GDF10 (growth differentiation factor 10) - Rat Genome Database

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Gene: GDF10 (growth differentiation factor 10) Homo sapiens
Analyze
Symbol: GDF10
Name: growth differentiation factor 10
RGD ID: 1342570
HGNC Page HGNC:4215
Description: Predicted to enable cytokine activity. Predicted to be involved in positive regulation of osteoblast differentiation. Located in collagen-containing extracellular matrix.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BIP; BMP-3b; BMP3B; bone morphogenetic protein 3B; bone-inducing protein; GDF-10; growth/differentiation factor 10
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381047,300,197 - 47,313,577 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1047,300,197 - 47,313,577 (+)EnsemblGRCh38hg38GRCh38
GRCh371048,425,785 - 48,439,165 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361048,045,795 - 48,059,172 (-)NCBINCBI36Build 36hg18NCBI36
Build 341048,045,794 - 48,059,172NCBI
Celera1044,850,007 - 44,863,384 (-)NCBICelera
Cytogenetic Map10q11.22NCBI
HuRef1043,178,553 - 43,191,903 (-)NCBIHuRef
CHM1_11048,590,851 - 48,604,204 (-)NCBICHM1_1
T2T-CHM13v2.01048,191,293 - 48,204,673 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
all-trans-retinoic acid  (EXP,ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
astemizole  (ISO)
benzo[a]pyrene  (EXP,ISO)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
caffeine  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
clofibrate  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
dexamethasone  (EXP)
dibutyl phthalate  (ISO)
diethylstilbestrol  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
entinostat  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
fenvalerate  (ISO)
folic acid  (ISO)
genistein  (EXP,ISO)
glycerol 2-phosphate  (ISO)
inulin  (ISO)
L-ascorbic acid  (ISO)
L-methionine  (ISO)
levonorgestrel  (EXP)
lipopolysaccharide  (ISO)
medroxyprogesterone acetate  (EXP)
methimazole  (ISO)
methotrexate  (ISO)
methoxyacetic acid  (ISO)
methylmercury chloride  (ISO)
Monobutylphthalate  (ISO)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
oxaliplatin  (ISO)
panobinostat  (EXP)
paracetamol  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
phorbol 13-acetate 12-myristate  (EXP)
pirinixic acid  (ISO)
resveratrol  (EXP)
SB 431542  (EXP)
sodium arsenite  (ISO)
Soman  (ISO)
sulfadimethoxine  (ISO)
tamoxifen  (ISO)
testosterone undecanoate  (EXP)
tetrachloromethane  (ISO)
tetraphene  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
trimellitic anhydride  (ISO)
troglitazone  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
XL147  (ISO)
zaragozic acid A  (ISO)
zearalenone  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Assessment of gene expression profiles in peripheral occlusive arterial disease. Bubenek S, etal., Can J Cardiol. 2012 Nov-Dec;28(6):712-20. doi: 10.1016/j.cjca.2012.03.013. Epub 2012 Jun 19.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8670277   PMID:8679252   PMID:8889548   PMID:10844590   PMID:12477932   PMID:15174051   PMID:16344560   PMID:16385451   PMID:18077449   PMID:18949431   PMID:19490893   PMID:20237496  
PMID:20734064   PMID:21873635   PMID:25728212   PMID:26502261   PMID:27068509   PMID:28514442   PMID:31147529   PMID:33170806   PMID:33657265   PMID:33961781   PMID:34922336   PMID:35163719  
PMID:38245533  


Genomics

Comparative Map Data
GDF10
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381047,300,197 - 47,313,577 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1047,300,197 - 47,313,577 (+)EnsemblGRCh38hg38GRCh38
GRCh371048,425,785 - 48,439,165 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361048,045,795 - 48,059,172 (-)NCBINCBI36Build 36hg18NCBI36
Build 341048,045,794 - 48,059,172NCBI
Celera1044,850,007 - 44,863,384 (-)NCBICelera
Cytogenetic Map10q11.22NCBI
HuRef1043,178,553 - 43,191,903 (-)NCBIHuRef
CHM1_11048,590,851 - 48,604,204 (-)NCBICHM1_1
T2T-CHM13v2.01048,191,293 - 48,204,673 (+)NCBIT2T-CHM13v2.0
Gdf10
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391433,645,544 - 33,658,471 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1433,645,544 - 33,659,940 (+)EnsemblGRCm39 Ensembl
GRCm381433,923,587 - 33,936,514 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1433,923,587 - 33,937,983 (+)EnsemblGRCm38mm10GRCm38
MGSCv371434,736,773 - 34,748,471 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361432,752,679 - 32,764,377 (+)NCBIMGSCv36mm8
Celera1430,189,682 - 30,201,380 (+)NCBICelera
Cytogenetic Map14BNCBI
cM Map1420.8NCBI
Gdf10
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8169,243,434 - 9,256,788 (+)NCBIGRCr8
