RFWD3 (ring finger and WD repeat domain 3) - Rat Genome Database

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Gene: RFWD3 (ring finger and WD repeat domain 3) Homo sapiens
Analyze
Symbol: RFWD3
Name: ring finger and WD repeat domain 3
RGD ID: 1349611
HGNC Page HGNC:25539
Description: Enables MDM2/MDM4 family protein binding activity; p53 binding activity; and ubiquitin protein ligase activity. Involved in several processes, including DNA metabolic process; regulation of cell cycle phase transition; and response to ionizing radiation. Located in nucleoplasm and site of double-strand break. Implicated in Fanconi anemia complementation group W.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: E3 ubiquitin-protein ligase RFWD3; FANCW; FLJ10520; RING finger and WD repeat domain-containing protein 3; RING finger protein 201; RING-type E3 ubiquitin transferase RFWD3; RNF201
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
GRCh381674,621,399 - 74,666,877 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1674,621,399 - 74,666,877 (-)EnsemblGRCh38hg38GRCh38
GRCh371674,655,297 - 74,700,775 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361673,212,798 - 73,258,280 (-)NCBINCBI36Build 36hg18NCBI36
Celera1658,948,218 - 58,993,367 (-)NCBICelera
Cytogenetic Map16q23.1NCBI
HuRef1660,404,913 - 60,450,359 (-)NCBIHuRef
CHM1_11676,067,246 - 76,112,724 (-)NCBICHM1_1
T2T-CHM13v2.01680,668,129 - 80,713,619 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IEA)
nucleoplasm  (IDA)
nucleus  (IBA,IDA,IEA,IMP)
PML body  (IEA)
site of DNA damage  (IBA,IDA)
site of double-strand break  (IDA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal aortic morphology  (IAGP)
Abnormal aortic valve morphology  (IAGP)
Abnormal cardiac septum morphology  (IAGP)
Abnormal carotid artery morphology  (IAGP)
Abnormal eyelid morphology  (IAGP)
Abnormal femur morphology  (IAGP)
Abnormal foot morphology  (IAGP)
Abnormal localization of kidney  (IAGP)
Abnormal morphology of ulna  (IAGP)
Abnormal nervous system morphology  (IAGP)
Abnormal periventricular white matter morphology  (IAGP)
Abnormal pinna morphology  (IAGP)
Abnormal preputium morphology  (IAGP)
Abnormal radial ray morphology  (IAGP)
Abnormal renal morphology  (IAGP)
Abnormal testis morphology  (IAGP)
Abnormal thumb morphology  (IAGP)
Abnormality of blood and blood-forming tissues  (IAGP)
Abnormality of chromosome stability  (IAGP)
Abnormality of skin pigmentation  (IAGP)
Abnormality of the eye  (IAGP)
Abnormality of the hypothalamus-pituitary axis  (IAGP)
Abnormality of the liver  (IAGP)
Abnormality of the upper limb  (IAGP)
Abnormality of the urinary system  (IAGP)
Abnormality of the uterus  (IAGP)
Abnormality of vision  (IAGP)
Absent testis  (IAGP)
Absent thumb  (IAGP)
Aganglionic megacolon  (IAGP)
Almond-shaped palpebral fissure  (IAGP)
Anal atresia  (IAGP)
Anemia  (IAGP)
Aplasia/Hypoplasia of fingers  (IAGP)
Aplasia/Hypoplasia of the iris  (IAGP)
Aplasia/Hypoplasia of the radius  (IAGP)
Aplasia/Hypoplasia of the uvula  (IAGP)
Arteriovenous malformation  (IAGP)
Astigmatism  (IAGP)
Atrial septal defect  (IAGP)
Autosomal recessive inheritance  (IAGP)
Azoospermia  (IAGP)
Bicornuate uterus  (IAGP)
Cataract  (IAGP)
Chiari malformation  (IAGP)
Choanal atresia  (IAGP)
Cleft palate  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Clubbing of toes  (IAGP)
Congenital onset  (IAGP)
Cranial nerve paralysis  (IAGP)
Cryptorchidism  (IAGP)
Decreased fertility in males  (IAGP)
Decreased response to growth hormone stimulation test  (IAGP)
Dolichocephaly  (IAGP)
Duodenal atresia  (IAGP)
Duodenal stenosis  (IAGP)
Epicanthus  (IAGP)
Facial asymmetry  (IAGP)
Finger syndactyly  (IAGP)
Frontal bossing  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hearing abnormality  (IAGP)
Hearing impairment  (IAGP)
High palate  (IAGP)
Hip dislocation  (IAGP)
Hydrocephalus  (IAGP)
Hydroureter  (IAGP)
Hyperreflexia  (IAGP)
Hypertelorism  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypogonadism  (IAGP)
Hypopigmented skin patches  (IAGP)
Hypoplasia of the radius  (IAGP)
Hypoplasia of the ulna  (IAGP)
Hypospadias  (IAGP)
Intellectual disability  (IAGP)
Intrauterine growth retardation  (IAGP)
Irregular hyperpigmentation  (IAGP)
Leukopenia  (IAGP)
Meckel diverticulum  (IAGP)
Megakaryocyte dysplasia  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Microphthalmia  (IAGP)
Midface retrusion  (IAGP)
Multiple cafe-au-lait spots  (IAGP)
Myelodysplasia  (IAGP)
Neoplasm  (IAGP)
Nystagmus  (IAGP)
Oligohydramnios  (IAGP)
Patent ductus arteriosus  (IAGP)
Pes planus  (IAGP)
Polysplenia  (IAGP)
Proptosis  (IAGP)
Ptosis  (IAGP)
Pyridoxine-responsive sideroblastic anemia  (IAGP)
Recurrent urinary tract infections  (IAGP)
Reduced bone mineral density  (IAGP)
Renal hypoplasia  (IAGP)
Renal hypoplasia/aplasia  (IAGP)
Renal insufficiency  (IAGP)
Scoliosis  (IAGP)
Short palpebral fissure  (IAGP)
Short stature  (IAGP)
Sloping forehead  (IAGP)
Spastic paraplegia  (IAGP)
Spina bifida  (IAGP)
Strabismus  (IAGP)
Tetralogy of Fallot  (IAGP)
Thrombocytopenia  (IAGP)
Toe syndactyly  (IAGP)
Tracheoesophageal fistula  (IAGP)
Triphalangeal thumb  (IAGP)
Umbilical hernia  (IAGP)
Upslanted palpebral fissure  (IAGP)
Ventriculomegaly  (IAGP)
Visual impairment  (IAGP)
Weight loss  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:14702039   PMID:15489334   PMID:17567985   PMID:19322201   PMID:19549727   PMID:19690564   PMID:19844255   PMID:20173098   PMID:20301575   PMID:21504906   PMID:21558276   PMID:21832049  
PMID:21873635   PMID:22020285   PMID:22658674   PMID:22939624   PMID:23666239   PMID:24126761   PMID:24332808   PMID:24639526   PMID:25260751   PMID:25940091   PMID:26186194   PMID:26354767  
PMID:26474068   PMID:26496610   PMID:26673895   PMID:27545878   PMID:27609421   PMID:28514442   PMID:28575657   PMID:28575658   PMID:28666352   PMID:28691929   PMID:29576527   PMID:30021884  
PMID:30530694   PMID:30804502   PMID:31571161   PMID:31586073   PMID:32391871   PMID:32838362   PMID:32902405   PMID:33044890   PMID:33321094   PMID:33961781   PMID:35156780   PMID:35182466  
PMID:35271311   PMID:35509820   PMID:35830250   PMID:36688959   PMID:37036693   PMID:38777146   PMID:38803224  


Genomics

Comparative Map Data
RFWD3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381674,621,399 - 74,666,877 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1674,621,399 - 74,666,877 (-)EnsemblGRCh38hg38GRCh38
GRCh371674,655,297 - 74,700,775 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361673,212,798 - 73,258,280 (-)NCBINCBI36Build 36hg18NCBI36
Celera1658,948,218 - 58,993,367 (-)NCBICelera
Cytogenetic Map16q23.1NCBI
HuRef1660,404,913 - 60,450,359 (-)NCBIHuRef
CHM1_11676,067,246 - 76,112,724 (-)NCBICHM1_1
T2T-CHM13v2.01680,668,129 - 80,713,619 (-)NCBIT2T-CHM13v2.0
Rfwd3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm398111,997,576 - 112,026,854 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl8111,997,576 - 112,026,854 (-)EnsemblGRCm39 Ensembl
GRCm388111,270,944 - 111,300,222 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl8111,270,944 - 111,300,222 (-)EnsemblGRCm38mm10GRCm38
MGSCv378113,794,844 - 113,824,122 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv368114,157,617 - 114,186,895 (-)NCBIMGSCv36mm8
Celera8115,495,609 - 115,526,062 (-)NCBICelera
Cytogenetic Map8E1NCBI
cM Map857.98NCBI
Rfwd3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81956,145,221 - 56,177,871 (-)NCBIGRCr8
mRatBN7.21939,235,883 - 39,268,479 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1939,236,787 - 39,268,479 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1946,040,108 - 46,073,335 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01946,693,440 - 46,726,667 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01948,993,968 - 49,026,584 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01943,477,121 - 43,499,068 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1942,964,586 - 42,972,101 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01954,289,116 - 54,310,716 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.01953,787,638 - 53,798,031 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41941,190,144 - 41,222,888 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11941,195,928 - 41,258,147 (-)NCBI
Celera1938,624,795 - 38,656,471 (-)NCBICelera
Cytogenetic Map19q12NCBI
Rfwd3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554842,824,422 - 2,858,283 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554842,824,057 - 2,857,321 (+)NCBIChiLan1.0ChiLan1.0
RFWD3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21884,335,645 - 84,381,765 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11690,257,688 - 90,303,816 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01655,187,178 - 55,233,265 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11674,541,448 - 74,586,951 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1674,541,450 - 74,586,951 (-)Ensemblpanpan1.1panPan2
RFWD3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1575,960,909 - 76,001,088 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl575,960,955 - 76,000,467 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha575,936,552 - 75,976,729 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0576,317,468 - 76,357,876 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl576,317,515 - 76,357,874 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1576,220,089 - 76,259,587 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0576,042,941 - 76,083,200 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0576,535,192 - 76,575,417 (+)NCBIUU_Cfam_GSD_1.0
Rfwd3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934936,002,371 - 36,042,495 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647523,544,953 - 23,586,740 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647523,544,974 - 23,586,716 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RFWD3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl612,952,253 - 12,994,052 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1612,952,243 - 12,994,053 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2612,883,190 - 12,925,878 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RFWD3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1553,045,408 - 53,092,214 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl553,045,465 - 53,092,494 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366632332,173 - 78,985 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rfwd3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474612,225,293 - 12,253,246 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474612,217,287 - 12,252,183 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RFWD3
459 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3 copy number gain See cases [RCV000052422] Chr16:70514631..90081985 [GRCh38]
Chr16:70548534..90148393 [GRCh37]
Chr16:69106035..88675894 [NCBI36]
Chr16:16q22.1-24.3		 pathogenic
GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3 copy number gain See cases [RCV000052408] Chr16:58456122..74708723 [GRCh38]
Chr16:58490026..74742621 [GRCh37]
Chr16:57047527..73300122 [NCBI36]
Chr16:16q21-23.1		 pathogenic
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 copy number gain See cases [RCV000052421] Chr16:65313395..90081985 [GRCh38]
Chr16:65347298..90148393 [GRCh37]
Chr16:63904799..88675894 [NCBI36]
Chr16:16q21-24.3		 pathogenic
GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1 copy number loss See cases [RCV000053356] Chr16:69918076..76723348 [GRCh38]
Chr16:69951979..76757245 [GRCh37]
Chr16:68509480..75314746 [NCBI36]
Chr16:16q22.1-23.1		 pathogenic
GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1 copy number loss See cases [RCV000053357] Chr16:73049467..82576326 [GRCh38]
Chr16:73083366..82609931 [GRCh37]
Chr16:71640867..81167432 [NCBI36]
Chr16:16q22.3-23.3		 pathogenic
GRCh38/hg38 16q22.3-23.1(chr16:73917167-75319927)x3 copy number gain See cases [RCV000053868] Chr16:73917167..75319927 [GRCh38]
Chr16:73951066..75353825 [GRCh37]
Chr16:72508567..73911326 [NCBI36]
Chr16:16q22.3-23.1		 uncertain significance
GRCh38/hg38 16q23.1(chr16:74658508-75378014)x3 copy number gain See cases [RCV000053893] Chr16:74658508..75378014 [GRCh38]
Chr16:74692406..75411912 [GRCh37]
Chr16:73249907..73969413 [NCBI36]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1146A>G (p.Gln382=) single nucleotide variant not provided [RCV003666190] Chr16:74637904 [GRCh38]
Chr16:74671802 [GRCh37]
Chr16:16q23.1		 likely benign
GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1 copy number loss See cases [RCV000133814] Chr16:70414573..84908120 [GRCh38]
Chr16:70448476..84941726 [GRCh37]
Chr16:69005977..83499227 [NCBI36]
Chr16:16q22.1-24.1		 pathogenic
GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3 copy number gain See cases [RCV000135863] Chr16:62925929..84585795 [GRCh38]
Chr16:62959833..84619401 [GRCh37]
Chr16:61517334..83176902 [NCBI36]
Chr16:16q21-24.1		 pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3 copy number gain See cases [RCV000137495] Chr16:70749398..90096995 [GRCh38]
Chr16:70783301..90163403 [GRCh37]
Chr16:69340802..88690904 [NCBI36]
Chr16:16q22.1-24.3		 pathogenic
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 copy number gain See cases [RCV000139426] Chr16:65511483..90096995 [GRCh38]
Chr16:65545386..90163403 [GRCh37]
Chr16:64102887..88690904 [NCBI36]
Chr16:16q21-24.3		 pathogenic
GRCh38/hg38 16q23.1(chr16:74207339-74862823)x1 copy number loss See cases [RCV000139276] Chr16:74207339..74862823 [GRCh38]
Chr16:74241238..74896721 [GRCh37]
Chr16:72798739..73454222 [NCBI36]
Chr16:16q23.1		 uncertain significance
GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3 copy number gain See cases [RCV000142038] Chr16:69053457..83274681 [GRCh38]
Chr16:69087360..83308286 [GRCh37]
Chr16:67644861..81865787 [NCBI36]
Chr16:16q22.1-23.3		 pathogenic
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 copy number gain See cases [RCV000142578] Chr16:64389378..90081985 [GRCh38]
Chr16:64423281..90148393 [GRCh37]
Chr16:62980782..88675894 [NCBI36]
Chr16:16q21-24.3		 pathogenic|likely pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 copy number gain See cases [RCV000143425] Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3		 pathogenic
GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3 copy number gain See cases [RCV000143742] Chr16:65957829..83611443 [GRCh38]
Chr16:65991732..83645048 [GRCh37]
Chr16:64549233..82202549 [NCBI36]
Chr16:16q21-23.3		 pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Breast ductal adenocarcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3		 uncertain significance
GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1 copy number loss Breast ductal adenocarcinoma [RCV000207182] Chr16:72107834..90142285 [GRCh37]
