):c.1105C>T (p.His369Tyr) single nucleotide variant Inborn genetic diseases [RCV002724721] Chr19:920656 [GRCh38]
Chr19:920656 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_032551.5(KISS1R):c.739-4C>A single nucleotide variant not provided [RCV002612737] Chr19:920286 [GRCh38]
Chr19:920286 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_032551.5(KISS1R):c.1061C>G (p.Ser354Trp) single nucleotide variant not provided [RCV003131372] Chr19:920612 [GRCh38]
Chr19:920612 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_032551.5(KISS1R):c.505+4A>G single nucleotide variant not provided [RCV003131374] Chr19:919629 [GRCh38]
Chr19:919629 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_032551.5(KISS1R):c.1028_1041del (p.Arg343fs) deletion not specified [RCV003226868] Chr19:920573..920586 [GRCh38]
Chr19:920573..920586 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_032551.5(KISS1R):c.1009G>C (p.Val337Leu) single nucleotide variant Inborn genetic diseases [RCV003205222] Chr19:920560 [GRCh38]
Chr19:920560 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_032551.5(KISS1R):c.35C>T (p.Ser12Phe) single nucleotide variant Inborn genetic diseases [RCV003217072] Chr19:917537 [GRCh38]
Chr19:917537 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_032551.5(KISS1R):c.68C>T (p.Pro23Leu) single nucleotide variant Inborn genetic diseases [RCV003215232] Chr19:917570 [GRCh38]
Chr19:917570 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_032551.5(KISS1R):c.1112C>T (p.Ala371Val) single nucleotide variant Inborn genetic diseases [RCV003183074] Chr19:920663 [GRCh38]
Chr19:920663 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_032551.5(KISS1R):c.992G>C (p.Arg331Pro) single nucleotide variant Inborn genetic diseases [RCV003356109] Chr19:920543 [GRCh38]
Chr19:920543 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_032551.5(KISS1R):c.403G>T (p.Ala135Ser) single nucleotide variant Inborn genetic diseases [RCV003366336] Chr19:919523 [GRCh38]
Chr19:919523 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3 copy number gain not provided [RCV003485190] Chr19:260912..7246777 [GRCh37]
Chr19:19p13.3-13.2		 pathogenic
NM_032551.5(KISS1R):c.1029C>T (p.Arg343=) single nucleotide variant not provided [RCV003423148] Chr19:920580 [GRCh38]
Chr19:920580 [GRCh37]
Chr19:19p13.3		 likely benign
NM_032551.5(KISS1R):c.312G>A (p.Pro104=) single nucleotide variant not provided [RCV003421695] Chr19:918611 [GRCh38]
Chr19:918611 [GRCh37]
Chr19:19p13.3		 likely benign
NC_000019.9:g.(?_917332)_(921006_?)del deletion Hypogonadotropic hypogonadism 8 with or without anosmia [RCV003404979] Chr19:917332..921006 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_032551.5(KISS1R):c.112C>T (p.Arg38Trp) single nucleotide variant not provided [RCV003413494] Chr19:917614 [GRCh38]
Chr19:917614 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_032551.5(KISS1R):c.870C>T (p.Pro290=) single nucleotide variant not provided [RCV003413495] Chr19:920421 [GRCh38]
Chr19:920421 [GRCh37]
Chr19:19p13.3		 likely benign
NM_032551.5(KISS1R):c.618G>A (p.Leu206=) single nucleotide variant not provided [RCV003826768] Chr19:919986 [GRCh38]
