RHBDF2 (rhomboid 5 homolog 2) - Rat Genome Database

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Gene: RHBDF2 (rhomboid 5 homolog 2) Homo sapiens
Analyze
Symbol: RHBDF2
Name: rhomboid 5 homolog 2
RGD ID: 1320182
HGNC Page HGNC:20788
Description: Predicted to enable protein transporter activity. Predicted to be involved in negative regulation of protein secretion and regulation of epidermal growth factor receptor signaling pathway. Predicted to act upstream of or within protein localization to plasma membrane and regulation of metalloendopeptidase activity. Located in plasma membrane. Implicated in palmoplantar keratoderma-esophageal carcinoma syndrome.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ22341; inactive rhomboid protein 2; iRhom2; RHBDL5; RHBDL6; rhomboid 5 homolog 2 (Drosophila); rhomboid family member 2; rhomboid veinlet-like 5; rhomboid veinlet-like protein 5; rhomboid veinlet-like protein 6; rhomboid, veinlet-like 6; rhomboid, veinlet-like 6 (drosophila); rhomboid-like protein 6; TEC; TOC; TOCG; tylosis with oesophageal cancer
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
GRCh381776,470,893 - 76,501,427 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1776,470,891 - 76,501,790 (-)EnsemblGRCh38hg38GRCh38
GRCh371774,466,975 - 74,497,509 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361771,978,570 - 72,009,103 (-)NCBINCBI36Build 36hg18NCBI36
Build 341771,978,573 - 72,009,084NCBI
Celera1771,059,359 - 71,089,884 (-)NCBICelera
Cytogenetic Map17q25.1NCBI
HuRef1769,894,877 - 69,925,081 (-)NCBIHuRef
CHM1_11774,531,975 - 74,562,482 (-)NCBICHM1_1
T2T-CHM13v2.01777,367,469 - 77,398,038 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-acetamidofluorene  (ISO)
2-hydroxypropanoic acid  (EXP)
2-methylcholine  (EXP)
2-palmitoylglycerol  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-nonylphenol  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (ISO)
C60 fullerene  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
caffeine  (EXP)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
cisplatin  (EXP)
cobalt dichloride  (EXP,ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
coumarin  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
dexamethasone  (EXP)
dibutyl phthalate  (ISO)
diosgenin  (ISO)
disulfiram  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
fenamidone  (ISO)
fluoranthene  (ISO)
flutamide  (ISO)
FR900359  (EXP)
gentamycin  (ISO)
hydrogen peroxide  (EXP)
indole-3-methanol  (ISO)
indometacin  (EXP)
lipopolysaccharide  (ISO)
methapyrilene  (EXP)
methimazole  (ISO)
mitomycin C  (ISO)
N,N-diethyl-m-toluamide  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
N-methyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
nickel atom  (EXP)
O-methyleugenol  (EXP)
orphenadrine  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
perfluorononanoic acid  (EXP)
permethrin  (ISO)
phenobarbital  (ISO)
phorbol 13-acetate 12-myristate  (ISO)
pirinixic acid  (EXP)
quercetin  (EXP)
rac-lactic acid  (EXP)
rotenone  (EXP)
silicon dioxide  (ISO)
sodium arsenite  (EXP)
Soman  (ISO)
streptozocin  (ISO)
sulforaphane  (EXP)
sunitinib  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
triphenyl phosphate  (EXP)
tris(2-butoxyethyl) phosphate  (EXP)
urethane  (EXP)
valproic acid  (EXP,ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:7534553   PMID:7934162   PMID:8125298   PMID:10737800   PMID:12477932   PMID:12838346   PMID:14702039   PMID:15060002   PMID:15342556   PMID:19913121   PMID:20628086   PMID:21873635  
PMID:22265016   PMID:22344671   PMID:22638770   PMID:24643277   PMID:25129075   PMID:26186194   PMID:26535007   PMID:28128203   PMID:28514442   PMID:28611215   PMID:28815577   PMID:29069608  
PMID:29155878   PMID:29897333   PMID:29897336   PMID:30097271   PMID:30639242   PMID:30890028   PMID:31177093   PMID:31661139   PMID:31952546   PMID:32236893   PMID:32513696   PMID:32592194  
PMID:32825187   PMID:33585287   PMID:33845483   PMID:33961781   PMID:34079125   PMID:34930929   PMID:35217669   PMID:35585977   PMID:35748872   PMID:35887045   PMID:35944360   PMID:35971826  
PMID:36943153   PMID:36943228   PMID:36970206   PMID:37271223   PMID:37544908   PMID:38183983   PMID:38570362   PMID:38781971  


Genomics

Comparative Map Data
RHBDF2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381776,470,893 - 76,501,427 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1776,470,891 - 76,501,790 (-)EnsemblGRCh38hg38GRCh38
GRCh371774,466,975 - 74,497,509 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361771,978,570 - 72,009,103 (-)NCBINCBI36Build 36hg18NCBI36
Build 341771,978,573 - 72,009,084NCBI
Celera1771,059,359 - 71,089,884 (-)NCBICelera
Cytogenetic Map17q25.1NCBI
HuRef1769,894,877 - 69,925,081 (-)NCBIHuRef
CHM1_11774,531,975 - 74,562,482 (-)NCBICHM1_1
T2T-CHM13v2.01777,367,469 - 77,398,038 (-)NCBIT2T-CHM13v2.0
Rhbdf2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911116,488,991 - 116,517,786 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl11116,488,991 - 116,517,845 (-)EnsemblGRCm39 Ensembl
GRCm3811116,598,148 - 116,626,960 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11116,598,165 - 116,627,019 (-)EnsemblGRCm38mm10GRCm38
MGSCv3711116,459,479 - 116,488,333 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3611116,414,259 - 116,443,109 (-)NCBIMGSCv36mm8
Celera11128,368,470 - 128,397,196 (-)NCBICelera
Cytogenetic Map11E2NCBI
Rhbdf2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr810102,331,991 - 102,359,117 (-)NCBIGRCr8
mRatBN7.210101,833,157 - 101,860,283 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl10101,833,157 - 101,860,283 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx10106,890,199 - 106,917,416 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.010106,353,292 - 106,380,509 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.010101,754,031 - 101,781,156 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.010105,573,759 - 105,600,885 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl10105,573,752 - 105,600,913 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.010105,236,674 - 105,263,865 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.410106,715,043 - 106,742,198 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.110106,730,311 - 106,738,841 (-)NCBI
Celera10100,405,281 - 100,431,892 (-)NCBICelera
Cytogenetic Map10q32.2NCBI
Rhbdf2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555065,805,361 - 5,828,460 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555065,805,415 - 5,828,286 (+)NCBIChiLan1.0ChiLan1.0
RHBDF2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21992,513,478 - 92,544,513 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11797,338,675 - 97,369,676 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01770,418,630 - 70,449,510 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11775,968,187 - 76,139,913 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1775,968,187 - 75,987,768 (-)Ensemblpanpan1.1panPan2
RHBDF2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.194,211,951 - 4,240,253 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl94,226,364 - 4,237,825 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha94,907,636 - 4,919,058 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.094,889,459 - 4,916,093 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl94,889,502 - 4,914,357 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.194,927,393 - 4,938,809 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.095,047,228 - 5,058,643 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.095,128,477 - 5,139,898 (+)NCBIUU_Cfam_GSD_1.0
Rhbdf2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244056024,836,179 - 4,852,375 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365941,559,473 - 1,580,240 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365941,559,275 - 1,575,496 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RHBDF2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl125,010,178 - 5,036,255 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1125,008,534 - 5,036,278 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2124,860,172 - 4,888,010 (+)NCBISscrofa10.2Sscrofa10.2susScr3
RHBDF2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11645,176,152 - 45,205,464 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1645,194,852 - 45,204,761 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607715,916,859 - 15,946,176 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rhbdf2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248016,335,007 - 6,356,875 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248016,331,423 - 6,357,246 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RHBDF2
337 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001005498.4(RHBDF2):c.470T>C (p.Ile157Thr) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000024177]|not provided [RCV001852566] Chr17:76479008 [GRCh38]
Chr17:74475090 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_001005498.4(RHBDF2):c.479C>T (p.Pro160Leu) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000024178] Chr17:76478999 [GRCh38]
Chr17:74475081 [GRCh37]
Chr17:17q25.1		 pathogenic|likely pathogenic
GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3 copy number gain See cases [RCV000052486] Chr17:69209079..83086677 [GRCh38]
Chr17:67205220..81044553 [GRCh37]
Chr17:64716815..78637842 [NCBI36]
Chr17:17q24.3-25.3		 pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3		 pathogenic
NM_001005498.4(RHBDF2):c.956G>A (p.Arg319Gln) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV001292785] Chr17:76476989 [GRCh38]
Chr17:74473071 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1993G>A (p.Ala665Thr) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV001292940] Chr17:76472757 [GRCh38]
Chr17:74468839 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.2166C>A (p.Asn722Lys) single nucleotide variant Inborn genetic diseases [RCV003346429]|Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV001292881] Chr17:76471951 [GRCh38]
Chr17:74468033 [GRCh37]
Chr17:17q25.1		 uncertain significance
RHBDF2, PRO189LEU single nucleotide variant Howel-Evans syndrome [RCV000133542] Chr17:17q25.1 pathogenic
GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3 copy number gain See cases [RCV000143342] Chr17:69916435..83102552 [GRCh38]
Chr17:67912576..81048189 [GRCh37]
Chr17:65424171..78653717 [NCBI36]
Chr17:17q24.3-25.3		 pathogenic
NM_001005498.4(RHBDF2):c.277G>A (p.Ala93Thr) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000283463]|not provided [RCV000861475] Chr17:76479273 [GRCh38]
Chr17:74475355 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_001005498.4(RHBDF2):c.*198G>A single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000267114] Chr17:76471435 [GRCh38]
Chr17:74467517 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_001005498.4(RHBDF2):c.359T>C (p.Met120Thr) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000286576]|not provided [RCV003546529] Chr17:76479191 [GRCh38]
Chr17:74475273 [GRCh37]
Chr17:17q25.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001005498.4(RHBDF2):c.1809+11G>T single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000269735] Chr17:76473241 [GRCh38]
Chr17:74469323 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.-272C>A single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000274256] Chr17:76501405 [GRCh38]
Chr17:74497487 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_001005498.4(RHBDF2):c.1302+12G>A single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000292913] Chr17:76474718 [GRCh38]
Chr17:74470800 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.546G>A (p.Pro182=) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000274521]|not provided [RCV002524444] Chr17:76478932 [GRCh38]
Chr17:74475014 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_001005498.4(RHBDF2):c.1486A>G (p.Lys496Glu) single nucleotide variant Inborn genetic diseases [RCV002523026]|Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000296523]|RHBDF2-related disorder [RCV003910244]|not provided [RCV003237827] Chr17:76474121 [GRCh38]
Chr17:74470203 [GRCh37]
Chr17:17q25.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001005498.4(RHBDF2):c.1599C>T (p.Ser533=) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000261752]|not provided [RCV000861415] Chr17:76473878 [GRCh38]
Chr17:74469960 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_001005498.4(RHBDF2):c.788C>T (p.Ser263Phe) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000263043]|not provided [RCV000861191] Chr17:76477670 [GRCh38]
Chr17:74473752 [GRCh37]
Chr17:17q25.1		 benign
NM_001005498.4(RHBDF2):c.1638+12T>C single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000320336]|not provided [RCV002523025] Chr17:76473827 [GRCh38]
Chr17:74469909 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_001005498.4(RHBDF2):c.327G>T (p.Gln109His) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000342097] Chr17:76479223 [GRCh38]
Chr17:74475305 [GRCh37]
Chr17:17q25.1		 likely benign|uncertain significance
NM_001005498.4(RHBDF2):c.1004G>A (p.Arg335Gln) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000344269]|not provided [RCV001850740] Chr17:76476941 [GRCh38]
Chr17:74473023 [GRCh37]
Chr17:17q25.1		 benign|likely benign|uncertain significance
NM_001005498.4(RHBDF2):c.314G>A (p.Gly105Glu) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000392881]|not provided [RCV003418026] Chr17:76479236 [GRCh38]
Chr17:74475318 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_001005498.4(RHBDF2):c.1837C>T (p.Leu613=) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000309665]|not provided [RCV000860926] Chr17:76473078 [GRCh38]
Chr17:74469160 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_001005498.4(RHBDF2):c.921-15C>T single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000358020] Chr17:76477039 [GRCh38]