Chr16:16q22.2-24.3		 uncertain significance
NM_018124.4(RFWD3):c.1916T>A (p.Ile639Lys) single nucleotide variant Fanconi anemia, complementation group W [RCV000515641]|not provided [RCV001194816] Chr16:74628505 [GRCh38]
Chr16:74662403 [GRCh37]
Chr16:16q23.1		 pathogenic
Single allele complex Breast ductal adenocarcinoma [RCV000207314] Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3		 uncertain significance
GRCh37/hg19 16q23.1(chr16:74530491-74754442)x1 copy number loss See cases [RCV000446489] Chr16:74530491..74754442 [GRCh37]
Chr16:16q23.1		 uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16q23.1(chr16:74150909-77077326)x1 copy number loss See cases [RCV000512133] Chr16:74150909..77077326 [GRCh37]
Chr16:16q23.1		 uncertain significance
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3		 uncertain significance
NM_018124.4(RFWD3):c.204_205dup (p.Leu69fs) duplication Fanconi anemia, complementation group W [RCV000515639]|not provided [RCV002525010] Chr16:74661244..74661245 [GRCh38]
Chr16:74695142..74695143 [GRCh37]
Chr16:16q23.1		 pathogenic|uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 copy number gain See cases [RCV000512511] Chr16:57051473..89797669 [GRCh37]
Chr16:16q13-24.3		 pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3 copy number gain not provided [RCV000683831] Chr16:72515938..90155062 [GRCh37]
Chr16:16q22.2-24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_018124.4(RFWD3):c.2205G>A (p.Ser735=) single nucleotide variant Fanconi anemia, complementation group W [RCV001543687]|not provided [RCV003120623] Chr16:74624048 [GRCh38]
Chr16:74657946 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.775A>G (p.Lys259Glu) single nucleotide variant not provided [RCV000973546] Chr16:74649149 [GRCh38]
Chr16:74683047 [GRCh37]
Chr16:16q23.1		 benign
GRCh37/hg19 16q22.2-23.1(chr16:72677179-77439111)x1 copy number loss not provided [RCV000847084] Chr16:72677179..77439111 [GRCh37]
Chr16:16q22.2-23.1		 uncertain significance
GRCh37/hg19 16q23.1(chr16:74612941-74669629)x1 copy number loss not provided [RCV000848550] Chr16:74612941..74669629 [GRCh37]
Chr16:16q23.1		 uncertain significance
GRCh37/hg19 16q23.1(chr16:74466959-74966742)x3 copy number gain not provided [RCV000846036] Chr16:74466959..74966742 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1956G>C (p.Val652=) single nucleotide variant not provided [RCV000916530] Chr16:74628465 [GRCh38]
Chr16:74662363 [GRCh37]
Chr16:16q23.1		 benign
Single allele deletion Neurodevelopmental disorder [RCV000787385] Chr16:74465138..75107923 [GRCh37]
Chr16:16q23.1		 uncertain significance
GRCh37/hg19 16q23.1(chr16:74462392-74722385)x1 copy number loss not provided [RCV000847375] Chr16:74462392..74722385 [GRCh37]
Chr16:16q23.1		 uncertain significance
GRCh37/hg19 16q23.1(chr16:74356233-75432089)x1 copy number loss not provided [RCV001006805] Chr16:74356233..75432089 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1367G>C (p.Cys456Ser) single nucleotide variant Fanconi anemia, complementation group W [RCV001250567] Chr16:74636405 [GRCh38]
Chr16:74670303 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.2088C>T (p.Cys696=) single nucleotide variant not provided [RCV003106260] Chr16:74626436 [GRCh38]
Chr16:74660334 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.567T>A (p.Pro189=) single nucleotide variant not provided [RCV003106397] Chr16:74652074 [GRCh38]
Chr16:74685972 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.2312A>T (p.Tyr771Phe) single nucleotide variant not provided [RCV003106504] Chr16:74623941 [GRCh38]
Chr16:74657839 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1379G>A (p.Ser460Asn) single nucleotide variant not provided [RCV003104606] Chr16:74636393 [GRCh38]
Chr16:74670291 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1162_1164del (p.Asp388del) deletion not provided [RCV003105207] Chr16:74637886..74637888 [GRCh38]
Chr16:74671784..74671786 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1176G>A (p.Arg392=) single nucleotide variant not provided [RCV000961076] Chr16:74637874 [GRCh38]
Chr16:74671772 [GRCh37]
Chr16:16q23.1		 benign
NM_018124.4(RFWD3):c.1100T>C (p.Met367Thr) single nucleotide variant RFWD3-related disorder [RCV003958139]|not provided [RCV000901162] Chr16:74637950 [GRCh38]
Chr16:74671848 [GRCh37]
Chr16:16q23.1		 benign
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3 copy number gain not provided [RCV001249359] Chr16:61524229..90155062 [GRCh37]
Chr16:16q21-24.3		 not provided
NM_018124.4(RFWD3):c.279C>T (p.Asn93=) single nucleotide variant not provided [RCV003106579] Chr16:74661171 [GRCh38]
Chr16:74695069 [GRCh37]
Chr16:16q23.1		 likely benign
GRCh37/hg19 16q23.1(chr16:74594664-74807466)x3 copy number gain not provided [RCV001006806] Chr16:74594664..74807466 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1623T>A (p.Pro541=) single nucleotide variant not provided [RCV001681709] Chr16:74630912 [GRCh38]
Chr16:74664810 [GRCh37]
Chr16:16q23.1		 benign
NM_018124.4(RFWD3):c.205_206dup (p.Leu70fs) duplication not provided [RCV001194815] Chr16:74661243..74661244 [GRCh38]
Chr16:74695141..74695142 [GRCh37]
Chr16:16q23.1		 pathogenic
GRCh37/hg19 16q22.1-23.1(chr16:68971067-74823560)x1 copy number loss See cases [RCV002285074] Chr16:68971067..74823560 [GRCh37]
Chr16:16q22.1-23.1		 pathogenic
NM_018124.4(RFWD3):c.1618C>T (p.Arg540Cys) single nucleotide variant not provided [RCV001355378] Chr16:74630917 [GRCh38]
Chr16:74664815 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1082C>T (p.Ser361Phe) single nucleotide variant RFWD3-related disorder [RCV003973220]|not provided [RCV002547692]|not specified [RCV001358412] Chr16:74637968 [GRCh38]
Chr16:74671866 [GRCh37]
Chr16:16q23.1		 benign
NM_018124.4(RFWD3):c.1237C>T (p.Gln413Ter) single nucleotide variant Fanconi anemia, complementation group W [RCV001335894] Chr16:74636535 [GRCh38]
Chr16:74670433 [GRCh37]
Chr16:16q23.1		 pathogenic
NM_018124.4(RFWD3):c.1189G>C (p.Val397Leu) single nucleotide variant Fanconi anemia, complementation group W [RCV001543686]|not provided [RCV002570663] Chr16:74637861 [GRCh38]
Chr16:74671759 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.634A>G (p.Ser212Gly) single nucleotide variant not provided [RCV003108766] Chr16:74652007 [GRCh38]
Chr16:74685905 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1755-33G>A single nucleotide variant Fanconi anemia, complementation group W [RCV001794899]|not provided [RCV004710376] Chr16:74628699 [GRCh38]
Chr16:74662597 [GRCh37]
Chr16:16q23.1		 benign
NM_018124.4(RFWD3):c.1212G>A (p.Thr404=) single nucleotide variant Fanconi anemia, complementation group W [RCV001794900]|not provided [RCV002541280] Chr16:74636560 [GRCh38]
Chr16:74670458 [GRCh37]
Chr16:16q23.1		 benign
NM_018124.4(RFWD3):c.269C>A (p.Thr90Asn) single nucleotide variant Fanconi anemia, complementation group W [RCV001794901]|not provided [RCV002541281] Chr16:74661181 [GRCh38]
Chr16:74695079 [GRCh37]
Chr16:16q23.1		 benign
GRCh37/hg19 16q23.1(chr16:74150909-74848930)x3 copy number gain not provided [RCV001829192] Chr16:74150909..74848930 [GRCh37]
Chr16:16q23.1		 uncertain significance
GRCh37/hg19 16q23.1(chr16:74530491-74754442) copy number loss not specified [RCV002052536] Chr16:74530491..74754442 [GRCh37]
Chr16:16q23.1		 uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 copy number gain not provided [RCV002221458] Chr16:46503968..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
NM_018124.4(RFWD3):c.1897T>G (p.Leu633Val) single nucleotide variant not provided [RCV003115176] Chr16:74628524 [GRCh38]
Chr16:74662422 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1726G>C (p.Val576Leu) single nucleotide variant not provided [RCV003118463] Chr16:74630809 [GRCh38]
Chr16:74664707 [GRCh37]
Chr16:16q23.1		 uncertain significance
NC_000016.9:g.(?_74657826)_(74671888_?)dup duplication not provided [RCV003119888] Chr16:74657826..74671888 [GRCh37]
Chr16:16q23.1		 uncertain significance
NC_000016.9:g.(?_74505051)_(74695347_?)dup duplication not provided [RCV003119889] Chr16:74505051..74695347 [GRCh37]
Chr16:16q23.1		 uncertain significance
NC_000016.9:g.(?_74485954)_(75339100_?)dup duplication Spastic paraplegia [RCV003122645] Chr16:74485954..75339100 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1376T>G (p.Leu459Arg) single nucleotide variant not provided [RCV003120026] Chr16:74636396 [GRCh38]
Chr16:74670294 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1340C>G (p.Ala447Gly) single nucleotide variant not provided [RCV003093995]|not specified [RCV002248155] Chr16:74636432 [GRCh38]
Chr16:74670330 [GRCh37]
Chr16:16q23.1		 uncertain significance
GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3 copy number gain Syndromic anorectal malformation [RCV002286607] Chr16:71641395..90161959 [GRCh37]
Chr16:16q22.2-24.3		 likely pathogenic
NM_018124.4(RFWD3):c.1577G>A (p.Ser526Asn) single nucleotide variant Fanconi anemia, complementation group W [RCV003148290] Chr16:74632523 [GRCh38]
Chr16:74666421 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1634G>A (p.Cys545Tyr) single nucleotide variant not specified [RCV004318478] Chr16:74630901 [GRCh38]
Chr16:74664799 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1868A>G (p.Asp623Gly) single nucleotide variant not provided [RCV002838176] Chr16:74628553 [GRCh38]
Chr16:74662451 [GRCh37]
Chr16:16q23.1		 uncertain significance
GRCh37/hg19 16q22.3-23.1(chr16:73673334-76105189)x4 copy number gain not provided [RCV002475008] Chr16:73673334..76105189 [GRCh37]
Chr16:16q22.3-23.1		 uncertain significance
NM_018124.4(RFWD3):c.2028C>T (p.Asp676=) single nucleotide variant not provided [RCV003033409] Chr16:74626496 [GRCh38]
Chr16:74660394 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.192A>G (p.Gln64=) single nucleotide variant not provided [RCV002970975] Chr16:74661258 [GRCh38]
Chr16:74695156 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.879G>C (p.Gln293His) single nucleotide variant not provided [RCV002615873] Chr16:74644649 [GRCh38]
Chr16:74678547 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.431A>G (p.His144Arg) single nucleotide variant not provided [RCV002615447] Chr16:74661019 [GRCh38]
Chr16:74694917 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1427-16A>G single nucleotide variant not provided [RCV002903479] Chr16:74632689 [GRCh38]
Chr16:74666587 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.511A>G (p.Ser171Gly) single nucleotide variant not provided [RCV002730955]|not specified [RCV004661463] Chr16:74660939 [GRCh38]
Chr16:74694837 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1182A>C (p.Gln394His) single nucleotide variant not provided [RCV002881510] Chr16:74637868 [GRCh38]
Chr16:74671766 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1668T>C (p.Tyr556=) single nucleotide variant not provided [RCV002838371] Chr16:74630867 [GRCh38]
Chr16:74664765 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.221C>T (p.Pro74Leu) single nucleotide variant not provided [RCV002615073] Chr16:74661229 [GRCh38]
Chr16:74695127 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1943G>A (p.Arg648Gln) single nucleotide variant not provided [RCV002862712] Chr16:74628478 [GRCh38]
Chr16:74662376 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.2182-14C>G single nucleotide variant not provided [RCV002837554] Chr16:74624085 [GRCh38]
Chr16:74657983 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.2059G>A (p.Val687Ile) single nucleotide variant not provided [RCV002616637] Chr16:74626465 [GRCh38]
Chr16:74660363 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.189C>T (p.Ser63=) single nucleotide variant not provided [RCV002771459] Chr16:74661261 [GRCh38]
Chr16:74695159 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.918C>T (p.Arg306=) single nucleotide variant not provided [RCV002816008] Chr16:74644610 [GRCh38]
Chr16:74678508 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1715C>G (p.Thr572Arg) single nucleotide variant not provided [RCV002816047] Chr16:74630820 [GRCh38]
Chr16:74664718 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1320G>C (p.Lys440Asn) single nucleotide variant not provided [RCV002774835] Chr16:74636452 [GRCh38]
Chr16:74670350 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1427-16A>C single nucleotide variant not provided [RCV002731208] Chr16:74632689 [GRCh38]
Chr16:74666587 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.2313T>C (p.Tyr771=) single nucleotide variant not provided [RCV003017010] Chr16:74623940 [GRCh38]
Chr16:74657838 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1057A>G (p.Ser353Gly) single nucleotide variant not provided [RCV003034895] Chr16:74644384 [GRCh38]
Chr16:74678282 [GRCh37]
Chr16:16q23.1		 uncertain significance
GRCh37/hg19 16q22.3-23.1(chr16:73858079-75855162)x1 copy number loss not provided [RCV002475848] Chr16:73858079..75855162 [GRCh37]
Chr16:16q22.3-23.1		 uncertain significance
NM_018124.4(RFWD3):c.901C>T (p.Arg301Trp) single nucleotide variant not provided [RCV003012122] Chr16:74644627 [GRCh38]
Chr16:74678525 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.2227G>A (p.Asp743Asn) single nucleotide variant not provided [RCV002994777] Chr16:74624026 [GRCh38]
Chr16:74657924 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1482G>A (p.Pro494=) single nucleotide variant not provided [RCV002730883] Chr16:74632618 [GRCh38]
Chr16:74666516 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.786C>T (p.Pro262=) single nucleotide variant not provided [RCV002866047] Chr16:74649138 [GRCh38]
Chr16:74683036 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.993C>A (p.Asn331Lys) single nucleotide variant not provided [RCV003017020] Chr16:74644448 [GRCh38]
Chr16:74678346 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.2182-3T>C single nucleotide variant RFWD3-related disorder [RCV003926505]|not provided [RCV002908953] Chr16:74624074 [GRCh38]
Chr16:74657972 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1755-13_1755-11del deletion not provided [RCV002750513] Chr16:74628677..74628679 [GRCh38]
Chr16:74662575..74662577 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.365A>G (p.Asn122Ser) single nucleotide variant not provided [RCV003698989]|not specified [RCV004127408] Chr16:74661085 [GRCh38]
Chr16:74694983 [GRCh37]
Chr16:16q23.1		 likely benign|uncertain significance
NM_018124.4(RFWD3):c.978A>G (p.Lys326=) single nucleotide variant not provided [RCV002756384] Chr16:74644550 [GRCh38]
Chr16:74678448 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1010G>A (p.Ser337Asn) single nucleotide variant not specified [RCV004225464] Chr16:74644431 [GRCh38]
Chr16:74678329 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.959T>G (p.Leu320Arg) single nucleotide variant not provided [RCV002842004] Chr16:74644569 [GRCh38]
