OR51B5 (olfactory receptor family 51 subfamily B member 5) - Rat Genome Database

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Gene: OR51B5 (olfactory receptor family 51 subfamily B member 5) Homo sapiens
Analyze
Symbol: OR51B5
Name: olfactory receptor family 51 subfamily B member 5
RGD ID: 1343909
HGNC Page HGNC:19599
Description: Predicted to enable olfactory receptor activity. Predicted to be involved in G protein-coupled receptor signaling pathway and detection of chemical stimulus involved in sensory perception of smell. Predicted to be located in membrane. Predicted to be active in plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: HOR5'Beta5; odorant receptor HOR5'beta5; olfactory receptor 51B5; olfactory receptor OR11-37; olfactory receptor, family 51, subfamily B, member 5; OR11-37
RGD Orthologs
Mouse
Rat
Dog
Pig
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38115,340,318 - 5,505,652 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl115,303,444 - 5,505,652 (-)EnsemblGRCh38hg38GRCh38
GRCh37115,361,548 - 5,526,882 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36115,320,392 - 5,321,330 (-)NCBINCBI36Build 36hg18NCBI36
Build 34115,320,391 - 5,321,330NCBI
Celera115,482,287 - 5,483,225 (-)NCBICelera
Cytogenetic Map11p15.4NCBI
HuRef115,021,289 - 5,027,184 (-)NCBIHuRef
CHM1_1115,361,059 - 5,367,089 (-)NCBICHM1_1
T2T-CHM13v2.0115,399,679 - 5,564,994 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
amenorrhea  (IAGP)
genetic disease  (IAGP)

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

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

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10220430   PMID:11121057   PMID:12477932   PMID:14983052   PMID:20018918   PMID:21873635   PMID:27315375   PMID:33961781   PMID:34502185   PMID:36288877  


Genomics

Comparative Map Data
OR51B5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38115,340,318 - 5,505,652 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl115,303,444 - 5,505,652 (-)EnsemblGRCh38hg38GRCh38
GRCh37115,361,548 - 5,526,882 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36115,320,392 - 5,321,330 (-)NCBINCBI36Build 36hg18NCBI36
Build 34115,320,391 - 5,321,330NCBI
Celera115,482,287 - 5,483,225 (-)NCBICelera
Cytogenetic Map11p15.4NCBI
HuRef115,021,289 - 5,027,184 (-)NCBIHuRef
CHM1_1115,361,059 - 5,367,089 (-)NCBICHM1_1
T2T-CHM13v2.0115,399,679 - 5,564,994 (-)NCBIT2T-CHM13v2.0
Or51ai2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397103,586,589 - 103,587,542 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7103,583,554 - 103,589,786 (+)EnsemblGRCm39 Ensembl
GRCm387103,937,382 - 103,938,335 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7103,934,347 - 103,940,579 (+)EnsemblGRCm38mm10GRCm38
MGSCv377111,085,896 - 111,086,849 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367103,811,203 - 103,812,156 (+)NCBIMGSCv36mm8
Celera7104,317,560 - 104,318,513 (+)NCBICelera
Cytogenetic Map7E3NCBI
cM Map754.85NCBI
Or51b6b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81167,484,637 - 167,485,590 (-)NCBIGRCr8
mRatBN7.21158,072,748 - 158,073,701 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1158,072,748 - 158,073,701 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1166,053,105 - 166,054,058 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01173,233,117 - 173,234,070 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01166,121,326 - 166,122,279 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01168,794,481 - 168,795,434 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1168,794,481 - 168,795,434 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01174,960,404 - 174,961,357 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41161,432,556 - 161,433,509 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11161,512,636 - 161,513,590 (-)NCBI
Celera1156,109,599 - 156,110,552 (-)NCBICelera
Cytogenetic Map1q32NCBI
OR51B5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12128,262,174 - 28,263,112 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2128,281,456 - 28,282,394 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2127,979,240 - 27,980,178 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02128,979,464 - 28,980,402 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.12128,322,903 - 28,323,841 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02128,550,383 - 28,551,321 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02128,686,501 - 28,687,439 (-)NCBIUU_Cfam_GSD_1.0
LOC100622230
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl94,864,823 - 4,871,072 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.194,868,840 - 4,869,778 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1

Variants

.