mRatBN7.2169,237,182 - 9,250,537 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl169,237,261 - 9,249,343 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx169,256,689 - 9,268,770 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01610,401,395 - 10,413,477 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0169,251,785 - 9,263,853 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01610,250,508 - 10,262,383 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1610,250,404 - 10,263,150 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0168,571,370 - 8,583,245 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4169,558,781 - 9,570,656 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1169,558,727 - 9,570,654 (+)NCBI
Celera165,961,266 - 5,973,147 (-)NCBICelera
Cytogenetic Map16p16NCBI
Gdf10
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555562,185,121 - 2,196,502 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555562,185,121 - 2,195,150 (+)NCBIChiLan1.0ChiLan1.0
GDF10
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2859,997,778 - 60,011,111 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11060,003,095 - 60,016,428 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01046,498,600 - 46,511,933 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
GDF10
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1435,008,204 - 35,017,476 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl435,008,983 - 35,018,166 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha434,972,559 - 34,981,749 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0435,368,659 - 35,377,901 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl435,368,660 - 35,378,771 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1435,200,361 - 35,209,442 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0435,381,596 - 35,390,831 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0435,889,219 - 35,898,460 (-)NCBIUU_Cfam_GSD_1.0
Gdf10
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721381,283,121 - 81,297,318 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365547,292,767 - 7,307,009 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365547,292,805 - 7,307,001 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GDF10
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1488,522,948 - 88,534,709 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11488,522,956 - 88,534,719 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21496,148,673 - 96,160,426 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GDF10
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1944,066,979 - 44,080,319 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl944,067,469 - 44,079,522 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660483,837,123 - 3,850,490 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in GDF10
26 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 10q11.22-11.23(chr10:45710242-50151325)x1 copy number loss See cases [RCV000052312] Chr10:45710242..50151325 [GRCh38]
Chr10:46205690..51911085 [GRCh37]
Chr10:45525696..51581091 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052314]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052314]|See cases [RCV000052314] Chr10:45931517..49929364 [GRCh38]
Chr10:47006954..51636253 [GRCh37]
Chr10:46404919..51306259 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic
GRCh38/hg38 10q11.21-21.2(chr10:42335305-60284876)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052506]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052506]|See cases [RCV000052506] Chr10:42335305..60284876 [GRCh38]
Chr10:42830753..62044634 [GRCh37]
Chr10:42150759..61714640 [NCBI36]
Chr10:10q11.21-21.2		 pathogenic
NC_000010.11:g.45704708_(49974954_50015268)del deletion 10q11.22q11.23 deletion syndrome [RCV003221322] Chr10:45704708..49974954 [GRCh38]
Chr10:10q11.22-11.23		 likely pathogenic
NM_004962.5(GDF10):c.1217C>T (p.Ala406Val) single nucleotide variant Malignant tumor of prostate [RCV000149163] Chr10:47310693 [GRCh38]
Chr10:48428669 [GRCh37]
Chr10:10q11.22		 uncertain significance
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000133836] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47531169 [GRCh37]
Chr10:46404919..47061001 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x1 copy number loss See cases [RCV000050303] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47531169 [GRCh37]
Chr10:46404919..47017657 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000133669] Chr10:46157935..47923579 [GRCh38]
Chr10:46404919..47735531 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.21-21.1(chr10:42884294-52265317)x3 copy number gain See cases [RCV000134381] Chr10:42884294..52265317 [GRCh38]