Chr16:74678467 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.209T>G (p.Leu70Arg) single nucleotide variant not provided [RCV002863333] Chr16:74661241 [GRCh38]
Chr16:74695139 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.141G>A (p.Gln47=) single nucleotide variant not provided [RCV002881529] Chr16:74661309 [GRCh38]
Chr16:74695207 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1390A>G (p.Ile464Val) single nucleotide variant not provided [RCV002995326] Chr16:74636382 [GRCh38]
Chr16:74670280 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.793-2A>C single nucleotide variant not provided [RCV002858366] Chr16:74644737 [GRCh38]
Chr16:74678635 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.626A>C (p.Gln209Pro) single nucleotide variant not provided [RCV002993870] Chr16:74652015 [GRCh38]
Chr16:74685913 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1107G>C (p.Arg369Ser) single nucleotide variant not specified [RCV004142708] Chr16:74637943 [GRCh38]
Chr16:74671841 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1885C>T (p.His629Tyr) single nucleotide variant not provided [RCV002862154] Chr16:74628536 [GRCh38]
Chr16:74662434 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.475C>T (p.Arg159Trp) single nucleotide variant not provided [RCV002750551] Chr16:74660975 [GRCh38]
Chr16:74694873 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.792+14C>A single nucleotide variant not provided [RCV002816472] Chr16:74649118 [GRCh38]
Chr16:74683016 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1655C>A (p.Ala552Asp) single nucleotide variant not provided [RCV002861879] Chr16:74630880 [GRCh38]
Chr16:74664778 [GRCh37]
Chr16:16q23.1		 uncertain significance
GRCh37/hg19 16q22.3-23.1(chr16:73673334-78137887)x1 copy number loss not provided [RCV002475774] Chr16:73673334..78137887 [GRCh37]
Chr16:16q22.3-23.1		 uncertain significance
NM_018124.4(RFWD3):c.31C>G (p.Gln11Glu) single nucleotide variant not provided [RCV002858693] Chr16:74661419 [GRCh38]
Chr16:74695317 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.366C>G (p.Asn122Lys) single nucleotide variant not provided [RCV003015943] Chr16:74661084 [GRCh38]
Chr16:74694982 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.682G>A (p.Val228Ile) single nucleotide variant not specified [RCV004137120] Chr16:74651959 [GRCh38]
Chr16:74685857 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1577+15dup duplication not provided [RCV002755674] Chr16:74632507..74632508 [GRCh38]
Chr16:74666405..74666406 [GRCh37]
Chr16:16q23.1		 benign
NM_018124.4(RFWD3):c.1427G>T (p.Gly476Val) single nucleotide variant not specified [RCV004094522] Chr16:74632673 [GRCh38]
Chr16:74666571 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.676G>A (p.Gly226Arg) single nucleotide variant not provided [RCV002995045] Chr16:74651965 [GRCh38]
Chr16:74685863 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.901C>G (p.Arg301Gly) single nucleotide variant not provided [RCV002815953] Chr16:74644627 [GRCh38]
Chr16:74678525 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.412A>C (p.Arg138=) single nucleotide variant not provided [RCV002771177] Chr16:74661038 [GRCh38]
Chr16:74694936 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.2040A>G (p.Pro680=) single nucleotide variant not provided [RCV002947165] Chr16:74626484 [GRCh38]
Chr16:74660382 [GRCh37]
Chr16:16q23.1		 benign
NM_018124.4(RFWD3):c.1703A>T (p.Asp568Val) single nucleotide variant not provided [RCV002996761] Chr16:74630832 [GRCh38]
Chr16:74664730 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.2041A>G (p.Ile681Val) single nucleotide variant not provided [RCV003730366]|not specified [RCV004223846] Chr16:74626483 [GRCh38]
Chr16:74660381 [GRCh37]
Chr16:16q23.1		 likely benign|uncertain significance
NM_018124.4(RFWD3):c.1339G>A (p.Ala447Thr) single nucleotide variant not provided [RCV003016811] Chr16:74636433 [GRCh38]
Chr16:74670331 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.953C>T (p.Thr318Met) single nucleotide variant not provided [RCV002730712]|not specified [RCV004067814] Chr16:74644575 [GRCh38]
Chr16:74678473 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1079+12G>A single nucleotide variant not provided [RCV003012329] Chr16:74644350 [GRCh38]
Chr16:74678248 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.2146G>A (p.Val716Met) single nucleotide variant not provided [RCV003027886]|not specified [RCV004068692] Chr16:74626378 [GRCh38]
Chr16:74660276 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.14C>T (p.Ala5Val) single nucleotide variant not provided [RCV002927964] Chr16:74661436 [GRCh38]
Chr16:74695334 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1667A>G (p.Tyr556Cys) single nucleotide variant not provided [RCV002623243] Chr16:74630868 [GRCh38]
Chr16:74664766 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.143G>C (p.Gly48Ala) single nucleotide variant not provided [RCV003003257] Chr16:74661307 [GRCh38]
Chr16:74695205 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.987+11T>G single nucleotide variant not provided [RCV002953724] Chr16:74644530 [GRCh38]
Chr16:74678428 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.443C>T (p.Pro148Leu) single nucleotide variant not provided [RCV002640283] Chr16:74661007 [GRCh38]
Chr16:74694905 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.13G>A (p.Ala5Thr) single nucleotide variant not provided [RCV003038570] Chr16:74661437 [GRCh38]
Chr16:74695335 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1046C>T (p.Ala349Val) single nucleotide variant not provided [RCV002871464] Chr16:74644395 [GRCh38]
Chr16:74678293 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.954G>A (p.Thr318=) single nucleotide variant not provided [RCV002999143] Chr16:74644574 [GRCh38]
Chr16:74678472 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.2267G>A (p.Arg756His) single nucleotide variant not provided [RCV003079206] Chr16:74623986 [GRCh38]
Chr16:74657884 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.118C>G (p.Pro40Ala) single nucleotide variant not provided [RCV003068429]|not specified [RCV004070341] Chr16:74661332 [GRCh38]
Chr16:74695230 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1532G>C (p.Gly511Ala) single nucleotide variant not provided [RCV002846954] Chr16:74632568 [GRCh38]
Chr16:74666466 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.125A>G (p.Asp42Gly) single nucleotide variant not provided [RCV002796805] Chr16:74661325 [GRCh38]
Chr16:74695223 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.783C>T (p.Leu261=) single nucleotide variant not provided [RCV003053894] Chr16:74649141 [GRCh38]
Chr16:74683039 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.2182-6C>G single nucleotide variant not provided [RCV002999672] Chr16:74624077 [GRCh38]
Chr16:74657975 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.2094A>G (p.Leu698=) single nucleotide variant not provided [RCV002760906] Chr16:74626430 [GRCh38]
Chr16:74660328 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1143C>T (p.Leu381=) single nucleotide variant not provided [RCV002867379] Chr16:74637907 [GRCh38]
Chr16:74671805 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1009A>G (p.Ser337Gly) single nucleotide variant not provided [RCV002847013] Chr16:74644432 [GRCh38]
Chr16:74678330 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.597G>C (p.Glu199Asp) single nucleotide variant not provided [RCV002999236] Chr16:74652044 [GRCh38]
Chr16:74685942 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.529C>T (p.Pro177Ser) single nucleotide variant not provided [RCV003738311]|not specified [RCV004109375] Chr16:74652112 [GRCh38]
Chr16:74686010 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.2266C>T (p.Arg756Cys) single nucleotide variant RFWD3-related disorder [RCV003943698]|not provided [RCV002979564]|not specified [RCV004065257] Chr16:74623987 [GRCh38]
Chr16:74657885 [GRCh37]
Chr16:16q23.1		 likely benign|uncertain significance
NM_018124.4(RFWD3):c.27T>C (p.Asp9=) single nucleotide variant RFWD3-related disorder [RCV003963388]|not provided [RCV002912763] Chr16:74661423 [GRCh38]
Chr16:74695321 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.46C>T (p.His16Tyr) single nucleotide variant not provided [RCV003020431] Chr16:74661404 [GRCh38]
Chr16:74695302 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1459A>C (p.Met487Leu) single nucleotide variant not provided [RCV002909893] Chr16:74632641 [GRCh38]
Chr16:74666539 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.588T>C (p.Tyr196=) single nucleotide variant RFWD3-related disorder [RCV003953828]|not provided [RCV003052823] Chr16:74652053 [GRCh38]
Chr16:74685951 [GRCh37]
Chr16:16q23.1		 benign|likely benign
NM_018124.4(RFWD3):c.145G>A (p.Val49Ile) single nucleotide variant not provided [RCV002999479] Chr16:74661305 [GRCh38]
Chr16:74695203 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.2223G>C (p.Gln741His) single nucleotide variant not provided [RCV002637039]|not specified [RCV004070684] Chr16:74624030 [GRCh38]
Chr16:74657928 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1773G>A (p.Leu591=) single nucleotide variant not provided [RCV002867965] Chr16:74628648 [GRCh38]
Chr16:74662546 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.2182-19C>G single nucleotide variant not provided [RCV002736693] Chr16:74624090 [GRCh38]
Chr16:74657988 [GRCh37]
Chr16:16q23.1		 benign
NM_018124.4(RFWD3):c.1731G>T (p.Gln577His) single nucleotide variant not provided [RCV002975925]|not specified [RCV004065031] Chr16:74630804 [GRCh38]
Chr16:74664702 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1690A>G (p.Ile564Val) single nucleotide variant not provided [RCV003035747] Chr16:74630845 [GRCh38]
Chr16:74664743 [GRCh37]
Chr16:16q23.1		 benign
NM_018124.4(RFWD3):c.1520G>C (p.Ser507Thr) single nucleotide variant not specified [RCV004134850] Chr16:74632580 [GRCh38]
Chr16:74666478 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.163C>G (p.Pro55Ala) single nucleotide variant not provided [RCV003698999]|not specified [RCV004170448] Chr16:74661287 [GRCh38]
Chr16:74695185 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1735T>C (p.Leu579=) single nucleotide variant not provided [RCV002846955] Chr16:74630800 [GRCh38]
Chr16:74664698 [GRCh37]
Chr16:16q23.1		 benign
NM_018124.4(RFWD3):c.995A>G (p.Lys332Arg) single nucleotide variant not provided [RCV002780445] Chr16:74644446 [GRCh38]
Chr16:74678344 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.2152A>G (p.Thr718Ala) single nucleotide variant not provided [RCV003565587]|not specified [RCV004124097] Chr16:74626372 [GRCh38]
Chr16:74660270 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1417T>A (p.Phe473Ile) single nucleotide variant not provided [RCV003020841] Chr16:74636355 [GRCh38]
Chr16:74670253 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1705G>A (p.Val569Met) single nucleotide variant not provided [RCV003100383] Chr16:74630830 [GRCh38]
Chr16:74664728 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1899G>A (p.Leu633=) single nucleotide variant not provided [RCV002797392] Chr16:74628522 [GRCh38]
Chr16:74662420 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.721+14C>T single nucleotide variant not provided [RCV002760546] Chr16:74651906 [GRCh38]
Chr16:74685804 [GRCh37]
Chr16:16q23.1		 benign
NM_018124.4(RFWD3):c.1833C>G (p.Thr611=) single nucleotide variant not provided [RCV002637372] Chr16:74628588 [GRCh38]
Chr16:74662486 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.330C>T (p.His110=) single nucleotide variant not provided [RCV003035743] Chr16:74661120 [GRCh38]
Chr16:74695018 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.2182-5T>C single nucleotide variant not provided [RCV003037842] Chr16:74624076 [GRCh38]
Chr16:74657974 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1020C>T (p.Val340=) single nucleotide variant not provided [RCV002620347] Chr16:74644421 [GRCh38]
Chr16:74678319 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1353G>T (p.Arg451=) single nucleotide variant not provided [RCV002736741] Chr16:74636419 [GRCh38]
Chr16:74670317 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1530A>G (p.Arg510=) single nucleotide variant not provided [RCV002824303] Chr16:74632570 [GRCh38]
Chr16:74666468 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1288G>A (p.Gly430Ser) single nucleotide variant not provided [RCV003002187] Chr16:74636484 [GRCh38]
Chr16:74670382 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1888G>C (p.Val630Leu) single nucleotide variant not provided [RCV003037933] Chr16:74628533 [GRCh38]
Chr16:74662431 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.773G>A (p.Gly258Asp) single nucleotide variant not specified [RCV004143188] Chr16:74649151 [GRCh38]
Chr16:74683049 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1447A>G (p.Ser483Gly) single nucleotide variant not provided [RCV002760963] Chr16:74632653 [GRCh38]
Chr16:74666551 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.519-1G>A single nucleotide variant not provided [RCV002736391] Chr16:74652123 [GRCh38]
Chr16:74686021 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1584G>A (p.Glu528=) single nucleotide variant not provided [RCV002885174] Chr16:74630951 [GRCh38]
Chr16:74664849 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.58C>T (p.Gln20Ter) single nucleotide variant not provided [RCV002846615] Chr16:74661392 [GRCh38]
Chr16:74695290 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1071C>T (p.Arg357=) single nucleotide variant not provided [RCV002592168] Chr16:74644370 [GRCh38]
Chr16:74678268 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1709G>C (p.Arg570Pro) single nucleotide variant not provided [RCV002876700] Chr16:74630826 [GRCh38]
Chr16:74664724 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.489C>T (p.Ala163=) single nucleotide variant not provided [RCV002985617] Chr16:74660961 [GRCh38]
Chr16:74694859 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.2247C>T (p.Ile749=) single nucleotide variant not provided [RCV002957919] Chr16:74624006 [GRCh38]
Chr16:74657904 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.2018G>A (p.Arg673Gln) single nucleotide variant RFWD3-related disorder [RCV003963465]|not provided [RCV002957853]|not specified [RCV004067290] Chr16:74626506 [GRCh38]
Chr16:74660404 [GRCh37]
Chr16:16q23.1		 likely benign|uncertain significance
NM_018124.4(RFWD3):c.1969+9T>A single nucleotide variant not provided [RCV003025624] Chr16:74628443 [GRCh38]
Chr16:74662341 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1021G>A (p.Val341Ile) single nucleotide variant not provided [RCV002929122]|not specified [RCV004068067] Chr16:74644420 [GRCh38]
Chr16:74678318 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1996G>A (p.Val666Met) single nucleotide variant not provided [RCV002954317] Chr16:74626528 [GRCh38]