Chr19:919986 [GRCh37]
Chr19:19p13.3		 likely benign
NM_032551.5(KISS1R):c.590G>T (p.Ser197Ile) single nucleotide variant not provided [RCV003830621] Chr19:919958 [GRCh38]
Chr19:919958 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_032551.5(KISS1R):c.1101G>A (p.Gly367=) single nucleotide variant not provided [RCV003739720] Chr19:920652 [GRCh38]
Chr19:920652 [GRCh37]
Chr19:19p13.3		 likely benign
NM_032551.5(KISS1R):c.472C>T (p.Leu158=) single nucleotide variant not provided [RCV003692990] Chr19:919592 [GRCh38]
Chr19:919592 [GRCh37]
Chr19:19p13.3		 likely benign
NM_032551.5(KISS1R):c.363C>G (p.Ile121Met) single nucleotide variant not provided [RCV003717129] Chr19:918662 [GRCh38]
Chr19:918662 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_032551.5(KISS1R):c.370-12C>A single nucleotide variant not provided [RCV003836350] Chr19:919478 [GRCh38]
Chr19:919478 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_032551.5(KISS1R):c.369+17G>A single nucleotide variant not provided [RCV003843746] Chr19:918685 [GRCh38]
Chr19:918685 [GRCh37]
Chr19:19p13.3		 likely benign
NM_032551.5(KISS1R):c.739-13G>C single nucleotide variant not provided [RCV003868821] Chr19:920277 [GRCh38]
Chr19:920277 [GRCh37]
Chr19:19p13.3		 likely benign
GRCh37/hg19 19p13.3(chr19:260911-1210337)x1 copy number loss not specified [RCV003986113] Chr19:260911..1210337 [GRCh37]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3(chr19:352288-1186507)x3 copy number gain not specified [RCV003986107] Chr19:352288..1186507 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_032551.5(KISS1R):c.435G>A (p.Val145=) single nucleotide variant not provided [RCV003722509] Chr19:919555 [GRCh38]
Chr19:919555 [GRCh37]
Chr19:19p13.3		 likely benign
NM_032551.5(KISS1R):c.725del (p.Asp242fs) deletion not provided [RCV003707282] Chr19:920093 [GRCh38]
Chr19:920093 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_032551.5(KISS1R):c.233A>G (p.Asn78Ser) single nucleotide variant Hypogonadotropic hypogonadism 8 with or without anosmia [RCV003985229] Chr19:917735 [GRCh38]
Chr19:917735 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_032551.5(KISS1R):c.-4G>A single nucleotide variant KISS1R-related condition [RCV003904581] Chr19:917499 [GRCh38]
Chr19:917499 [GRCh37]
Chr19:19p13.3		 likely benign
NC_000019.10:g.917254G>A single nucleotide variant not provided [RCV003885568] Chr19:917254 [GRCh38]
Chr19:917254 [GRCh37]
Chr19:19p13.3		 likely benign
NM_032551.5(KISS1R):c.1083G>A (p.Ala361=) single nucleotide variant KISS1R-related condition [RCV003923814] Chr19:920634 [GRCh38]
Chr19:920634 [GRCh37]
Chr19:19p13.3		 likely benign
NM_032551.5(KISS1R):c.750G>T (p.Leu250=) single nucleotide variant KISS1R-related condition [RCV003949493] Chr19:920301 [GRCh38]
Chr19:920301 [GRCh37]
Chr19:19p13.3		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:759
Count of miRNA genes:515
Interacting mature miRNAs:574
Transcripts:ENST00000234371, ENST00000592648, ENST00000606939
Prediction methods:Miranda, Rnahybrid
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.