Variants in OR51B5
132 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11p15.4(chr11:3745061-7846057)x3 copy number gain See cases [RCV000053616] Chr11:3745061..7846057 [GRCh38]
Chr11:3766291..7867604 [GRCh37]
Chr11:3722867..7824180 [NCBI36]
Chr11:11p15.4
pathogenic
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 copy number gain See cases [RCV000053613] Chr11:202758..31726224 [GRCh38]
Chr11:202758..31747772 [GRCh37]
Chr11:192758..31704348 [NCBI36]
Chr11:11p15.5-13
pathogenic
NC_000011.10:g.5343495G>A single nucleotide variant Malignant melanoma [RCV000062254] Chr11:5343495 [GRCh38]
Chr11:5364725 [GRCh37]
Chr11:5321301 [NCBI36]
Chr11:11p15.4
not provided
NC_000011.10:g.5343086G>A single nucleotide variant Malignant melanoma [RCV000069428] Chr11:5343086 [GRCh38]
Chr11:5364316 [GRCh37]
Chr11:5320892 [NCBI36]
Chr11:11p15.4
not provided
NC_000011.10:g.5343380C>T single nucleotide variant Malignant melanoma [RCV000069429] Chr11:5343380 [GRCh38]
Chr11:5364610 [GRCh37]
Chr11:5321186 [NCBI36]
Chr11:11p15.4
not provided
NM_001004750.1(OR51B6):c.855G>A (p.Met285Ile) single nucleotide variant Malignant melanoma [RCV000069431] Chr11:5352362 [GRCh38]
Chr11:5373592 [GRCh37]
Chr11:5330168 [NCBI36]
Chr11:11p15.4
not provided
NM_001004756.2(OR51M1):c.348C>T (p.Ile116=) single nucleotide variant Malignant melanoma [RCV000069432] Chr11:5389746 [GRCh38]
Chr11:5410976 [GRCh37]
Chr11:5367552 [NCBI36]
Chr11:11p15.4
not provided
NM_001004756.2(OR51M1):c.522C>T (p.Leu174=) single nucleotide variant Malignant melanoma [RCV000069433] Chr11:5389920 [GRCh38]
Chr11:5411150 [GRCh37]
Chr11:5367726 [NCBI36]
Chr11:11p15.4
not provided
NM_001004756.2(OR51M1):c.600C>T (p.Ala200=) single nucleotide variant Malignant melanoma [RCV000069434] Chr11:5389998 [GRCh38]
Chr11:5411228 [GRCh37]
Chr11:5367804 [NCBI36]
Chr11:11p15.4
not provided
NM_001004757.2(OR51Q1):c.45C>T (p.Ile15=) single nucleotide variant Malignant melanoma [RCV000069435] Chr11:5422245 [GRCh38]
Chr11:5443475 [GRCh37]
Chr11:5400051 [NCBI36]
Chr11:11p15.4
not provided
NM_001004757.2(OR51Q1):c.123C>T (p.Ile41=) single nucleotide variant Malignant melanoma [RCV000069436] Chr11:5422323 [GRCh38]
Chr11:5443553 [GRCh37]
Chr11:5400129 [NCBI36]
Chr11:11p15.4
not provided
NM_001005288.2(OR51I1):c.898G>A (p.Glu300Lys) single nucleotide variant Malignant melanoma [RCV000069437] Chr11:5440617 [GRCh38]
Chr11:5461847 [GRCh37]
Chr11:5418423 [NCBI36]
Chr11:11p15.4
not provided
NM_001005163.2(OR52D1):c.128T>C (p.Val43Ala) single nucleotide variant Malignant melanoma [RCV000069439] Chr11:5488834 [GRCh38]
Chr11:5510064 [GRCh37]
Chr11:5466640 [NCBI36]
Chr11:11p15.4
not provided
NM_017481.2(UBQLN3):c.1000C>T (p.Pro334Ser) single nucleotide variant Malignant melanoma [RCV000069443] Chr11:5508559 [GRCh38]
Chr11:5529789 [GRCh37]
Chr11:5486365 [NCBI36]
Chr11:11p15.4
not provided
NM_001004750.1(OR51B6):c.689G>A (p.Gly230Glu) single nucleotide variant Malignant melanoma [RCV000069430] Chr11:5352196 [GRCh38]
Chr11:5373426 [GRCh37]
Chr11:5330002 [NCBI36]
Chr11:11p15.4
not provided
NM_001005163.2(OR52D1):c.811G>A (p.Glu271Lys) single nucleotide variant Inborn genetic diseases [RCV002968377] Chr11:5489517 [GRCh38]
Chr11:5510747 [GRCh37]
Chr11:5467323 [NCBI36]
Chr11:11p15.4
uncertain significance|not provided
NM_001005163.2(OR52D1):c.282G>T (p.Glu94Asp) single nucleotide variant Inborn genetic diseases [RCV003189929] Chr11:5488988 [GRCh38]
Chr11:5510218 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004754.3(OR51I2):c.668G>A (p.Arg223His) single nucleotide variant Inborn genetic diseases [RCV003176056] Chr11:5454156 [GRCh38]
Chr11:5475386 [GRCh37]
Chr11:11p15.4
likely benign
NM_001004756.3(OR51M1):c.845C>A (p.Pro282His) single nucleotide variant Inborn genetic diseases [RCV003191643] Chr11:5390243 [GRCh38]
Chr11:5411473 [GRCh37]
Chr11:11p15.4
uncertain significance
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 copy number gain See cases [RCV000133997] Chr11:446754..18904742 [GRCh38]
Chr11:446754..18926289 [GRCh37]
Chr11:436754..18882865 [NCBI36]
Chr11:11p15.5-15.1
pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3 copy number gain See cases [RCV000139987] Chr11:61793..10727969 [GRCh38]
Chr11:61793..10749516 [GRCh37]
Chr11:51793..10706092 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
NM_001004750.1(OR51B6):c.441G>A (p.Leu147=) single nucleotide variant Malignant melanoma [RCV000062255] Chr11:5351948 [GRCh38]
Chr11:5373178 [GRCh37]
Chr11:5329754 [NCBI36]
Chr11:11p15.4
not provided
NM_001004754.2(OR51I2):c.331G>A (p.Glu111Lys) single nucleotide variant Malignant melanoma [RCV000062256] Chr11:5453819 [GRCh38]
Chr11:5475049 [GRCh37]
Chr11:5431625 [NCBI36]
Chr11:11p15.4
not provided
NM_001004754.2(OR51I2):c.911T>C (p.Phe304Ser) single nucleotide variant Malignant melanoma [RCV000062257] Chr11:5454399 [GRCh38]
Chr11:5475629 [GRCh37]
Chr11:5432205 [NCBI36]
Chr11:11p15.4
not provided
NC_000011.10:g.5354299C>T single nucleotide variant Lung cancer [RCV000110122] Chr11:5354299 [GRCh38]
Chr11:5375529 [GRCh37]
Chr11:11p15.4
uncertain significance
NC_000011.10:g.5384436A>C single nucleotide variant Lung cancer [RCV000110123] Chr11:5384436 [GRCh38]
Chr11:5405666 [GRCh37]
Chr11:11p15.4
uncertain significance
NC_000011.10:g.5449800T>G single nucleotide variant Lung cancer [RCV000110124] Chr11:5449800 [GRCh38]
Chr11:5471030 [GRCh37]
Chr11:11p15.4
uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230615-6644927)x3 copy number gain See cases [RCV000449417] Chr11:230615..6644927 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
