CTSA (cathepsin A) - Rat Genome Database

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Gene: CTSA (cathepsin A) Homo sapiens
Analyze
Symbol: CTSA
Name: cathepsin A
RGD ID: 1319205
HGNC Page HGNC:9251
Description: Enables serine-type carboxypeptidase activity. Involved in negative regulation of chaperone-mediated autophagy; proteolysis; and regulation of protein stability. Located in intracellular membrane-bounded organelle. Implicated in galactosialidosis and lysosomal storage disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: beta-galactosidase 2; beta-galactosidase protective protein; carboxypeptidase C; carboxypeptidase L; carboxypeptidase Y-like kininase; carboxypeptidase-L; deamidase; GLB2; GSL; lysosomal carboxypeptidase A; lysosomal protective protein; NGBE; PPCA; PPGB; protective protein cathepsin A; protective protein for beta-galactosidase (galactosialidosis); urinary kininase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
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
GRCh382045,891,335 - 45,898,820 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl2045,890,144 - 45,898,949 (+)EnsemblGRCh38hg38GRCh38
GRCh372044,519,974 - 44,527,459 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362043,952,998 - 43,960,866 (+)NCBINCBI36hg18NCBI36
Build 342043,953,612 - 43,960,863NCBI
Celera2041,231,053 - 41,238,921 (+)NCBI
Cytogenetic Map20q13.12NCBI
HuRef2041,261,571 - 41,269,436 (+)NCBIHuRef
CHM1_12044,422,715 - 44,430,579 (+)NCBICHM1_1
T2T-CHM13v2.02047,627,833 - 47,635,315 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
3',5'-cyclic AMP  (ISO)
4,4'-sulfonyldiphenol  (ISO)
aconitine  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
ampicillin  (ISO)
aristolochic acid  (EXP)
Aroclor 1254  (ISO)
arsenous acid  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (ISO)
bisphenol A  (EXP,ISO)
bleomycin A2  (ISO)
butanal  (EXP)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
chloroquine  (EXP)
chlorpyrifos  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
cyclosporin A  (EXP)
diarsenic trioxide  (EXP)
diethylstilbestrol  (ISO)
divanadium pentaoxide  (ISO)
doxorubicin  (EXP)
elemental selenium  (EXP)
fenthion  (ISO)
flutamide  (ISO)
folic acid  (ISO)
genistein  (ISO)
gentamycin  (ISO)
glafenine  (ISO)
ivermectin  (EXP)
L-cysteine  (ISO)
lead diacetate  (ISO)
methidathion  (ISO)
metronidazole  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
neomycin  (ISO)
ochratoxin A  (ISO)
paracetamol  (EXP,ISO)
perfluorododecanoic acid  (ISO)
pirinixic acid  (ISO)
quizartinib  (EXP)
rac-lactic acid  (EXP)
remdesivir  (EXP)
selenium atom  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP)
Soman  (ISO)
T-2 toxin  (EXP)
tamibarotene  (EXP)
temozolomide  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
triptonide  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
7. Protective protein gene mutations in galactosialidosis. Shimmoto M, etal., J Clin Invest. 1993 Jun;91(6):2393-8.
Additional References at PubMed
PMID:1387645   PMID:1605251   PMID:1694176   PMID:1756715   PMID:1907282   PMID:1907800   PMID:2071143   PMID:2148053   PMID:2244901   PMID:3084261   PMID:3102233   PMID:3107551  
PMID:3136930   PMID:3149149   PMID:3922758   PMID:6418007   PMID:6796775   PMID:8053688   PMID:8068159   PMID:8198123   PMID:8591035   PMID:8910459   PMID:8968752   PMID:9105659  
PMID:9501080   PMID:9603439   PMID:9636645   PMID:10207930   PMID:10944848   PMID:11780052   PMID:12477932   PMID:12505983   PMID:12649068   PMID:12665801   PMID:14702039   PMID:14718574  
PMID:15489334   PMID:15785934   PMID:16263699   PMID:16344560   PMID:16538002   PMID:17353931   PMID:18029348   PMID:19056867   PMID:19666471   PMID:19946888   PMID:19954752   PMID:20176123  
PMID:21873635   PMID:22268729   PMID:22532132   PMID:22863883   PMID:22939629   PMID:23376485   PMID:23495688   PMID:23533145   PMID:23824909   PMID:23874603   PMID:23915561   PMID:24337808  
PMID:24623722   PMID:24769197   PMID:24778252   PMID:25075748   PMID:25544563   PMID:25659154   PMID:25959826   PMID:26186194   PMID:26259553   PMID:26344197   PMID:26496610   PMID:27173435  
PMID:27177495   PMID:28298427   PMID:28514442   PMID:29845934   PMID:30010039   PMID:30097533   PMID:30278264   PMID:30581499   PMID:30833792   PMID:31192586   PMID:31586073   PMID:31594818  
PMID:31871319   PMID:32129710   PMID:32296183   PMID:32323791   PMID:32409323   PMID:32513696   PMID:32780723   PMID:33545068   PMID:33961781   PMID:34079125   PMID:34774536  


Genomics

Comparative Map Data
CTSA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382045,891,335 - 45,898,820 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl2045,890,144 - 45,898,949 (+)EnsemblGRCh38hg38GRCh38
GRCh372044,519,974 - 44,527,459 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362043,952,998 - 43,960,866 (+)NCBINCBI36hg18NCBI36
Build 342043,953,612 - 43,960,863NCBI
Celera2041,231,053 - 41,238,921 (+)NCBI
Cytogenetic Map20q13.12NCBI
HuRef2041,261,571 - 41,269,436 (+)NCBIHuRef
CHM1_12044,422,715 - 44,430,579 (+)NCBICHM1_1
T2T-CHM13v2.02047,627,833 - 47,635,315 (+)NCBI
Ctsa
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392164,674,792 - 164,682,952 (+)NCBIGRCm39mm39
GRCm39 Ensembl2164,674,793 - 164,682,952 (+)Ensembl
GRCm382164,832,872 - 164,841,032 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2164,832,873 - 164,841,032 (+)EnsemblGRCm38mm10GRCm38
MGSCv372164,658,373 - 164,666,532 (+)NCBIGRCm37mm9NCBIm37
MGSCv362164,524,078 - 164,532,237 (+)NCBImm8
Celera2170,770,535 - 170,778,698 (+)NCBICelera
Cytogenetic Map2H3NCBI
cM Map285.27NCBI
Ctsa
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.23153,569,106 - 153,574,983 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl3153,568,381 - 153,576,215 (+)Ensembl
Rnor_6.03161,298,750 - 161,304,627 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3161,298,962 - 161,304,625 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03167,483,817 - 167,489,976 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43155,866,335 - 155,871,998 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.13155,772,370 - 155,778,034 (+)NCBI
Celera3152,176,711 - 152,182,414 (+)NCBICelera
Cytogenetic Map3q42NCBI
Ctsa
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544511,399,151 - 11,405,069 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544511,399,151 - 11,405,069 (-)NCBIChiLan1.0ChiLan1.0
CTSA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12043,315,722 - 43,324,671 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2043,316,530 - 43,324,671 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02042,229,064 - 42,237,627 (+)NCBIMhudiblu_PPA_v0panPan3