Chr16:74660426 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.53A>G (p.Glu18Gly) single nucleotide variant not provided [RCV002957463] Chr16:74661397 [GRCh38]
Chr16:74695295 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1972A>G (p.Lys658Glu) single nucleotide variant not provided [RCV003008156] Chr16:74626552 [GRCh38]
Chr16:74660450 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.291A>G (p.Arg97=) single nucleotide variant not provided [RCV002805890] Chr16:74661159 [GRCh38]
Chr16:74695057 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.946A>C (p.Ile316Leu) single nucleotide variant not specified [RCV004143785] Chr16:74644582 [GRCh38]
Chr16:74678480 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.194C>T (p.Ala65Val) single nucleotide variant not provided [RCV002745837] Chr16:74661256 [GRCh38]
Chr16:74695154 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1195-12T>G single nucleotide variant not provided [RCV003040788] Chr16:74636589 [GRCh38]
Chr16:74670487 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1592C>T (p.Thr531Ile) single nucleotide variant not provided [RCV002876687] Chr16:74630943 [GRCh38]
Chr16:74664841 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.518+12T>C single nucleotide variant not provided [RCV002741119] Chr16:74660920 [GRCh38]
Chr16:74694818 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.104TCC[1] (p.Leu36del) microsatellite not provided [RCV002595387] Chr16:74661341..74661343 [GRCh38]
Chr16:74695239..74695241 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.988-3T>C single nucleotide variant not provided [RCV002766251] Chr16:74644456 [GRCh38]
Chr16:74678354 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.190C>G (p.Gln64Glu) single nucleotide variant not specified [RCV004224374] Chr16:74661260 [GRCh38]
Chr16:74695158 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.527C>T (p.Ala176Val) single nucleotide variant not provided [RCV002852328] Chr16:74652114 [GRCh38]
Chr16:74686012 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1426+6G>A single nucleotide variant not provided [RCV002741167] Chr16:74636340 [GRCh38]
Chr16:74670238 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.122C>T (p.Ala41Val) single nucleotide variant not provided [RCV003057580] Chr16:74661328 [GRCh38]
Chr16:74695226 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1607A>C (p.Tyr536Ser) single nucleotide variant not provided [RCV002765671] Chr16:74630928 [GRCh38]
Chr16:74664826 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.967C>G (p.Gln323Glu) single nucleotide variant not provided [RCV002741410] Chr16:74644561 [GRCh38]
Chr16:74678459 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.2255T>C (p.Phe752Ser) single nucleotide variant not provided [RCV002710069] Chr16:74623998 [GRCh38]
Chr16:74657896 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.2261T>C (p.Val754Ala) single nucleotide variant not provided [RCV003005484] Chr16:74623992 [GRCh38]
Chr16:74657890 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1994G>A (p.Ser665Asn) single nucleotide variant not specified [RCV004102608] Chr16:74626530 [GRCh38]
Chr16:74660428 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.987+16A>T single nucleotide variant not provided [RCV002851151] Chr16:74644525 [GRCh38]
Chr16:74678423 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.792+20A>T single nucleotide variant not provided [RCV002740547] Chr16:74649112 [GRCh38]
Chr16:74683010 [GRCh37]
Chr16:16q23.1		 benign
NM_018124.4(RFWD3):c.1811A>G (p.Tyr604Cys) single nucleotide variant not provided [RCV003056379] Chr16:74628610 [GRCh38]
Chr16:74662508 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1166A>C (p.Lys389Thr) single nucleotide variant not provided [RCV002711523] Chr16:74637884 [GRCh38]
Chr16:74671782 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1965G>C (p.Arg655Ser) single nucleotide variant not provided [RCV002801129] Chr16:74628456 [GRCh38]
Chr16:74662354 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1990C>A (p.Arg664=) single nucleotide variant not provided [RCV002889996] Chr16:74626534 [GRCh38]
Chr16:74660432 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.208C>A (p.Leu70Ile) single nucleotide variant not provided [RCV002957920] Chr16:74661242 [GRCh38]
Chr16:74695140 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.889G>A (p.Ala297Thr) single nucleotide variant RFWD3-related disorder [RCV003936344]|not provided [RCV002891108] Chr16:74644639 [GRCh38]
Chr16:74678537 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.793-7C>T single nucleotide variant not provided [RCV003082754] Chr16:74644742 [GRCh38]
Chr16:74678640 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.2245A>G (p.Ile749Val) single nucleotide variant not provided [RCV002740987] Chr16:74624008 [GRCh38]
Chr16:74657906 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1577+19T>C single nucleotide variant not provided [RCV002829021] Chr16:74632504 [GRCh38]
Chr16:74666402 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.29T>A (p.Val10Asp) single nucleotide variant not provided [RCV003111649]|not specified [RCV004089523] Chr16:74661421 [GRCh38]
Chr16:74695319 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.328C>T (p.His110Tyr) single nucleotide variant not provided [RCV002623542] Chr16:74661122 [GRCh38]
Chr16:74695020 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.835A>G (p.Met279Val) single nucleotide variant RFWD3-related disorder [RCV003963630]|not provided [RCV003082376] Chr16:74644693 [GRCh38]
Chr16:74678591 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.792+19T>A single nucleotide variant not provided [RCV002741104] Chr16:74649113 [GRCh38]
Chr16:74683011 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.642T>C (p.Ser214=) single nucleotide variant not provided [RCV002928840] Chr16:74651999 [GRCh38]
Chr16:74685897 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.2181+9G>C single nucleotide variant not provided [RCV003084438] Chr16:74626334 [GRCh38]
Chr16:74660232 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.95G>T (p.Gly32Val) single nucleotide variant not provided [RCV002740759] Chr16:74661355 [GRCh38]
Chr16:74695253 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.926A>G (p.His309Arg) single nucleotide variant not provided [RCV003042598] Chr16:74644602 [GRCh38]
Chr16:74678500 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1183A>C (p.Arg395=) single nucleotide variant not provided [RCV002958649] Chr16:74637867 [GRCh38]
Chr16:74671765 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.198A>G (p.Thr66=) single nucleotide variant not provided [RCV003059021] Chr16:74661252 [GRCh38]
Chr16:74695150 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1364A>G (p.Tyr455Cys) single nucleotide variant not provided [RCV003083245] Chr16:74636408 [GRCh38]
Chr16:74670306 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.2307C>T (p.His769=) single nucleotide variant not provided [RCV003041535] Chr16:74623946 [GRCh38]
Chr16:74657844 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1903C>T (p.Pro635Ser) single nucleotide variant not provided [RCV002917353] Chr16:74628518 [GRCh38]
Chr16:74662416 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1155C>A (p.Val385=) single nucleotide variant not provided [RCV002741482] Chr16:74637895 [GRCh38]
Chr16:74671793 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.937T>C (p.Tyr313His) single nucleotide variant not specified [RCV004170577] Chr16:74644591 [GRCh38]
Chr16:74678489 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.52G>A (p.Glu18Lys) single nucleotide variant not provided [RCV003042730] Chr16:74661398 [GRCh38]
Chr16:74695296 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.339A>G (p.Pro113=) single nucleotide variant not provided [RCV003056381] Chr16:74661111 [GRCh38]
Chr16:74695009 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1594G>A (p.Val532Met) single nucleotide variant not provided [RCV002651551]|not specified [RCV004072134] Chr16:74630941 [GRCh38]
Chr16:74664839 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.323G>T (p.Gly108Val) single nucleotide variant not provided [RCV002895452] Chr16:74661127 [GRCh38]
Chr16:74695025 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1483A>G (p.Met495Val) single nucleotide variant not provided [RCV002941956]|not specified [RCV004067131] Chr16:74632617 [GRCh38]
Chr16:74666515 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.2085T>C (p.Thr695=) single nucleotide variant not provided [RCV003026577] Chr16:74626439 [GRCh38]
Chr16:74660337 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.2063A>T (p.His688Leu) single nucleotide variant not provided [RCV002967373] Chr16:74626461 [GRCh38]
Chr16:74660359 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.988-20T>C single nucleotide variant not provided [RCV003031877] Chr16:74644473 [GRCh38]
Chr16:74678371 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1754+16C>T single nucleotide variant not provided [RCV003030997] Chr16:74630765 [GRCh38]
Chr16:74664663 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.722-4_722-3delinsTT indel not provided [RCV002628283] Chr16:74649205..74649206 [GRCh38]
Chr16:74683103..74683104 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1791T>G (p.Ala597=) single nucleotide variant not provided [RCV002811292] Chr16:74628630 [GRCh38]
Chr16:74662528 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.792+15A>G single nucleotide variant not provided [RCV002835201] Chr16:74649117 [GRCh38]
Chr16:74683015 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1755-12C>G single nucleotide variant not provided [RCV002938115] Chr16:74628678 [GRCh38]
Chr16:74662576 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.607C>T (p.Pro203Ser) single nucleotide variant not provided [RCV003011526] Chr16:74652034 [GRCh38]
Chr16:74685932 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.127G>T (p.Val43Leu) single nucleotide variant not specified [RCV004147937] Chr16:74661323 [GRCh38]
Chr16:74695221 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1786A>G (p.Arg596Gly) single nucleotide variant not provided [RCV002810429] Chr16:74628635 [GRCh38]
Chr16:74662533 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1970-14T>C single nucleotide variant not provided [RCV002746107] Chr16:74626568 [GRCh38]
Chr16:74660466 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1070G>A (p.Arg357His) single nucleotide variant not provided [RCV002806271]|not specified [RCV004064831] Chr16:74644371 [GRCh38]
Chr16:74678269 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1452T>C (p.Thr484=) single nucleotide variant not provided [RCV002856695] Chr16:74632648 [GRCh38]
Chr16:74666546 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.468T>C (p.Ser156=) single nucleotide variant not provided [RCV002746294] Chr16:74660982 [GRCh38]
Chr16:74694880 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.2129A>G (p.Asn710Ser) single nucleotide variant not provided [RCV002598933] Chr16:74626395 [GRCh38]
Chr16:74660293 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.358A>G (p.Met120Val) single nucleotide variant not provided [RCV002937724] Chr16:74661092 [GRCh38]
Chr16:74694990 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.987+6G>T single nucleotide variant not provided [RCV002806393] Chr16:74644535 [GRCh38]
Chr16:74678433 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.721+20T>G single nucleotide variant not provided [RCV003026506] Chr16:74651900 [GRCh38]
Chr16:74685798 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1426+9T>A single nucleotide variant not provided [RCV003045837] Chr16:74636337 [GRCh38]
Chr16:74670235 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1608T>C (p.Tyr536=) single nucleotide variant not provided [RCV002922897] Chr16:74630927 [GRCh38]
Chr16:74664825 [GRCh37]
Chr16:16q23.1		 benign
NM_018124.4(RFWD3):c.1116C>T (p.Ala372=) single nucleotide variant not provided [RCV002627950] Chr16:74637934 [GRCh38]
Chr16:74671832 [GRCh37]
Chr16:16q23.1		 benign
NM_018124.4(RFWD3):c.727C>G (p.Leu243Val) single nucleotide variant not provided [RCV003027589] Chr16:74649197 [GRCh38]
Chr16:74683095 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.2042T>A (p.Ile681Asn) single nucleotide variant not provided [RCV003062051] Chr16:74626482 [GRCh38]
Chr16:74660380 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1962C>T (p.Tyr654=) single nucleotide variant not provided [RCV002962602] Chr16:74628459 [GRCh38]
Chr16:74662357 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.795A>G (p.Pro265=) single nucleotide variant not provided [RCV003048469] Chr16:74644733 [GRCh38]
Chr16:74678631 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.2319G>A (p.Trp773Ter) single nucleotide variant not provided [RCV002833510] Chr16:74623934 [GRCh38]
Chr16:74657832 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.518+18T>C single nucleotide variant not provided [RCV002895880] Chr16:74660914 [GRCh38]
Chr16:74694812 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.814C>T (p.Pro272Ser) single nucleotide variant not provided [RCV002835184] Chr16:74644714 [GRCh38]
Chr16:74678612 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1924C>G (p.Gln642Glu) single nucleotide variant not provided [RCV003026736] Chr16:74628497 [GRCh38]
Chr16:74662395 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.560C>A (p.Thr187Asn) single nucleotide variant RFWD3-related disorder [RCV003906331]|not provided [RCV002922898]|not specified [RCV004067017] Chr16:74652081 [GRCh38]
Chr16:74685979 [GRCh37]
Chr16:16q23.1		 benign|likely benign|uncertain significance
NM_018124.4(RFWD3):c.1505G>C (p.Gly502Ala) single nucleotide variant not provided [RCV003028852] Chr16:74632595 [GRCh38]
Chr16:74666493 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.731C>T (p.Ala244Val) single nucleotide variant not provided [RCV003044244]|not specified [RCV004070095] Chr16:74649193 [GRCh38]
Chr16:74683091 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1023C>G (p.Val341=) single nucleotide variant not provided [RCV002628675] Chr16:74644418 [GRCh38]
Chr16:74678316 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.492A>C (p.Gly164=) single nucleotide variant not provided [RCV003090638] Chr16:74660958 [GRCh38]
Chr16:74694856 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.546T>G (p.Phe182Leu) single nucleotide variant not provided [RCV003010130] Chr16:74652095 [GRCh38]
Chr16:74685993 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.57A>G (p.Gln19=) single nucleotide variant not provided [RCV002895833] Chr16:74661393 [GRCh38]
Chr16:74695291 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.2281G>A (p.Ala761Thr) single nucleotide variant not provided [RCV003009231] Chr16:74623972 [GRCh38]