Chr10:43379742..54025077 [GRCh37]
Chr10:42699748..53695083 [NCBI36]
Chr10:10q11.21-21.1		 pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1 copy number loss See cases [RCV000134388] Chr10:45931517..49929364 [GRCh38]
Chr10:46491169..51594991 [GRCh37]
Chr10:45911175..51264997 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic
GRCh38/hg38 10q11.22(chr10:46490281-48074662)x1 copy number loss See cases [RCV000133963] Chr10:46490281..48074662 [GRCh38]
Chr10:46550803..47410453 [GRCh37]
Chr10:45970809..46830459 [NCBI36]
Chr10:10q11.22		 likely benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000134855] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47768540 [GRCh37]
Chr10:46404919..47238546 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46489780-47923579)x3 copy number gain See cases [RCV000134791] Chr10:46489780..47923579 [GRCh38]
Chr10:47006954..47323674 [GRCh37]
Chr10:46371235..46830487 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000134826] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47531169 [GRCh37]
Chr10:46371235..47125064 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46489780-47923579)x3 copy number gain See cases [RCV000134840] Chr10:46489780..47923579 [GRCh38]
Chr10:47006954..47323674 [GRCh37]
Chr10:46404919..46830487 [NCBI36]
Chr10:10q11.22		 benign|likely benign|conflicting data from submitters
GRCh38/hg38 10q11.22(chr10:46490281-47923579)x1 copy number loss See cases [RCV000134841] Chr10:46490281..47923579 [GRCh38]
Chr10:46984913..47410481 [GRCh37]
Chr10:46404919..46830487 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.21-11.23(chr10:42395201-50877059)x3 copy number gain See cases [RCV000134846] Chr10:42395201..50877059 [GRCh38]
Chr10:42890649..52636819 [GRCh37]
Chr10:42210655..52306825 [NCBI36]
Chr10:10q11.21-11.23		 pathogenic
GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3 copy number gain See cases [RCV000134848] Chr10:42685306..73715908 [GRCh38]
Chr10:43180754..75475666 [GRCh37]
Chr10:42500760..75145672 [NCBI36]
Chr10:10q11.21-22.2		 pathogenic
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000136435] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47702558 [GRCh37]
Chr10:46371268..47172564 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22-11.23(chr10:45710248-50021141)x1 copy number loss See cases [RCV000136021] Chr10:45710248..50021141 [GRCh38]
Chr10:46205696..51724915 [GRCh37]
Chr10:45525702..51450907 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000135951] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47531169 [GRCh37]
Chr10:46404808..47125152 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000136044] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47531169 [GRCh37]
Chr10:46404919..47060985 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x1 copy number loss See cases [RCV000136045] Chr10:46157935..47923579 [GRCh38]
Chr10:46984913..47590979 [GRCh37]
Chr10:46404919..47060985 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46146977-47987500)x3 copy number gain See cases [RCV000136063] Chr10:46146977..47987500 [GRCh38]
Chr10:45970793..47744290 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46157935-48054380)x3 copy number gain See cases [RCV000137185] Chr10:46157935..48054380 [GRCh38]
Chr10:46609948..49262406 [GRCh37]
Chr10:46029954..48932412 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000137211] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47768522 [GRCh37]
Chr10:46369261..47238528 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46490281-47923579)x3 copy number gain See cases [RCV000137212] Chr10:46490281..47923579 [GRCh38]
Chr10:46949255..47410453 [GRCh37]
Chr10:46369261..46830459 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46489780-47923579)x1 copy number loss See cases [RCV000137215] Chr10:46489780..47923579 [GRCh38]
Chr10:47006954..47323674 [GRCh37]
Chr10:46369261..46830459 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22-11.23(chr10:45810008-50066466)x1 copy number loss See cases [RCV000137750] Chr10:45810008..50066466 [GRCh38]
Chr10:46476965..51724915 [GRCh37]
Chr10:45625462..51496232 [NCBI36]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000138840] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47768540 [GRCh37]
Chr10:46371235..47238546 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000139320] Chr10:46157935..47923579 [GRCh38]
Chr10:47074860..47531169 [GRCh37]
Chr10:46494866..47060985 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1 copy number loss See cases [RCV000139346] Chr10:45999930..49937908 [GRCh38]