Chr17:74473121 [GRCh37]
Chr17:17q25.1		 benign|uncertain significance
NM_001005498.4(RHBDF2):c.1684A>G (p.Met562Val) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000359949]|not provided [RCV002056633] Chr17:76473697 [GRCh38]
Chr17:74469779 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_001005498.4(RHBDF2):c.*331dup duplication Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000271241] Chr17:76471301..76471302 [GRCh38]
Chr17:74467383..74467384 [GRCh37]
Chr17:17q25.1		 benign
NM_001005498.4(RHBDF2):c.*160G>A single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000282261] Chr17:76471473 [GRCh38]
Chr17:74467555 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.613C>T (p.Arg205Cys) single nucleotide variant Inborn genetic diseases [RCV004021714]|Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000369189]|RHBDF2-related disorder [RCV003950109] Chr17:76478865 [GRCh38]
Chr17:74474947 [GRCh37]
Chr17:17q25.1		 benign|likely benign|uncertain significance
NM_001005498.4(RHBDF2):c.*511G>A single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000274596]|not provided [RCV004709763] Chr17:76471122 [GRCh38]
Chr17:74467204 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_001005498.4(RHBDF2):c.2161C>T (p.Leu721Phe) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000313194] Chr17:76471956 [GRCh38]
Chr17:74468038 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.*551G>A single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000314555]|not provided [RCV004709762] Chr17:76471082 [GRCh38]
Chr17:74467164 [GRCh37]
Chr17:17q25.1		 benign
NM_001005498.4(RHBDF2):c.391C>T (p.Arg131Cys) single nucleotide variant Inborn genetic diseases [RCV002523027]|Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000326232] Chr17:76479159 [GRCh38]
Chr17:74475241 [GRCh37]
Chr17:17q25.1		 likely benign|uncertain significance
NM_001005498.4(RHBDF2):c.1495G>T (p.Asp499Tyr) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000371679]|RHBDF2-related disorder [RCV003910243]|not provided [RCV000860951] Chr17:76474112 [GRCh38]
Chr17:74470194 [GRCh37]
Chr17:17q25.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001005498.4(RHBDF2):c.-115G>A single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000369000] Chr17:76487805 [GRCh38]
Chr17:74483887 [GRCh37]
Chr17:17q25.1		 benign
NM_001005498.4(RHBDF2):c.*536G>A single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000369110] Chr17:76471097 [GRCh38]
Chr17:74467179 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.*51G>C single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000373163]|not provided [RCV004709764] Chr17:76471582 [GRCh38]
Chr17:74467664 [GRCh37]
Chr17:17q25.1		 benign
NM_001005498.4(RHBDF2):c.1638+7G>A single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000375061]|not provided [RCV003727681] Chr17:76473832 [GRCh38]
Chr17:74469914 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_001005498.4(RHBDF2):c.*698C>G single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000284468]|not provided [RCV004709758] Chr17:76470935 [GRCh38]
Chr17:74467017 [GRCh37]
Chr17:17q25.1		 benign
NM_001005498.4(RHBDF2):c.*181C>T single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000376777] Chr17:76471452 [GRCh38]
Chr17:74467534 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_001005498.4(RHBDF2):c.1029C>T (p.Gly343=) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000308118]|RHBDF2-related disorder [RCV003983016]|not provided [RCV002056634] Chr17:76476916 [GRCh38]
Chr17:74472998 [GRCh37]
Chr17:17q25.1		 benign
NM_001005498.4(RHBDF2):c.361C>T (p.Arg121Cys) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000380909]|not provided [RCV002056635] Chr17:76479189 [GRCh38]
Chr17:74475271 [GRCh37]
Chr17:17q25.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001005498.4(RHBDF2):c.31G>A (p.Val11Met) single nucleotide variant Inborn genetic diseases [RCV003298387]|Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000353596] Chr17:76481494 [GRCh38]
Chr17:74477576 [GRCh37]
Chr17:17q25.1		 likely benign|uncertain significance
NM_001005498.4(RHBDF2):c.681G>A (p.Ser227=) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000354584]|RHBDF2-related disorder [RCV003922382]|not provided [RCV000861544] Chr17:76477777 [GRCh38]
Chr17:74473859 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_001005498.4(RHBDF2):c.510G>A (p.Pro170=) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000289929]|RHBDF2-related disorder [RCV003912355]|not provided [RCV000882775] Chr17:76478968 [GRCh38]
Chr17:74475050 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_001005498.4(RHBDF2):c.536C>T (p.Pro179Leu) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000329731]|not provided [RCV001618570]|not specified [RCV001530107] Chr17:76478942 [GRCh38]
Chr17:74475024 [GRCh37]
Chr17:17q25.1		 benign
NM_001005498.4(RHBDF2):c.28A>C (p.Ser10Arg) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000404814]|RHBDF2-related disorder [RCV004730933]|not provided [RCV002056636]|not specified [RCV001579474] Chr17:76481497 [GRCh38]
Chr17:74477579 [GRCh37]
Chr17:17q25.1		 benign
NM_001005498.4(RHBDF2):c.*619A>G single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000405765]|not provided [RCV004709759] Chr17:76471014 [GRCh38]
Chr17:74467096 [GRCh37]
Chr17:17q25.1		 benign
NM_001005498.4(RHBDF2):c.1380C>A (p.Arg460=) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000387200]|not provided [RCV000860927] Chr17:76474457 [GRCh38]
Chr17:74470539 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_001005498.4(RHBDF2):c.658G>A (p.Ala220Thr) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000333593]|RHBDF2-related disorder [RCV003972381]|not provided [RCV000860825] Chr17:76478820 [GRCh38]
Chr17:74474902 [GRCh37]
Chr17:17q25.1		 benign
NM_001005498.4(RHBDF2):c.239G>A (p.Arg80His) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000338539]|RHBDF2-related disorder [RCV003940290]|not provided [RCV003546530] Chr17:76479766 [GRCh38]
Chr17:74475848 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_001005498.4(RHBDF2):c.1227+11T>C single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000391103] Chr17:76475019 [GRCh38]
Chr17:74471101 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.525G>A (p.Arg175=) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000384232]|not provided [RCV000905740] Chr17:76478953 [GRCh38]
Chr17:74475035 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_001005498.4(RHBDF2):c.680C>T (p.Ser227Leu) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000259658]|not provided [RCV003542296] Chr17:76477778 [GRCh38]
Chr17:74473860 [GRCh37]
Chr17:17q25.1		 likely benign|uncertain significance
NM_001005498.4(RHBDF2):c.-14G>A single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000314270]|not provided [RCV001618571]|not specified [RCV001529065] Chr17:76481538 [GRCh38]
Chr17:74477620 [GRCh37]
Chr17:17q25.1		 benign
NM_001005498.4(RHBDF2):c.*116G>A single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000337300] Chr17:76471517 [GRCh38]
Chr17:74467599 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_001005498.4(RHBDF2):c.151-39G>T single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000298609]|not provided [RCV001594955]|not specified [RCV001529450] Chr17:76479893 [GRCh38]
Chr17:74475975 [GRCh37]
Chr17:17q25.1		 benign
NM_001005498.4(RHBDF2):c.*711A>G single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000342845]|not provided [RCV004709757] Chr17:76470922 [GRCh38]
Chr17:74467004 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_001005498.4(RHBDF2):c.2451C>T (p.Cys817=) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000278688] Chr17:76471666 [GRCh38]
Chr17:74467748 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.*580C>T single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000299665]|not provided [RCV004709760] Chr17:76471053 [GRCh38]
Chr17:74467135 [GRCh37]
Chr17:17q25.1		 benign
NM_001005498.4(RHBDF2):c.704G>A (p.Arg235Gln) single nucleotide variant Inborn genetic diseases [RCV002524443]|Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000299765]|not provided [RCV001850741] Chr17:76477754 [GRCh38]
Chr17:74473836 [GRCh37]
Chr17:17q25.1		 benign|likely benign|uncertain significance
NM_001005498.4(RHBDF2):c.2265C>T (p.Ala755=) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000401927]|not provided [RCV002056632] Chr17:76471852 [GRCh38]
Chr17:74467934 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_001005498.4(RHBDF2):c.*551G>C single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000404186]|not provided [RCV004709761] Chr17:76471082 [GRCh38]
Chr17:74467164 [GRCh37]
Chr17:17q25.1		 benign
NM_001005498.4(RHBDF2):c.949G>A (p.Gly317Arg) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000403768]|not provided [RCV001859920] Chr17:76476996 [GRCh38]
Chr17:74473078 [GRCh37]
Chr17:17q25.1		 benign|likely benign|uncertain significance
NM_001005498.4(RHBDF2):c.1639-11C>G single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000265240]|not provided [RCV003736720] Chr17:76473753 [GRCh38]
Chr17:74469835 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_001005498.4(RHBDF2):c.946C>T (p.Pro316Ser) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000303189] Chr17:76476999 [GRCh38]
Chr17:74473081 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.2073G>A (p.Pro691=) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000349356] Chr17:76472044 [GRCh38]
Chr17:74468126 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1396C>T (p.Arg466Trp) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000351369]|not provided [RCV000947858]|not specified [RCV001579588] Chr17:76474441 [GRCh38]
Chr17:74470523 [GRCh37]
Chr17:17q25.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001005498.4(RHBDF2):c.213G>A (p.Glu71=) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000405552]|not provided [RCV000861481] Chr17:76479792 [GRCh38]
Chr17:74475874 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_001005498.4(RHBDF2):c.1812G>A (p.Val604=) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000364325]|not provided [RCV000861180]|not specified [RCV001579370] Chr17:76473103 [GRCh38]
Chr17:74469185 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_001005498.4(RHBDF2):c.1809+7C>T single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000305157]|not provided [RCV000861042] Chr17:76473245 [GRCh38]
Chr17:74469327 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_001005498.4(RHBDF2):c.2365G>A (p.Ala789Thr) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000352768]|not provided [RCV003546528] Chr17:76471752 [GRCh38]
Chr17:74467834 [GRCh37]
Chr17:17q25.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001005498.4(RHBDF2):c.*551G>T single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000354493] Chr17:76471082 [GRCh38]
Chr17:74467164 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_001005498.4(RHBDF2):c.*449C>T single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000329803] Chr17:76471184 [GRCh38]
Chr17:74467266 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.*287C>T single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000380377] Chr17:76471346 [GRCh38]
Chr17:74467428 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1575-8G>A single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000317033] Chr17:76473910 [GRCh38]
Chr17:74469992 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1302+8C>T single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000347735] Chr17:76474722 [GRCh38]
Chr17:74470804 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.*366C>G single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000365748] Chr17:76471267 [GRCh38]
Chr17:74467349 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024599.5(RHBDF2):c.*742A>C single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000344587] Chr17:76470891 [GRCh38]
Chr17:74466973 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_001005498.4(RHBDF2):c.1960G>T (p.Asp654Tyr) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000406108] Chr17:76472790 [GRCh38]
Chr17:74468872 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.*182G>A single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000322173] Chr17:76471451 [GRCh38]
Chr17:74467533 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024599.5(RHBDF2):c.-297C>T single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000396237] Chr17:76501430 [GRCh38]
Chr17:74497512 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001005498.4(RHBDF2):c.*642G>A single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000339242] Chr17:76470991 [GRCh38]
Chr17:74467073 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.*726T>G single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000287928] Chr17:76470907 [GRCh38]
Chr17:74466989 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.*702C>G single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000393536] Chr17:76470931 [GRCh38]
Chr17:74467013 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.*310G>A single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000326305] Chr17:76471323 [GRCh38]
Chr17:74467405 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_024599.5(RHBDF2):c.-305C>G single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000290452] Chr17:76501438 [GRCh38]
Chr17:74497520 [GRCh37]
Chr17:17q25.1		 benign|likely benign
GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3 copy number gain See cases [RCV000447539] Chr17:73951701..81041938 [GRCh37]
Chr17:17q25.1-25.3		 pathogenic
GRCh37/hg19 17q24.2-25.3(chr17:64241326-81041938)x3 copy number gain See cases [RCV000447577] Chr17:64241326..81041938 [GRCh37]
Chr17:17q24.2-25.3		 pathogenic
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3		 pathogenic