GRCh37/hg19 11p15.4(chr11:5361271-5616544)x1 copy number loss See cases [RCV000510264] Chr11:5361271..5616544 [GRCh37]
Chr11:11p15.4
uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 copy number gain See cases [RCV000511561] Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_001004754.3(OR51I2):c.781G>A (p.Val261Met) single nucleotide variant Inborn genetic diseases [RCV003283289] Chr11:5454269 [GRCh38]
Chr11:5475499 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004757.2(OR51Q1):c.817C>G (p.Leu273Val) single nucleotide variant Inborn genetic diseases [RCV003241163] Chr11:5423017 [GRCh38]
Chr11:5444247 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001395252.1(OR51B5):c.680C>T (p.Ala227Val) single nucleotide variant Inborn genetic diseases [RCV003260138] Chr11:5342845 [GRCh38]
Chr11:5364075 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001395252.1(OR51B5):c.317C>G (p.Ser106Cys) single nucleotide variant Inborn genetic diseases [RCV003242583] Chr11:5343208 [GRCh38]
Chr11:5364438 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004754.3(OR51I2):c.72C>G (p.His24Gln) single nucleotide variant Inborn genetic diseases [RCV003265964] Chr11:5453560 [GRCh38]
Chr11:5474790 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004757.2(OR51Q1):c.407C>G (p.Ser136Cys) single nucleotide variant Inborn genetic diseases [RCV003267956] Chr11:5422607 [GRCh38]
Chr11:5443837 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004754.3(OR51I2):c.430A>G (p.Met144Val) single nucleotide variant Inborn genetic diseases [RCV003242647] Chr11:5453918 [GRCh38]
Chr11:5475148 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004756.3(OR51M1):c.161A>T (p.Asn54Ile) single nucleotide variant Inborn genetic diseases [RCV003249667] Chr11:5389559 [GRCh38]
Chr11:5410789 [GRCh37]
Chr11:11p15.4
uncertain significance
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 copy number gain See cases [RCV000512225] Chr11:230615..25584362 [GRCh37]
Chr11:11p15.5-14.3
pathogenic
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 copy number gain See cases [RCV000512477] Chr11:230615..31995219 [GRCh37]
Chr11:11p15.5-13
pathogenic
GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3 copy number gain not provided [RCV000683372] Chr11:230615..17099213 [GRCh37]
Chr11:11p15.5-15.1
pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3 copy number gain not provided [RCV000683369] Chr11:230615..9704511 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NC_000011.10:g.5433500_5475233dup duplication Primary amenorrhea [RCV000754457] Chr11:5433500..5475233 [GRCh38]
Chr11:5454730..5496463 [GRCh37]
Chr11:11p15.4
likely benign
GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136) copy number gain Silver-Russell syndrome 1 [RCV000767567] Chr11:193146..12643136 [GRCh37]
Chr11:11p15.5-15.3
pathogenic
GRCh37/hg19 11p15.4(chr11:5094756-5785959)x3 copy number gain See cases [RCV003317674] Chr11:5094756..5785959 [GRCh37]
Chr11:11p15.4
likely benign
NM_001004756.3(OR51M1):c.804G>A (p.Met268Ile) single nucleotide variant Inborn genetic diseases [RCV003251113] Chr11:5390202 [GRCh38]
Chr11:5411432 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001005288.3(OR51I1):c.542G>C (p.Cys181Ser) single nucleotide variant Inborn genetic diseases [RCV003258333] Chr11:5440973 [GRCh38]
Chr11:5462203 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001005288.3(OR51I1):c.542G>A (p.Cys181Tyr) single nucleotide variant Inborn genetic diseases [RCV003294997] Chr11:5440973 [GRCh38]
Chr11:5462203 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004750.1(OR51B6):c.472G>T (p.Val158Phe) single nucleotide variant Inborn genetic diseases [RCV003283134] Chr11:5351979 [GRCh38]
Chr11:5373209 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004757.2(OR51Q1):c.577G>A (p.Asp193Asn) single nucleotide variant Inborn genetic diseases [RCV003269751] Chr11:5422777 [GRCh38]
Chr11:5444007 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004754.3(OR51I2):c.176T>C (p.Met59Thr) single nucleotide variant not provided [RCV001716458] Chr11:5453664 [GRCh38]
Chr11:5474894 [GRCh37]
Chr11:11p15.4
benign
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 copy number gain not provided [RCV001006372] Chr11:235934..33826995 [GRCh37]
Chr11:11p15.5-13
pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3 copy number gain Silver-Russell syndrome 1 [RCV001263222] Chr11:210300..8664358 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
NM_001005163.2(OR52D1):c.482C>T (p.Pro161Leu) single nucleotide variant Inborn genetic diseases [RCV003270208] Chr11:5489188 [GRCh38]
Chr11:5510418 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004750.1(OR51B6):c.934G>C (p.Ala312Pro) single nucleotide variant Inborn genetic diseases [RCV003270387] Chr11:5352441 [GRCh38]
Chr11:5373671 [GRCh37]
Chr11:11p15.4
uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3 copy number gain not provided [RCV001825269] Chr11:230615..5525355 [GRCh37]
Chr11:11p15.5-15.4
not provided
GRCh37/hg19 11p15.4(chr11:5221232-5373562) copy number gain not specified [RCV002052911] Chr11:5221232..5373562 [GRCh37]
Chr11:11p15.4
likely pathogenic
GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3 copy number gain See cases [RCV002286351] Chr11:230615..26881146 [GRCh37]
Chr11:11p15.5-14.2
pathogenic
GRCh37/hg19 11p15.4(chr11:5361272-5660023)x1 copy number loss not provided [RCV002474937] Chr11:5361272..5660023 [GRCh37]
Chr11:11p15.4
uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3 copy number gain not provided [RCV002472435] Chr11:230616..8250724 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