CTSA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12433,183,090 - 33,189,248 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2433,183,090 - 33,189,248 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2432,710,110 - 32,716,269 (+)NCBI
ROS_Cfam_1.02433,893,407 - 33,899,565 (+)NCBI
ROS_Cfam_1.0 Ensembl2433,893,230 - 33,902,559 (+)Ensembl
UMICH_Zoey_3.12433,151,886 - 33,158,036 (+)NCBI
UNSW_CanFamBas_1.02433,267,003 - 33,273,167 (+)NCBI
UU_Cfam_GSD_1.02433,806,176 - 33,812,343 (+)NCBI
Ctsa
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640191,677,621 - 191,683,147 (-)NCBI
SpeTri2.0NW_0049365147,131,263 - 7,136,775 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CTSA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1748,082,448 - 48,089,971 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11748,082,480 - 48,089,971 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21753,729,009 - 53,736,612 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CTSA
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1217,986,036 - 17,993,866 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl217,984,310 - 17,993,489 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605066,625,707 - 66,634,343 (-)NCBIVero_WHO_p1.0
Ctsa
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247908,686,027 - 8,691,898 (-)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_0046247908,686,027 - 8,692,119 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
RH66081  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372044,527,504 - 44,527,647UniSTSGRCh37
Build 362043,960,911 - 43,961,054RGDNCBI36
Celera2041,238,966 - 41,239,109RGD
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map20q13.1UniSTS
HuRef2041,269,481 - 41,269,624UniSTS
GeneMap99-GB4 RH Map20291.46UniSTS
RH93427  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372044,525,389 - 44,525,467UniSTSGRCh37
Build 362043,958,796 - 43,958,874RGDNCBI36
Celera2041,236,851 - 41,236,929RGD
Cytogenetic Map20q13.1UniSTS
HuRef2041,267,367 - 41,267,445UniSTS
GeneMap99-GB4 RH Map20257.44UniSTS
G64282  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372044,520,168 - 44,520,398UniSTSGRCh37
Build 362043,953,575 - 43,953,805RGDNCBI36
Celera2041,231,630 - 41,231,857RGD
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map20q13.1UniSTS
HuRef2041,262,148 - 41,262,375UniSTS
D20S1030  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372044,527,257 - 44,527,359UniSTSGRCh37
Build 362043,960,664 - 43,960,766RGDNCBI36
Celera2041,238,719 - 41,238,821RGD
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map20q13.1UniSTS
HuRef2041,269,234 - 41,269,336UniSTS
GeneMap99-GB4 RH Map20261.52UniSTS
GeneMap99-GB4 RH Map20257.24UniSTS
Whitehead-RH Map20301.4UniSTS
Whitehead-YAC Contig Map20 UniSTS
NCBI RH Map20487.3UniSTS
STS-M22960  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372044,527,156 - 44,527,302UniSTSGRCh37
Build 362043,960,563 - 43,960,709RGDNCBI36
Celera2041,238,618 - 41,238,764RGD
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map20q13.1UniSTS
HuRef2041,269,133 - 41,269,279UniSTS
GeneMap99-GB4 RH Map20257.24UniSTS
Cda16d10  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372044,527,277 - 44,527,416UniSTSGRCh37
Build 362043,960,684 - 43,960,823RGDNCBI36
Celera2041,238,739 - 41,238,878RGD
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map20q13.12UniSTS
HuRef2041,269,254 - 41,269,393UniSTS
GeneMap99-GB4 RH Map20257.44UniSTS
NCBI RH Map20444.9UniSTS
GDB:193197  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map20q13.1UniSTS
L18426  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map12q24.1-q24.3UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p24.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map21q22.1UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map21q21.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map12p12.3UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p13-p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map10q21.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map20p11.21UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map9p21.1UniSTS
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
D5S1597E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map2p12-p11.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map6q16.2UniSTS
D11S2921  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map10q24.33UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic MapXp11.4-p11.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map7q21.12UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11p13-p12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map5q12-q13UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic MapXq25-q26.3UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map12p11.22UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map9p11UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map15q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q22-qterUniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19p13.2-cenUniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map9q33UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic MapXq26.2UniSTS
Cytogenetic Map8q13.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map5p13.1-p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map6q14.3-q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map6q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map6q11.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map14q11.2-q21UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map5p14.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map9p13.1UniSTS
Cytogenetic Map9q34.13UniSTS
D11S3316  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6p21UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map7p15-p14UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map4p12UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2p12-p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q12-q13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map14q31UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5451
Count of miRNA genes:1080
Interacting mature miRNAs:1378
Transcripts:ENST00000191018, ENST00000354880, ENST00000372459, ENST00000372484, ENST00000419493, ENST00000480961, ENST00000484855, ENST00000485627, ENST00000493522, ENST00000606000, ENST00000606066, ENST00000606394, ENST00000606782, ENST00000606788, ENST00000607187, ENST00000607212, ENST00000607482, ENST00000607814, ENST00000607841