Markers in Region
PMC196911P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3719917,472 - 917,785UniSTSGRCh37
Build 3619868,472 - 868,785RGDNCBI36
Celera19849,832 - 850,145RGD
Cytogenetic Map19p13.3UniSTS
HuRef19691,122 - 691,435UniSTS
PMC196911P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3719918,516 - 918,709UniSTSGRCh37
Build 3619869,516 - 869,709RGDNCBI36
Celera19850,872 - 851,065RGD
Cytogenetic Map19p13.3UniSTS
HuRef19692,162 - 692,355UniSTS
PMC196911P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3719919,439 - 919,666UniSTSGRCh37
Build 3619870,439 - 870,666RGDNCBI36
Celera19851,795 - 852,022RGD
Cytogenetic Map19p13.3UniSTS
HuRef19693,085 - 693,312UniSTS
PMC196911P4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3719919,851 - 920,135UniSTSGRCh37
Build 3619870,851 - 871,135RGDNCBI36
Celera19852,207 - 852,491RGD
Cytogenetic Map19p13.3UniSTS
HuRef19693,497 - 693,781UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 3 6 6 23 6 1 2 17 30 22 27
Low 159 322 338 47 899 41 237 36 1729 96 189 199 6 21 30
Below cutoff 1425 1515 872 324 887 195 2335 905 1576 165 864 1052 139 797 1408 5

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA887801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB051065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF343725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ309020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY029541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY253981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY253982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC140825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC141812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA432866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ878955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ891716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU883577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000234371   ⟹   ENSP00000234371
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl19917,333 - 921,005 (+)Ensembl
RefSeq Acc Id: ENST00000592648   ⟹   ENSP00000467666
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl19917,287 - 919,536 (+)Ensembl
RefSeq Acc Id: ENST00000606939   ⟹   ENSP00000475639
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl19917,503 - 920,748 (+)Ensembl
RefSeq Acc Id: NM_032551   ⟹   NP_115940
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819917,333 - 921,005 (+)NCBI
GRCh3719917,342 - 921,015 (+)ENTREZGENE
Build 3619868,358 - 872,013 (+)NCBI Archive
HuRef19690,992 - 694,661 (+)ENTREZGENE
CHM1_119916,929 - 920,598 (+)NCBI
T2T-CHM13v2.019880,072 - 883,744 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047439545   ⟹   XP_047295501
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819917,333 - 921,005 (+)NCBI
RefSeq Acc Id: XM_054322397   ⟹   XP_054178372
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.019880,072 - 883,744 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_115940   ⟸   NM_032551
- UniProtKB: B2RTV1 (UniProtKB/Swiss-Prot),   A5D8U2 (UniProtKB/Swiss-Prot),   Q96QG0 (UniProtKB/Swiss-Prot),   Q969F8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000234371   ⟸   ENST00000234371
RefSeq Acc Id: ENSP00000467666   ⟸   ENST00000592648
RefSeq Acc Id: ENSP00000475639   ⟸   ENST00000606939
RefSeq Acc Id: XP_047295501   ⟸   XM_047439545
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054178372   ⟸   XM_054322397
- Peptide Label: isoform X1
Protein Domains
G-protein coupled receptors family 1 profile

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q969F8-F1-model_v2 AlphaFold Q969F8 1-398 view protein structure

Promoters
RGD ID:6795717
Promoter ID:HG_KWN:28348
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   K562
Transcripts:NM_032551
Position:
Human AssemblyChrPosition (strand)Source
Build 3619867,986 - 868,677 (+)MPROMDB
RGD ID:7237755
Promoter ID:EPDNEW_H24623
Type:initiation region
Name:KISS1R_1
Description:KISS1 receptor
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
GRCh3819917,333 - 917,393EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4510 AgrOrtholog
COSMIC KISS1R COSMIC
Ensembl Genes ENSG00000116014 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000234371 ENTREZGENE
  ENST00000234371.10 UniProtKB/Swiss-Prot
  ENST00000592648.1 UniProtKB/TrEMBL
  ENST00000606939.2 UniProtKB/TrEMBL
Gene3D-CATH Rhodopsin 7-helix transmembrane proteins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000116014 GTEx
HGNC ID HGNC:4510 ENTREZGENE
Human Proteome Map KISS1R Human Proteome Map
InterPro GPCR_Rhodpsn UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_Rhodpsn_7TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KiSS_1_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:84634 UniProtKB/Swiss-Prot
NCBI Gene 84634 ENTREZGENE
OMIM 604161 OMIM
PANTHER G-PROTEIN COUPLED RECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KISS-1 RECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam 7tm_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28899 PharmGKB
PRINTS GPCRRHODOPSN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KISS1RECEPTR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE G_PROTEIN_RECEP_F1_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Family A G protein-coupled receptor-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A5D8U2 ENTREZGENE
  B2RTV1 ENTREZGENE
  K7EQ45_HUMAN UniProtKB/TrEMBL
  KISSR_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q96QG0 ENTREZGENE
  U3KQ86_HUMAN UniProtKB/TrEMBL
UniProt Secondary A5D8U2 UniProtKB/Swiss-Prot
  B2RTV1 UniProtKB/Swiss-Prot
  Q96QG0 UniProtKB/Swiss-Prot