GRCh37/hg19 17q25.1-25.2(chr17:73992637-75099218)x4 copy number gain See cases [RCV000510197] Chr17:73992637..75099218 [GRCh37]
Chr17:17q25.1-25.2		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3 copy number gain See cases [RCV000510919] Chr17:73951701..81041938 [GRCh37]
Chr17:17q25.1-25.3		 pathogenic
NM_001005498.4(RHBDF2):c.164C>A (p.Ala55Asp) single nucleotide variant Inborn genetic diseases [RCV003241509] Chr17:76479841 [GRCh38]
Chr17:74475923 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1451G>A (p.Arg484Gln) single nucleotide variant Inborn genetic diseases [RCV003279505] Chr17:76474386 [GRCh38]
Chr17:74470468 [GRCh37]
Chr17:17q25.1		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3 copy number gain See cases [RCV000512573] Chr17:67002415..81041938 [GRCh37]
Chr17:17q24.2-25.3		 pathogenic
GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3 copy number gain not provided [RCV000683952] Chr17:63689671..81041938 [GRCh37]
Chr17:17q24.1-25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3 copy number gain not provided [RCV000762750] Chr17:64159738..74891024 [GRCh37]
Chr17:17q24.1-25.2		 likely pathogenic
NM_001005498.4(RHBDF2):c.150+117T>C single nucleotide variant not provided [RCV001648677] Chr17:76481258 [GRCh38]
Chr17:74477340 [GRCh37]
Chr17:17q25.1		 benign
NM_001005498.4(RHBDF2):c.1143C>T (p.Phe381=) single nucleotide variant not provided [RCV000901893] Chr17:76475114 [GRCh38]
Chr17:74471196 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001005498.4(RHBDF2):c.335G>A (p.Arg112His) single nucleotide variant Inborn genetic diseases [RCV004030210]|not provided [RCV000996608] Chr17:76479215 [GRCh38]
Chr17:74475297 [GRCh37]
Chr17:17q25.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001005498.4(RHBDF2):c.823del (p.Asp275fs) deletion Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV000778519] Chr17:76477277 [GRCh38]
Chr17:74473359 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1509C>T (p.Pro503=) single nucleotide variant RHBDF2-related disorder [RCV003950721]|not provided [RCV000910431] Chr17:76474098 [GRCh38]
Chr17:74470180 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001005498.4(RHBDF2):c.2034C>T (p.Ala678=) single nucleotide variant not provided [RCV000980525] Chr17:76472716 [GRCh38]
Chr17:74468798 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001005498.4(RHBDF2):c.1962C>T (p.Asp654=) single nucleotide variant not provided [RCV000922395] Chr17:76472788 [GRCh38]
Chr17:74468870 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001005498.4(RHBDF2):c.272+10C>T single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV002502641]|not provided [RCV000898911] Chr17:76479723 [GRCh38]
Chr17:74475805 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001005498.4(RHBDF2):c.487C>T (p.Arg163Trp) single nucleotide variant Inborn genetic diseases [RCV003267688] Chr17:76478991 [GRCh38]
Chr17:74475073 [GRCh37]
Chr17:17q25.1		 uncertain significance
GRCh37/hg19 17q25.1(chr17:74401337-74574103)x3 copy number gain not provided [RCV000848110] Chr17:74401337..74574103 [GRCh37]
Chr17:17q25.1		 uncertain significance
GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3 copy number gain not provided [RCV000849900] Chr17:62778720..81041938 [GRCh37]
Chr17:17q24.1-25.3		 pathogenic
NM_001005498.4(RHBDF2):c.178G>T (p.Val60Phe) single nucleotide variant Inborn genetic diseases [RCV003252168]|Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003459817] Chr17:76479827 [GRCh38]
Chr17:74475909 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1912G>A (p.Val638Met) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV001122212] Chr17:76472838 [GRCh38]
Chr17:74468920 [GRCh37]
Chr17:17q25.1		 benign|conflicting interpretations of pathogenicity
NM_001005498.4(RHBDF2):c.822T>C (p.Pro274=) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV001122305] Chr17:76477278 [GRCh38]
Chr17:74473360 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.238C>T (p.Arg80Cys) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV001128157]|not provided [RCV003688912] Chr17:76479767 [GRCh38]
Chr17:74475849 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_001005498.4(RHBDF2):c.-43G>A single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV001122430] Chr17:76487733 [GRCh38]
Chr17:74483815 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.801+145dup duplication not provided [RCV001616979] Chr17:76477511..76477512 [GRCh38]
Chr17:74473593..74473594 [GRCh37]
Chr17:17q25.1		 benign
NM_001005498.4(RHBDF2):c.151-109C>G single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV001796634]|not provided [RCV001645927] Chr17:76479963 [GRCh38]
Chr17:74476045 [GRCh37]
Chr17:17q25.1		 benign
NM_001005498.4(RHBDF2):c.98C>T (p.Pro33Leu) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV001122428] Chr17:76481427 [GRCh38]
Chr17:74477509 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.25G>A (p.Gly9Arg) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV001122429] Chr17:76481500 [GRCh38]
Chr17:74477582 [GRCh37]
Chr17:17q25.1		 benign
NM_001005498.4(RHBDF2):c.203G>A (p.Arg68Gln) single nucleotide variant Inborn genetic diseases [RCV004032274]|Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV001128158]|not provided [RCV003546637] Chr17:76479802 [GRCh38]
Chr17:74475884 [GRCh37]
Chr17:17q25.1		 benign|likely benign|uncertain significance
NM_001005498.4(RHBDF2):c.666C>T (p.Leu222=) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV001125092] Chr17:76478812 [GRCh38]
Chr17:74474894 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.-175A>G single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV001125204] Chr17:76487865 [GRCh38]
Chr17:74483947 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.*405T>C single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV001125855] Chr17:76471228 [GRCh38]
Chr17:74467310 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.*342T>C single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV001125856] Chr17:76471291 [GRCh38]
Chr17:74467373 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.392G>A (p.Arg131His) single nucleotide variant Inborn genetic diseases [RCV004029878]|not provided [RCV000957657] Chr17:76479158 [GRCh38]
Chr17:74475240 [GRCh37]
Chr17:17q25.1		 likely benign|uncertain significance
NM_001005498.4(RHBDF2):c.2064+216T>C single nucleotide variant not provided [RCV001682091] Chr17:76472470 [GRCh38]
Chr17:74468552 [GRCh37]
Chr17:17q25.1		 benign
NM_001005498.4(RHBDF2):c.1116-75C>T single nucleotide variant not provided [RCV001715010] Chr17:76475216 [GRCh38]
Chr17:74471298 [GRCh37]
Chr17:17q25.1		 benign
NM_001005498.4(RHBDF2):c.273-50C>T single nucleotide variant not provided [RCV001715144] Chr17:76479327 [GRCh38]
Chr17:74475409 [GRCh37]
Chr17:17q25.1		 benign
NM_001005498.4(RHBDF2):c.151-187CA[20] microsatellite not provided [RCV001654164] Chr17:76480007..76480008 [GRCh38]
Chr17:74476089..74476090 [GRCh37]
Chr17:17q25.1		 benign
NM_001005498.4(RHBDF2):c.151-187CA[18] microsatellite not provided [RCV001687427] Chr17:76480007..76480008 [GRCh38]
Chr17:74476089..74476090 [GRCh37]
Chr17:17q25.1		 benign
NM_001005498.4(RHBDF2):c.150+279C>T single nucleotide variant not provided [RCV001720425] Chr17:76481096 [GRCh38]
Chr17:74477178 [GRCh37]
Chr17:17q25.1		 benign
NM_001005498.4(RHBDF2):c.*53G>T single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV001127966] Chr17:76471580 [GRCh38]
Chr17:74467662 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1235G>A (p.Arg412Gln) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV001128066] Chr17:76474797 [GRCh38]
Chr17:74470879 [GRCh37]
Chr17:17q25.1		 likely benign|conflicting interpretations of pathogenicity
NM_001005498.4(RHBDF2):c.1039A>G (p.Asn347Asp) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV001128067] Chr17:76476906 [GRCh38]
Chr17:74472988 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.560T>C (p.Val187Ala) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV001125094] Chr17:76478918 [GRCh38]
Chr17:74475000 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.*537G>A single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV001124878] Chr17:76471096 [GRCh38]
Chr17:74467178 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.*475T>G single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV001124879] Chr17:76471158 [GRCh38]
Chr17:74467240 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.*205C>T single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV001125857] Chr17:76471428 [GRCh38]
Chr17:74467510 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.*703G>A single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV001122104] Chr17:76470930 [GRCh38]
Chr17:74467012 [GRCh37]
Chr17:17q25.1		 benign
NM_001005498.4(RHBDF2):c.*606C>T single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV001122105] Chr17:76471027 [GRCh38]
Chr17:74467109 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.*590C>T single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV001122106] Chr17:76471043 [GRCh38]
Chr17:74467125 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.2088C>T (p.Phe696=) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV001122210] Chr17:76472029 [GRCh38]
Chr17:74468111 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.2064+7A>G single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV001122211]|RHBDF2-related disorder [RCV003906230]|not provided [RCV001579429] Chr17:76472679 [GRCh38]
Chr17:74468761 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_001005498.4(RHBDF2):c.899C>G (p.Pro300Arg) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV001122303] Chr17:76477201 [GRCh38]
Chr17:74473283 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.151-187CA[19] microsatellite not provided [RCV001612851] Chr17:76480007..76480008 [GRCh38]
Chr17:74476089..74476090 [GRCh37]
Chr17:17q25.1		 benign
NM_001005498.4(RHBDF2):c.722G>A (p.Arg241His) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV001249419]|not provided [RCV002570399] Chr17:76477736 [GRCh38]
Chr17:74473818 [GRCh37]
Chr17:17q25.1		 uncertain significance|not provided
NM_001005498.4(RHBDF2):c.617G>C (p.Arg206Pro) single nucleotide variant Inborn genetic diseases [RCV002558236]|Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV001125093]|not provided [RCV003546634] Chr17:76478861 [GRCh38]
Chr17:74474943 [GRCh37]
Chr17:17q25.1		 likely benign|uncertain significance
NM_001005498.4(RHBDF2):c.-220+12G>A single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV001125205] Chr17:76501341 [GRCh38]
Chr17:74497423 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.-228C>T single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV001125206] Chr17:76501361 [GRCh38]
Chr17:74497443 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1574+7C>T single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV001125955] Chr17:76474026 [GRCh38]
Chr17:74470108 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001005498.4(RHBDF2):c.1531G>A (p.Gly511Ser) single nucleotide variant Inborn genetic diseases [RCV002556730]|Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV001125956]|not provided [RCV003238308] Chr17:76474076 [GRCh38]
Chr17:74470158 [GRCh37]
Chr17:17q25.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001005498.4(RHBDF2):c.1375C>G (p.Leu459Val) single nucleotide variant Inborn genetic diseases [RCV002556731]|Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV001125957] Chr17:76474462 [GRCh38]
Chr17:74470544 [GRCh37]
Chr17:17q25.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001005498.4(RHBDF2):c.319C>T (p.Arg107Trp) single nucleotide variant Inborn genetic diseases [RCV004032264]|Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV001126067] Chr17:76479231 [GRCh38]
Chr17:74475313 [GRCh37]
Chr17:17q25.1		 benign|uncertain significance
GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3 copy number gain not provided [RCV001006919] Chr17:73261871..78608763 [GRCh37]
Chr17:17q25.1-25.3		 pathogenic
NM_001005498.4(RHBDF2):c.151-27G>T single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV001128160] Chr17:76479881 [GRCh38]
Chr17:74475963 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.171G>A (p.Leu57=) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV001128159] Chr17:76479834 [GRCh38]
Chr17:74475916 [GRCh37]
Chr17:17q25.1		 benign
NM_001005498.4(RHBDF2):c.1908T>C (p.Ala636=) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV001122213] Chr17:76473007 [GRCh38]
Chr17:74469089 [GRCh37]
Chr17:17q25.1		 benign
NM_001005498.4(RHBDF2):c.853G>A (p.Ala285Thr) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV001122304]|not provided [RCV002556634] Chr17:76477247 [GRCh38]
Chr17:74473329 [GRCh37]
Chr17:17q25.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001005498.4(RHBDF2):c.556G>A (p.Gly186Arg) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV001294229] Chr17:76478922 [GRCh38]
Chr17:74475004 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.928T>C (p.Tyr310His) single nucleotide variant not provided [RCV001356900] Chr17:76477017 [GRCh38]
Chr17:74473099 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.2032G>A (p.Ala678Thr) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV001292966] Chr17:76472718 [GRCh38]
Chr17:74468800 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.-21-64G>A single nucleotide variant not provided [RCV001685927] Chr17:76481609 [GRCh38]
Chr17:74477691 [GRCh37]
Chr17:17q25.1		 benign
NM_001005498.4(RHBDF2):c.151-187CA[16] microsatellite not provided [RCV001717166] Chr17:76480008..76480009 [GRCh38]
Chr17:74476090..74476091 [GRCh37]
Chr17:17q25.1		 benign
NM_001005498.4(RHBDF2):c.151-187CA[12] microsatellite not provided [RCV001714574] Chr17:76480008..76480017 [GRCh38]
Chr17:74476090..74476099 [GRCh37]
Chr17:17q25.1		 benign
NM_001005498.4(RHBDF2):c.1116-7T>C single nucleotide variant not specified [RCV002246811] Chr17:76475148 [GRCh38]
Chr17:74471230 [GRCh37]
Chr17:17q25.1		 benign