GRCh37/hg19 11p15.4(chr11:5279153-5619949)x3 copy number gain not provided [RCV002472403] Chr11:5279153..5619949 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004754.3(OR51I2):c.913C>T (p.Arg305Cys) single nucleotide variant Inborn genetic diseases [RCV002684858] Chr11:5454401 [GRCh38]
Chr11:5475631 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001395252.1(OR51B5):c.761T>C (p.Ile254Thr) single nucleotide variant Inborn genetic diseases [RCV002728585] Chr11:5342764 [GRCh38]
Chr11:5363994 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004756.3(OR51M1):c.379C>T (p.Leu127Phe) single nucleotide variant Inborn genetic diseases [RCV002840288] Chr11:5389777 [GRCh38]
Chr11:5411007 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004754.3(OR51I2):c.775T>C (p.Ser259Pro) single nucleotide variant Inborn genetic diseases [RCV002749360] Chr11:5454263 [GRCh38]
Chr11:5475493 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004754.3(OR51I2):c.86G>C (p.Gly29Ala) single nucleotide variant Inborn genetic diseases [RCV002906521] Chr11:5453574 [GRCh38]
Chr11:5474804 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001005288.3(OR51I1):c.412C>G (p.Leu138Val) single nucleotide variant Inborn genetic diseases [RCV002773248] Chr11:5441103 [GRCh38]
Chr11:5462333 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004757.2(OR51Q1):c.916T>G (p.Leu306Val) single nucleotide variant Inborn genetic diseases [RCV002970157] Chr11:5423116 [GRCh38]
Chr11:5444346 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001395252.1(OR51B5):c.397G>A (p.Val133Ile) single nucleotide variant Inborn genetic diseases [RCV002728211] Chr11:5343128 [GRCh38]
Chr11:5364358 [GRCh37]
Chr11:11p15.4
likely benign
NM_001004754.3(OR51I2):c.422T>C (p.Ile141Thr) single nucleotide variant Inborn genetic diseases [RCV002684556] Chr11:5453910 [GRCh38]
Chr11:5475140 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004756.3(OR51M1):c.138G>A (p.Met46Ile) single nucleotide variant Inborn genetic diseases [RCV002794715] Chr11:5389536 [GRCh38]
Chr11:5410766 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004750.1(OR51B6):c.443C>A (p.Thr148Lys) single nucleotide variant Inborn genetic diseases [RCV002753875] Chr11:5351950 [GRCh38]
Chr11:5373180 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004750.1(OR51B6):c.229C>T (p.Pro77Ser) single nucleotide variant Inborn genetic diseases [RCV002731810] Chr11:5351736 [GRCh38]
Chr11:5372966 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001005288.3(OR51I1):c.425G>A (p.Arg142His) single nucleotide variant Inborn genetic diseases [RCV002945908] Chr11:5441090 [GRCh38]
Chr11:5462320 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004757.2(OR51Q1):c.563G>C (p.Arg188Pro) single nucleotide variant Inborn genetic diseases [RCV002685265] Chr11:5422763 [GRCh38]
Chr11:5443993 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004757.2(OR51Q1):c.839A>G (p.Asn280Ser) single nucleotide variant Inborn genetic diseases [RCV002946151] Chr11:5423039 [GRCh38]
Chr11:5444269 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004757.2(OR51Q1):c.454T>C (p.Cys152Arg) single nucleotide variant Inborn genetic diseases [RCV002840151] Chr11:5422654 [GRCh38]
Chr11:5443884 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004756.3(OR51M1):c.760A>G (p.Thr254Ala) single nucleotide variant Inborn genetic diseases [RCV002794425] Chr11:5390158 [GRCh38]
Chr11:5411388 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004754.3(OR51I2):c.742G>A (p.Val248Ile) single nucleotide variant Inborn genetic diseases [RCV002864212] Chr11:5454230 [GRCh38]
Chr11:5475460 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004756.3(OR51M1):c.247C>G (p.Leu83Val) single nucleotide variant Inborn genetic diseases [RCV002840066] Chr11:5389645 [GRCh38]
Chr11:5410875 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004757.2(OR51Q1):c.938A>G (p.Asn313Ser) single nucleotide variant Inborn genetic diseases [RCV002865494] Chr11:5423138 [GRCh38]
Chr11:5444368 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004754.3(OR51I2):c.700C>T (p.Arg234Cys) single nucleotide variant Inborn genetic diseases [RCV002661424] Chr11:5454188 [GRCh38]
Chr11:5475418 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004757.2(OR51Q1):c.29A>G (p.Glu10Gly) single nucleotide variant Inborn genetic diseases [RCV002691481] Chr11:5422229 [GRCh38]
Chr11:5443459 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004757.2(OR51Q1):c.30A>C (p.Glu10Asp) single nucleotide variant Inborn genetic diseases [RCV002691482] Chr11:5422230 [GRCh38]
Chr11:5443460 [GRCh37]
Chr11:11p15.4
likely benign
NM_001004757.2(OR51Q1):c.155G>C (p.Arg52Pro) single nucleotide variant Inborn genetic diseases [RCV002822106] Chr11:5422355 [GRCh38]
Chr11:5443585 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004750.1(OR51B6):c.725A>G (p.His242Arg) single nucleotide variant Inborn genetic diseases [RCV002998600] Chr11:5352232 [GRCh38]
Chr11:5373462 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001005288.3(OR51I1):c.690C>G (p.Ile230Met) single nucleotide variant Inborn genetic diseases [RCV002782634] Chr11:5440825 [GRCh38]
Chr11:5462055 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004756.3(OR51M1):c.740G>A (p.Arg247His) single nucleotide variant Inborn genetic diseases [RCV002951531] Chr11:5390138 [GRCh38]
Chr11:5411368 [GRCh37]
Chr11:11p15.4
likely benign
NM_001004757.2(OR51Q1):c.50C>T (p.Thr17Met) single nucleotide variant Inborn genetic diseases [RCV002782295] Chr11:5422250 [GRCh38]