Chr10:49002272..52458983 [GRCh37]
Chr10:48357728..52128989 [NCBI36]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000138910] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47531169 [GRCh37]
Chr10:46371235..47060985 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000139094] Chr10:46157935..47923579 [GRCh38]
Chr10:47074860..47531169 [GRCh37]
Chr10:46494866..47125064 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1 copy number loss See cases [RCV000139018] Chr10:45931517..49929364 [GRCh38]
Chr10:46491169..51664079 [GRCh37]
Chr10:45911175..51334085 [NCBI36]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1 copy number loss See cases [RCV000138899] Chr10:45931517..49929364 [GRCh38]
Chr10:49002272..51330432 [GRCh37]
Chr10:48395600..51032216 [NCBI36]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000139485] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47531169 [GRCh37]
Chr10:46404919..47125064 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000139516] Chr10:46157935..47923579 [GRCh38]
Chr10:46029938..47744290 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46146977-47987500)x3 copy number gain See cases [RCV000139473] Chr10:46146977..47987500 [GRCh38]
Chr10:46550787..47929856 [GRCh37]
Chr10:45970793..47449862 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22-11.23(chr10:45788078-50066466)x1 copy number loss See cases [RCV000140650] Chr10:45788078..50066466 [GRCh38]
Chr10:46476965..51724915 [GRCh37]
Chr10:45603532..51496232 [NCBI36]
Chr10:10q11.22-11.23		 uncertain significance
GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3 copy number gain See cases [RCV000141497] Chr10:4604734..48074662 [GRCh38]
Chr10:4646926..47531169 [GRCh37]
Chr10:4636926..47125152 [NCBI36]
Chr10:10p15.1-q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46375049-47987500)x3 copy number gain See cases [RCV000141529] Chr10:46375049..47987500 [GRCh38]
Chr10:46949255..48364954 [GRCh37]
Chr10:46369261..47984960 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22-11.23(chr10:45931517-50035809)x3 copy number gain See cases [RCV000142314] Chr10:45931517..50035809 [GRCh38]
Chr10:46966533..51795569 [GRCh37]
Chr10:46386539..51465575 [NCBI36]
Chr10:10q11.22-11.23		 uncertain significance
GRCh38/hg38 10q11.22(chr10:46490281-47923579)x3 copy number gain See cases [RCV000142486] Chr10:46490281..47923579 [GRCh38]
Chr10:46609932..47410481 [GRCh37]
Chr10:46029938..46830487 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46490281-47923579)x1 copy number loss See cases [RCV000142487] Chr10:46490281..47923579 [GRCh38]
Chr10:46951229..47410481 [GRCh37]
Chr10:46371235..46830487 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46375049-47987500)x3 copy number gain See cases [RCV000142497] Chr10:46375049..47987500 [GRCh38]
Chr10:46371235..47744290 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46375049-47987500)x3 copy number gain See cases [RCV000143045] Chr10:46375049..47987500 [GRCh38]
Chr10:47006954..47929856 [GRCh37]
Chr10:46371235..47449862 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x1 copy number loss See cases [RCV000142911] Chr10:46157935..47923579 [GRCh38]
Chr10:46951229..47768540 [GRCh37]
Chr10:46371235..47238546 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3 copy number gain See cases [RCV000142967] Chr10:42112187..67400675 [GRCh38]
Chr10:42607635..69160433 [GRCh37]
Chr10:41927641..68830439 [NCBI36]
Chr10:10q11.21-21.3		 pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45686812-50151325)x3 copy number gain See cases [RCV000142981] Chr10:45686812..50151325 [GRCh38]
Chr10:46182260..51911085 [GRCh37]
Chr10:45502266..51581091 [NCBI36]
Chr10:10q11.22-11.23		 likely benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000142931] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47531169 [GRCh37]
Chr10:46404919..47018978 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22-11.23(chr10:45710242-49929364)x1 copy number loss See cases [RCV000142776] Chr10:45710242..49929364 [GRCh38]
Chr10:46205690..51330432 [GRCh37]
Chr10:45525696..51265056 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic
GRCh38/hg38 10q11.22(chr10:46375049-47987500)x1 copy number loss See cases [RCV000148274] Chr10:46375049..47987500 [GRCh38]
Chr10:46404919..47735531 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000148258] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47531169 [GRCh37]
Chr10:46404919..47017657 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000148209] Chr10:46157935..47923579 [GRCh38]
Chr10:47033385..47531169 [GRCh37]
Chr10:46453391..47125152 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000148240] Chr10:46157935..47923579 [GRCh38]