NM_001005498.4(RHBDF2):c.617G>A (p.Arg206His) single nucleotide variant not provided [RCV003237617] Chr17:76478861 [GRCh38]
Chr17:74474943 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.947_948del (p.Pro316fs) deletion not provided [RCV003237622] Chr17:76476997..76476998 [GRCh38]
Chr17:74473079..74473080 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1301C>T (p.Ser434Leu) single nucleotide variant not provided [RCV003237620] Chr17:76474731 [GRCh38]
Chr17:74470813 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1637C>T (p.Pro546Leu) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003464132]|not provided [RCV003237619] Chr17:76473840 [GRCh38]
Chr17:74469922 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.616C>T (p.Arg206Cys) single nucleotide variant Inborn genetic diseases [RCV002540741]|not provided [RCV003237618] Chr17:76478862 [GRCh38]
Chr17:74474944 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1106A>T (p.Asp369Val) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV001788970] Chr17:76476839 [GRCh38]
Chr17:74472921 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.155A>G (p.Lys52Arg) single nucleotide variant Inborn genetic diseases [RCV004042831]|Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003471037]|not provided [RCV001913508] Chr17:76479850 [GRCh38]
Chr17:74475932 [GRCh37]
Chr17:17q25.1		 likely benign|uncertain significance
NM_001005498.4(RHBDF2):c.269G>A (p.Arg90His) single nucleotide variant Hepatoblastoma [RCV001843900] Chr17:76479736 [GRCh38]
Chr17:74475818 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.367G>A (p.Gly123Ser) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV004571591]|not provided [RCV001938102] Chr17:76479183 [GRCh38]
Chr17:74475265 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1165C>T (p.Leu389=) single nucleotide variant not provided [RCV002088893] Chr17:76475092 [GRCh38]
Chr17:74471174 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001005498.4(RHBDF2):c.995C>T (p.Ala332Val) single nucleotide variant RHBDF2-related disorder [RCV003926281]|not provided [RCV002171733] Chr17:76476950 [GRCh38]
Chr17:74473032 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_001005498.4(RHBDF2):c.2247C>T (p.Leu749=) single nucleotide variant not provided [RCV002079513] Chr17:76471870 [GRCh38]
Chr17:74467952 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001005498.4(RHBDF2):c.2194A>T (p.Ile732Phe) single nucleotide variant not provided [RCV002120285] Chr17:76471923 [GRCh38]
Chr17:74468005 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001005498.4(RHBDF2):c.1575-16T>A single nucleotide variant not provided [RCV002156980] Chr17:76473918 [GRCh38]
Chr17:74470000 [GRCh37]
Chr17:17q25.1		 benign
NM_001005498.4(RHBDF2):c.1194C>T (p.Pro398=) single nucleotide variant not provided [RCV002181612] Chr17:76475063 [GRCh38]
Chr17:74471145 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001005498.4(RHBDF2):c.1548G>A (p.Ser516=) single nucleotide variant not provided [RCV003121299] Chr17:76474059 [GRCh38]
Chr17:74470141 [GRCh37]
Chr17:17q25.1		 likely benign
GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3 copy number gain not provided [RCV002276051] Chr17:73481509..81043199 [GRCh37]
Chr17:17q25.1-25.3		 pathogenic
NM_001005498.4(RHBDF2):c.1243G>C (p.Gly415Arg) single nucleotide variant Inborn genetic diseases [RCV003260980]|Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003466049] Chr17:76474789 [GRCh38]
Chr17:74470871 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.151-23G>A single nucleotide variant Inborn genetic diseases [RCV003263465] Chr17:76479877 [GRCh38]
Chr17:74475959 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.737C>T (p.Pro246Leu) single nucleotide variant not provided [RCV002617230] Chr17:76477721 [GRCh38]
Chr17:74473803 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001005498.4(RHBDF2):c.32T>G (p.Val11Gly) single nucleotide variant Inborn genetic diseases [RCV002879634]|Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003466005] Chr17:76481493 [GRCh38]
Chr17:74477575 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1189G>A (p.Ala397Thr) single nucleotide variant Inborn genetic diseases [RCV002905396] Chr17:76475068 [GRCh38]
Chr17:74471150 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.151-59G>A single nucleotide variant Inborn genetic diseases [RCV002860259] Chr17:76479913 [GRCh38]
Chr17:74475995 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.484G>C (p.Ala162Pro) single nucleotide variant not provided [RCV002871560] Chr17:76478994 [GRCh38]
Chr17:74475076 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.935G>A (p.Arg312Gln) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003459745]|not provided [RCV003078860] Chr17:76477010 [GRCh38]
Chr17:74473092 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1063C>T (p.Arg355Cys) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003465864]|not provided [RCV002913885] Chr17:76476882 [GRCh38]
Chr17:74472964 [GRCh37]
Chr17:17q25.1		 likely benign|uncertain significance
NM_001005498.4(RHBDF2):c.125dup (p.Glu43fs) duplication not provided [RCV003023338] Chr17:76481399..76481400 [GRCh38]
Chr17:74477481..74477482 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.2389T>C (p.Tyr797His) single nucleotide variant not provided [RCV002893890] Chr17:76471728 [GRCh38]
Chr17:74467810 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1911-17G>A single nucleotide variant not provided [RCV002642612] Chr17:76472856 [GRCh38]
Chr17:74468938 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001005498.4(RHBDF2):c.561C>A (p.Val187=) single nucleotide variant not provided [RCV002649342] Chr17:76478917 [GRCh38]
Chr17:74474999 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001005498.4(RHBDF2):c.1459T>G (p.Cys487Gly) single nucleotide variant Inborn genetic diseases [RCV002897053] Chr17:76474378 [GRCh38]
Chr17:74470460 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1144G>A (p.Val382Ile) single nucleotide variant Inborn genetic diseases [RCV002673900]|Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003466007]|not provided [RCV003720732] Chr17:76475113 [GRCh38]
Chr17:74471195 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.337C>T (p.Arg113Cys) single nucleotide variant not provided [RCV003068104] Chr17:76479213 [GRCh38]
Chr17:74475295 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.151-41C>G single nucleotide variant Inborn genetic diseases [RCV002944703] Chr17:76479895 [GRCh38]
Chr17:74475977 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.272+18C>T single nucleotide variant not provided [RCV002590138] Chr17:76479715 [GRCh38]
Chr17:74475797 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001005498.4(RHBDF2):c.1639-11C>T single nucleotide variant not provided [RCV002610801] Chr17:76473753 [GRCh38]
Chr17:74469835 [GRCh37]
Chr17:17q25.1		 benign
NM_001005498.4(RHBDF2):c.95C>T (p.Pro32Leu) single nucleotide variant Inborn genetic diseases [RCV003195338] Chr17:76481430 [GRCh38]
Chr17:74477512 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1667A>G (p.His556Arg) single nucleotide variant Inborn genetic diseases [RCV003205546] Chr17:76473714 [GRCh38]
Chr17:74469796 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001005498.4(RHBDF2):c.1987C>T (p.Arg663Cys) single nucleotide variant Inborn genetic diseases [RCV003205346]|Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003466039] Chr17:76472763 [GRCh38]
Chr17:74468845 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.866G>A (p.Arg289Gln) single nucleotide variant Inborn genetic diseases [RCV003190727]|Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003466038] Chr17:76477234 [GRCh38]
Chr17:74473316 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1737T>G (p.Cys579Trp) single nucleotide variant Inborn genetic diseases [RCV003216931] Chr17:76473324 [GRCh38]
Chr17:74469406 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.845C>A (p.Pro282Gln) single nucleotide variant Inborn genetic diseases [RCV003339306] Chr17:76477255 [GRCh38]
Chr17:74473337 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1141T>G (p.Phe381Val) single nucleotide variant Inborn genetic diseases [RCV003357051] Chr17:76475116 [GRCh38]
Chr17:74471198 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.754G>A (p.Asp252Asn) single nucleotide variant not provided [RCV003421506] Chr17:76477704 [GRCh38]
Chr17:74473786 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.2398A>G (p.Asn800Asp) single nucleotide variant Inborn genetic diseases [RCV003374110] Chr17:76471719 [GRCh38]
Chr17:74467801 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1291G>C (p.Gly431Arg) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003463517] Chr17:76474741 [GRCh38]
Chr17:74470823 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1322G>A (p.Gly441Glu) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003463518] Chr17:76474515 [GRCh38]
Chr17:74470597 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.196C>G (p.Arg66Gly) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003463530] Chr17:76479809 [GRCh38]
Chr17:74475891 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.889C>T (p.Pro297Ser) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003463531] Chr17:76477211 [GRCh38]
Chr17:74473293 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.301G>A (p.Gly101Ser) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003463533] Chr17:76479249 [GRCh38]
Chr17:74475331 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.2072C>T (p.Pro691Leu) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003463539] Chr17:76472045 [GRCh38]
Chr17:74468127 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.139A>G (p.Met47Val) single nucleotide variant Inborn genetic diseases [RCV003378254]|not provided [RCV003738438] Chr17:76481386 [GRCh38]
Chr17:74477468 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1334C>T (p.Ser445Leu) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003463515] Chr17:76474503 [GRCh38]
Chr17:74470585 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1354G>A (p.Gly452Arg) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003463526] Chr17:76474483 [GRCh38]
Chr17:74470565 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.709C>T (p.Arg237Trp) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003463527] Chr17:76477749 [GRCh38]
Chr17:74473831 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1300T>C (p.Ser434Pro) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003463543] Chr17:76474732 [GRCh38]
Chr17:74470814 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.967C>T (p.Arg323Cys) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV004573375]|not provided [RCV003873544] Chr17:76476978 [GRCh38]
Chr17:74473060 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.37T>C (p.Ser13Pro) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003463512] Chr17:76481488 [GRCh38]
Chr17:74477570 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.29G>T (p.Ser10Ile) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003471829] Chr17:76481496 [GRCh38]
Chr17:74477578 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.295G>C (p.Val99Leu) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003471839] Chr17:76479255 [GRCh38]
Chr17:74475337 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.700C>G (p.Gln234Glu) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003471844] Chr17:76477758 [GRCh38]
Chr17:74473840 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.151-86G>A single nucleotide variant Inborn genetic diseases [RCV004364793]|Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003471853] Chr17:76479940 [GRCh38]
Chr17:74476022 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1252G>A (p.Glu418Lys) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003471842] Chr17:76474780 [GRCh38]
Chr17:74470862 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1493A>G (p.Gln498Arg) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003471854] Chr17:76474114 [GRCh38]
Chr17:74470196 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1851C>T (p.Leu617=) single nucleotide variant not provided [RCV003569240] Chr17:76473064 [GRCh38]
Chr17:74469146 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1116-12G>A single nucleotide variant not provided [RCV003872611] Chr17:76475153 [GRCh38]
Chr17:74471235 [GRCh37]
Chr17:17q25.1		 benign
NM_001005498.4(RHBDF2):c.1000G>C (p.Asp334His) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003471825] Chr17:76476945 [GRCh38]
Chr17:74473027 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.362G>A (p.Arg121His) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003471833] Chr17:76479188 [GRCh38]
Chr17:74475270 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.697G>A (p.Gly233Arg) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003471840] Chr17:76477761 [GRCh38]
Chr17:74473843 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.874C>T (p.Pro292Ser) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003471843] Chr17:76477226 [GRCh38]
Chr17:74473308 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1088G>A (p.Arg363Gln) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003471852] Chr17:76476857 [GRCh38]
Chr17:74472939 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1345C>T (p.Arg449Trp) single nucleotide variant Inborn genetic diseases [RCV004364795]|Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003471858]|not provided [RCV003779099] Chr17:76474492 [GRCh38]
Chr17:74470574 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.280G>A (p.Ala94Thr) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003463516] Chr17:76479270 [GRCh38]
Chr17:74475352 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1717A>G (p.Ile573Val) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003463519] Chr17:76473664 [GRCh38]