Chr11:5443480 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004750.1(OR51B6):c.610A>G (p.Met204Val) single nucleotide variant Inborn genetic diseases [RCV003000333] Chr11:5352117 [GRCh38]
Chr11:5373347 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004756.3(OR51M1):c.115A>G (p.Ile39Val) single nucleotide variant Inborn genetic diseases [RCV002661142] Chr11:5389513 [GRCh38]
Chr11:5410743 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004756.3(OR51M1):c.869A>G (p.Asn290Ser) single nucleotide variant Inborn genetic diseases [RCV002884623] Chr11:5390267 [GRCh38]
Chr11:5411497 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001005163.2(OR52D1):c.584T>G (p.Ile195Ser) single nucleotide variant Inborn genetic diseases [RCV002950571] Chr11:5489290 [GRCh38]
Chr11:5510520 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004756.3(OR51M1):c.637A>C (p.Met213Leu) single nucleotide variant Inborn genetic diseases [RCV002707414] Chr11:5390035 [GRCh38]
Chr11:5411265 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004757.2(OR51Q1):c.97G>A (p.Val33Ile) single nucleotide variant Inborn genetic diseases [RCV002887720] Chr11:5422297 [GRCh38]
Chr11:5443527 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001005163.2(OR52D1):c.317G>A (p.Cys106Tyr) single nucleotide variant Inborn genetic diseases [RCV002745156] Chr11:5489023 [GRCh38]
Chr11:5510253 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001395252.1(OR51B5):c.413G>A (p.Arg138Gln) single nucleotide variant Inborn genetic diseases [RCV002763441] Chr11:5343112 [GRCh38]
Chr11:5364342 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004756.3(OR51M1):c.197G>A (p.Arg66His) single nucleotide variant Inborn genetic diseases [RCV002697218] Chr11:5389595 [GRCh38]
Chr11:5410825 [GRCh37]
Chr11:11p15.4
likely benign
NM_001004750.1(OR51B6):c.663G>C (p.Lys221Asn) single nucleotide variant Inborn genetic diseases [RCV002702114] Chr11:5352170 [GRCh38]
Chr11:5373400 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004754.3(OR51I2):c.391C>T (p.Arg131Cys) single nucleotide variant Inborn genetic diseases [RCV002699963] Chr11:5453879 [GRCh38]
Chr11:5475109 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004754.3(OR51I2):c.160A>G (p.Ser54Gly) single nucleotide variant Inborn genetic diseases [RCV002787584] Chr11:5453648 [GRCh38]
Chr11:5474878 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001005288.3(OR51I1):c.707G>A (p.Arg236Gln) single nucleotide variant Inborn genetic diseases [RCV003004545] Chr11:5440808 [GRCh38]
Chr11:5462038 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001395252.1(OR51B5):c.350C>T (p.Ala117Val) single nucleotide variant Inborn genetic diseases [RCV002641684] Chr11:5343175 [GRCh38]
Chr11:5364405 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004756.3(OR51M1):c.57G>C (p.Gln19His) single nucleotide variant Inborn genetic diseases [RCV002929557] Chr11:5389455 [GRCh38]
Chr11:5410685 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004757.2(OR51Q1):c.709C>T (p.Leu237Phe) single nucleotide variant Inborn genetic diseases [RCV002915986] Chr11:5422909 [GRCh38]
Chr11:5444139 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001395252.1(OR51B5):c.226A>G (p.Met76Val) single nucleotide variant Inborn genetic diseases [RCV002765221] Chr11:5343299 [GRCh38]
Chr11:5364529 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004754.3(OR51I2):c.532T>C (p.Tyr178His) single nucleotide variant Inborn genetic diseases [RCV002984663] Chr11:5454020 [GRCh38]
Chr11:5475250 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004750.1(OR51B6):c.479G>A (p.Arg160His) single nucleotide variant Inborn genetic diseases [RCV002697105] Chr11:5351986 [GRCh38]
Chr11:5373216 [GRCh37]
Chr11:11p15.4
likely benign
NM_001005163.2(OR52D1):c.625G>T (p.Ala209Ser) single nucleotide variant Inborn genetic diseases [RCV002986498] Chr11:5489331 [GRCh38]
Chr11:5510561 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001005163.2(OR52D1):c.541T>A (p.Tyr181Asn) single nucleotide variant Inborn genetic diseases [RCV002709961] Chr11:5489247 [GRCh38]
Chr11:5510477 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004750.1(OR51B6):c.672G>A (p.Met224Ile) single nucleotide variant Inborn genetic diseases [RCV002789033] Chr11:5352179 [GRCh38]
Chr11:5373409 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001005163.2(OR52D1):c.523C>T (p.Arg175Cys) single nucleotide variant Inborn genetic diseases [RCV002742607] Chr11:5489229 [GRCh38]
Chr11:5510459 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001005163.2(OR52D1):c.539C>A (p.Thr180Lys) single nucleotide variant Inborn genetic diseases [RCV002831328] Chr11:5489245 [GRCh38]
Chr11:5510475 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004756.3(OR51M1):c.314A>G (p.Tyr105Cys) single nucleotide variant Inborn genetic diseases [RCV002673136] Chr11:5389712 [GRCh38]
Chr11:5410942 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004756.3(OR51M1):c.508C>T (p.Pro170Ser) single nucleotide variant Inborn genetic diseases [RCV002670104] Chr11:5389906 [GRCh38]
Chr11:5411136 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001395252.1(OR51B5):c.707T>C (p.Leu236Pro) single nucleotide variant Inborn genetic diseases [RCV002934958] Chr11:5342818 [GRCh38]
Chr11:5364048 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004757.2(OR51Q1):c.514C>T (p.His172Tyr) single nucleotide variant Inborn genetic diseases [RCV002672992] Chr11:5422714 [GRCh38]
Chr11:5443944 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001395252.1(OR51B5):c.434G>C (p.Gly145Ala) single nucleotide variant Inborn genetic diseases [RCV002855357] Chr11:5343091 [GRCh38]