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1 1
Medium 2432 2959 1714 617 1922 459 4354 2168 3642 418 1447 1607 171 1204 2787 4
Low 6 32 12 7 29 6 3 29 91 1 11 6 4 1 1 2 2
Below cutoff 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001127695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001167594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_133656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF086236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF491871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK172808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL008726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA029446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M22960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000191018   ⟹   ENSP00000191018
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,891,341 - 45,898,820 (+)Ensembl
RefSeq Acc Id: ENST00000354880   ⟹   ENSP00000346952
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,891,322 - 45,898,820 (+)Ensembl
RefSeq Acc Id: ENST00000372459   ⟹   ENSP00000361537
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,891,386 - 45,898,820 (+)Ensembl
RefSeq Acc Id: ENST00000372484   ⟹   ENSP00000361562
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,890,254 - 45,898,820 (+)Ensembl
RefSeq Acc Id: ENST00000419493   ⟹   ENSP00000408533
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,891,354 - 45,895,807 (+)Ensembl
RefSeq Acc Id: ENST00000480961
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,890,963 - 45,898,949 (+)Ensembl
RefSeq Acc Id: ENST00000484855
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,891,376 - 45,898,949 (+)Ensembl
RefSeq Acc Id: ENST00000485627
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,892,306 - 45,894,329 (+)Ensembl
RefSeq Acc Id: ENST00000493522
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,891,398 - 45,898,949 (+)Ensembl
RefSeq Acc Id: ENST00000606000
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,897,626 - 45,898,627 (+)Ensembl
RefSeq Acc Id: ENST00000606066
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,890,963 - 45,898,949 (+)Ensembl
RefSeq Acc Id: ENST00000606394   ⟹   ENSP00000475827
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,891,313 - 45,895,133 (+)Ensembl
RefSeq Acc Id: ENST00000606782
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,891,846 - 45,898,949 (+)Ensembl
RefSeq Acc Id: ENST00000606788   ⟹   ENSP00000476235
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,890,144 - 45,898,820 (+)Ensembl
RefSeq Acc Id: ENST00000607187
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,890,963 - 45,898,949 (+)Ensembl
RefSeq Acc Id: ENST00000607212
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,891,322 - 45,898,949 (+)Ensembl
RefSeq Acc Id: ENST00000607482   ⟹   ENSP00000475524
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,891,376 - 45,898,820 (+)Ensembl
RefSeq Acc Id: ENST00000607814
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,891,356 - 45,898,949 (+)Ensembl
RefSeq Acc Id: ENST00000607841
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,891,335 - 45,892,247 (+)Ensembl
RefSeq Acc Id: ENST00000646241   ⟹   ENSP00000493613
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,891,335 - 45,898,820 (+)Ensembl
RefSeq Acc Id: ENST00000676526   ⟹   ENSP00000504209
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,890,971 - 45,895,367 (+)Ensembl
RefSeq Acc Id: ENST00000676597   ⟹   ENSP00000503904
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,891,569 - 45,898,500 (+)Ensembl
RefSeq Acc Id: ENST00000676657   ⟹   ENSP00000504158
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,891,366 - 45,895,939 (+)Ensembl
RefSeq Acc Id: ENST00000676967   ⟹   ENSP00000502866
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,891,421 - 45,898,824 (+)Ensembl
RefSeq Acc Id: ENST00000677394   ⟹   ENSP00000504790
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,890,299 - 45,898,801 (+)Ensembl
RefSeq Acc Id: ENST00000677525   ⟹   ENSP00000504197
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,891,342 - 45,898,820 (+)Ensembl
RefSeq Acc Id: ENST00000677755
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,891,621 - 45,898,949 (+)Ensembl
RefSeq Acc Id: ENST00000678025   ⟹   ENSP00000503463
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,891,345 - 45,898,824 (+)Ensembl
RefSeq Acc Id: ENST00000678078   ⟹   ENSP00000502993
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,890,868 - 45,898,568 (+)Ensembl
RefSeq Acc Id: ENST00000678217   ⟹   ENSP00000504109
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,891,569 - 45,898,713 (+)Ensembl
RefSeq Acc Id: ENST00000678331   ⟹   ENSP00000504524
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,891,356 - 45,898,683 (+)Ensembl
RefSeq Acc Id: ENST00000678443   ⟹   ENSP00000504006
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,891,569 - 45,898,794 (+)Ensembl
RefSeq Acc Id: ENST00000678512
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,891,343 - 45,898,821 (+)Ensembl
RefSeq Acc Id: ENST00000678622
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,890,963 - 45,898,949 (+)Ensembl
RefSeq Acc Id: ENST00000678691
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,890,963 - 45,898,949 (+)Ensembl
RefSeq Acc Id: ENST00000678939   ⟹   ENSP00000503404
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,891,342 - 45,898,804 (+)Ensembl
RefSeq Acc Id: ENST00000678988
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,890,341 - 45,898,949 (+)Ensembl
RefSeq Acc Id: ENST00000679053
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,890,963 - 45,898,949 (+)Ensembl
RefSeq Acc Id: ENST00000679343
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,890,963 - 45,898,949 (+)Ensembl
RefSeq Acc Id: ENST00000684198
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,890,963 - 45,898,949 (+)Ensembl
RefSeq Acc Id: NM_000308   ⟹   NP_000299
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382045,891,335 - 45,898,820 (+)NCBI
GRCh372044,519,591 - 44,527,459 (+)ENTREZGENE
Build 362043,952,998 - 43,960,866 (+)NCBI Archive
HuRef2041,261,571 - 41,269,436 (+)ENTREZGENE
CHM1_12044,421,907 - 44,430,579 (+)NCBI
T2T-CHM13v2.02047,627,833 - 47,635,315 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001127695   ⟹   NP_001121167
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382045,891,335 - 45,898,820 (+)NCBI
GRCh372044,519,591 - 44,527,459 (+)ENTREZGENE
HuRef2041,261,571 - 41,269,436 (+)ENTREZGENE
CHM1_12044,421,907 - 44,430,579 (+)NCBI