Chr17:74469746 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.412C>G (p.Gln138Glu) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003463524] Chr17:76479138 [GRCh38]
Chr17:74475220 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1212C>A (p.His404Gln) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003463528] Chr17:76475045 [GRCh38]
Chr17:74471127 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.443C>T (p.Ser148Phe) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003463534] Chr17:76479107 [GRCh38]
Chr17:74475189 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.2452G>A (p.Glu818Lys) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003463538] Chr17:76471665 [GRCh38]
Chr17:74467747 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.518T>C (p.Met173Thr) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003471836] Chr17:76478960 [GRCh38]
Chr17:74475042 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.338G>A (p.Arg113His) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003471838] Chr17:76479212 [GRCh38]
Chr17:74475294 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1174T>G (p.Cys392Gly) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003471846] Chr17:76475083 [GRCh38]
Chr17:74471165 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1924C>T (p.Leu642Phe) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003471848] Chr17:76472826 [GRCh38]
Chr17:74468908 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.131A>G (p.Gln44Arg) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003471831] Chr17:76481394 [GRCh38]
Chr17:74477476 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.577T>G (p.Phe193Val) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003471835] Chr17:76478901 [GRCh38]
Chr17:74474983 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1126A>G (p.Thr376Ala) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003471847] Chr17:76475131 [GRCh38]
Chr17:74471213 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.2443C>T (p.Arg815Cys) single nucleotide variant Inborn genetic diseases [RCV004364794]|Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003471856] Chr17:76471674 [GRCh38]
Chr17:74467756 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.371G>A (p.Arg124His) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003471857] Chr17:76479179 [GRCh38]
Chr17:74475261 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.2284A>G (p.Ile762Val) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003471826] Chr17:76471833 [GRCh38]
Chr17:74467915 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1618G>A (p.Asp540Asn) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003471828] Chr17:76473859 [GRCh38]
Chr17:74469941 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1030G>A (p.Val344Met) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003463514]|not provided [RCV003779098] Chr17:76476915 [GRCh38]
Chr17:74472997 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.2041A>G (p.Ile681Val) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003463520] Chr17:76472709 [GRCh38]
Chr17:74468791 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.313G>A (p.Gly105Arg) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003463521] Chr17:76479237 [GRCh38]
Chr17:74475319 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.2371G>A (p.Val791Met) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003463537] Chr17:76471746 [GRCh38]
Chr17:74467828 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.619A>G (p.Lys207Glu) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003463541] Chr17:76478859 [GRCh38]
Chr17:74474941 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1397G>A (p.Arg466Gln) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003471830] Chr17:76474440 [GRCh38]
Chr17:74470522 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1363G>A (p.Glu455Lys) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003471832] Chr17:76474474 [GRCh38]
Chr17:74470556 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1750C>T (p.Arg584Trp) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003471834] Chr17:76473311 [GRCh38]
Chr17:74469393 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.820C>A (p.Pro274Thr) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003471841]|not provided [RCV003732595] Chr17:76477280 [GRCh38]
Chr17:74473362 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1115G>A (p.Arg372Gln) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003471845] Chr17:76476830 [GRCh38]
Chr17:74472912 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.958C>T (p.Arg320Cys) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003471851] Chr17:76476987 [GRCh38]
Chr17:74473069 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1810-56G>A single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003471859] Chr17:76473161 [GRCh38]
Chr17:74469243 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.2353G>A (p.Gly785Ser) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003463510] Chr17:76471764 [GRCh38]
Chr17:74467846 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1017C>G (p.His339Gln) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003463511] Chr17:76476928 [GRCh38]
Chr17:74473010 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.2174C>T (p.Ala725Val) single nucleotide variant Inborn genetic diseases [RCV004364792]|Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003463513] Chr17:76471943 [GRCh38]
Chr17:74468025 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1918C>T (p.His640Tyr) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003463522] Chr17:76472832 [GRCh38]
Chr17:74468914 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1234C>T (p.Arg412Trp) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003463523] Chr17:76474798 [GRCh38]
Chr17:74470880 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.955C>T (p.Arg319Trp) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003463525] Chr17:76476990 [GRCh38]
Chr17:74473072 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.589C>T (p.Arg197Cys) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003463529] Chr17:76478889 [GRCh38]
Chr17:74474971 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1346G>A (p.Arg449Gln) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003463532]|not provided [RCV003885349] Chr17:76474491 [GRCh38]
Chr17:74470573 [GRCh37]
Chr17:17q25.1		 likely benign|uncertain significance
NM_001005498.4(RHBDF2):c.766G>A (p.Gly256Arg) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003463535] Chr17:76477692 [GRCh38]
Chr17:74473774 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.2064+231A>G single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003463536] Chr17:76472455 [GRCh38]
Chr17:74468537 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.829G>A (p.Val277Ile) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003463540] Chr17:76477271 [GRCh38]
Chr17:74473353 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1305T>G (p.Ile435Met) single nucleotide variant Inborn genetic diseases [RCV004661664]|Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003463542] Chr17:76474532 [GRCh38]
Chr17:74470614 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1113C>A (p.His371Gln) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003471827] Chr17:76476832 [GRCh38]
Chr17:74472914 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1507C>T (p.Pro503Ser) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003471850] Chr17:76474100 [GRCh38]
Chr17:74470182 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.784_785inv (p.Ser262Asp) inversion Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV003471855] Chr17:76477673..76477674 [GRCh38]
Chr17:74473755..74473756 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1730G>A (p.Gly577Asp) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV004573348]|not provided [RCV003827415] Chr17:76473651 [GRCh38]
Chr17:74469733 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1638+6T>C single nucleotide variant not provided [RCV003578096] Chr17:76473833 [GRCh38]
Chr17:74469915 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.672+20A>G single nucleotide variant not provided [RCV003578771] Chr17:76478786 [GRCh38]
Chr17:74474868 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001005498.4(RHBDF2):c.2346C>T (p.Ala782=) single nucleotide variant not provided [RCV003879212] Chr17:76471771 [GRCh38]
Chr17:74467853 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001005498.4(RHBDF2):c.1116-8_1116-7del microsatellite not provided [RCV003833349] Chr17:76475148..76475149 [GRCh38]
Chr17:74471230..74471231 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001005498.4(RHBDF2):c.2217C>T (p.Ile739=) single nucleotide variant not provided [RCV003726902] Chr17:76471900 [GRCh38]
Chr17:74467982 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001005498.4(RHBDF2):c.2386A>G (p.Ile796Val) single nucleotide variant not provided [RCV003717600] Chr17:76471731 [GRCh38]
Chr17:74467813 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001005498.4(RHBDF2):c.1115+20C>T single nucleotide variant not provided [RCV003816114] Chr17:76476810 [GRCh38]
Chr17:74472892 [GRCh37]
Chr17:17q25.1		 benign
NM_001005498.4(RHBDF2):c.2232C>T (p.His744=) single nucleotide variant not provided [RCV003561436] Chr17:76471885 [GRCh38]
Chr17:74467967 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001005498.4(RHBDF2):c.34T>A (p.Ser12Thr) single nucleotide variant Inborn genetic diseases [RCV004369181]|not provided [RCV003561456] Chr17:76481491 [GRCh38]
Chr17:74477573 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1227+20A>G single nucleotide variant not provided [RCV003836609] Chr17:76475010 [GRCh38]
Chr17:74471092 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001005498.4(RHBDF2):c.795T>C (p.Phe265=) single nucleotide variant not provided [RCV003725424] Chr17:76477663 [GRCh38]
Chr17:74473745 [GRCh37]
Chr17:17q25.1		 benign
NM_001005498.4(RHBDF2):c.802-8C>G single nucleotide variant not provided [RCV003548521] Chr17:76477306 [GRCh38]
Chr17:74473388 [GRCh37]
Chr17:17q25.1		 benign
NM_001005498.4(RHBDF2):c.2400_2410del (p.Trp801fs) deletion not provided [RCV003666787] Chr17:76471707..76471717 [GRCh38]
Chr17:74467789..74467799 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1195G>A (p.Val399Met) single nucleotide variant not provided [RCV003729766] Chr17:76475062 [GRCh38]
Chr17:74471144 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.494G>A (p.Arg165Gln) single nucleotide variant not provided [RCV003865899] Chr17:76478984 [GRCh38]
Chr17:74475066 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.2133G>A (p.Pro711=) single nucleotide variant not provided [RCV003840975] Chr17:76471984 [GRCh38]
Chr17:74468066 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001005498.4(RHBDF2):c.1373T>C (p.Val458Ala) single nucleotide variant not provided [RCV003706351] Chr17:76474464 [GRCh38]
Chr17:74470546 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.202C>G (p.Arg68Gly) single nucleotide variant not provided [RCV003728201] Chr17:76479803 [GRCh38]
Chr17:74475885 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.2190G>A (p.Leu730=) single nucleotide variant not provided [RCV003818372] Chr17:76471927 [GRCh38]
Chr17:74468009 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001005498.4(RHBDF2):c.1734-6C>A single nucleotide variant not provided [RCV003727572] Chr17:76473333 [GRCh38]
Chr17:74469415 [GRCh37]
Chr17:17q25.1		 benign
NM_001005498.4(RHBDF2):c.480G>A (p.Pro160=) single nucleotide variant not provided [RCV003728337] Chr17:76478998 [GRCh38]
Chr17:74475080 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001005498.4(RHBDF2):c.948C>T (p.Pro316=) single nucleotide variant not provided [RCV003737787] Chr17:76476997 [GRCh38]
Chr17:74473079 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001005498.4(RHBDF2):c.1011G>T (p.Lys337Asn) single nucleotide variant not provided [RCV003557235] Chr17:76476934 [GRCh38]
Chr17:74473016 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.900C>T (p.Pro300=) single nucleotide variant RHBDF2-related disorder [RCV003980992]|not provided [RCV003557270] Chr17:76477200 [GRCh38]
Chr17:74473282 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_001005498.4(RHBDF2):c.342C>G (p.Ser114Arg) single nucleotide variant not provided [RCV003722377] Chr17:76479208 [GRCh38]
Chr17:74475290 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1639-15G>T single nucleotide variant not provided [RCV003841808] Chr17:76473757 [GRCh38]
Chr17:74469839 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001005498.4(RHBDF2):c.2352C>T (p.Ala784=) single nucleotide variant not provided [RCV003729153] Chr17:76471765 [GRCh38]
Chr17:74467847 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001005498.4(RHBDF2):c.590G>A (p.Arg197His) single nucleotide variant not provided [RCV003859672] Chr17:76478888 [GRCh38]
Chr17:74474970 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1511C>T (p.Pro504Leu) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV004573358]|not provided [RCV003843796] Chr17:76474096 [GRCh38]
Chr17:74470178 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.*3G>A single nucleotide variant RHBDF2-related disorder [RCV003931934] Chr17:76471630 [GRCh38]
Chr17:74467712 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001005498.4(RHBDF2):c.673-9C>T single nucleotide variant RHBDF2-related disorder [RCV003934267] Chr17:76477794 [GRCh38]
Chr17:74473876 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001005498.4(RHBDF2):c.1005G>T (p.Arg335=) single nucleotide variant RHBDF2-related disorder [RCV003949674] Chr17:76476940 [GRCh38]
Chr17:74473022 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001005498.4(RHBDF2):c.1213G>C (p.Val405Leu) single nucleotide variant Inborn genetic diseases [RCV004449287] Chr17:76475044 [GRCh38]