Chr11:5364321 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001005288.3(OR51I1):c.905G>A (p.Arg302His) single nucleotide variant Inborn genetic diseases [RCV002792958] Chr11:5440610 [GRCh38]
Chr11:5461840 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004754.3(OR51I2):c.551T>C (p.Met184Thr) single nucleotide variant Inborn genetic diseases [RCV002939278] Chr11:5454039 [GRCh38]
Chr11:5475269 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001005288.3(OR51I1):c.811C>G (p.Pro271Ala) single nucleotide variant Inborn genetic diseases [RCV002897576] Chr11:5440704 [GRCh38]
Chr11:5461934 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004750.1(OR51B6):c.156C>A (p.Asn52Lys) single nucleotide variant Inborn genetic diseases [RCV002961049] Chr11:5351663 [GRCh38]
Chr11:5372893 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004750.1(OR51B6):c.725A>C (p.His242Pro) single nucleotide variant Inborn genetic diseases [RCV002989501] Chr11:5352232 [GRCh38]
Chr11:5373462 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001005163.2(OR52D1):c.421C>T (p.His141Tyr) single nucleotide variant Inborn genetic diseases [RCV002935844] Chr11:5489127 [GRCh38]
Chr11:5510357 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001005288.3(OR51I1):c.533A>T (p.His178Leu) single nucleotide variant Inborn genetic diseases [RCV002920093] Chr11:5440982 [GRCh38]
Chr11:5462212 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001395252.1(OR51B5):c.605T>C (p.Val202Ala) single nucleotide variant Inborn genetic diseases [RCV002722370] Chr11:5342920 [GRCh38]
Chr11:5364150 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004757.2(OR51Q1):c.949A>G (p.Arg317Gly) single nucleotide variant Inborn genetic diseases [RCV002680135] Chr11:5423149 [GRCh38]
Chr11:5444379 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004757.2(OR51Q1):c.149T>C (p.Val50Ala) single nucleotide variant Inborn genetic diseases [RCV002944521] Chr11:5422349 [GRCh38]
Chr11:5443579 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001395252.1(OR51B5):c.502C>T (p.His168Tyr) single nucleotide variant Inborn genetic diseases [RCV002722504] Chr11:5343023 [GRCh38]
Chr11:5364253 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004754.3(OR51I2):c.152T>C (p.Val51Ala) single nucleotide variant Inborn genetic diseases [RCV002724730] Chr11:5453640 [GRCh38]
Chr11:5474870 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004757.2(OR51Q1):c.773T>C (p.Val258Ala) single nucleotide variant Inborn genetic diseases [RCV002813857] Chr11:5422973 [GRCh38]
Chr11:5444203 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001005288.3(OR51I1):c.301G>A (p.Val101Ile) single nucleotide variant Inborn genetic diseases [RCV002655726] Chr11:5441214 [GRCh38]
Chr11:5462444 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004756.3(OR51M1):c.739C>A (p.Arg247Ser) single nucleotide variant Inborn genetic diseases [RCV002944843] Chr11:5390137 [GRCh38]
Chr11:5411367 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004757.2(OR51Q1):c.458G>T (p.Cys153Phe) single nucleotide variant Inborn genetic diseases [RCV002656690] Chr11:5422658 [GRCh38]
Chr11:5443888 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001005288.3(OR51I1):c.398G>A (p.Arg133His) single nucleotide variant Inborn genetic diseases [RCV003180523] Chr11:5441117 [GRCh38]
Chr11:5462347 [GRCh37]
Chr11:11p15.4
likely benign
NM_001004750.1(OR51B6):c.45C>A (p.Phe15Leu) single nucleotide variant Inborn genetic diseases [RCV003215083] Chr11:5351552 [GRCh38]
Chr11:5372782 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001395252.1(OR51B5):c.203A>G (p.Asp68Gly) single nucleotide variant Inborn genetic diseases [RCV003180390] Chr11:5343322 [GRCh38]
Chr11:5364552 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001395252.1(OR51B5):c.204C>G (p.Asp68Glu) single nucleotide variant Inborn genetic diseases [RCV003180391] Chr11:5343321 [GRCh38]
Chr11:5364551 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001005288.3(OR51I1):c.251T>G (p.Ile84Ser) single nucleotide variant Inborn genetic diseases [RCV003186532] Chr11:5441264 [GRCh38]
Chr11:5462494 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001395252.1(OR51B5):c.301T>C (p.Phe101Leu) single nucleotide variant Inborn genetic diseases [RCV003205323] Chr11:5343224 [GRCh38]
Chr11:5364454 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001395252.1(OR51B5):c.478C>T (p.Pro160Ser) single nucleotide variant Inborn genetic diseases [RCV003197561] Chr11:5343047 [GRCh38]
Chr11:5364277 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001005288.3(OR51I1):c.467C>T (p.Thr156Ile) single nucleotide variant Inborn genetic diseases [RCV003173651] Chr11:5441048 [GRCh38]
Chr11:5462278 [GRCh37]
Chr11:11p15.4
likely benign
NM_001005288.3(OR51I1):c.767C>T (p.Pro256Leu) single nucleotide variant Inborn genetic diseases [RCV003190106] Chr11:5440748 [GRCh38]
Chr11:5461978 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004756.3(OR51M1):c.658A>T (p.Met220Leu) single nucleotide variant Inborn genetic diseases [RCV003205042] Chr11:5390056 [GRCh38]
Chr11:5411286 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004754.3(OR51I2):c.202T>C (p.Phe68Leu) single nucleotide variant Inborn genetic diseases [RCV003362116] Chr11:5453690 [GRCh38]
Chr11:5474920 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001005288.3(OR51I1):c.706C>T (p.Arg236Trp) single nucleotide variant Inborn genetic diseases [RCV003345269] Chr11:5440809 [GRCh38]