Chr10:47074802..47531169 [GRCh37]
Chr10:46494808..47125152 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000148181] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47531169 [GRCh37]
Chr10:46404919..47125152 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x1 copy number loss See cases [RCV000148189] Chr10:46157935..47923579 [GRCh38]
Chr10:46404919..47125152 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000050252] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47531169 [GRCh37]
Chr10:46404919..47125152 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x1 copy number loss See cases [RCV000050260] Chr10:46157935..47923579 [GRCh38]
Chr10:46984913..47655146 [GRCh37]
Chr10:46404919..47125152 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000050741] Chr10:46157935..47923579 [GRCh38]
Chr10:47074802..47531169 [GRCh37]
Chr10:46494808..47125152 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x3 copy number gain See cases [RCV000051111] Chr10:45999930..49937908 [GRCh38]
Chr10:49201519..52415071 [GRCh37]
Chr10:48871525..52085077 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000050288] Chr10:46157935..47923579 [GRCh38]
Chr10:47033385..47531169 [GRCh37]
Chr10:46453391..47125152 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000050301] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47531169 [GRCh37]
Chr10:46404919..47017657 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46375049-47987500)x1 copy number loss See cases [RCV000050321] Chr10:46375049..47987500 [GRCh38]
Chr10:46404919..47735531 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1 copy number loss See cases [RCV000052317] Chr10:45999930..49937908 [GRCh38]
Chr10:49390075..52518989 [GRCh37]
Chr10:49060081..52188995 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic|uncertain significance
GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052319]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052319]|See cases [RCV000052319] Chr10:45999930..49937908 [GRCh38]
Chr10:49430980..52415071 [GRCh37]
Chr10:49100986..52085077 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45931517-50655311)x1 copy number loss See cases [RCV000052320] Chr10:45931517..50655311 [GRCh38]
Chr10:49430980..52415071 [GRCh37]
Chr10:49100986..52085077 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46491169-51081560)x1 copy number loss See cases [RCV000240024] Chr10:46491169..51081560 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46242057-51595050)x3 copy number gain See cases [RCV000240599] Chr10:46242057..51595050 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46224446-51594991)x1 copy number loss See cases [RCV000449125] Chr10:46224446..51594991 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46210750-51753095)x3 copy number gain See cases [RCV000447295] Chr10:46210750..51753095 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.22(chr10:46321377-49376720)x3 copy number gain See cases [RCV000447498] Chr10:46321377..49376720 [GRCh37]
Chr10:10q11.22		 likely benign
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51822386)x1 copy number loss See cases [RCV000510320] Chr10:46966534..51822386 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51848637)x3 copy number gain See cases [RCV000511694] Chr10:46966534..51848637 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic|uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51903756)x1 copy number loss See cases [RCV000510805] Chr10:46966534..51903756 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3 copy number gain See cases [RCV000510893] Chr10:100026..50961640 [GRCh37]
Chr10:10p15.3-q11.23		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51903756)x1 copy number loss See cases [RCV000511082] Chr10:46966533..51903756 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
NC_000010.10:g.43611191_61663279inv inversion Pediatric metastatic thyroid tumour [RCV000585841] Chr10:43611191..61663279 [GRCh37]
Chr10:10q11.21-21.2		 likely pathogenic
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3		 drug response
NM_004962.5(GDF10):c.989C>G (p.Ala330Gly) single nucleotide variant Inborn genetic diseases [RCV003242836] Chr10:47310465 [GRCh38]
Chr10:48428897 [GRCh37]