T2T-CHM13v2.02047,627,833 - 47,635,315 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001167594   ⟹   NP_001161066
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382045,891,335 - 45,898,820 (+)NCBI
GRCh372044,519,591 - 44,527,459 (+)ENTREZGENE
HuRef2041,261,571 - 41,269,436 (+)ENTREZGENE
CHM1_12044,421,907 - 44,430,579 (+)NCBI
T2T-CHM13v2.02047,627,833 - 47,635,315 (+)NCBI
Sequence:
RefSeq Acc Id: NR_133656
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382045,891,335 - 45,898,820 (+)NCBI
CHM1_12044,421,907 - 44,430,579 (+)NCBI
T2T-CHM13v2.02047,627,833 - 47,635,315 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001121167   ⟸   NM_001127695
- Peptide Label: isoform b preproprotein
- UniProtKB: P10619 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_000299   ⟸   NM_000308
- Peptide Label: isoform b preproprotein
- Sequence:
RefSeq Acc Id: NP_001161066   ⟸   NM_001167594
- Peptide Label: isoform c precursor
- Sequence:
RefSeq Acc Id: ENSP00000361537   ⟸   ENST00000372459
RefSeq Acc Id: ENSP00000361562   ⟸   ENST00000372484
RefSeq Acc Id: ENSP00000191018   ⟸   ENST00000191018
RefSeq Acc Id: ENSP00000408533   ⟸   ENST00000419493
RefSeq Acc Id: ENSP00000346952   ⟸   ENST00000354880
RefSeq Acc Id: ENSP00000475827   ⟸   ENST00000606394
RefSeq Acc Id: ENSP00000476235   ⟸   ENST00000606788
RefSeq Acc Id: ENSP00000475524   ⟸   ENST00000607482
RefSeq Acc Id: ENSP00000493613   ⟸   ENST00000646241
RefSeq Acc Id: ENSP00000502866   ⟸   ENST00000676967
RefSeq Acc Id: ENSP00000504158   ⟸   ENST00000676657
RefSeq Acc Id: ENSP00000504209   ⟸   ENST00000676526
RefSeq Acc Id: ENSP00000503904   ⟸   ENST00000676597
RefSeq Acc Id: ENSP00000504197   ⟸   ENST00000677525
RefSeq Acc Id: ENSP00000504790   ⟸   ENST00000677394
RefSeq Acc Id: ENSP00000503463   ⟸   ENST00000678025
RefSeq Acc Id: ENSP00000502993   ⟸   ENST00000678078
RefSeq Acc Id: ENSP00000504006   ⟸   ENST00000678443
RefSeq Acc Id: ENSP00000504524   ⟸   ENST00000678331
RefSeq Acc Id: ENSP00000504109   ⟸   ENST00000678217
RefSeq Acc Id: ENSP00000503404   ⟸   ENST00000678939

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P10619-F1-model_v2 AlphaFold P10619 1-480 view protein structure

Promoters
RGD ID:6798621
Promoter ID:HG_KWN:39635
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000191018,   ENST00000372459,   ENST00000372471,   NM_001167594,   OTTHUMT00000080497,   OTTHUMT00000080499,   OTTHUMT00000080501,   UC002XQI.1,   UC002XQK.2
Position:
Human AssemblyChrPosition (strand)Source
Build 362043,952,541 - 43,953,417 (+)MPROMDB
RGD ID:6850632
Promoter ID:EP73110
Type:initiation region
Name:HS_PPGB
Description:Protective protein for beta-galactosidase (galactosialidosis).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 362043,953,381 - 43,953,441EPD
RGD ID:6798620
Promoter ID:HG_KWN:39637
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000080504
Position:
Human AssemblyChrPosition (strand)Source
Build 362043,954,461 - 43,955,277 (+)MPROMDB
RGD ID:6798622
Promoter ID:HG_KWN:39638
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:OTTHUMT00000080505
Position:
Human AssemblyChrPosition (strand)Source
Build 362043,955,906 - 43,956,406 (+)MPROMDB
RGD ID:6798623
Promoter ID:HG_KWN:39639
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   NB4
Transcripts:OTTHUMT00000080506
Position:
Human AssemblyChrPosition (strand)Source
Build 362043,958,956 - 43,960,307 (+)MPROMDB
RGD ID:13207131
Promoter ID:EPDNEW_H27146
Type:initiation region
Name:CTSA_1
Description:cathepsin A
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
GRCh382045,891,335 - 45,891,395EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000308.4(CTSA):c.1306C>T (p.Gln436Ter) single nucleotide variant not provided [RCV001507467] Chr20:45898056 [GRCh38]
Chr20:44526695 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.692+3A>G single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV000308111]|Galactosialidosis, adult [RCV000000407] Chr20:45893314 [GRCh38]
Chr20:44521953 [GRCh37]
Chr20:20q13.12
pathogenic
NM_000308.4(CTSA):c.517_518del (p.Phe173fs) deletion Combined deficiency of sialidase AND beta galactosidase [RCV001526984]|Galactosialidosis, late infantile [RCV000000418] Chr20:45892795..45892796 [GRCh38]
Chr20:44521434..44521435 [GRCh37]
Chr20:20q13.12
pathogenic
NM_000308.4(CTSA):c.777+9C>G single nucleotide variant Galactosialidosis, late infantile [RCV000000420] Chr20:45894081 [GRCh38]
Chr20:44522720 [GRCh37]
Chr20:20q13.12
pathogenic
NM_000308.4(CTSA):c.54G>C (p.Leu18=) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001084666]|not provided [RCV000675493] Chr20:45891622 [GRCh38]
Chr20:44520261 [GRCh37]
Chr20:20q13.12
likely benign|conflicting interpretations of pathogenicity
NM_000308.4(CTSA):c.1318T>G (p.Phe440Val) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001851509]|Galactosialidosis, late infantile [RCV000000406] Chr20:45898068 [GRCh38]
Chr20:44526707 [GRCh37]
Chr20:20q13.12
pathogenic|likely pathogenic
NM_000308.4(CTSA):c.146A>G (p.Gln49Arg) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV000000408] Chr20:45891714 [GRCh38]
Chr20:44520353 [GRCh37]
Chr20:20q13.12
pathogenic
NM_000308.4(CTSA):c.193T>C (p.Trp65Arg) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV000000409] Chr20:45891761 [GRCh38]
Chr20:44520400 [GRCh37]
Chr20:20q13.12
pathogenic
NM_000308.4(CTSA):c.269C>T (p.Ser90Leu) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV000000410] Chr20:45891990 [GRCh38]
Chr20:44520629 [GRCh37]
Chr20:20q13.12
pathogenic
NM_000308.4(CTSA):c.1184A>G (p.Tyr395Cys) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV000000411] Chr20:45897736 [GRCh38]
Chr20:44526375 [GRCh37]
Chr20:20q13.12
pathogenic
NM_000308.4(CTSA):c.745T>A (p.Tyr249Asn) single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV000000412]|Galactosialidosis, late infantile [RCV000000413] Chr20:45894040 [GRCh38]
Chr20:44522679 [GRCh37]
Chr20:20q13.12
pathogenic
NM_000308.4(CTSA):c.394G>A (p.Val132Met) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV000087090]|Galactosialidosis, early infantile [RCV000000414] Chr20:45892434 [GRCh38]
Chr20:44521073 [GRCh37]
Chr20:20q13.12
pathogenic
NM_001127695.1(CTSA):c.707T>C (p.Leu236Pro) single nucleotide variant Galactosialidosis, early infantile [RCV000000415] Chr20:45894002 [GRCh38]
Chr20:44522641 [GRCh37]
Chr20:20q13.12
pathogenic
NM_000308.4(CTSA):c.1315G>A (p.Gly439Ser) single nucleotide variant Galactosialidosis, early infantile [RCV000000416] Chr20:45898065 [GRCh38]
Chr20:44526704 [GRCh37]
Chr20:20q13.12
pathogenic