Chr11:5462039 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004754.3(OR51I2):c.803T>C (p.Val268Ala) single nucleotide variant Inborn genetic diseases [RCV003345377] Chr11:5454291 [GRCh38]
Chr11:5475521 [GRCh37]
Chr11:11p15.4
likely benign
NM_001004750.1(OR51B6):c.455T>G (p.Leu152Arg) single nucleotide variant Inborn genetic diseases [RCV003364394] Chr11:5351962 [GRCh38]
Chr11:5373192 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004750.1(OR51B6):c.167C>T (p.Pro56Leu) single nucleotide variant Inborn genetic diseases [RCV003383885] Chr11:5351674 [GRCh38]
Chr11:5372904 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001005163.2(OR52D1):c.221T>C (p.Leu74Pro) single nucleotide variant Inborn genetic diseases [RCV003384020] Chr11:5488927 [GRCh38]
Chr11:5510157 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004754.3(OR51I2):c.902G>A (p.Arg301Gln) single nucleotide variant Inborn genetic diseases [RCV003370560] Chr11:5454390 [GRCh38]
Chr11:5475620 [GRCh37]
Chr11:11p15.4
likely benign
NM_001395252.1(OR51B5):c.829G>A (p.Ala277Thr) single nucleotide variant Inborn genetic diseases [RCV003356066] Chr11:5342696 [GRCh38]
Chr11:5363926 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001395252.1(OR51B5):c.556G>A (p.Ala186Thr) single nucleotide variant Inborn genetic diseases [RCV003363807] Chr11:5342969 [GRCh38]
Chr11:5364199 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001395252.1(OR51B5):c.284G>T (p.Cys95Phe) single nucleotide variant Inborn genetic diseases [RCV003375005] Chr11:5343241 [GRCh38]
Chr11:5364471 [GRCh37]
Chr11:11p15.4
uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3 copy number gain Russell-Silver syndrome [RCV003444025] Chr11:230615..8821443 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
NM_001005567.3(OR51B5):c.-359-55947T>A single nucleotide variant not provided [RCV003397880] Chr11:5402857 [GRCh38]
Chr11:5424087 [GRCh37]
Chr11:11p15.4
likely benign
NM_001005163.2(OR52D1):c.776TCT[1] (p.Phe260del) microsatellite not provided [RCV003397881] Chr11:5489480..5489482 [GRCh38]
Chr11:5510710..5510712 [GRCh37]
Chr11:11p15.4
likely benign
NM_001005567.3(OR51B5):c.-359-55753G>A single nucleotide variant not provided [RCV003397879] Chr11:5402663 [GRCh38]
Chr11:5423893 [GRCh37]
Chr11:11p15.4
likely benign
NM_001395252.1(OR51B5):c.416T>G (p.Val139Gly) single nucleotide variant Inborn genetic diseases [RCV003379625] Chr11:5343109 [GRCh38]
Chr11:5364339 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_001004756.3(OR51M1):c.881T>C (p.Phe294Ser) single nucleotide variant Inborn genetic diseases [RCV003376550] Chr11:5390279 [GRCh38]
Chr11:5411509 [GRCh37]
Chr11:11p15.4
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:598
Count of miRNA genes:468
Interacting mature miRNAs:510
Transcripts:ENST00000300773, ENST00000415970, ENST00000418729, ENST00000420465, ENST00000420726
Prediction methods:Microtar, 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
ECD02221  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,363,362 - 5,364,199UniSTSGRCh37
Build 36115,319,938 - 5,320,775RGDNCBI36
Celera115,481,833 - 5,482,670RGD
Cytogenetic Map11p15.4UniSTS
HuRef115,022,538 - 5,023,375UniSTS
ECD04047  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,364,212 - 5,364,988UniSTSGRCh37
Build 36115,320,788 - 5,321,564RGDNCBI36
Celera115,482,683 - 5,483,462RGD
Cytogenetic Map11p15.4UniSTS
HuRef115,023,388 - 5,024,021UniSTS
ECD04216  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,365,107 - 5,365,878UniSTSGRCh37
Build 36115,321,683 - 5,322,454RGDNCBI36
Celera115,483,581 - 5,484,363RGD
Cytogenetic Map11p15.4UniSTS
HuRef115,024,140 - 5,024,922UniSTS
REN97846  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,363,485 - 5,363,735UniSTSGRCh37
Build 36115,320,061 - 5,320,311RGDNCBI36
Celera115,481,956 - 5,482,206RGD
Cytogenetic Map11p15.4UniSTS
HuRef115,022,661 - 5,022,911UniSTS
REN97847  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,363,732 - 5,363,960UniSTSGRCh37
Build 36115,320,308 - 5,320,536RGDNCBI36
Celera115,482,203 - 5,482,431RGD
Cytogenetic Map11p15.4UniSTS
HuRef115,022,908 - 5,023,136UniSTS
REN97848  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,363,942 - 5,364,189UniSTSGRCh37
Build 36115,320,518 - 5,320,765RGDNCBI36
Celera115,482,413 - 5,482,660RGD
Cytogenetic Map11p15.4UniSTS
HuRef115,023,118 - 5,023,365UniSTS
REN97849  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,364,151 - 5,364,404UniSTSGRCh37
Build 36115,320,727 - 5,320,980RGDNCBI36
Celera115,482,622 - 5,482,875RGD
Cytogenetic Map11p15.4UniSTS
REN97850  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,364,381 - 5,364,634UniSTSGRCh37
Build 36115,320,957 - 5,321,210RGDNCBI36
Celera115,482,852 - 5,483,105RGD
Cytogenetic Map11p15.4UniSTS
REN97851  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,364,603 - 5,364,851UniSTSGRCh37
Build 36115,321,179 - 5,321,427RGDNCBI36
Celera115,483,074 - 5,483,325RGD
Cytogenetic Map11p15.4UniSTS
REN97852  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,364,816 - 5,365,080UniSTSGRCh37
Build 36115,321,392 - 5,321,656RGDNCBI36
Celera115,483,290 - 5,483,554RGD
Cytogenetic Map11p15.4UniSTS
REN97853  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,365,051 - 5,365,286UniSTSGRCh37
Build 36115,321,627 - 5,321,862RGDNCBI36
Celera115,483,525 - 5,483,760RGD
Cytogenetic Map11p15.4UniSTS
HuRef115,024,084 - 5,024,319UniSTS
REN97854  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,365,277 - 5,365,501UniSTSGRCh37
Build 36115,321,853 - 5,322,077RGDNCBI36
Celera115,483,751 - 5,483,975RGD
Cytogenetic Map11p15.4UniSTS
HuRef115,024,310 - 5,024,534UniSTS