Chr10:10q11.22		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51891907)x3 copy number gain See cases [RCV000512156] Chr10:46966534..51891907 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51700837)x1 copy number loss not provided [RCV000683276] Chr10:46966533..51700837 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51822386)x3 copy number gain not provided [RCV000683277] Chr10:46966533..51822386 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51903755)x1 copy number loss not provided [RCV000683279] Chr10:46966533..51903755 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46287821-51861565)x1 copy number loss not provided [RCV000683280] Chr10:46287821..51861565 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46225364-51874356)x1 copy number loss not provided [RCV000683281] Chr10:46225364..51874356 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic|likely pathogenic
GRCh37/hg19 10q11.22(chr10:47059392-48736754)x1 copy number loss not provided [RCV000683263] Chr10:47059392..48736754 [GRCh37]
Chr10:10q11.22		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51874356)x1 copy number loss not provided [RCV000683278] Chr10:46966533..51874356 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic|likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:47049547-51903662)x3 copy number gain not provided [RCV000737103] Chr10:47049547..51903662 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
Single allele duplication Schizophrenia [RCV000754119] Chr10:46157933..50098267 [GRCh38]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46544810-51743471) copy number loss not provided [RCV000767657] Chr10:46544810..51743471 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
NC_000010.10:g.(?_48370533)_(48429566_?)dup duplication not provided [RCV001033568] Chr10:48370533..48429566 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_004962.5(GDF10):c.1045A>G (p.Met349Val) single nucleotide variant not provided [RCV000968172] Chr10:47310521 [GRCh38]
Chr10:48428841 [GRCh37]
Chr10:10q11.22		 benign
NM_004962.5(GDF10):c.912G>A (p.Pro304=) single nucleotide variant not provided [RCV000947249] Chr10:47310388 [GRCh38]
Chr10:48428974 [GRCh37]
Chr10:10q11.22		 benign
GRCh37/hg19 10q11.22-11.23(chr10:48102606-50641752) copy number loss not provided [RCV000767599] Chr10:48102606..50641752 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:48252674-51830366)x3 copy number gain not provided [RCV000848290] Chr10:48252674..51830366 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51850064)x3 copy number gain not provided [RCV000847823] Chr10:46966533..51850064 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46287086-51830366)x3 copy number gain not provided [RCV000848957] Chr10:46287086..51830366 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46235357-51874163)x1 copy number loss not provided [RCV000847130] Chr10:46235357..51874163 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:47148813-51626260)x3 copy number gain not provided [RCV000845945] Chr10:47148813..51626260 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51903755)x1 copy number loss not provided [RCV000847072] Chr10:46966533..51903755 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:48106368-51250418)x1 copy number loss not provided [RCV000849733] Chr10:48106368..51250418 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46321318-51595050)x1 copy number loss not provided [RCV001249414] Chr10:46321318..51595050 [GRCh37]
Chr10:10q11.22-11.23		 not provided
NM_004962.5(GDF10):c.1000C>G (p.Arg334Gly) single nucleotide variant Inborn genetic diseases [RCV003272788] Chr10:47310476 [GRCh38]
Chr10:48428886 [GRCh37]
Chr10:10q11.22		 uncertain significance
GRCh37/hg19 10q11.22(chr10:47062985-48769625)x3 copy number gain not provided [RCV002472913] Chr10:47062985..48769625 [GRCh37]
Chr10:10q11.22		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:48252675-51861565)x1 copy number loss not provided [RCV002472619] Chr10:48252675..51861565 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:48301535-51807296)x3 copy number gain not provided [RCV001537904] Chr10:48301535..51807296 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
NC_000010.10:g.(?_48370533)_(48438710_?)dup duplication not provided [RCV001033056] Chr10:48370533..48438710 [GRCh37]
Chr10:10q11.22		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46964973-51826226) copy number loss 10q11.22q11.23 microdeletion including CHAT and SLC18A3 [RCV001255694] Chr10:46964973..51826226 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:47132305-51627470)x1 copy number loss not provided [RCV001260090] Chr10:47132305..51627470 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46576515-51680164) copy number loss Telangiectasia, hereditary hemorrhagic, type 5 [RCV002280655] Chr10:46576515..51680164 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966535-51874356)x1 copy number loss not provided [RCV001281356] Chr10:46966535..51874356 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