NM_000308.4(CTSA):c.1217T>C (p.Met406Thr) single nucleotide variant Galactosialidosis, late infantile [RCV000000417] Chr20:45897769 [GRCh38]
Chr20:44526408 [GRCh37]
Chr20:20q13.12
pathogenic
NM_000308.4(CTSA):c.1357A>G (p.Lys453Glu) single nucleotide variant Galactosialidosis, late infantile [RCV000000419] Chr20:45898107 [GRCh38]
Chr20:44526746 [GRCh37]
Chr20:20q13.12
pathogenic
NM_000308.4(CTSA):c.230del (p.Pro77fs) AND Combined deficiency of sialidase deletion Combined deficiency of sialidase AND beta galactosidase [RCV000087089] Chr20:45891949 [GRCh38]
Chr20:44520588 [GRCh37]
Chr20:20q13.12
pathogenic
GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3 copy number gain See cases [RCV000053035] Chr20:44787704..64277321 [GRCh38]
Chr20:43416345..62908674 [GRCh37]
Chr20:42849759..62379118 [NCBI36]
Chr20:20q13.12-13.33
pathogenic
NM_000308.4(CTSA):c.595del (p.Leu199fs) AND Combined deficiency of sialidase deletion Combined deficiency of sialidase AND beta galactosidase [RCV001844064]|Non-immune hydrops fetalis [RCV000170578] Chr20:45892874 [GRCh38]
Chr20:44521513 [GRCh37]
Chr20:20q13.12
pathogenic|likely pathogenic
NM_000308.4(CTSA):c.56del (p.Leu19fs) AND Combined deficiency of sialidase deletion Combined deficiency of sialidase AND beta galactosidase [RCV001332356] Chr20:45891624 [GRCh38]
Chr20:44520263 [GRCh37]
Chr20:20q13.12
pathogenic
NM_000308.4(CTSA):c.51_54delinsC (p.Leu19del) AND Combined deficiency of sialidase indel Combined deficiency of sialidase AND beta galactosidase [RCV000256455] Chr20:45891619..45891622 [GRCh38]
Chr20:44520258..44520261 [GRCh37]
Chr20:20q13.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000308.4(CTSA):c.833_834del (p.Tyr278fs) AND Combined deficiency of sialidase deletion Combined deficiency of sialidase AND beta galactosidase [RCV000211118] Chr20:45894704..45894705 [GRCh38]
Chr20:44523343..44523344 [GRCh37]
Chr20:20q13.12
pathogenic
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33
pathogenic
GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1 copy number loss See cases [RCV000140816] Chr20:35237946..47631818 [GRCh38]
Chr20:33825749..46260562 [GRCh37]
Chr20:33289165..45693969 [NCBI36]
Chr20:20q11.22-13.12
pathogenic
NM_000308.4(CTSA):c.33GCT[7] (p.Leu19del) AND Combined deficiency of sialidase microsatellite Combined deficiency of sialidase AND beta galactosidase [RCV000317016]|not provided [RCV000588925]|not specified [RCV000175578] Chr20:45891599..45891601 [GRCh38]
Chr20:44520238..44520240 [GRCh37]
Chr20:20q13.12
benign
NM_000308.3(CTSA):c.85_110del26ins23 indel not specified [RCV000192443] Chr20:45891599..45891624 [GRCh38]
Chr20:44520238..44520263 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.-42C>T AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV000278082] Chr20:45891338 [GRCh38]
Chr20:44519977 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_080749.4(NEURL2):c.-112C>T single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV000357918]|not provided [RCV000833546] Chr20:45891103 [GRCh38]
Chr20:44519742 [GRCh37]
Chr20:20q13.12
likely benign
NM_000308.4(CTSA):c.839C>T (p.Pro280Leu) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV000359729] Chr20:45894711 [GRCh38]
Chr20:44523350 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.699G>A (p.Trp233Ter) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV000360484] Chr20:45893994 [GRCh38]
Chr20:44522633 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.1366G>A (p.Gly456Ser) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV000274356] Chr20:45898373 [GRCh38]
Chr20:44527012 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_080749.4(NEURL2):c.-13C>T AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV000364953]|not provided [RCV001691964] Chr20:45891004 [GRCh38]
Chr20:44519643 [GRCh37]
Chr20:20q13.12
benign
NM_000308.4(CTSA):c.468C>T (p.Ala156=) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV000348044] Chr20:45892748 [GRCh38]
Chr20:44521387 [GRCh37]
Chr20:20q13.12
benign|likely benign|uncertain significance
NM_000308.4(CTSA):c.1036G>A (p.Val346Met) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV000320225]|not provided [RCV001507466] Chr20:45895081 [GRCh38]
Chr20:44523720 [GRCh37]
Chr20:20q13.12
likely benign|uncertain significance
NM_001127695.2(CTSA):c.-143G>T single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV000374904]|not provided [RCV000767319] Chr20:45891283 [GRCh38]
Chr20:44519922 [GRCh37]
Chr20:20q13.12
benign|likely benign|not provided
NM_080749.4(NEURL2):c.-101G>C AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV000324157] Chr20:45891092 [GRCh38]
Chr20:44519731 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.*266T>A AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV000327371] Chr20:45898716 [GRCh38]
Chr20:44527355 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.1124G>A (p.Arg375Gln) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV000332847] Chr20:45897000 [GRCh38]
Chr20:44525639 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.358-5T>G AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV000290736] Chr20:45892393 [GRCh38]
Chr20:44521032 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.105C>T (p.Ile35=) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV000387873]|not provided [RCV000675494] Chr20:45891673 [GRCh38]
Chr20:44520312 [GRCh37]
Chr20:20q13.12
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_080749.4(NEURL2):c.-98del AND Combined deficiency of sialidase deletion Combined deficiency of sialidase AND beta galactosidase [RCV000266629] Chr20:45891089 [GRCh38]
Chr20:44519728 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.*320G>A AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV000384242] Chr20:45898770 [GRCh38]
Chr20:44527409 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.1088+10C>T single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV000261253]|not provided [RCV000675498]|not specified [RCV000454662] Chr20:45895143 [GRCh38]
Chr20:44523782 [GRCh37]
Chr20:20q13.12
benign
NM_000308.4(CTSA):c.769G>A (p.Val257Met) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV000400530] Chr20:45894064 [GRCh38]
Chr20:44522703 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.693-3C>T AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV000400859] Chr20:45893985 [GRCh38]
Chr20:44522624 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.948+7G>A single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV000262630]|not provided [RCV000675497]|not specified [RCV000455803] Chr20:45894908 [GRCh38]
Chr20:44523547 [GRCh37]
Chr20:20q13.12
benign