Chr17:74471126 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.509C>T (p.Pro170Leu) single nucleotide variant Inborn genetic diseases [RCV004449293] Chr17:76478969 [GRCh38]
Chr17:74475051 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.703C>T (p.Arg235Trp) single nucleotide variant Inborn genetic diseases [RCV004449295] Chr17:76477755 [GRCh38]
Chr17:74473837 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.248C>A (p.Ala83Asp) single nucleotide variant Inborn genetic diseases [RCV004449291] Chr17:76479757 [GRCh38]
Chr17:74475839 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1033G>A (p.Val345Met) single nucleotide variant Inborn genetic diseases [RCV004449286] Chr17:76476912 [GRCh38]
Chr17:74472994 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1706G>A (p.Arg569His) single nucleotide variant Inborn genetic diseases [RCV004449289] Chr17:76473675 [GRCh38]
Chr17:74469757 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.2132C>T (p.Pro711Leu) single nucleotide variant Inborn genetic diseases [RCV004449290] Chr17:76471985 [GRCh38]
Chr17:74468067 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.365A>G (p.Tyr122Cys) single nucleotide variant Inborn genetic diseases [RCV004449292] Chr17:76479185 [GRCh38]
Chr17:74475267 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.647T>G (p.Leu216Trp) single nucleotide variant Inborn genetic diseases [RCV004449294] Chr17:76478831 [GRCh38]
Chr17:74474913 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.781G>T (p.Asp261Tyr) single nucleotide variant Inborn genetic diseases [RCV004449296] Chr17:76477677 [GRCh38]
Chr17:74473759 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1385G>A (p.Arg462Gln) single nucleotide variant Inborn genetic diseases [RCV004663016] Chr17:76474452 [GRCh38]
Chr17:74470534 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.422C>T (p.Pro141Leu) single nucleotide variant Inborn genetic diseases [RCV004663018] Chr17:76479128 [GRCh38]
Chr17:74475210 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.2333T>C (p.Val778Ala) single nucleotide variant Inborn genetic diseases [RCV004663021] Chr17:76471784 [GRCh38]
Chr17:74467866 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1636C>T (p.Pro546Ser) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV004574725] Chr17:76473841 [GRCh38]
Chr17:74469923 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1414G>A (p.Val472Ile) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV004574734] Chr17:76474423 [GRCh38]
Chr17:74470505 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.701A>G (p.Gln234Arg) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV004574735] Chr17:76477757 [GRCh38]
Chr17:74473839 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1586A>C (p.Glu529Ala) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV004574740] Chr17:76473891 [GRCh38]
Chr17:74469973 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.2171C>T (p.Ser724Leu) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV004574741] Chr17:76471946 [GRCh38]
Chr17:74468028 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1969A>G (p.Lys657Glu) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV004574742] Chr17:76472781 [GRCh38]
Chr17:74468863 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1445C>T (p.Thr482Ile) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV004574745] Chr17:76474392 [GRCh38]
Chr17:74470474 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.710G>A (p.Arg237Gln) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV004574756] Chr17:76477748 [GRCh38]
Chr17:74473830 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.484G>T (p.Ala162Ser) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV004574759] Chr17:76478994 [GRCh38]
Chr17:74475076 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1467G>C (p.Glu489Asp) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV004574726] Chr17:76474140 [GRCh38]
Chr17:74470222 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.70C>T (p.Pro24Ser) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV004574733] Chr17:76481455 [GRCh38]
Chr17:74477537 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.488G>A (p.Arg163Gln) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV004574743] Chr17:76478990 [GRCh38]
Chr17:74475072 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.2057G>A (p.Arg686Gln) single nucleotide variant Inborn genetic diseases [RCV004663019] Chr17:76472693 [GRCh38]
Chr17:74468775 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.184C>T (p.Leu62Phe) single nucleotide variant Inborn genetic diseases [RCV004663023] Chr17:76479821 [GRCh38]
Chr17:74475903 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.268C>T (p.Arg90Cys) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV004574727] Chr17:76479737 [GRCh38]
Chr17:74475819 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.458A>T (p.Lys153Met) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV004574729] Chr17:76479092 [GRCh38]
Chr17:74475174 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1130A>G (p.Tyr377Cys) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV004574736] Chr17:76475127 [GRCh38]
Chr17:74471209 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1189G>T (p.Ala397Ser) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV004574737] Chr17:76475068 [GRCh38]
Chr17:74471150 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1705C>T (p.Arg569Cys) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV004574749] Chr17:76473676 [GRCh38]
Chr17:74469758 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1064G>A (p.Arg355His) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV004574760] Chr17:76476881 [GRCh38]
Chr17:74472963 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.966G>T (p.Lys322Asn) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV004574763] Chr17:76476979 [GRCh38]
Chr17:74473061 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1844C>G (p.Pro615Arg) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV004574764] Chr17:76473071 [GRCh38]
Chr17:74469153 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1684A>C (p.Met562Leu) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV004574767] Chr17:76473697 [GRCh38]
Chr17:74469779 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1988G>A (p.Arg663His) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV004574738] Chr17:76472762 [GRCh38]
Chr17:74468844 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1051C>T (p.Arg351Cys) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV004574744] Chr17:76476894 [GRCh38]
Chr17:74472976 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.245A>G (p.Gln82Arg) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV004574747] Chr17:76479760 [GRCh38]
Chr17:74475842 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1328A>G (p.Lys443Arg) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV004574753] Chr17:76474509 [GRCh38]
Chr17:74470591 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.74C>T (p.Pro25Leu) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV004574761] Chr17:76481451 [GRCh38]
Chr17:74477533 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.29G>A (p.Ser10Asn) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV004574765] Chr17:76481496 [GRCh38]
Chr17:74477578 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.65G>A (p.Arg22Gln) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV004585154] Chr17:76481460 [GRCh38]
Chr17:74477542 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1911C>T (p.Gly637=) single nucleotide variant Inborn genetic diseases [RCV004663020] Chr17:76472839 [GRCh38]
Chr17:74468921 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001005498.4(RHBDF2):c.53G>A (p.Arg18His) single nucleotide variant Inborn genetic diseases [RCV004663022] Chr17:76481472 [GRCh38]
Chr17:74477554 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1149T>A (p.His383Gln) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV004574728] Chr17:76475108 [GRCh38]
Chr17:74471190 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1282T>G (p.Phe428Val) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV004574731] Chr17:76474750 [GRCh38]
Chr17:74470832 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1066A>G (p.Ser356Gly) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV004574746] Chr17:76476879 [GRCh38]
Chr17:74472961 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.2318G>A (p.Arg773Gln) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV004574752] Chr17:76471799 [GRCh38]
Chr17:74467881 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1390_1401del (p.Leu464_Asp467del) deletion Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV004574766] Chr17:76474436..76474447 [GRCh38]
Chr17:74470518..74470529 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1244G>T (p.Gly415Val) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV004574723] Chr17:76474788 [GRCh38]
Chr17:74470870 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.62G>T (p.Ser21Ile) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV004574724] Chr17:76481463 [GRCh38]
Chr17:74477545 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1258G>A (p.Val420Met) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV004574730] Chr17:76474774 [GRCh38]
Chr17:74470856 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.2329C>G (p.Leu777Val) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV004574732] Chr17:76471788 [GRCh38]
Chr17:74467870 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1818C>G (p.Cys606Trp) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV004574748] Chr17:76473097 [GRCh38]
Chr17:74469179 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.2480A>C (p.His827Pro) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV004574750] Chr17:76471637 [GRCh38]
Chr17:74467719 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1102T>C (p.Phe368Leu) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV004574754] Chr17:76476843 [GRCh38]
Chr17:74472925 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.40G>C (p.Val14Leu) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV004574755] Chr17:76481485 [GRCh38]
Chr17:74477567 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1796C>T (p.Thr599Ile) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV004574757] Chr17:76473265 [GRCh38]
Chr17:74469347 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.651A>C (p.Gln217His) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV004574758] Chr17:76478827 [GRCh38]
Chr17:74474909 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.226C>A (p.Arg76Ser) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV004574762] Chr17:76479779 [GRCh38]
Chr17:74475861 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.226C>T (p.Arg76Cys) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV004574769] Chr17:76479779 [GRCh38]
Chr17:74475861 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.242G>A (p.Arg81His) single nucleotide variant Palmoplantar keratoderma-esophageal carcinoma syndrome [RCV004574751] Chr17:76479763 [GRCh38]
Chr17:74475845 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1544C>T (p.Thr515Ile) single nucleotide variant Inborn genetic diseases [RCV004663017] Chr17:76474063 [GRCh38]
Chr17:74470145 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001005498.4(RHBDF2):c.1804T>A (p.Ser602Thr) single nucleotide variant not provided [RCV004769368] Chr17:76473257 [GRCh38]
Chr17:74469339 [GRCh37]
Chr17:17q25.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6909
Count of miRNA genes:1055
Interacting mature miRNAs:1330
Transcripts:ENST00000313080, ENST00000389760, ENST00000585701, ENST00000585989, ENST00000587640, ENST00000589526, ENST00000589582, ENST00000590168, ENST00000590288, ENST00000590322, ENST00000591192, ENST00000591255, ENST00000591697, ENST00000591860, ENST00000591879, ENST00000591885, ENST00000592123, ENST00000592378, ENST00000593103
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407043603GWAS692579_Hmean corpuscular volume QTL GWAS692579 (human)1e-11mean corpuscular volumemean corpuscular volume (CMO:0000038)177648249476482495Human
407147174GWAS796150_Hblood protein measurement QTL GWAS796150 (human)1e-23blood protein measurementblood protein measurement (CMO:0000028)177647865176478652Human
407312180GWAS961156_Heosinophil count QTL GWAS961156 (human)1e-08eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)177650013576500136Human
407250706GWAS899682_Heosinophil count QTL GWAS899682 (human)1e-10eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)177647587876475879Human
407339345GWAS988321_Heosinophil count QTL GWAS988321 (human)3e-13eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)177647587876475879Human
407337185GWAS986161_Hmean corpuscular volume QTL GWAS986161 (human)1e-08mean corpuscular volumemean corpuscular volume (CMO:0000038)177648249476482495Human
407217531GWAS866507_Heosinophil count QTL GWAS866507 (human)2e-10eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)177647587876475879Human

Markers in Region
D17S1817  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371774,482,093 - 74,482,293UniSTSGRCh37
Build 361771,993,688 - 71,993,888RGDNCBI36
Celera1771,074,475 - 71,074,670RGD
Cytogenetic Map17q25.1UniSTS
HuRef1463,814,603 - 63,816,293UniSTS
HuRef1769,909,656 - 69,909,840UniSTS
Marshfield Genetic Map17103.53UniSTS
Marshfield Genetic Map17103.53RGD
Genethon Genetic Map17104.7UniSTS
deCODE Assembly Map17115.44UniSTS
RH16010  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371774,467,060 - 74,467,211UniSTSGRCh37
Build 361771,978,655 - 71,978,806RGDNCBI36
Celera1771,059,444 - 71,059,595RGD
Cytogenetic Map17q25.1UniSTS
HuRef1769,894,962 - 69,895,113UniSTS
GeneMap99-GB4 RH Map17491.9UniSTS
NCBI RH Map17790.6UniSTS
D17S2239  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371774,494,852 - 74,495,013UniSTSGRCh37