NC_000010.10:g.(?_48370533)_(48438710_?)del deletion not provided [RCV001385467] Chr10:48370533..48438710 [GRCh37]
Chr10:10q11.22		 pathogenic
NM_004962.5(GDF10):c.314G>C (p.Arg105Thr) single nucleotide variant Inborn genetic diseases [RCV003252233] Chr10:47300965 [GRCh38]
Chr10:48438397 [GRCh37]
Chr10:10q11.22		 uncertain significance
GRCh37/hg19 10q11.22(chr10:48301643-48769625)x1 copy number loss not provided [RCV001833050] Chr10:48301643..48769625 [GRCh37]
Chr10:10q11.22		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46287821-51627470)x1 copy number loss See cases [RCV002293401] Chr10:46287821..51627470 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51903756)x3 copy number gain not provided [RCV002472545] Chr10:46966534..51903756 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic|uncertain significance
NM_004962.5(GDF10):c.40C>A (p.Pro14Thr) single nucleotide variant Inborn genetic diseases [RCV003262371] Chr10:47300691 [GRCh38]
Chr10:48438671 [GRCh37]
Chr10:10q11.22		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46269493-51874356)x1 copy number loss not provided [RCV002474544] Chr10:46269493..51874356 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51700837)x1 copy number loss not provided [RCV002474530] Chr10:46966534..51700837 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46584432-51974628)x3 copy number gain not provided [RCV002511649] Chr10:46584432..51974628 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
NM_004962.5(GDF10):c.775G>A (p.Val259Met) single nucleotide variant Inborn genetic diseases [RCV002728479] Chr10:47310251 [GRCh38]
Chr10:48429111 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_004962.5(GDF10):c.235A>G (p.Met79Val) single nucleotide variant Inborn genetic diseases [RCV002799602] Chr10:47300886 [GRCh38]
Chr10:48438476 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_004962.5(GDF10):c.668C>T (p.Ala223Val) single nucleotide variant Inborn genetic diseases [RCV002893818] Chr10:47310144 [GRCh38]
Chr10:48429218 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_004962.5(GDF10):c.862G>A (p.Val288Met) single nucleotide variant Inborn genetic diseases [RCV003003886] Chr10:47310338 [GRCh38]
Chr10:48429024 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_004962.5(GDF10):c.974C>T (p.Pro325Leu) single nucleotide variant Inborn genetic diseases [RCV002892404] Chr10:47310450 [GRCh38]
Chr10:48428912 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_004962.5(GDF10):c.193G>A (p.Ala65Thr) single nucleotide variant Inborn genetic diseases [RCV002803784] Chr10:47300844 [GRCh38]
Chr10:48438518 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_004962.5(GDF10):c.627C>G (p.Ile209Met) single nucleotide variant Inborn genetic diseases [RCV002718713] Chr10:47310103 [GRCh38]
Chr10:48429259 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_004962.5(GDF10):c.1387G>A (p.Val463Ile) single nucleotide variant Inborn genetic diseases [RCV002959893] Chr10:47312742 [GRCh38]
Chr10:48426620 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_004962.5(GDF10):c.221T>C (p.Met74Thr) single nucleotide variant Inborn genetic diseases [RCV002747417] Chr10:47300872 [GRCh38]
Chr10:48438490 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_004962.5(GDF10):c.1222G>T (p.Ala408Ser) single nucleotide variant Inborn genetic diseases [RCV003179980] Chr10:47310698 [GRCh38]
Chr10:48428664 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_004962.5(GDF10):c.890C>G (p.Pro297Arg) single nucleotide variant Inborn genetic diseases [RCV003204079] Chr10:47310366 [GRCh38]
Chr10:48428996 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_004962.5(GDF10):c.955C>T (p.His319Tyr) single nucleotide variant Inborn genetic diseases [RCV003189151] Chr10:47310431 [GRCh38]
Chr10:48428931 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_004962.5(GDF10):c.1379G>A (p.Arg460Gln) single nucleotide variant Inborn genetic diseases [RCV003185088] Chr10:47312734 [GRCh38]
Chr10:48426628 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_004962.5(GDF10):c.694C>G (p.Pro232Ala) single nucleotide variant Inborn genetic diseases [RCV003179855] Chr10:47310170 [GRCh38]
Chr10:48429192 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_004962.5(GDF10):c.910C>G (p.Pro304Ala) single nucleotide variant Inborn genetic diseases [RCV003263192] Chr10:47310386 [GRCh38]
Chr10:48428976 [GRCh37]
Chr10:10q11.22		 uncertain significance
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3		 pathogenic
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46284269-51870080)x1 copy number loss See cases [RCV003329537] Chr10:46284269..51870080 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