NM_080749.4(NEURL2):c.-163T>G AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV000265245] Chr20:45891154 [GRCh38]
Chr20:44519793 [GRCh37]
Chr20:20q13.12
likely benign
NM_000308.4(CTSA):c.793C>T (p.Arg265Cys) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV000302158] Chr20:45894665 [GRCh38]
Chr20:44523304 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.219C>G (p.Pro73=) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV000348464]|not provided [RCV000675495] Chr20:45891940 [GRCh38]
Chr20:44520579 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_001127695.2(CTSA):c.-152G>A AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV000318003] Chr20:45891274 [GRCh38]
Chr20:44519913 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.1353G>A (p.Thr451=) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV000389772]|not provided [RCV000675500] Chr20:45898103 [GRCh38]
Chr20:44526742 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_080749.4(NEURL2):c.-43A>G AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV000390404] Chr20:45891034 [GRCh38]
Chr20:44519673 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_080749.4(NEURL2):c.-64C>T AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV000306763] Chr20:45891055 [GRCh38]
Chr20:44519694 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.1059G>A (p.Pro353=) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV000353997] Chr20:45895104 [GRCh38]
Chr20:44523743 [GRCh37]
Chr20:20q13.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000308.4(CTSA):c.807C>G (p.Asn269Lys) single nucleotide variant not provided [RCV000523857] Chr20:45894679 [GRCh38]
Chr20:44523318 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_080749.4(NEURL2):c.-92del AND Combined deficiency of sialidase deletion Combined deficiency of sialidase AND beta galactosidase [RCV000363584] Chr20:45891083 [GRCh38]
Chr20:44519722 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.195-7dup AND Combined deficiency of sialidase duplication Combined deficiency of sialidase AND beta galactosidase [RCV000295944] Chr20:45891903..45891904 [GRCh38]
Chr20:44520542..44520543 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.319G>A (p.Gly107Ser) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV000393335] Chr20:45892285 [GRCh38]
Chr20:44520924 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.626CCT[1] (p.Ser210del) microsatellite not provided [RCV000590303] Chr20:45893243..45893245 [GRCh38]
Chr20:44521882..44521884 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.1164+7G>A AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001138450] Chr20:45897047 [GRCh38]
Chr20:44525686 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.33GCT[6] (p.Leu18_Leu19del) AND Combined deficiency of sialidase microsatellite Combined deficiency of sialidase AND beta galactosidase [RCV000540896] Chr20:45891599..45891604 [GRCh38]
Chr20:44520238..44520243 [GRCh37]
Chr20:20q13.12
benign
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33
pathogenic
NM_000308.4(CTSA):c.1009G>C (p.Ala337Pro) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV000634565] Chr20:45895054 [GRCh38]
Chr20:44523693 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.32_33del (p.Leu11fs) deletion not provided [RCV000675489] Chr20:45891600..45891601 [GRCh38]
Chr20:44520239..44520240 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.870-15del AND Combined deficiency of sialidase deletion Combined deficiency of sialidase AND beta galactosidase [RCV001522270]|not provided [RCV000675496] Chr20:45894804 [GRCh38]
Chr20:44523443 [GRCh37]
Chr20:20q13.12
benign
NM_000308.4(CTSA):c.1360-27C>T single nucleotide variant not provided [RCV000675501] Chr20:45898340 [GRCh38]
Chr20:44526979 [GRCh37]
Chr20:20q13.12
likely benign
NM_000308.4(CTSA):c.51del (p.Leu18fs) AND Combined deficiency of sialidase deletion Combined deficiency of sialidase AND beta galactosidase [RCV001868284]|not provided [RCV000675490] Chr20:45891619 [GRCh38]
Chr20:44520258 [GRCh37]
Chr20:20q13.12
likely benign|uncertain significance
NM_000308.4(CTSA):c.53_54del (p.Leu18fs) deletion not provided [RCV000675491] Chr20:45891621..45891622 [GRCh38]
Chr20:44520260..44520261 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_000308.4(CTSA):c.1255-25G>T single nucleotide variant not provided [RCV000675499] Chr20:45897980 [GRCh38]
Chr20:44526619 [GRCh37]
Chr20:20q13.12
likely benign
NM_000308.4(CTSA):c.115C>G (p.Pro39Ala) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV000690394] Chr20:45891683 [GRCh38]
Chr20:44520322 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.1089-3C>A AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV000694148] Chr20:45896962 [GRCh38]
Chr20:44525601 [GRCh37]
Chr20:20q13.12
uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33
pathogenic
NM_000308.4(CTSA):c.1165-284G>A single nucleotide variant not provided [RCV001691283] Chr20:45897433 [GRCh38]
Chr20:44526072 [GRCh37]
Chr20:20q13.12
benign
NM_000308.4(CTSA):c.778-41T>C single nucleotide variant not provided [RCV001681335] Chr20:45894609 [GRCh38]
Chr20:44523248 [GRCh37]
Chr20:20q13.12
benign
NM_000308.4(CTSA):c.777+91G>A single nucleotide variant not provided [RCV001679679] Chr20:45894163 [GRCh38]
Chr20:44522802 [GRCh37]
Chr20:20q13.12
benign
NM_000308.4(CTSA):c.-17G>A AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001855953]|not provided [RCV000762345] Chr20:45891363 [GRCh38]
Chr20:44520002 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.880G>A (p.Asp294Asn) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001086926]|not provided [RCV000762346] Chr20:45894833 [GRCh38]
Chr20:44523472 [GRCh37]
Chr20:20q13.12
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000308.4(CTSA):c.195G>A (p.Trp65Ter) single nucleotide variant not provided [RCV000760507] Chr20:45891916 [GRCh38]
Chr20:44520555 [GRCh37]
Chr20:20q13.12
pathogenic
NM_000308.4(CTSA):c.977G>A (p.Arg326His) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001043823] Chr20:45895022 [GRCh38]
Chr20:44523661 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.1356C>A (p.Ile452=) single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001491858]|not provided [RCV000925041] Chr20:45898106 [GRCh38]
Chr20:44526745 [GRCh37]
Chr20:20q13.12
likely benign
NM_000308.4(CTSA):c.934C>T (p.Arg312Trp) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001039101] Chr20:45894887 [GRCh38]
Chr20:44523526 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.768C>A (p.Cys256Ter) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV000779348] Chr20:45894063 [GRCh38]
Chr20:44522702 [GRCh37]
Chr20:20q13.12