Chr16:74657870 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.222G>A (p.Pro74=) single nucleotide variant not provided [RCV002647408] Chr16:74661228 [GRCh38]
Chr16:74695126 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.2063A>G (p.His688Arg) single nucleotide variant not provided [RCV002632767] Chr16:74626461 [GRCh38]
Chr16:74660359 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1801G>C (p.Ala601Pro) single nucleotide variant not provided [RCV003046304] Chr16:74628620 [GRCh38]
Chr16:74662518 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1866G>T (p.Met622Ile) single nucleotide variant not provided [RCV002856296] Chr16:74628555 [GRCh38]
Chr16:74662453 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.2238G>A (p.Val746=) single nucleotide variant not provided [RCV003089892] Chr16:74624015 [GRCh38]
Chr16:74657913 [GRCh37]
Chr16:16q23.1		 benign
NM_018124.4(RFWD3):c.740CAG[1] (p.Ala248del) microsatellite not provided [RCV002943701] Chr16:74649179..74649181 [GRCh38]
Chr16:74683077..74683079 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.376G>A (p.Gly126Arg) single nucleotide variant not provided [RCV003052314] Chr16:74661074 [GRCh38]
Chr16:74694972 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.518+11A>C single nucleotide variant not provided [RCV002814666] Chr16:74660921 [GRCh38]
Chr16:74694819 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1816G>A (p.Gly606Arg) single nucleotide variant not provided [RCV002814976] Chr16:74628605 [GRCh38]
Chr16:74662503 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.384G>A (p.Gln128=) single nucleotide variant not provided [RCV003050384] Chr16:74661066 [GRCh38]
Chr16:74694964 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.2192C>G (p.Ala731Gly) single nucleotide variant not provided [RCV002605896] Chr16:74624061 [GRCh38]
Chr16:74657959 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.871C>G (p.Leu291Val) single nucleotide variant not provided [RCV002605897] Chr16:74644657 [GRCh38]
Chr16:74678555 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1695G>A (p.Leu565=) single nucleotide variant RFWD3-related disorder [RCV003906366]|not provided [RCV002942589] Chr16:74630840 [GRCh38]
Chr16:74664738 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.2299A>G (p.Met767Val) single nucleotide variant RFWD3-related disorder [RCV003973575]|not provided [RCV002943250] Chr16:74623954 [GRCh38]
Chr16:74657852 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.181A>G (p.Ile61Val) single nucleotide variant not provided [RCV002588664]|not specified [RCV004068854] Chr16:74661269 [GRCh38]
Chr16:74695167 [GRCh37]
Chr16:16q23.1		 likely benign|uncertain significance
NM_018124.4(RFWD3):c.1234C>A (p.Gln412Lys) single nucleotide variant not provided [RCV002606406] Chr16:74636538 [GRCh38]
Chr16:74670436 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1427-8T>C single nucleotide variant not provided [RCV002584881] Chr16:74632681 [GRCh38]
Chr16:74666579 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1840G>A (p.Asp614Asn) single nucleotide variant not provided [RCV002582476]|not specified [RCV004068785] Chr16:74628581 [GRCh38]
Chr16:74662479 [GRCh37]
Chr16:16q23.1		 likely benign|uncertain significance
NM_018124.4(RFWD3):c.1855G>C (p.Glu619Gln) single nucleotide variant not provided [RCV002610399] Chr16:74628566 [GRCh38]
Chr16:74662464 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.2158G>T (p.Asp720Tyr) single nucleotide variant not provided [RCV002607880] Chr16:74626366 [GRCh38]
Chr16:74660264 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.51C>T (p.Ala17=) single nucleotide variant not provided [RCV002943927] Chr16:74661399 [GRCh38]
Chr16:74695297 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.883A>G (p.Thr295Ala) single nucleotide variant not provided [RCV002606145] Chr16:74644645 [GRCh38]
Chr16:74678543 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1274C>T (p.Ser425Leu) single nucleotide variant not provided [RCV002588308] Chr16:74636498 [GRCh38]
Chr16:74670396 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.670T>C (p.Tyr224His) single nucleotide variant not provided [RCV003093564] Chr16:74651971 [GRCh38]
Chr16:74685869 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1079+4GGT[3] microsatellite not provided [RCV002588566] Chr16:74644352..74644353 [GRCh38]
Chr16:74678250..74678251 [GRCh37]
Chr16:16q23.1		 benign
NM_018124.4(RFWD3):c.671A>G (p.Tyr224Cys) single nucleotide variant not provided [RCV002611473] Chr16:74651970 [GRCh38]
Chr16:74685868 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.993C>T (p.Asn331=) single nucleotide variant not provided [RCV003051988] Chr16:74644448 [GRCh38]
Chr16:74678346 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1220A>G (p.Gln407Arg) single nucleotide variant not provided [RCV003032086] Chr16:74636552 [GRCh38]
Chr16:74670450 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1701T>C (p.Tyr567=) single nucleotide variant not provided [RCV003073181] Chr16:74630834 [GRCh38]
Chr16:74664732 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.579T>A (p.Ala193=) single nucleotide variant not provided [RCV003032245] Chr16:74652062 [GRCh38]
Chr16:74685960 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.110A>G (p.Gln37Arg) single nucleotide variant not provided [RCV003779731]|not specified [RCV004278372] Chr16:74661340 [GRCh38]
Chr16:74695238 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.119C>T (p.Pro40Leu) single nucleotide variant not specified [RCV004264579] Chr16:74661331 [GRCh38]
Chr16:74695229 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.54A>C (p.Glu18Asp) single nucleotide variant not specified [RCV004286965] Chr16:74661396 [GRCh38]
Chr16:74695294 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1379G>T (p.Ser460Ile) single nucleotide variant not specified [RCV004278017] Chr16:74636393 [GRCh38]
Chr16:74670291 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1352G>T (p.Arg451Leu) single nucleotide variant not specified [RCV004278858] Chr16:74636420 [GRCh38]
Chr16:74670318 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.95G>A (p.Gly32Glu) single nucleotide variant not provided [RCV003549042]|not specified [RCV004300648] Chr16:74661355 [GRCh38]
Chr16:74695253 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.763A>G (p.Ile255Val) single nucleotide variant not provided [RCV003699072]|not specified [RCV004335803] Chr16:74649161 [GRCh38]
Chr16:74683059 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.2100C>G (p.Thr700=) single nucleotide variant not provided [RCV003712698] Chr16:74626424 [GRCh38]
Chr16:74660322 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.2138A>C (p.Asn713Thr) single nucleotide variant not provided [RCV003571230] Chr16:74626386 [GRCh38]
Chr16:74660284 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1123G>C (p.Glu375Gln) single nucleotide variant not provided [RCV003570074] Chr16:74637927 [GRCh38]
Chr16:74671825 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.490G>A (p.Gly164Arg) single nucleotide variant not provided [RCV003874164] Chr16:74660960 [GRCh38]
Chr16:74694858 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1086A>C (p.Leu362=) single nucleotide variant not provided [RCV003570398] Chr16:74637964 [GRCh38]
Chr16:74671862 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.830C>T (p.Ala277Val) single nucleotide variant not provided [RCV003712545] Chr16:74644698 [GRCh38]
Chr16:74678596 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.753dup (p.Val252fs) duplication not provided [RCV003543251] Chr16:74649170..74649171 [GRCh38]
Chr16:74683068..74683069 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.468T>G (p.Ser156=) single nucleotide variant not provided [RCV003570236] Chr16:74660982 [GRCh38]
Chr16:74694880 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.826T>G (p.Ser276Ala) single nucleotide variant not provided [RCV003874101]|not specified [RCV004369610] Chr16:74644702 [GRCh38]
Chr16:74678600 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1162G>C (p.Asp388His) single nucleotide variant not provided [RCV003874694] Chr16:74637888 [GRCh38]
Chr16:74671786 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1429T>C (p.Phe477Leu) single nucleotide variant not provided [RCV003571663] Chr16:74632671 [GRCh38]
Chr16:74666569 [GRCh37]
Chr16:16q23.1		 uncertain significance
GRCh37/hg19 16q22.1-23.2(chr16:70607067-81561138)x3 copy number gain not provided [RCV003485121] Chr16:70607067..81561138 [GRCh37]
Chr16:16q22.1-23.2		 pathogenic
NM_018124.4(RFWD3):c.765C>G (p.Ile255Met) single nucleotide variant not provided [RCV003426838] Chr16:74649159 [GRCh38]
Chr16:74683057 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1375C>T (p.Leu459=) single nucleotide variant not provided [RCV003426837] Chr16:74636397 [GRCh38]
Chr16:74670295 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1222A>T (p.Ser408Cys) single nucleotide variant RFWD3-related disorder [RCV003403069] Chr16:74636550 [GRCh38]
Chr16:74670448 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.765C>T (p.Ile255=) single nucleotide variant not provided [RCV003419452] Chr16:74649159 [GRCh38]
Chr16:74683057 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1008C>T (p.His336=) single nucleotide variant not provided [RCV003419451] Chr16:74644433 [GRCh38]
Chr16:74678331 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.183C>T (p.Ile61=) single nucleotide variant not provided [RCV003426839] Chr16:74661267 [GRCh38]
Chr16:74695165 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.174T>C (p.Ala58=) single nucleotide variant not provided [RCV003579126] Chr16:74661276 [GRCh38]
Chr16:74695174 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1329A>G (p.Thr443=) single nucleotide variant not provided [RCV003713186] Chr16:74636443 [GRCh38]
Chr16:74670341 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.2181+14T>G single nucleotide variant not provided [RCV003573994] Chr16:74626329 [GRCh38]
Chr16:74660227 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.2045G>T (p.Cys682Phe) single nucleotide variant not provided [RCV003695498] Chr16:74626479 [GRCh38]
Chr16:74660377 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.799C>T (p.Pro267Ser) single nucleotide variant not provided [RCV003576443] Chr16:74644729 [GRCh38]
Chr16:74678627 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1554A>G (p.Leu518=) single nucleotide variant not provided [RCV003577443] Chr16:74632546 [GRCh38]
Chr16:74666444 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.2276A>G (p.Tyr759Cys) single nucleotide variant not provided [RCV003713952] Chr16:74623977 [GRCh38]
Chr16:74657875 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.988-14A>T single nucleotide variant not provided [RCV003692959] Chr16:74644467 [GRCh38]
Chr16:74678365 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1746G>A (p.Gln582=) single nucleotide variant not provided [RCV003544311] Chr16:74630789 [GRCh38]
Chr16:74664687 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1426+12A>G single nucleotide variant not provided [RCV003714503] Chr16:74636334 [GRCh38]
Chr16:74670232 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1613C>T (p.Ala538Val) single nucleotide variant not provided [RCV003693959] Chr16:74630922 [GRCh38]
Chr16:74664820 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.819G>C (p.Leu273=) single nucleotide variant not provided [RCV003713144] Chr16:74644709 [GRCh38]
Chr16:74678607 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1959C>T (p.Thr653=) single nucleotide variant not provided [RCV003660586] Chr16:74628462 [GRCh38]
Chr16:74662360 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1710A>G (p.Arg570=) single nucleotide variant not provided [RCV003544422] Chr16:74630825 [GRCh38]
Chr16:74664723 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1457A>C (p.Asn486Thr) single nucleotide variant not provided [RCV003694998] Chr16:74632643 [GRCh38]
Chr16:74666541 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.2083A>G (p.Thr695Ala) single nucleotide variant not provided [RCV003660606] Chr16:74626441 [GRCh38]
Chr16:74660339 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.237C>A (p.Asp79Glu) single nucleotide variant not provided [RCV003694595] Chr16:74661213 [GRCh38]
Chr16:74695111 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.2182-9_2182-8del microsatellite not provided [RCV003571916] Chr16:74624079..74624080 [GRCh38]
Chr16:74657977..74657978 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.95G>C (p.Gly32Ala) single nucleotide variant not provided [RCV003662396] Chr16:74661355 [GRCh38]
Chr16:74695253 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1582G>C (p.Glu528Gln) single nucleotide variant not provided [RCV003572648] Chr16:74630953 [GRCh38]
Chr16:74664851 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.2025T>C (p.Asp675=) single nucleotide variant not provided [RCV003688623] Chr16:74626499 [GRCh38]
Chr16:74660397 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1575C>T (p.Thr525=) single nucleotide variant not provided [RCV003824535] Chr16:74632525 [GRCh38]
Chr16:74666423 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1608del (p.Thr535_Tyr536insTer) deletion not provided [RCV003572085] Chr16:74630927 [GRCh38]
Chr16:74664825 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1616G>T (p.Gly539Val) single nucleotide variant not provided [RCV003663477] Chr16:74630919 [GRCh38]
Chr16:74664817 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1194+4C>T single nucleotide variant not provided [RCV003739667] Chr16:74637852 [GRCh38]
Chr16:74671750 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1546G>A (p.Ala516Thr) single nucleotide variant not provided [RCV003661646] Chr16:74632554 [GRCh38]
Chr16:74666452 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1577+13_1577+73del deletion not provided [RCV003687956] Chr16:74632450..74632510 [GRCh38]
Chr16:74666348..74666408 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1187G>A (p.Arg396His) single nucleotide variant not provided [RCV003714934] Chr16:74637863 [GRCh38]
Chr16:74671761 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.428A>T (p.Asn143Ile) single nucleotide variant not provided [RCV003659820] Chr16:74661022 [GRCh38]
Chr16:74694920 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1605T>G (p.Thr535=) single nucleotide variant not provided [RCV003661944] Chr16:74630930 [GRCh38]
Chr16:74664828 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1593C>T (p.Thr531=) single nucleotide variant not provided [RCV003739216] Chr16:74630942 [GRCh38]
Chr16:74664840 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.2140A>G (p.Ile714Val) single nucleotide variant not provided [RCV003712659] Chr16:74626384 [GRCh38]