REN97855  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,365,486 - 5,365,733UniSTSGRCh37
Build 36115,322,062 - 5,322,309RGDNCBI36
Celera115,483,960 - 5,484,218RGD
Cytogenetic Map11p15.4UniSTS
HuRef115,024,519 - 5,024,777UniSTS
REN97856  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,365,704 - 5,365,960UniSTSGRCh37
Build 36115,322,280 - 5,322,536RGDNCBI36
Celera115,484,189 - 5,484,445RGD
Cytogenetic Map11p15.4UniSTS
HuRef115,024,748 - 5,025,004UniSTS
REN97857  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,365,959 - 5,366,212UniSTSGRCh37
Build 36115,322,535 - 5,322,788RGDNCBI36
Celera115,484,444 - 5,484,697RGD
Cytogenetic Map11p15.4UniSTS
HuRef115,025,003 - 5,025,256UniSTS
REN97858  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,366,205 - 5,366,442UniSTSGRCh37
Build 36115,322,781 - 5,323,018RGDNCBI36
Celera115,484,690 - 5,484,927RGD
Cytogenetic Map11p15.4UniSTS
HuRef115,025,249 - 5,025,486UniSTS
REN97859  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,366,405 - 5,366,663UniSTSGRCh37
Build 36115,322,981 - 5,323,239RGDNCBI36
Celera115,484,890 - 5,485,148RGD
Cytogenetic Map11p15.4UniSTS
HuRef115,025,449 - 5,025,707UniSTS
stSG610912  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37115,364,702 - 5,365,878UniSTSGRCh37
Build 36115,321,278 - 5,322,454RGDNCBI36
Celera115,483,173 - 5,484,363RGD


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 11 5 2 7 2 3 1 4 1 1 8
Low 19 24 39 14 54 16 52 14 40 16 265 67 2 3 24 2
Below cutoff 1378 1923 1210 299 1045 197 2464 986 1946 195 927 1107 105 774 1580 2

Sequence


RefSeq Acc Id: ENST00000300773   ⟹   ENSP00000300773
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl115,342,586 - 5,343,524 (-)Ensembl
RefSeq Acc Id: ENST00000415970
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl115,340,325 - 5,505,652 (-)Ensembl
RefSeq Acc Id: ENST00000418729   ⟹   ENSP00000495989
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl115,342,942 - 5,505,652 (-)Ensembl
RefSeq Acc Id: ENST00000420465
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl115,305,167 - 5,505,613 (-)Ensembl
RefSeq Acc Id: ENST00000420726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl115,303,444 - 5,505,613 (-)Ensembl
RefSeq Acc Id: NM_001005567   ⟹   NP_001005567
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38115,342,514 - 5,505,652 (-)NCBI
GRCh37115,362,113 - 5,368,140 (-)ENTREZGENE
Build 36115,320,392 - 5,321,330 (-)NCBI Archive
Celera115,482,287 - 5,483,225 (-)RGD
HuRef115,021,289 - 5,027,184 (-)ENTREZGENE
CHM1_1115,362,690 - 5,525,862 (-)NCBI
T2T-CHM13v2.0115,401,878 - 5,564,994 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001395252   ⟹   NP_001382181
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38115,342,586 - 5,343,524 (-)NCBI
T2T-CHM13v2.0115,401,950 - 5,402,888 (-)NCBI
RefSeq Acc Id: NR_038321
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38115,340,318 - 5,505,652 (-)NCBI
GRCh37115,362,113 - 5,368,140 (-)ENTREZGENE
HuRef115,021,289 - 5,027,184 (-)ENTREZGENE
CHM1_1115,361,059 - 5,525,862 (-)NCBI
T2T-CHM13v2.0115,399,679 - 5,564,994 (-)NCBI
Sequence:
RefSeq Acc Id: NP_001005567   ⟸   NM_001005567
- UniProtKB: B2RN59 (UniProtKB/Swiss-Prot),   Q9H339 (UniProtKB/Swiss-Prot),   A0A126GWB8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000495989   ⟸   ENST00000418729
RefSeq Acc Id: ENSP00000300773   ⟸   ENST00000300773
RefSeq Acc Id: NP_001382181   ⟸   NM_001395252
- UniProtKB: Q9H339 (UniProtKB/Swiss-Prot),   B2RN59 (UniProtKB/Swiss-Prot),   A0A126GWB8 (UniProtKB/TrEMBL)
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H339-F1-model_v2 AlphaFold Q9H339 1-312 view protein structure

Promoters
RGD ID:7219439
Promoter ID:EPDNEW_H15466
Type:multiple initiation site
Name:OR51B5_1
Description:olfactory receptor family 51 subfamily B member 5
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
GRCh38115,505,652 - 5,505,712EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19599 AgrOrtholog
COSMIC OR51B5 COSMIC
Ensembl Genes ENSG00000167355 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000300773 ENTREZGENE
  ENST00000300773.3 UniProtKB/Swiss-Prot
  ENST00000415970 ENTREZGENE
  ENST00000418729.1 UniProtKB/TrEMBL
Gene3D-CATH Rhodopsin 7-helix transmembrane proteins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000167355 GTEx
HGNC ID HGNC:19599 ENTREZGENE
Human Proteome Map OR51B5 Human Proteome Map
InterPro GPCR_Rhodpsn UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_Rhodpsn_7TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Olfact_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:282763 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 282763 ENTREZGENE
PANTHER OLFACTORY RECEPTOR 51B5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OLFACTORY RECEPTOR 56B1-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam 7tm_4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134907440 PharmGKB
PRINTS GPCRRHODOPSN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OLFACTORYR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE G_PROTEIN_RECEP_F1_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  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 A0A126GWB8 ENTREZGENE, UniProtKB/TrEMBL
  A0A2R8Y7B5_HUMAN UniProtKB/TrEMBL
  B2RN59 ENTREZGENE
  O51B5_HUMAN UniProtKB/Swiss-Prot
  Q05CQ2_HUMAN UniProtKB/TrEMBL
  Q9H339 ENTREZGENE
UniProt Secondary B2RN59 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-15 OR51B5  olfactory receptor family 51 subfamily B member 5  OR51B5  olfactory receptor, family 51, subfamily B, member 5  Symbol and/or name change 5135510 APPROVED