conflicting interpretations of pathogenicity|uncertain significance
NM_000308.4(CTSA):c.1062G>A (p.Glu354=) single nucleotide variant not specified [RCV000780205] Chr20:45895107 [GRCh38]
Chr20:44523746 [GRCh37]
Chr20:20q13.12
likely benign|uncertain significance
NM_000308.4(CTSA):c.54G>T (p.Leu18=) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV000980471] Chr20:45891622 [GRCh38]
Chr20:44520261 [GRCh37]
Chr20:20q13.12
likely benign
NM_000308.4(CTSA):c.1287G>A (p.Lys429=) single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV000951351]|not provided [RCV001796326] Chr20:45898037 [GRCh38]
Chr20:44526676 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_000308.4(CTSA):c.33GCT[9] (p.Leu19dup) AND Combined deficiency of sialidase microsatellite Combined deficiency of sialidase AND beta galactosidase [RCV000954191]|not specified [RCV000780204] Chr20:45891598..45891599 [GRCh38]
Chr20:44520237..44520238 [GRCh37]
Chr20:20q13.12
benign
NM_000308.4(CTSA):c.-6G>A AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV000813930] Chr20:45891374 [GRCh38]
Chr20:44520013 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.693-33A>G AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001664483]|not provided [RCV000843807] Chr20:45893955 [GRCh38]
Chr20:44522594 [GRCh37]
Chr20:20q13.12
benign
NM_000308.4(CTSA):c.777+242C>T single nucleotide variant not provided [RCV000843808] Chr20:45894314 [GRCh38]
Chr20:44522953 [GRCh37]
Chr20:20q13.12
benign
NM_000308.4(CTSA):c.1359+35G>A AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001664456]|not provided [RCV000831208] Chr20:45898144 [GRCh38]
Chr20:44526783 [GRCh37]
Chr20:20q13.12
benign
NM_000308.4(CTSA):c.980T>C (p.Met327Thr) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001138029] Chr20:45895025 [GRCh38]
Chr20:44523664 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.533G>C (p.Ser178Thr) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001069049] Chr20:45892813 [GRCh38]
Chr20:44521452 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.359T>C (p.Ile120Thr) single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001858863]|not provided [RCV000997778]|not specified [RCV001805964] Chr20:45892399 [GRCh38]
Chr20:44521038 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.1352C>A (p.Thr451Lys) single nucleotide variant not provided [RCV000997779] Chr20:45898102 [GRCh38]
Chr20:44526741 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.601-2A>G AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV000985155] Chr20:45893218 [GRCh38]
Chr20:44521857 [GRCh37]
Chr20:20q13.12
likely pathogenic
NM_000308.4(CTSA):c.735del (p.Lys245fs) deletion not provided [RCV001009138] Chr20:45894030 [GRCh38]
Chr20:44522669 [GRCh37]
Chr20:20q13.12
pathogenic
NM_000308.4(CTSA):c.1043A>C (p.Lys348Thr) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001233424] Chr20:45895088 [GRCh38]
Chr20:44523727 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.67G>A (p.Ala23Thr) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001224139] Chr20:45891635 [GRCh38]
Chr20:44520274 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.736T>C (p.Cys246Arg) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001196007] Chr20:45894031 [GRCh38]
Chr20:44522670 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.869+1G>C AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001241786] Chr20:45894742 [GRCh38]
Chr20:44523381 [GRCh37]
Chr20:20q13.12
likely pathogenic
NM_000308.4(CTSA):c.874G>C (p.Glu292Gln) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001242354] Chr20:45894827 [GRCh38]
Chr20:44523466 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.73C>T (p.Arg25Ter) single nucleotide variant not provided [RCV001172144] Chr20:45891641 [GRCh38]
Chr20:44520280 [GRCh37]
Chr20:20q13.12
likely pathogenic
NM_000308.4(CTSA):c.1255-57G>A single nucleotide variant not provided [RCV001687064] Chr20:45897948 [GRCh38]
Chr20:44526587 [GRCh37]
Chr20:20q13.12
benign
NM_000308.4(CTSA):c.692+189dup duplication not provided [RCV001540236] Chr20:45893486..45893487 [GRCh38]
Chr20:44522125..44522126 [GRCh37]
Chr20:20q13.12
benign
NM_000308.4(CTSA):c.948+5G>A AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001227519] Chr20:45894906 [GRCh38]
Chr20:44523545 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.448G>A (p.Ala150Thr) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001142770] Chr20:45892728 [GRCh38]
Chr20:44521367 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.692+13G>A AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001142772] Chr20:45893324 [GRCh38]
Chr20:44521963 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.1361G>T (p.Gly454Val) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001206958] Chr20:45898368 [GRCh38]
Chr20:44527007 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.778-155G>A single nucleotide variant not provided [RCV001561773] Chr20:45894495 [GRCh38]
Chr20:44523134 [GRCh37]
Chr20:20q13.12
likely benign
NM_000308.4(CTSA):c.1089-131del deletion not provided [RCV001669510] Chr20:45896826 [GRCh38]
Chr20:44525465 [GRCh37]
Chr20:20q13.12
benign
NM_000308.4(CTSA):c.444+14C>T AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001142769]|not provided [RCV001577325] Chr20:45892498 [GRCh38]
Chr20:44521137 [GRCh37]
Chr20:20q13.12
benign|likely benign
NM_000308.4(CTSA):c.574A>C (p.Met192Leu) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001142771] Chr20:45892854 [GRCh38]
Chr20:44521493 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.*51C>G AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001141018] Chr20:45898501 [GRCh38]
Chr20:44527140 [GRCh37]
Chr20:20q13.12
likely benign
NM_000308.4(CTSA):c.692+55A>G single nucleotide variant not provided [RCV001694781] Chr20:45893366 [GRCh38]
Chr20:44522005 [GRCh37]
Chr20:20q13.12
benign
NM_000308.4(CTSA):c.1165-233G>A single nucleotide variant not provided [RCV001616584] Chr20:45897484 [GRCh38]
Chr20:44526123 [GRCh37]
Chr20:20q13.12
benign
NM_000308.4(CTSA):c.1164+156A>C single nucleotide variant not provided [RCV001614798] Chr20:45897196 [GRCh38]
Chr20:44525835 [GRCh37]
Chr20:20q13.12
benign
NM_000308.4(CTSA):c.1342G>A (p.Ala448Thr) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001138451] Chr20:45898092 [GRCh38]
Chr20:44526731 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.265A>C (p.Ser89Arg) single nucleotide variant not provided [RCV001200149] Chr20:45891986 [GRCh38]
Chr20:44520625 [GRCh37]
Chr20:20q13.12
uncertain significance
Single allele deletion Focal-onset seizure [RCV001004039] Chr20:34980430..46806549 [GRCh37]
Chr20:20q11.23-13.13