Chr16:74660282 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1080-8C>T single nucleotide variant not provided [RCV003663271] Chr16:74637978 [GRCh38]
Chr16:74671876 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.47A>G (p.His16Arg) single nucleotide variant not provided [RCV003662157] Chr16:74661403 [GRCh38]
Chr16:74695301 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.284A>G (p.Asn95Ser) single nucleotide variant not provided [RCV003663301] Chr16:74661166 [GRCh38]
Chr16:74695064 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1079+19C>T single nucleotide variant not provided [RCV003572506] Chr16:74644343 [GRCh38]
Chr16:74678241 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.2167G>C (p.Ala723Pro) single nucleotide variant not provided [RCV003690963] Chr16:74626357 [GRCh38]
Chr16:74660255 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1080-6C>T single nucleotide variant not provided [RCV003575601] Chr16:74637976 [GRCh38]
Chr16:74671874 [GRCh37]
Chr16:16q23.1		 benign
NM_018124.4(RFWD3):c.793-14T>C single nucleotide variant not provided [RCV003716276] Chr16:74644749 [GRCh38]
Chr16:74678647 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.184A>T (p.Ser62Cys) single nucleotide variant not provided [RCV003547934] Chr16:74661266 [GRCh38]
Chr16:74695164 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1207C>A (p.Leu403Ile) single nucleotide variant not provided [RCV003878891] Chr16:74636565 [GRCh38]
Chr16:74670463 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1596G>A (p.Val532=) single nucleotide variant not provided [RCV003663535] Chr16:74630939 [GRCh38]
Chr16:74664837 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1197C>T (p.Asp399=) single nucleotide variant not provided [RCV003692092] Chr16:74636575 [GRCh38]
Chr16:74670473 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1351C>T (p.Arg451Trp) single nucleotide variant not provided [RCV003543857] Chr16:74636421 [GRCh38]
Chr16:74670319 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1482_1483delinsCT (p.Met495Leu) indel not provided [RCV003688796] Chr16:74632617..74632618 [GRCh38]
Chr16:74666515..74666516 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.2170A>C (p.Asn724His) single nucleotide variant not provided [RCV003713221]|not specified [RCV004661736] Chr16:74626354 [GRCh38]
Chr16:74660252 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.111G>C (p.Gln37His) single nucleotide variant not provided [RCV003659675] Chr16:74661339 [GRCh38]
Chr16:74695237 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1586C>G (p.Thr529Arg) single nucleotide variant not provided [RCV003579670] Chr16:74630949 [GRCh38]
Chr16:74664847 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.612A>G (p.Val204=) single nucleotide variant not provided [RCV003665494] Chr16:74652029 [GRCh38]
Chr16:74685927 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.519-4A>T single nucleotide variant not provided [RCV003580766] Chr16:74652126 [GRCh38]
Chr16:74686024 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.453AAG[1] (p.Arg154del) microsatellite not provided [RCV003852535] Chr16:74660992..74660994 [GRCh38]
Chr16:74694890..74694892 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1079+20C>T single nucleotide variant not provided [RCV003698076] Chr16:74644342 [GRCh38]
Chr16:74678240 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.33G>C (p.Gln11His) single nucleotide variant not provided [RCV003665662] Chr16:74661417 [GRCh38]
Chr16:74695315 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.2286C>A (p.Thr762=) single nucleotide variant not provided [RCV003580889] Chr16:74623967 [GRCh38]
Chr16:74657865 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.519-4A>G single nucleotide variant not provided [RCV003833301] Chr16:74652126 [GRCh38]
Chr16:74686024 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.973C>T (p.Arg325Ter) single nucleotide variant not provided [RCV003664206] Chr16:74644555 [GRCh38]
Chr16:74678453 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.156C>T (p.Ile52=) single nucleotide variant not provided [RCV003659371] Chr16:74661294 [GRCh38]
Chr16:74695192 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.763A>T (p.Ile255Phe) single nucleotide variant not provided [RCV003666660] Chr16:74649161 [GRCh38]
Chr16:74683059 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.974G>A (p.Arg325Gln) single nucleotide variant not provided [RCV003672192] Chr16:74644554 [GRCh38]
Chr16:74678452 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.2195C>G (p.Ala732Gly) single nucleotide variant not provided [RCV003703007] Chr16:74624058 [GRCh38]
Chr16:74657956 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1755-7C>T single nucleotide variant not provided [RCV003812038] Chr16:74628673 [GRCh38]
Chr16:74662571 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.225A>G (p.Gln75=) single nucleotide variant not provided [RCV003703069] Chr16:74661225 [GRCh38]
Chr16:74695123 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1834T>C (p.Leu612=) single nucleotide variant not provided [RCV003674315] Chr16:74628587 [GRCh38]
Chr16:74662485 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1762C>A (p.Leu588Met) single nucleotide variant not provided [RCV003698481] Chr16:74628659 [GRCh38]
Chr16:74662557 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1970-7C>T single nucleotide variant not provided [RCV003726468] Chr16:74626561 [GRCh38]
Chr16:74660459 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.522G>T (p.Leu174Phe) single nucleotide variant not provided [RCV003717705] Chr16:74652119 [GRCh38]
Chr16:74686017 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.51C>G (p.Ala17=) single nucleotide variant not provided [RCV003664707] Chr16:74661399 [GRCh38]
Chr16:74695297 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1250C>G (p.Ser417Cys) single nucleotide variant not provided [RCV003670458] Chr16:74636522 [GRCh38]
Chr16:74670420 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.287C>T (p.Pro96Leu) single nucleotide variant not provided [RCV003664790] Chr16:74661163 [GRCh38]
Chr16:74695061 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1969+13G>A single nucleotide variant not provided [RCV003664803] Chr16:74628439 [GRCh38]
Chr16:74662337 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1079+20C>G single nucleotide variant not provided [RCV003699749] Chr16:74644342 [GRCh38]
Chr16:74678240 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1114G>A (p.Ala372Thr) single nucleotide variant not provided [RCV003561772] Chr16:74637936 [GRCh38]
Chr16:74671834 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.2070T>C (p.Phe690=) single nucleotide variant not provided [RCV003673225] Chr16:74626454 [GRCh38]
Chr16:74660352 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1744C>G (p.Gln582Glu) single nucleotide variant not provided [RCV003698026] Chr16:74630791 [GRCh38]
Chr16:74664689 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.2110A>G (p.Ile704Val) single nucleotide variant not provided [RCV003701184] Chr16:74626414 [GRCh38]
Chr16:74660312 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.2017C>T (p.Arg673Ter) single nucleotide variant not provided [RCV003663848] Chr16:74626507 [GRCh38]
Chr16:74660405 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1426+4_1426+5del deletion not provided [RCV003725310] Chr16:74636341..74636342 [GRCh38]
Chr16:74670239..74670240 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.807G>C (p.Lys269Asn) single nucleotide variant not provided [RCV003702873] Chr16:74644721 [GRCh38]
Chr16:74678619 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.879G>A (p.Gln293=) single nucleotide variant not provided [RCV003669529] Chr16:74644649 [GRCh38]
Chr16:74678547 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.636T>C (p.Ser212=) single nucleotide variant not provided [RCV003664042] Chr16:74652005 [GRCh38]
Chr16:74685903 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1983C>G (p.Thr661=) single nucleotide variant not provided [RCV003701342] Chr16:74626541 [GRCh38]
Chr16:74660439 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1578-14T>C single nucleotide variant not provided [RCV003698544] Chr16:74630971 [GRCh38]
Chr16:74664869 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1878T>C (p.His626=) single nucleotide variant not provided [RCV003558987] Chr16:74628543 [GRCh38]
Chr16:74662441 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.604A>C (p.Asn202His) single nucleotide variant not provided [RCV003658929] Chr16:74652037 [GRCh38]
Chr16:74685935 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1241C>T (p.Pro414Leu) single nucleotide variant not provided [RCV003659288] Chr16:74636531 [GRCh38]
Chr16:74670429 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.703G>A (p.Gly235Arg) single nucleotide variant not provided [RCV003702443] Chr16:74651938 [GRCh38]
Chr16:74685836 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1456A>G (p.Asn486Asp) single nucleotide variant not provided [RCV003668080] Chr16:74632644 [GRCh38]
Chr16:74666542 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.208C>T (p.Leu70Phe) single nucleotide variant not provided [RCV003717045] Chr16:74661242 [GRCh38]
Chr16:74695140 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1195-3T>C single nucleotide variant not provided [RCV003559635] Chr16:74636580 [GRCh38]
Chr16:74670478 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1080-6C>G single nucleotide variant RFWD3-related disorder [RCV003909098]|not provided [RCV003724362] Chr16:74637976 [GRCh38]
Chr16:74671874 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1725T>C (p.His575=) single nucleotide variant not provided [RCV003580281] Chr16:74630810 [GRCh38]
Chr16:74664708 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.149C>A (p.Pro50Gln) single nucleotide variant not provided [RCV003664086] Chr16:74661301 [GRCh38]
Chr16:74695199 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.2266C>A (p.Arg756Ser) single nucleotide variant not provided [RCV003672427] Chr16:74623987 [GRCh38]
Chr16:74657885 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.269_270delinsAC (p.Thr90Asn) indel not provided [RCV003698224] Chr16:74661180..74661181 [GRCh38]
Chr16:74695078..74695079 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.2081C>G (p.Pro694Arg) single nucleotide variant not provided [RCV003667791] Chr16:74626443 [GRCh38]
Chr16:74660341 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1592C>A (p.Thr531Asn) single nucleotide variant not provided [RCV003579509] Chr16:74630943 [GRCh38]
Chr16:74664841 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1165A>G (p.Lys389Glu) single nucleotide variant not provided [RCV003672876] Chr16:74637885 [GRCh38]
Chr16:74671783 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1194+18A>T single nucleotide variant not provided [RCV003659449] Chr16:74637838 [GRCh38]
Chr16:74671736 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1223G>A (p.Ser408Asn) single nucleotide variant not provided [RCV003854709] Chr16:74636549 [GRCh38]
Chr16:74670447 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1715C>T (p.Thr572Met) single nucleotide variant not provided [RCV003698541] Chr16:74630820 [GRCh38]
Chr16:74664718 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1522T>C (p.Tyr508His) single nucleotide variant not provided [RCV003563002] Chr16:74632578 [GRCh38]
Chr16:74666476 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1511C>T (p.Ala504Val) single nucleotide variant not provided [RCV003705920] Chr16:74632589 [GRCh38]
Chr16:74666487 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.269C>G (p.Thr90Ser) single nucleotide variant not provided [RCV003712064] Chr16:74661181 [GRCh38]
Chr16:74695079 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1858del (p.Gln620fs) deletion not provided [RCV003678079] Chr16:74628563 [GRCh38]
Chr16:74662461 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.973C>A (p.Arg325=) single nucleotide variant not provided [RCV003542796] Chr16:74644555 [GRCh38]
Chr16:74678453 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.587A>G (p.Tyr196Cys) single nucleotide variant not provided [RCV003707992] Chr16:74652054 [GRCh38]
Chr16:74685952 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1577+4A>T single nucleotide variant not provided [RCV003563793] Chr16:74632519 [GRCh38]
Chr16:74666417 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.2024A>G (p.Asp675Gly) single nucleotide variant not provided [RCV003670837] Chr16:74626500 [GRCh38]
Chr16:74660398 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.68C>T (p.Pro23Leu) single nucleotide variant not provided [RCV003729465] Chr16:74661382 [GRCh38]
Chr16:74695280 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.2055G>C (p.Gln685His) single nucleotide variant not provided [RCV003679351] Chr16:74626469 [GRCh38]
Chr16:74660367 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1194+19A>G single nucleotide variant not provided [RCV003674767] Chr16:74637837 [GRCh38]
Chr16:74671735 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1577+17A>C single nucleotide variant not provided [RCV003712393] Chr16:74632506 [GRCh38]
Chr16:74666404 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1427-15T>C single nucleotide variant not provided [RCV003707201] Chr16:74632688 [GRCh38]
Chr16:74666586 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1459A>G (p.Met487Val) single nucleotide variant not provided [RCV003675489] Chr16:74632641 [GRCh38]
Chr16:74666539 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1399C>T (p.Pro467Ser) single nucleotide variant not provided [RCV003564490] Chr16:74636373 [GRCh38]
Chr16:74670271 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.9T>C (p.His3=) single nucleotide variant not provided [RCV003680531] Chr16:74661441 [GRCh38]
Chr16:74695339 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1352G>A (p.Arg451Gln) single nucleotide variant not provided [RCV003734150] Chr16:74636420 [GRCh38]
Chr16:74670318 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.2322G>A (p.Glu774=) single nucleotide variant not provided [RCV003860201] Chr16:74623931 [GRCh38]
Chr16:74657829 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.863C>T (p.Thr288Ile) single nucleotide variant not provided [RCV003550890] Chr16:74644665 [GRCh38]
Chr16:74678563 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1079+16A>G single nucleotide variant not provided [RCV003706986] Chr16:74644346 [GRCh38]
Chr16:74678244 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.721+11T>C single nucleotide variant not provided [RCV003710151] Chr16:74651909 [GRCh38]
Chr16:74685807 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.375C>T (p.Ser125=) single nucleotide variant not provided [RCV003554120] Chr16:74661075 [GRCh38]