Build 361772,006,447 - 72,006,608RGDNCBI36
Celera1771,087,228 - 71,087,389RGD
Cytogenetic Map17q25.1UniSTS
HuRef1769,922,426 - 69,922,585UniSTS
D1S1423  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p22.3-p21.32UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map10p14-p13UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map11q23-q24UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map22cen-q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map4q28UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map1q41-q42UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map11q24.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3q13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map9p21.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq27.2UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map20q11.21-q11.23UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map15q26UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p15.1-p14UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map7q32.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21-q24UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map8q24.12UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map6q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map20pter-p12UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map14q22.2UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p22-p21UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map3p12.3UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map3q11.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map20q13.33UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p25.1-p23UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic MapXp21.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map12p13-p12UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map4p15.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p16.3UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p22-p21.33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map2q31.3UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q32-q33UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map14q23-q24.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map2p24-p21UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic MapXq25-q26UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map1q25.1-q25.2UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map4q32-q34UniSTS
Cytogenetic MapXq25-q26.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map20q11.22-q12UniSTS
Cytogenetic Map4q34.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q31.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map21q21.2UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map20p12UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map22q13.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map11p14UniSTS
Cytogenetic Map1p32.1UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3p13UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map8q23UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic MapXq13UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map16q12-q13UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q13.1UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map22qUniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic MapXp22.12-p22.11UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map8p22-p21.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map7q22-qterUniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map5p15.1-p14.3UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic MapXq22.2UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map20q13.2-q13.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1950 465 2270 7305 6471 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001005498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_164785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_164786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_164787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005257669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001752625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC015802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY500247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE076010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM801831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP284970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP288209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC337840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC348660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000313080   ⟹   ENSP00000322775
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1776,470,896 - 76,501,407 (-)Ensembl
Ensembl Acc Id: ENST00000585701   ⟹   ENSP00000466029
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1776,481,383 - 76,493,154 (-)Ensembl
Ensembl Acc Id: ENST00000585989   ⟹   ENSP00000465632
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1776,479,212 - 76,501,421 (-)Ensembl
Ensembl Acc Id: ENST00000587640
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1776,475,923 - 76,481,527 (-)Ensembl
Ensembl Acc Id: ENST00000589526   ⟹   ENSP00000467677
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1776,479,736 - 76,493,202 (-)Ensembl
Ensembl Acc Id: ENST00000589582
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1776,474,204 - 76,481,547 (-)Ensembl
Ensembl Acc Id: ENST00000590168
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1776,470,891 - 76,477,731 (-)Ensembl
Ensembl Acc Id: ENST00000590288   ⟹   ENSP00000465990
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1776,481,446 - 76,501,371 (-)Ensembl
Ensembl Acc Id: ENST00000590322   ⟹   ENSP00000464975
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1776,481,439 - 76,488,178 (-)Ensembl
Ensembl Acc Id: ENST00000591192   ⟹   ENSP00000467971
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1776,481,384 - 76,493,154 (-)Ensembl
Ensembl Acc Id: ENST00000591255   ⟹   ENSP00000465124
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1776,481,485 - 76,501,415 (-)Ensembl
Ensembl Acc Id: ENST00000591697   ⟹   ENSP00000464942
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1776,479,783 - 76,501,423 (-)Ensembl
Ensembl Acc Id: ENST00000591860   ⟹   ENSP00000467468
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1776,471,814 - 76,473,075 (-)Ensembl
Ensembl Acc Id: ENST00000591879   ⟹   ENSP00000465531
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1776,479,786 - 76,481,894 (-)Ensembl
Ensembl Acc Id: ENST00000591885   ⟹   ENSP00000466867
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1776,471,069 - 76,501,790 (-)Ensembl
Ensembl Acc Id: ENST00000592123   ⟹   ENSP00000467549
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1776,479,082 - 76,501,412 (-)Ensembl
Ensembl Acc Id: ENST00000592378
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1776,479,146 - 76,501,384 (-)Ensembl
Ensembl Acc Id: ENST00000593103
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1776,487,411 - 76,501,415 (-)Ensembl
Ensembl Acc Id: ENST00000674875
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1776,475,792 - 76,501,360 (-)Ensembl
Ensembl Acc Id: ENST00000675367   ⟹   ENSP00000501790
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1776,470,896 - 76,501,423 (-)Ensembl
RefSeq Acc Id: NM_001005498   ⟹   NP_001005498
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381776,470,896 - 76,501,423 (-)NCBI
GRCh371774,466,975 - 74,497,509 (-)ENTREZGENE
Build 361771,978,570 - 72,009,103 (-)NCBI Archive
Celera1771,059,359 - 71,089,884 (-)RGD
HuRef1769,894,877 - 69,925,081 (-)ENTREZGENE
CHM1_11774,531,975 - 74,548,954 (-)NCBI
T2T-CHM13v2.01777,367,472 - 77,398,024 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001376228   ⟹   NP_001363157
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381776,470,896 - 76,501,423 (-)NCBI
T2T-CHM13v2.01777,367,472 - 77,398,024 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001376229   ⟹   NP_001363158
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381776,470,896 - 76,501,423 (-)NCBI
T2T-CHM13v2.01777,367,472 - 77,398,024 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001376230   ⟹   NP_001363159
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381776,470,896 - 76,501,423 (-)NCBI
T2T-CHM13v2.01777,367,472 - 77,398,024 (-)NCBI
Sequence:
RefSeq Acc Id: NM_024599   ⟹   NP_078875
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381776,470,893 - 76,501,427 (-)NCBI
GRCh371774,466,975 - 74,497,509 (-)ENTREZGENE
Build 361771,978,570 - 72,009,103 (-)NCBI Archive
Celera1771,059,359 - 71,089,884 (-)RGD
HuRef1769,894,877 - 69,925,081 (-)ENTREZGENE
CHM1_11774,531,975 - 74,562,482 (-)NCBI
T2T-CHM13v2.01777,367,469 - 77,398,028 (-)NCBI
Sequence:
RefSeq Acc Id: NR_164785
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381776,470,896 - 76,501,423 (-)NCBI
T2T-CHM13v2.01777,367,472 - 77,398,024 (-)NCBI
Sequence:
RefSeq Acc Id: NR_164786
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381776,470,896 - 76,501,423 (-)NCBI
T2T-CHM13v2.01777,367,472 - 77,398,024 (-)NCBI
Sequence:
RefSeq Acc Id: NR_164787
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381776,470,896 - 76,501,423 (-)NCBI
T2T-CHM13v2.01777,367,472 - 77,398,024 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005257669   ⟹   XP_005257726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381776,470,893 - 76,501,423 (-)NCBI
GRCh371774,466,975 - 74,497,509 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011525249   ⟹   XP_011523551
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381776,470,893 - 76,493,154 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011525250   ⟹   XP_011523552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381776,470,893 - 76,501,427 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011525251   ⟹   XP_011523553
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381776,470,893 - 76,501,427 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047436743   ⟹   XP_047292699
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381776,470,893 - 76,501,423 (-)NCBI
RefSeq Acc Id: XM_047436744   ⟹   XP_047292700
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381776,470,893 - 76,501,427 (-)NCBI
RefSeq Acc Id: XM_047436745   ⟹   XP_047292701
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381776,470,893 - 76,501,427 (-)NCBI
RefSeq Acc Id: XM_047436746   ⟹   XP_047292702
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381776,470,893 - 76,501,423 (-)NCBI
RefSeq Acc Id: XM_047436747   ⟹   XP_047292703
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381776,470,893 - 76,501,423 (-)NCBI
RefSeq Acc Id: XM_047436748   ⟹   XP_047292704
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381776,470,893 - 76,493,154 (-)NCBI
RefSeq Acc Id: XM_047436749   ⟹   XP_047292705
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381776,470,893 - 76,493,154 (-)NCBI
RefSeq Acc Id: XM_047436750   ⟹   XP_047292706
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381776,470,893 - 76,501,423 (-)NCBI
RefSeq Acc Id: XM_047436751   ⟹   XP_047292707
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381776,470,893 - 76,501,423 (-)NCBI
RefSeq Acc Id: XM_047436752   ⟹   XP_047292708
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381776,470,893 - 76,501,423 (-)NCBI
RefSeq Acc Id: XM_047436753   ⟹   XP_047292709
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381776,470,893 - 76,493,154 (-)NCBI
RefSeq Acc Id: XM_047436755   ⟹   XP_047292711
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381776,470,893 - 76,501,423 (-)NCBI
RefSeq Acc Id: XM_047436756   ⟹   XP_047292712
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381776,470,893 - 76,501,423 (-)NCBI
RefSeq Acc Id: XM_047436757   ⟹   XP_047292713
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381776,474,443 - 76,487,966 (-)NCBI
RefSeq Acc Id: XM_054317209   ⟹   XP_054173184
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01777,367,469 - 77,397,970 (-)NCBI
RefSeq Acc Id: XM_054317210   ⟹   XP_054173185
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01777,367,469 - 77,398,028 (-)NCBI
RefSeq Acc Id: XM_054317211   ⟹   XP_054173186
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01777,367,469 - 77,398,028 (-)NCBI
RefSeq Acc Id: XM_054317212   ⟹   XP_054173187
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01777,367,469 - 77,398,024 (-)NCBI
RefSeq Acc Id: XM_054317213   ⟹   XP_054173188
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01777,367,469 - 77,398,024 (-)NCBI
RefSeq Acc Id: XM_054317214   ⟹   XP_054173189
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01777,367,469 - 77,398,024 (-)NCBI
RefSeq Acc Id: XM_054317215   ⟹   XP_054173190
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01777,367,469 - 77,397,473 (-)NCBI
RefSeq Acc Id: XM_054317216   ⟹   XP_054173191
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01777,367,469 - 77,397,473 (-)NCBI
RefSeq Acc Id: XM_054317217   ⟹   XP_054173192
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01777,367,469 - 77,398,028 (-)NCBI
RefSeq Acc Id: XM_054317218   ⟹   XP_054173193
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01777,367,469 - 77,397,473 (-)NCBI
RefSeq Acc Id: XM_054317219   ⟹   XP_054173194
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01777,367,469 - 77,398,024 (-)NCBI
RefSeq Acc Id: XM_054317220   ⟹   XP_054173195
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01777,367,469 - 77,398,024 (-)NCBI
RefSeq Acc Id: XM_054317221   ⟹   XP_054173196
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01777,367,469 - 77,397,473 (-)NCBI
RefSeq Acc Id: XM_054317222   ⟹   XP_054173197
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01777,367,469 - 77,398,028 (-)NCBI
RefSeq Acc Id: XM_054317223   ⟹   XP_054173198