NM_004962.5(GDF10):c.1349C>G (p.Ser450Cys) single nucleotide variant Inborn genetic diseases [RCV003361986] Chr10:47312704 [GRCh38]
Chr10:48426658 [GRCh37]
Chr10:10q11.22		 uncertain significance
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 copy number gain not provided [RCV003484798] Chr10:42709645..100834951 [GRCh37]
Chr10:10q11.21-24.2		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:48349961-51817663)x3 copy number gain not provided [RCV003484799] Chr10:48349961..51817663 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:310
Count of miRNA genes:283
Interacting mature miRNAs:295
Transcripts:ENST00000224605
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
RH80966  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371048,425,818 - 48,426,013UniSTSGRCh37
Build 361048,045,824 - 48,046,019RGDNCBI36
Celera1044,850,036 - 44,850,231RGD
Cytogenetic Map10q11.22UniSTS
HuRef1043,178,586 - 43,178,781UniSTS
RH78115  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371048,425,353 - 48,425,498UniSTSGRCh37
Build 361048,045,359 - 48,045,504RGDNCBI36
Celera1044,849,571 - 44,849,716RGD
Cytogenetic Map10q11.22UniSTS
HuRef1043,178,121 - 43,178,266UniSTS
RH121909  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371048,426,305 - 48,426,506UniSTSGRCh37
Build 361048,046,311 - 48,046,512RGDNCBI36
Celera1044,850,523 - 44,850,724RGD
Cytogenetic Map10q11.22UniSTS
HuRef1043,179,073 - 43,179,274UniSTS
GDF10_2025  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371048,425,728 - 48,426,625UniSTSGRCh37
Build 361048,045,734 - 48,046,631RGDNCBI36
Celera1044,849,946 - 44,850,843RGD
HuRef1043,178,496 - 43,179,393UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage
High
Medium 649 714 496 85 4 3 1561 597 936 2 360 1003 82 471 1086
Low 1364 1192 572 100 166 20 2108 870 2447 51 659 244 80 693 1302
Below cutoff 235 813 375 218 791 219 576 685 228 77 155 32 3 40 395

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000580279   ⟹   ENSP00000464145
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1047,300,197 - 47,313,577 (+)Ensembl
RefSeq Acc Id: NM_004962   ⟹   NP_004953
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381047,300,197 - 47,313,577 (+)NCBI
GRCh371048,425,785 - 48,439,138 (-)ENTREZGENE
Build 361048,045,795 - 48,059,172 (-)NCBI Archive
Celera1044,850,007 - 44,863,384 (-)RGD
HuRef1043,178,553 - 43,191,903 (-)ENTREZGENE
CHM1_11048,590,851 - 48,604,204 (-)NCBI
T2T-CHM13v2.01048,191,293 - 48,204,673 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_004953 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH28237 (Get FASTA)   NCBI Sequence Viewer  
  AAL77527 (Get FASTA)   NCBI Sequence Viewer  
  BAA08452 (Get FASTA)   NCBI Sequence Viewer  
  BAA08453 (Get FASTA)   NCBI Sequence Viewer  
  EAW50661 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000464145
  ENSP00000464145.1
GenBank Protein P55107 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_004953   ⟸   NM_004962
- Peptide Label: preproprotein
- UniProtKB: Q5VSQ8 (UniProtKB/Swiss-Prot),   Q9UCX6 (UniProtKB/Swiss-Prot),   P55107 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000464145   ⟸   ENST00000580279

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P55107-F1-model_v2 AlphaFold P55107 1-478 view protein structure

Promoters
RGD ID:7217467
Promoter ID:EPDNEW_H14479
Type:initiation region
Name:GDF10_1
Description:growth differentiation factor 10
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
GRCh381047,300,360 - 47,300,420EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4215 AgrOrtholog
COSMIC GDF10 COSMIC
Ensembl Genes ENSG00000266524 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000580279 ENTREZGENE
  ENST00000580279.2 UniProtKB/Swiss-Prot
Gene3D-CATH 2.10.90.10 UniProtKB/Swiss-Prot
GTEx ENSG00000266524 GTEx
HGNC ID HGNC:4215 ENTREZGENE
Human Proteome Map GDF10 Human Proteome Map
InterPro BMP3/BMP3B UniProtKB/Swiss-Prot
  Cystine-knot_cytokine UniProtKB/Swiss-Prot
  TGF-b_C UniProtKB/Swiss-Prot
  TGF-beta-rel UniProtKB/Swiss-Prot
  TGFb_CS UniProtKB/Swiss-Prot
KEGG Report hsa:2662 UniProtKB/Swiss-Prot
NCBI Gene 2662 ENTREZGENE
OMIM 601361 OMIM
PANTHER GROWTH/DIFFERENTIATION FACTOR 10 UniProtKB/Swiss-Prot
  PTHR11848 UniProtKB/Swiss-Prot
Pfam TGF_beta UniProtKB/Swiss-Prot
PharmGKB GDF10 RGD, PharmGKB
PIRSF BMP3/GDF10 UniProtKB/Swiss-Prot
PROSITE TGF_BETA_1 UniProtKB/Swiss-Prot
  TGF_BETA_2 UniProtKB/Swiss-Prot
SMART TGFB UniProtKB/Swiss-Prot
Superfamily-SCOP SSF57501 UniProtKB/Swiss-Prot
UniProt GDF10_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5VSQ8 ENTREZGENE
  Q9UCX6 ENTREZGENE
UniProt Secondary Q5VSQ8 UniProtKB/Swiss-Prot
  Q9UCX6 UniProtKB/Swiss-Prot