Chr16:74694973 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.286C>G (p.Pro96Ala) single nucleotide variant not provided [RCV003707655] Chr16:74661164 [GRCh38]
Chr16:74695062 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1294C>T (p.His432Tyr) single nucleotide variant not provided [RCV003728111] Chr16:74636478 [GRCh38]
Chr16:74670376 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.2226C>T (p.Thr742=) single nucleotide variant RFWD3-related disorder [RCV004756555]|not provided [RCV003871057] Chr16:74624027 [GRCh38]
Chr16:74657925 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1863A>G (p.Lys621=) single nucleotide variant not provided [RCV003670761] Chr16:74628558 [GRCh38]
Chr16:74662456 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.183C>G (p.Ile61Met) single nucleotide variant not provided [RCV003728388] Chr16:74661267 [GRCh38]
Chr16:74695165 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.3G>A (p.Met1Ile) single nucleotide variant not provided [RCV003708002] Chr16:74661447 [GRCh38]
Chr16:74695345 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.300ACA[1] (p.Gln101del) microsatellite not provided [RCV003710293] Chr16:74661145..74661147 [GRCh38]
Chr16:74695043..74695045 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.744A>C (p.Ala248=) single nucleotide variant not provided [RCV003712142] Chr16:74649180 [GRCh38]
Chr16:74683078 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1357A>G (p.Met453Val) single nucleotide variant not provided [RCV003677525] Chr16:74636415 [GRCh38]
Chr16:74670313 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1949G>A (p.Cys650Tyr) single nucleotide variant not provided [RCV003676252] Chr16:74628472 [GRCh38]
Chr16:74662370 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.622T>C (p.Leu208=) single nucleotide variant not provided [RCV003566984] Chr16:74652019 [GRCh38]
Chr16:74685917 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.576A>G (p.Pro192=) single nucleotide variant not provided [RCV003684356] Chr16:74652065 [GRCh38]
Chr16:74685963 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.123T>C (p.Ala41=) single nucleotide variant RFWD3-related disorder [RCV004756553]|not provided [RCV003869896] Chr16:74661327 [GRCh38]
Chr16:74695225 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1253A>C (p.Gln418Pro) single nucleotide variant not provided [RCV003720405] Chr16:74636519 [GRCh38]
Chr16:74670417 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.2312A>G (p.Tyr771Cys) single nucleotide variant not provided [RCV003711205] Chr16:74623941 [GRCh38]
Chr16:74657839 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.2013C>A (p.Ser671=) single nucleotide variant not provided [RCV003565957] Chr16:74626511 [GRCh38]
Chr16:74660409 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.563A>T (p.Gln188Leu) single nucleotide variant not provided [RCV003729181] Chr16:74652078 [GRCh38]
Chr16:74685976 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.441G>A (p.Gly147=) single nucleotide variant not provided [RCV003722792] Chr16:74661009 [GRCh38]
Chr16:74694907 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.390T>A (p.Leu130=) single nucleotide variant not provided [RCV003721233] Chr16:74661060 [GRCh38]
Chr16:74694958 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.168T>G (p.Ala56=) single nucleotide variant not provided [RCV003721981] Chr16:74661282 [GRCh38]
Chr16:74695180 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1186C>T (p.Arg396Cys) single nucleotide variant not provided [RCV003734075] Chr16:74637864 [GRCh38]
Chr16:74671762 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1832C>G (p.Thr611Ser) single nucleotide variant not provided [RCV003707137] Chr16:74628589 [GRCh38]
Chr16:74662487 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.988-16C>T single nucleotide variant not provided [RCV003710878] Chr16:74644469 [GRCh38]
Chr16:74678367 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1149G>A (p.Leu383=) single nucleotide variant not provided [RCV003705960] Chr16:74637901 [GRCh38]
Chr16:74671799 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1990C>T (p.Arg664Ter) single nucleotide variant not provided [RCV003859241] Chr16:74626534 [GRCh38]
Chr16:74660432 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.519-19T>C single nucleotide variant not provided [RCV003542238] Chr16:74652141 [GRCh38]
Chr16:74686039 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1162G>A (p.Asp388Asn) single nucleotide variant not provided [RCV003682213] Chr16:74637888 [GRCh38]
Chr16:74671786 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1921T>C (p.Phe641Leu) single nucleotide variant not provided [RCV003566987] Chr16:74628500 [GRCh38]
Chr16:74662398 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1117G>A (p.Glu373Lys) single nucleotide variant not provided [RCV003710239] Chr16:74637933 [GRCh38]
Chr16:74671831 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1754+6G>C single nucleotide variant not provided [RCV003679455] Chr16:74630775 [GRCh38]
Chr16:74664673 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1968T>C (p.Pro656=) single nucleotide variant not provided [RCV003682169] Chr16:74628453 [GRCh38]
Chr16:74662351 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.399G>A (p.Met133Ile) single nucleotide variant not provided [RCV003555564] Chr16:74661051 [GRCh38]
Chr16:74694949 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.897C>T (p.Asp299=) single nucleotide variant not provided [RCV003711380] Chr16:74644631 [GRCh38]
Chr16:74678529 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.451A>G (p.Thr151Ala) single nucleotide variant not provided [RCV003732759] Chr16:74660999 [GRCh38]
Chr16:74694897 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.54A>T (p.Glu18Asp) single nucleotide variant not provided [RCV003729440] Chr16:74661396 [GRCh38]
Chr16:74695294 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1316A>G (p.Gln439Arg) single nucleotide variant not provided [RCV003707546] Chr16:74636456 [GRCh38]
Chr16:74670354 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.2244C>T (p.Asp748=) single nucleotide variant not provided [RCV003710598] Chr16:74624009 [GRCh38]
Chr16:74657907 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.2182-13T>A single nucleotide variant not provided [RCV003566305] Chr16:74624084 [GRCh38]
Chr16:74657982 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1578-12G>A single nucleotide variant not provided [RCV003551462] Chr16:74630969 [GRCh38]
Chr16:74664867 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.721+13C>T single nucleotide variant not provided [RCV003677273] Chr16:74651907 [GRCh38]
Chr16:74685805 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.499C>A (p.Gln167Lys) single nucleotide variant not provided [RCV003677308] Chr16:74660951 [GRCh38]
Chr16:74694849 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1970-3T>C single nucleotide variant not provided [RCV003709533] Chr16:74626557 [GRCh38]
Chr16:74660455 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.2204C>G (p.Ser735Trp) single nucleotide variant not provided [RCV003678498] Chr16:74624049 [GRCh38]
Chr16:74657947 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.293C>T (p.Thr98Ile) single nucleotide variant not provided [RCV003709755] Chr16:74661157 [GRCh38]
Chr16:74695055 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1699T>C (p.Tyr567His) single nucleotide variant not provided [RCV003553513] Chr16:74630836 [GRCh38]
Chr16:74664734 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.94G>A (p.Gly32Arg) single nucleotide variant not provided [RCV003678669] Chr16:74661356 [GRCh38]
Chr16:74695254 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.253G>T (p.Val85Phe) single nucleotide variant not provided [RCV003704286] Chr16:74661197 [GRCh38]
Chr16:74695095 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1754+3A>G single nucleotide variant not provided [RCV003710935] Chr16:74630778 [GRCh38]
Chr16:74664676 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.726A>G (p.Gln242=) single nucleotide variant not provided [RCV003679508] Chr16:74649198 [GRCh38]
Chr16:74683096 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1304A>C (p.Lys435Thr) single nucleotide variant not provided [RCV003556851] Chr16:74636468 [GRCh38]
Chr16:74670366 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1427-6T>C single nucleotide variant not provided [RCV003552142] Chr16:74632679 [GRCh38]
Chr16:74666577 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.518+17A>G single nucleotide variant not provided [RCV003708337] Chr16:74660915 [GRCh38]
Chr16:74694813 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1254A>G (p.Gln418=) single nucleotide variant not provided [RCV003886872] Chr16:74636518 [GRCh38]
Chr16:74670416 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1222A>G (p.Ser408Gly) single nucleotide variant not specified [RCV004446341] Chr16:74636550 [GRCh38]
Chr16:74670448 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1742C>G (p.Ala581Gly) single nucleotide variant not specified [RCV004446342] Chr16:74630793 [GRCh38]
Chr16:74664691 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.197C>T (p.Thr66Ile) single nucleotide variant not specified [RCV004446343] Chr16:74661253 [GRCh38]
Chr16:74695151 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.230C>G (p.Ser77Cys) single nucleotide variant not specified [RCV004446345] Chr16:74661220 [GRCh38]
Chr16:74695118 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.397A>G (p.Met133Val) single nucleotide variant not specified [RCV004446347] Chr16:74661053 [GRCh38]
Chr16:74694951 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.794C>T (p.Pro265Leu) single nucleotide variant not specified [RCV004446352] Chr16:74644734 [GRCh38]
Chr16:74678632 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.476G>T (p.Arg159Leu) single nucleotide variant not specified [RCV004446348] Chr16:74660974 [GRCh38]
Chr16:74694872 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.624G>C (p.Leu208Phe) single nucleotide variant not specified [RCV004446350] Chr16:74652017 [GRCh38]
Chr16:74685915 [GRCh37]
Chr16:16q23.1		 uncertain significance
GRCh37/hg19 16q22.3-23.1(chr16:74079694-75352818)x1 copy number loss not specified [RCV003987133] Chr16:74079694..75352818 [GRCh37]
Chr16:16q22.3-23.1		 pathogenic
NM_018124.4(RFWD3):c.268A>G (p.Thr90Ala) single nucleotide variant not specified [RCV004446346] Chr16:74661182 [GRCh38]
Chr16:74695080 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.67C>T (p.Pro23Ser) single nucleotide variant not specified [RCV004446351] Chr16:74661383 [GRCh38]
Chr16:74695281 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.1942C>A (p.Arg648=) single nucleotide variant RFWD3-related disorder [RCV003896492] Chr16:74628479 [GRCh38]
Chr16:74662377 [GRCh37]
Chr16:16q23.1		 likely benign
NM_018124.4(RFWD3):c.902G>A (p.Arg301Gln) single nucleotide variant not specified [RCV004658326] Chr16:74644626 [GRCh38]
Chr16:74678524 [GRCh37]
Chr16:16q23.1		 uncertain significance
NC_000016.9:g.(?_74657826)_(74657989_?)del deletion not provided [RCV004582884] Chr16:74657826..74657989 [GRCh37]
Chr16:16q23.1		 uncertain significance
NC_000016.9:g.(?_74678240)_(74695347_?)del deletion not provided [RCV004582885] Chr16:74678240..74695347 [GRCh37]
Chr16:16q23.1		 uncertain significance
NC_000016.9:g.(?_74485954)_(74808653_?)dup duplication not provided [RCV004582886] Chr16:74485954..74808653 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.769G>A (p.Gly257Arg) single nucleotide variant not specified [RCV004658325] Chr16:74649155 [GRCh38]
Chr16:74683053 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1039C>G (p.Leu347Val) single nucleotide variant not specified [RCV004658327] Chr16:74644402 [GRCh38]
Chr16:74678300 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_018124.4(RFWD3):c.1438A>T (p.Lys480Ter) single nucleotide variant RFWD3-related disorder [RCV004756599] Chr16:74632662 [GRCh38]
Chr16:74666560 [GRCh37]
Chr16:16q23.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2598
Count of miRNA genes:1113
Interacting mature miRNAs:1373
Transcripts:ENST00000361070, ENST00000571750, ENST00000571776, ENST00000572337, ENST00000572610, ENST00000572840, ENST00000572990, ENST00000575113, ENST00000575154, ENST00000575281, ENST00000575397, ENST00000576652
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406933697GWAS582673_Htelomere length QTL GWAS582673 (human)4e-08telomere length167464617674646177Human
407214053GWAS863029_HMyopia QTL GWAS863029 (human)0.000003Myopia167466021874660219Human
406901156GWAS550132_HTesticular Germ Cell Tumor QTL GWAS550132 (human)6e-11Testicular Germ Cell Tumor167463656074636561Human
406991752GWAS640728_Hbody height QTL GWAS640728 (human)4e-08body height (VT:0001253)body height (CMO:0000106)167462453274624533Human
406885578GWAS534554_HTesticular Germ Cell Tumor QTL GWAS534554 (human)7e-12Testicular Germ Cell Tumor167463656074636561Human
407071912GWAS720888_Hmultiple myeloma QTL GWAS720888 (human)5e-12multiple myeloma167463084574630846Human
407361107GWAS1010083_Hcreatinine measurement QTL GWAS1010083 (human)2e-09creatinine measurementblood creatinine measurement (CMO:0000767)167463457574634576Human
407102235GWAS751211_Hmean corpuscular hemoglobin QTL GWAS751211 (human)1e-09mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)167463084574630846Human
407212125GWAS861101_Htelomere length QTL GWAS861101 (human)4e-11telomere length167464617674646177Human
407051482GWAS700458_Htesticular carcinoma QTL GWAS700458 (human)5e-12testicular carcinoma167463656074636561Human
407056154GWAS705130_Htelomere length QTL GWAS705130 (human)0.000007telomere length167466436574664366Human
407112089GWAS761065_Herythrocyte count QTL GWAS761065 (human)8e-08erythrocyte countred blood cell count (CMO:0000025)167466016074660161Human
407207739GWAS856715_Htelomere length QTL GWAS856715 (human)1e-16telomere length167463084574630846Human

Markers in Region
RH103179  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371674,655,358 - 74,655,509UniSTSGRCh37
Build 361673,212,859 - 73,213,010RGDNCBI36
Celera1658,948,279 - 58,948,430RGD
Cytogenetic Map16q23.1UniSTS
HuRef1660,404,974 - 60,405,125UniSTS
GeneMap99-GB4 RH Map16443.39UniSTS
SHGC-78076  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371674,702,405 - 74,702,692UniSTSGRCh37
Build 361673,259,906 - 73,260,193RGDNCBI36
Celera1658,994,993 - 58,995,280RGD
Cytogenetic Map16q23.1UniSTS
HuRef1660,451,985 - 60,452,272UniSTS
SHGC-61385  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371674,657,580 - 74,657,706UniSTSGRCh37
Build 361673,215,081 - 73,215,207RGDNCBI36
Celera1658,950,502 - 58,950,628RGD
Cytogenetic Map16q23.1UniSTS