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01777,367,469 - 77,398,038 (-)NCBI
RefSeq Acc Id: XM_054317224   ⟹   XP_054173199
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01777,367,469 - 77,398,035 (-)NCBI
RefSeq Acc Id: XM_054317225   ⟹   XP_054173200
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01777,371,019 - 77,384,548 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001005498 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363157 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363158 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363159 (Get FASTA)   NCBI Sequence Viewer  
  NP_078875 (Get FASTA)   NCBI Sequence Viewer  
  XP_005257726 (Get FASTA)   NCBI Sequence Viewer  
  XP_011523551 (Get FASTA)   NCBI Sequence Viewer  
  XP_011523552 (Get FASTA)   NCBI Sequence Viewer  
  XP_011523553 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292699 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292700 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292701 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292702 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292703 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292704 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292705 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292706 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292707 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292708 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292709 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292711 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292712 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292713 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173184 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173185 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173186 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173187 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173188 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173189 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173190 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173191 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173192 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173193 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173194 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173195 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173196 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173197 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173198 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173199 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173200 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH16034 (Get FASTA)   NCBI Sequence Viewer  
  AAH35829 (Get FASTA)   NCBI Sequence Viewer  
  AAS77567 (Get FASTA)   NCBI Sequence Viewer  
  BAB15310 (Get FASTA)   NCBI Sequence Viewer  
  BAB84860 (Get FASTA)   NCBI Sequence Viewer  
  BAF84824 (Get FASTA)   NCBI Sequence Viewer  
  BAF84855 (Get FASTA)   NCBI Sequence Viewer  
  BAH13960 (Get FASTA)   NCBI Sequence Viewer  
  EAW89401 (Get FASTA)   NCBI Sequence Viewer  
  EAW89402 (Get FASTA)   NCBI Sequence Viewer  
  EAW89403 (Get FASTA)   NCBI Sequence Viewer  
  EAW89404 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000322775
  ENSP00000322775.3
  ENSP00000464942.1
  ENSP00000464975.1
  ENSP00000465124.1
  ENSP00000465531.1
  ENSP00000465632.1
  ENSP00000465990.1
  ENSP00000466029.1
  ENSP00000466867.1
  ENSP00000467468.1
  ENSP00000467549.1
  ENSP00000467677.1
  ENSP00000467971.1
  ENSP00000501790
  ENSP00000501790.1
GenBank Protein Q6PJF5 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_078875   ⟸   NM_024599
- Peptide Label: isoform 1
- UniProtKB: Q5YGQ8 (UniProtKB/Swiss-Prot),   Q5U607 (UniProtKB/Swiss-Prot),   A8K801 (UniProtKB/Swiss-Prot),   A6NEM3 (UniProtKB/Swiss-Prot),   Q9H6E9 (UniProtKB/Swiss-Prot),   Q6PJF5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001005498   ⟸   NM_001005498
- Peptide Label: isoform 2
- UniProtKB: Q6PJF5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005257726   ⟸   XM_005257669
- Peptide Label: isoform X1
- UniProtKB: Q5YGQ8 (UniProtKB/Swiss-Prot),   Q5U607 (UniProtKB/Swiss-Prot),   A8K801 (UniProtKB/Swiss-Prot),   A6NEM3 (UniProtKB/Swiss-Prot),   Q9H6E9 (UniProtKB/Swiss-Prot),   Q6PJF5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011523552   ⟸   XM_011525250
- Peptide Label: isoform X2
- UniProtKB: Q6PJF5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011523553   ⟸   XM_011525251
- Peptide Label: isoform X2
- UniProtKB: Q6PJF5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011523551   ⟸   XM_011525249
- Peptide Label: isoform X2
- UniProtKB: Q6PJF5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001363159   ⟸   NM_001376230
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001363157   ⟸   NM_001376228
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001363158   ⟸   NM_001376229
- Peptide Label: isoform 2
Ensembl Acc Id: ENSP00000466029   ⟸   ENST00000585701
Ensembl Acc Id: ENSP00000465632   ⟸   ENST00000585989
Ensembl Acc Id: ENSP00000467677   ⟸   ENST00000589526
Ensembl Acc Id: ENSP00000322775   ⟸   ENST00000313080
Ensembl Acc Id: ENSP00000464975   ⟸   ENST00000590322
Ensembl Acc Id: ENSP00000465990   ⟸   ENST00000590288
Ensembl Acc Id: ENSP00000464942   ⟸   ENST00000591697
Ensembl Acc Id: ENSP00000465531   ⟸   ENST00000591879
Ensembl Acc Id: ENSP00000466867   ⟸   ENST00000591885
Ensembl Acc Id: ENSP00000467468   ⟸   ENST00000591860
Ensembl Acc Id: ENSP00000465124   ⟸   ENST00000591255
Ensembl Acc Id: ENSP00000467971   ⟸   ENST00000591192
Ensembl Acc Id: ENSP00000467549   ⟸   ENST00000592123
Ensembl Acc Id: ENSP00000501790   ⟸   ENST00000675367
RefSeq Acc Id: XP_047292700   ⟸   XM_047436744
- Peptide Label: isoform X1
- UniProtKB: Q6PJF5 (UniProtKB/Swiss-Prot),   Q5YGQ8 (UniProtKB/Swiss-Prot),   Q5U607 (UniProtKB/Swiss-Prot),   A8K801 (UniProtKB/Swiss-Prot),   A6NEM3 (UniProtKB/Swiss-Prot),   Q9H6E9 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047292701   ⟸   XM_047436745
- Peptide Label: isoform X1
- UniProtKB: Q6PJF5 (UniProtKB/Swiss-Prot),   Q5YGQ8 (UniProtKB/Swiss-Prot),   Q5U607 (UniProtKB/Swiss-Prot),   A8K801 (UniProtKB/Swiss-Prot),   A6NEM3 (UniProtKB/Swiss-Prot),   Q9H6E9 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047292708   ⟸   XM_047436752
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047292703   ⟸   XM_047436747
- Peptide Label: isoform X1
- UniProtKB: Q6PJF5 (UniProtKB/Swiss-Prot),   Q5YGQ8 (UniProtKB/Swiss-Prot),   Q5U607 (UniProtKB/Swiss-Prot),   A8K801 (UniProtKB/Swiss-Prot),   A6NEM3 (UniProtKB/Swiss-Prot),   Q9H6E9 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047292707   ⟸   XM_047436751
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047292702   ⟸   XM_047436746
- Peptide Label: isoform X1
- UniProtKB: Q6PJF5 (UniProtKB/Swiss-Prot),   Q5YGQ8 (UniProtKB/Swiss-Prot),   Q5U607 (UniProtKB/Swiss-Prot),   A8K801 (UniProtKB/Swiss-Prot),   A6NEM3 (UniProtKB/Swiss-Prot),   Q9H6E9 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047292711   ⟸   XM_047436755
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047292699   ⟸   XM_047436743
- Peptide Label: isoform X1
- UniProtKB: Q6PJF5 (UniProtKB/Swiss-Prot),   Q5YGQ8 (UniProtKB/Swiss-Prot),   Q5U607 (UniProtKB/Swiss-Prot),   A8K801 (UniProtKB/Swiss-Prot),   A6NEM3 (UniProtKB/Swiss-Prot),   Q9H6E9 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047292712   ⟸   XM_047436756
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047292706   ⟸   XM_047436750
- Peptide Label: isoform X1
- UniProtKB: Q6PJF5 (UniProtKB/Swiss-Prot),   Q5YGQ8 (UniProtKB/Swiss-Prot),   Q5U607 (UniProtKB/Swiss-Prot),   A8K801 (UniProtKB/Swiss-Prot),   A6NEM3 (UniProtKB/Swiss-Prot),   Q9H6E9 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047292705   ⟸   XM_047436749
- Peptide Label: isoform X1
- UniProtKB: Q6PJF5 (UniProtKB/Swiss-Prot),   Q5YGQ8 (UniProtKB/Swiss-Prot),   Q5U607 (UniProtKB/Swiss-Prot),   A8K801 (UniProtKB/Swiss-Prot),   A6NEM3 (UniProtKB/Swiss-Prot),   Q9H6E9 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047292709   ⟸   XM_047436753
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047292704   ⟸   XM_047436748
- Peptide Label: isoform X1
- UniProtKB: Q6PJF5 (UniProtKB/Swiss-Prot),   Q5YGQ8 (UniProtKB/Swiss-Prot),   Q5U607 (UniProtKB/Swiss-Prot),   A8K801 (UniProtKB/Swiss-Prot),   A6NEM3 (UniProtKB/Swiss-Prot),   Q9H6E9 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047292713   ⟸   XM_047436757
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054173198   ⟸   XM_054317223
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054173199   ⟸   XM_054317224
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054173197   ⟸   XM_054317222
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054173185   ⟸   XM_054317210
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054173192   ⟸   XM_054317217
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054173186   ⟸   XM_054317211
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054173195   ⟸   XM_054317220
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054173189   ⟸   XM_054317214
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054173188   ⟸   XM_054317213
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054173194   ⟸   XM_054317219
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054173187   ⟸   XM_054317212
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054173184   ⟸   XM_054317209
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054173193   ⟸   XM_054317218
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054173191   ⟸   XM_054317216
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054173196   ⟸   XM_054317221
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054173190   ⟸   XM_054317215
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054173200   ⟸   XM_054317225
- Peptide Label: isoform X3
Protein Domains
Inactive rhomboid protein 1/2 N-terminal   Peptidase S54 rhomboid

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6PJF5-F1-model_v2 AlphaFold Q6PJF5 1-856 view protein structure

Promoters
RGD ID:6811303
Promoter ID:HG_ACW:36446
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:RHBDF2.DAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361771,985,301 - 71,985,801 (-)MPROMDB
RGD ID:6794157
Promoter ID:HG_KWN:27175
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:UC002JRR.1,   UC002JRS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361771,988,951 - 71,989,907 (-)MPROMDB
RGD ID:6794487
Promoter ID:HG_KWN:27178
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001005498,   NM_024599
Position:
Human AssemblyChrPosition (strand)Source
Build 361772,008,846 - 72,009,346 (-)MPROMDB
RGD ID:7236415
Promoter ID:EPDNEW_H23953
Type:initiation region
Name:RHBDF2_2
Description:rhomboid 5 homolog 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23954  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381776,493,154 - 76,493,214EPDNEW
RGD ID:7236417
Promoter ID:EPDNEW_H23954
Type:initiation region
Name:RHBDF2_1
Description:rhomboid 5 homolog 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23953  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381776,501,423 - 76,501,483EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20788 AgrOrtholog
COSMIC RHBDF2 COSMIC
Ensembl Genes ENSG00000129667 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000313080 ENTREZGENE
  ENST00000313080.8 UniProtKB/Swiss-Prot
  ENST00000585701.5 UniProtKB/TrEMBL
  ENST00000585989.5 UniProtKB/TrEMBL
  ENST00000589526.5 UniProtKB/TrEMBL
  ENST00000590288.1 UniProtKB/TrEMBL
  ENST00000590322.1 UniProtKB/TrEMBL
  ENST00000591192.1 UniProtKB/TrEMBL
  ENST00000591255.5 UniProtKB/TrEMBL
  ENST00000591697.5 UniProtKB/TrEMBL
  ENST00000591860.1 UniProtKB/TrEMBL
  ENST00000591879.1 UniProtKB/TrEMBL
  ENST00000591885.5 UniProtKB/Swiss-Prot
  ENST00000592123.5 UniProtKB/TrEMBL
  ENST00000675367 ENTREZGENE
  ENST00000675367.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.1540.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000129667 GTEx
HGNC ID HGNC:20788 ENTREZGENE
Human Proteome Map RHBDF2 Human Proteome Map
InterPro Inactive_Rhomboid UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S54_rhomboid_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rhomboid-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rhomboid_SP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:79651 UniProtKB/Swiss-Prot
NCBI Gene 79651 ENTREZGENE
OMIM 614404 OMIM
PANTHER INACTIVE RHOMBOID PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  INACTIVE RHOMBOID PROTEIN 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Rhomboid UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rhomboid_SP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134980674 PharmGKB
Superfamily-SCOP SSF144091 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A6NEM3 ENTREZGENE
  A8K801 ENTREZGENE
  K7EIY3_HUMAN UniProtKB/TrEMBL
  K7EJ10_HUMAN UniProtKB/TrEMBL
  K7EJD6_HUMAN UniProtKB/TrEMBL
  K7EKA3_HUMAN UniProtKB/TrEMBL
  K7EKI1_HUMAN UniProtKB/TrEMBL
  K7ELA9_HUMAN UniProtKB/TrEMBL
  K7EPN8_HUMAN UniProtKB/TrEMBL
  K7EPV3_HUMAN UniProtKB/TrEMBL
  K7EQ53_HUMAN UniProtKB/TrEMBL
  K7EQT5_HUMAN UniProtKB/TrEMBL
  Q5U607 ENTREZGENE
  Q5YGQ8 ENTREZGENE
  Q6PJF5 ENTREZGENE
  Q9H6E9 ENTREZGENE
  RHDF2_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A6NEM3 UniProtKB/Swiss-Prot
  A8K801 UniProtKB/Swiss-Prot
  Q5U607 UniProtKB/Swiss-Prot
  Q5YGQ8 UniProtKB/Swiss-Prot
  Q9H6E9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-17 RHBDF2  rhomboid 5 homolog 2    rhomboid 5 homolog 2 (Drosophila)  Symbol and/or name change 5135510 APPROVED
2016-03-24 RHBDF2  rhomboid 5 homolog 2 (Drosophila)  TOC  tylosis with oesophageal cancer  Data merged from RGD:1352098 737654 PROVISIONAL