HuRef1660,407,197 - 60,407,323UniSTS
GeneMap99-GB4 RH Map16443.39UniSTS
Whitehead-RH Map16318.4UniSTS
NCBI RH Map16584.6UniSTS
D16S2631  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371674,660,785 - 74,660,912UniSTSGRCh37
Build 361673,218,286 - 73,218,413RGDNCBI36
Celera1658,953,712 - 58,953,839RGD
Cytogenetic Map16q23.1UniSTS
HuRef1660,410,408 - 60,410,535UniSTS
Whitehead-YAC Contig Map16 UniSTS
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 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001370534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005256022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006721228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC109599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC059371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM467919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP872110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000361070   ⟹   ENSP00000354361
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1674,621,399 - 74,666,877 (-)Ensembl
Ensembl Acc Id: ENST00000571750   ⟹   ENSP00000460049
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1674,623,429 - 74,666,870 (-)Ensembl
Ensembl Acc Id: ENST00000571776
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1674,660,600 - 74,666,869 (-)Ensembl
Ensembl Acc Id: ENST00000572337   ⟹   ENSP00000459465
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1674,644,620 - 74,666,859 (-)Ensembl
Ensembl Acc Id: ENST00000572610
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1674,643,979 - 74,644,637 (-)Ensembl
Ensembl Acc Id: ENST00000572840
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1674,664,335 - 74,666,832 (-)Ensembl
Ensembl Acc Id: ENST00000572990   ⟹   ENSP00000459899
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1674,660,998 - 74,666,874 (-)Ensembl
Ensembl Acc Id: ENST00000575113   ⟹   ENSP00000461285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1674,661,101 - 74,666,537 (-)Ensembl
Ensembl Acc Id: ENST00000575154
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1674,628,508 - 74,632,733 (-)Ensembl
Ensembl Acc Id: ENST00000575281
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1674,637,876 - 74,649,243 (-)Ensembl
Ensembl Acc Id: ENST00000575397
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1674,660,780 - 74,666,832 (-)Ensembl
Ensembl Acc Id: ENST00000576652   ⟹   ENSP00000459515
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1674,661,082 - 74,666,839 (-)Ensembl
RefSeq Acc Id: NM_001370534   ⟹   NP_001357463
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381674,621,399 - 74,666,877 (-)NCBI
T2T-CHM13v2.01680,668,129 - 80,713,619 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001370535   ⟹   NP_001357464
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381674,621,399 - 74,666,877 (-)NCBI
T2T-CHM13v2.01680,668,129 - 80,713,619 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001370536   ⟹   NP_001357465
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381674,621,399 - 74,666,877 (-)NCBI
T2T-CHM13v2.01680,668,129 - 80,713,619 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001370537   ⟹   NP_001357466
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381674,621,399 - 74,666,877 (-)NCBI
T2T-CHM13v2.01680,668,129 - 80,713,619 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001370539   ⟹   NP_001357468
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381674,621,399 - 74,666,877 (-)NCBI
T2T-CHM13v2.01680,668,129 - 80,713,619 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001370540   ⟹   NP_001357469
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381674,621,399 - 74,666,877 (-)NCBI
T2T-CHM13v2.01680,668,129 - 80,713,619 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001370542   ⟹   NP_001357471
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381674,621,399 - 74,666,877 (-)NCBI
T2T-CHM13v2.01680,668,129 - 80,713,619 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001370543   ⟹   NP_001357472
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381674,621,399 - 74,666,877 (-)NCBI
T2T-CHM13v2.01680,668,129 - 80,713,619 (-)NCBI
Sequence:
RefSeq Acc Id: NM_018124   ⟹   NP_060594
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381674,621,399 - 74,666,877 (-)NCBI
GRCh371674,655,297 - 74,700,779 (-)RGD
GRCh371674,655,297 - 74,700,779 (-)NCBI
Build 361673,212,798 - 73,258,280 (-)NCBI Archive
Celera1658,948,218 - 58,993,367 (-)RGD
HuRef1660,404,913 - 60,450,359 (-)RGD
CHM1_11676,067,246 - 76,112,724 (-)NCBI
T2T-CHM13v2.01680,668,129 - 80,713,619 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005256022   ⟹   XP_005256079
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381674,621,399 - 74,664,500 (-)NCBI
GRCh371674,655,297 - 74,700,779 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006721228   ⟹   XP_006721291
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381674,621,399 - 74,666,877 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011523191   ⟹   XP_011521493
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381674,621,399 - 74,666,877 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017023391   ⟹   XP_016878880
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381674,621,399 - 74,666,877 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047434323   ⟹   XP_047290279
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381674,621,399 - 74,666,877 (-)NCBI
RefSeq Acc Id: XM_047434324   ⟹   XP_047290280
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381674,621,399 - 74,661,451 (-)NCBI
RefSeq Acc Id: XM_054380642   ⟹   XP_054236617
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01680,668,129 - 80,713,619 (-)NCBI
RefSeq Acc Id: XM_054380643   ⟹   XP_054236618
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01680,668,129 - 80,713,619 (-)NCBI
RefSeq Acc Id: XM_054380644   ⟹   XP_054236619
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01680,668,129 - 80,713,619 (-)NCBI
RefSeq Acc Id: XM_054380645   ⟹   XP_054236620
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01680,668,129 - 80,711,247 (-)NCBI
RefSeq Acc Id: XM_054380646   ⟹   XP_054236621
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01680,668,129 - 80,713,614 (-)NCBI
RefSeq Acc Id: XM_054380647   ⟹   XP_054236622
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01680,668,129 - 80,708,198 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001357463 (Get FASTA)   NCBI Sequence Viewer  
  NP_001357464 (Get FASTA)   NCBI Sequence Viewer  
  NP_001357465 (Get FASTA)   NCBI Sequence Viewer  
  NP_001357466 (Get FASTA)   NCBI Sequence Viewer  
  NP_001357468 (Get FASTA)   NCBI Sequence Viewer  
  NP_001357469 (Get FASTA)   NCBI Sequence Viewer  
  NP_001357471 (Get FASTA)   NCBI Sequence Viewer  
  NP_001357472 (Get FASTA)   NCBI Sequence Viewer  
  NP_060594 (Get FASTA)   NCBI Sequence Viewer  
  XP_005256079 (Get FASTA)   NCBI Sequence Viewer  
  XP_006721291 (Get FASTA)   NCBI Sequence Viewer  
  XP_011521493 (Get FASTA)   NCBI Sequence Viewer  
  XP_016878880 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290279 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290280 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236617 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236618 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236619 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236620 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236621 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236622 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH02574 (Get FASTA)   NCBI Sequence Viewer  
  AAH59371 (Get FASTA)   NCBI Sequence Viewer  
  BAA91662 (Get FASTA)   NCBI Sequence Viewer  
  BAB14169 (Get FASTA)   NCBI Sequence Viewer  
  BAF83889 (Get FASTA)   NCBI Sequence Viewer  
  BAG38132 (Get FASTA)   NCBI Sequence Viewer  
  BAG59315 (Get FASTA)   NCBI Sequence Viewer  
  EAW95680 (Get FASTA)   NCBI Sequence Viewer  
  EAW95681 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000354361
  ENSP00000354361.4
  ENSP00000459465.1
  ENSP00000459515.1
  ENSP00000459899.1
  ENSP00000460049
  ENSP00000460049.1
  ENSP00000461285.1
GenBank Protein Q6PCD5 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_060594   ⟸   NM_018124
- Peptide Label: isoform 1
- UniProtKB: Q9H9Q3 (UniProtKB/Swiss-Prot),   Q5XKR3 (UniProtKB/Swiss-Prot),   D3DUJ8 (UniProtKB/Swiss-Prot),   B2RE35 (UniProtKB/Swiss-Prot),   A8K585 (UniProtKB/Swiss-Prot),   Q9NVT4 (UniProtKB/Swiss-Prot),   Q6PCD5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005256079   ⟸   XM_005256022
- Peptide Label: isoform X1
- UniProtKB: Q9H9Q3 (UniProtKB/Swiss-Prot),   Q5XKR3 (UniProtKB/Swiss-Prot),   D3DUJ8 (UniProtKB/Swiss-Prot),   B2RE35 (UniProtKB/Swiss-Prot),   A8K585 (UniProtKB/Swiss-Prot),   Q9NVT4 (UniProtKB/Swiss-Prot),   Q6PCD5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006721291   ⟸   XM_006721228
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011521493   ⟸   XM_011523191
- Peptide Label: isoform X1
- UniProtKB: Q9H9Q3 (UniProtKB/Swiss-Prot),   Q5XKR3 (UniProtKB/Swiss-Prot),   D3DUJ8 (UniProtKB/Swiss-Prot),   B2RE35 (UniProtKB/Swiss-Prot),   A8K585 (UniProtKB/Swiss-Prot),   Q9NVT4 (UniProtKB/Swiss-Prot),   Q6PCD5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016878880   ⟸   XM_017023391
- Peptide Label: isoform X1
- UniProtKB: Q9H9Q3 (UniProtKB/Swiss-Prot),   Q5XKR3 (UniProtKB/Swiss-Prot),   D3DUJ8 (UniProtKB/Swiss-Prot),   B2RE35 (UniProtKB/Swiss-Prot),   A8K585 (UniProtKB/Swiss-Prot),   Q9NVT4 (UniProtKB/Swiss-Prot),   Q6PCD5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001357463   ⟸   NM_001370534
- Peptide Label: isoform 1
- UniProtKB: Q9H9Q3 (UniProtKB/Swiss-Prot),   Q6PCD5 (UniProtKB/Swiss-Prot),   Q5XKR3 (UniProtKB/Swiss-Prot),   D3DUJ8 (UniProtKB/Swiss-Prot),   B2RE35 (UniProtKB/Swiss-Prot),   A8K585 (UniProtKB/Swiss-Prot),   Q9NVT4 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001357468   ⟸   NM_001370539
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001357465   ⟸   NM_001370536
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001357466   ⟸   NM_001370537
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001357472   ⟸   NM_001370543
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001357471   ⟸   NM_001370542
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001357464   ⟸   NM_001370535
- Peptide Label: isoform 1
- UniProtKB: Q9H9Q3 (UniProtKB/Swiss-Prot),   Q6PCD5 (UniProtKB/Swiss-Prot),   Q5XKR3 (UniProtKB/Swiss-Prot),   D3DUJ8 (UniProtKB/Swiss-Prot),   B2RE35 (UniProtKB/Swiss-Prot),   A8K585 (UniProtKB/Swiss-Prot),   Q9NVT4 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001357469   ⟸   NM_001370540
- Peptide Label: isoform 3
Ensembl Acc Id: ENSP00000460049   ⟸   ENST00000571750
Ensembl Acc Id: ENSP00000354361   ⟸   ENST00000361070
Ensembl Acc Id: ENSP00000459465   ⟸   ENST00000572337
Ensembl Acc Id: ENSP00000459899   ⟸   ENST00000572990
Ensembl Acc Id: ENSP00000461285   ⟸   ENST00000575113
Ensembl Acc Id: ENSP00000459515   ⟸   ENST00000576652
RefSeq Acc Id: XP_047290279   ⟸   XM_047434323
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047290280   ⟸   XM_047434324
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054236619   ⟸   XM_054380644
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054236617   ⟸   XM_054380642
- Peptide Label: isoform X1
- UniProtKB: Q9H9Q3 (UniProtKB/Swiss-Prot),   Q6PCD5 (UniProtKB/Swiss-Prot),   Q5XKR3 (UniProtKB/Swiss-Prot),   D3DUJ8 (UniProtKB/Swiss-Prot),   B2RE35 (UniProtKB/Swiss-Prot),   A8K585 (UniProtKB/Swiss-Prot),   Q9NVT4 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054236618   ⟸   XM_054380643
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054236621   ⟸   XM_054380646
- Peptide Label: isoform X1
- UniProtKB: Q9H9Q3 (UniProtKB/Swiss-Prot),   Q6PCD5 (UniProtKB/Swiss-Prot),   Q5XKR3 (UniProtKB/Swiss-Prot),   D3DUJ8 (UniProtKB/Swiss-Prot),   B2RE35 (UniProtKB/Swiss-Prot),   A8K585 (UniProtKB/Swiss-Prot),   Q9NVT4 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054236620   ⟸   XM_054380645
- Peptide Label: isoform X1
- UniProtKB: Q9H9Q3 (UniProtKB/Swiss-Prot),   Q6PCD5 (UniProtKB/Swiss-Prot),   Q5XKR3 (UniProtKB/Swiss-Prot),   D3DUJ8 (UniProtKB/Swiss-Prot),   B2RE35 (UniProtKB/Swiss-Prot),   A8K585 (UniProtKB/Swiss-Prot),   Q9NVT4 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054236622   ⟸   XM_054380647
- Peptide Label: isoform X3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6PCD5-F1-model_v2 AlphaFold Q6PCD5 1-774 view protein structure

Promoters
RGD ID:6793416
Promoter ID:HG_KWN:24253
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_018124,   UC010CGQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361673,258,196 - 73,259,007 (-)MPROMDB
RGD ID:7232827
Promoter ID:EPDNEW_H22158
Type:initiation region
Name:RFWD3_1
Description:ring finger and WD repeat domain 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381674,666,859 - 74,666,919EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25539 AgrOrtholog
COSMIC RFWD3 COSMIC
Ensembl Genes ENSG00000168411 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000361070 ENTREZGENE
  ENST00000361070.9 UniProtKB/Swiss-Prot
  ENST00000571750 ENTREZGENE
  ENST00000571750.5 UniProtKB/Swiss-Prot
  ENST00000572337.5 UniProtKB/TrEMBL
  ENST00000572990.5 UniProtKB/TrEMBL
  ENST00000575113.1 UniProtKB/TrEMBL
  ENST00000576652.1 UniProtKB/TrEMBL
Gene3D-CATH 2.130.10.10 UniProtKB/Swiss-Prot
  3.30.40.10 UniProtKB/Swiss-Prot
GTEx ENSG00000168411 GTEx
HGNC ID HGNC:25539 ENTREZGENE
Human Proteome Map RFWD3 Human Proteome Map
InterPro RFWD3 UniProtKB/Swiss-Prot
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot
  WD40_repeat UniProtKB/Swiss-Prot
  WD40_repeat_dom_sf UniProtKB/Swiss-Prot
  Znf_RING UniProtKB/Swiss-Prot
  Znf_RING/FYVE/PHD UniProtKB/Swiss-Prot
KEGG Report hsa:55159 UniProtKB/Swiss-Prot
NCBI Gene 55159 ENTREZGENE
OMIM 614151 OMIM
PANTHER E3 UBIQUITIN-PROTEIN LIGASE RFWD3 UniProtKB/Swiss-Prot
  PTHR16047 UniProtKB/Swiss-Prot
Pfam zf-RING_2 UniProtKB/Swiss-Prot
PharmGKB PA134960063 PharmGKB
PROSITE ZF_RING_2 UniProtKB/Swiss-Prot
SMART RING UniProtKB/Swiss-Prot
  WD40 UniProtKB/Swiss-Prot
Superfamily-SCOP RING/U-box UniProtKB/Swiss-Prot
  SSF50978 UniProtKB/Swiss-Prot
UniProt A8K585 ENTREZGENE
  B2RE35 ENTREZGENE
  D3DUJ8 ENTREZGENE
  I3L284_HUMAN UniProtKB/TrEMBL
  I3L299_HUMAN UniProtKB/TrEMBL
  I3L2T2_HUMAN UniProtKB/TrEMBL
  I3L4I5_HUMAN UniProtKB/TrEMBL
  Q5XKR3 ENTREZGENE
  Q6PCD5 ENTREZGENE
  Q9H9Q3 ENTREZGENE
  Q9NVT4 ENTREZGENE
  RFWD3_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A8K585 UniProtKB/Swiss-Prot
  B2RE35 UniProtKB/Swiss-Prot
  D3DUJ8 UniProtKB/Swiss-Prot
  Q5XKR3 UniProtKB/Swiss-Prot
  Q9H9Q3 UniProtKB/Swiss-Prot
  Q9NVT4 UniProtKB/Swiss-Prot