likely pathogenic
NM_000308.4(CTSA):c.990dup (p.Cys331fs) AND Combined deficiency of sialidase duplication Combined deficiency of sialidase AND beta galactosidase [RCV001174733] Chr20:45895028..45895029 [GRCh38]
Chr20:44523667..44523668 [GRCh37]
Chr20:20q13.12
pathogenic
NM_000308.4(CTSA):c.357+3A>G AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001048420] Chr20:45892326 [GRCh38]
Chr20:44520965 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.*50C>T AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001141017] Chr20:45898500 [GRCh38]
Chr20:44527139 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.1031C>T (p.Pro344Leu) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001138030] Chr20:45895076 [GRCh38]
Chr20:44523715 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.724T>A (p.Ser242Thr) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001215636] Chr20:45894019 [GRCh38]
Chr20:44522658 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.1435C>G (p.Pro479Ala) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001251048] Chr20:45898442 [GRCh38]
Chr20:44527081 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.497del (p.Glu166fs) AND Combined deficiency of sialidase deletion Combined deficiency of sialidase AND beta galactosidase [RCV001251047] Chr20:45892777 [GRCh38]
Chr20:44521416 [GRCh37]
Chr20:20q13.12
pathogenic
NM_000308.4(CTSA):c.445-18_447del deletion Seizure [RCV001255119] Chr20:45892704..45892724 [GRCh38]
Chr20:44521343..44521363 [GRCh37]
Chr20:20q13.12
likely pathogenic
NM_000308.4(CTSA):c.425A>G (p.Tyr142Cys) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV002005219] Chr20:45892465 [GRCh38]
Chr20:44521104 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.112del (p.Leu38fs) AND Combined deficiency of sialidase deletion Combined deficiency of sialidase AND beta galactosidase [RCV001260321] Chr20:45891679 [GRCh38]
Chr20:44520318 [GRCh37]
Chr20:20q13.12
likely pathogenic
NM_000308.4(CTSA):c.1088+3G>A AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001317216] Chr20:45895136 [GRCh38]
Chr20:44523775 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.1039C>T (p.Arg347Trp) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001308237] Chr20:45895084 [GRCh38]
Chr20:44523723 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.60del (p.Ser21fs) AND Combined deficiency of sialidase deletion Combined deficiency of sialidase AND beta galactosidase [RCV001420871] Chr20:45891628 [GRCh38]
Chr20:44520267 [GRCh37]
Chr20:20q13.12
pathogenic
NM_000308.4(CTSA):c.54del (p.Leu18_Leu19insTer) AND Combined deficiency of sialidase deletion Combined deficiency of sialidase AND beta galactosidase [RCV001780895] Chr20:45891622 [GRCh38]
Chr20:44520261 [GRCh37]
Chr20:20q13.12
pathogenic|likely pathogenic
NM_000308.4(CTSA):c.1074A>T (p.Gln358His) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001295004] Chr20:45895119 [GRCh38]
Chr20:44523758 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.830T>C (p.Leu277Pro) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001323143] Chr20:45894702 [GRCh38]
Chr20:44523341 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.1409T>C (p.Met470Thr) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001322582] Chr20:45898416 [GRCh38]
Chr20:44527055 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.541G>A (p.Gly181Ser) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001780896] Chr20:45892821 [GRCh38]
Chr20:44521460 [GRCh37]
Chr20:20q13.12
likely pathogenic
NM_000308.4(CTSA):c.1035C>G (p.Tyr345Ter) single nucleotide variant not provided [RCV001507465] Chr20:45895080 [GRCh38]
Chr20:44523719 [GRCh37]
Chr20:20q13.12
likely pathogenic
NM_000308.4(CTSA):c.991del (p.Cys331fs) AND Combined deficiency of sialidase deletion Combined deficiency of sialidase AND beta galactosidase [RCV001386979] Chr20:45895036 [GRCh38]
Chr20:44523675 [GRCh37]
Chr20:20q13.12
pathogenic
NM_000308.4(CTSA):c.414T>C (p.Asp138=) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001418642] Chr20:45892454 [GRCh38]
Chr20:44521093 [GRCh37]
Chr20:20q13.12
likely benign
NM_000308.4(CTSA):c.1123C>T (p.Arg375Ter) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001380689] Chr20:45896999 [GRCh38]
Chr20:44525638 [GRCh37]
Chr20:20q13.12
pathogenic
NM_000308.4(CTSA):c.201G>A (p.Val67=) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001394034] Chr20:45891922 [GRCh38]
Chr20:44520561 [GRCh37]
Chr20:20q13.12
likely benign
NM_000308.4(CTSA):c.444+114T>C single nucleotide variant not provided [RCV001583859] Chr20:45892598 [GRCh38]
Chr20:44521237 [GRCh37]
Chr20:20q13.12
likely benign
NM_000308.4(CTSA):c.1089-236G>C single nucleotide variant not provided [RCV001530694] Chr20:45896729 [GRCh38]
Chr20:44525368 [GRCh37]
Chr20:20q13.12
benign
NM_000308.4(CTSA):c.948+13G>T AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001522124] Chr20:45894914 [GRCh38]
Chr20:44523553 [GRCh37]
Chr20:20q13.12
benign
NM_000308.4(CTSA):c.1104dup (p.Gln369fs) AND Combined deficiency of sialidase duplication Combined deficiency of sialidase AND beta galactosidase [RCV001780592] Chr20:45896979..45896980 [GRCh38]
Chr20:44525618..44525619 [GRCh37]
Chr20:20q13.12
pathogenic
NM_000308.4(CTSA):c.744C>G (p.Phe248Leu) single nucleotide variant not provided [RCV001762994] Chr20:45894039 [GRCh38]
Chr20:44522678 [GRCh37]
Chr20:20q13.12
uncertain significance
GRCh37/hg19 20q13.12-13.13(chr20:42985044-48599046)x1 copy number loss Developmental and epileptic encephalopathy, 26 [RCV001801198] Chr20:42985044..48599046 [GRCh37]
Chr20:20q13.12-13.13
pathogenic
NM_000308.4(CTSA):c.946C>T (p.Gln316Ter) single nucleotide variant Abnormality of prenatal development or birth [RCV001814438] Chr20:45894899 [GRCh38]
Chr20:44523538 [GRCh37]
Chr20:20q13.12
likely pathogenic
NM_000308.4(CTSA):c.1040G>A (p.Arg347Gln) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001990384] Chr20:45895085 [GRCh38]
Chr20:44523724 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.130C>T (p.Gln44Ter) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV002037786] Chr20:45891698 [GRCh38]
Chr20:44520337 [GRCh37]
Chr20:20q13.12
pathogenic
NM_000308.4(CTSA):c.74G>A (p.Arg25Gln) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001878032] Chr20:45891642 [GRCh38]
Chr20:44520281 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.1270C>T (p.Arg424Trp) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV002014334] Chr20:45898020 [GRCh38]
Chr20:44526659 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.388G>C (p.Ala130Pro) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001866859] Chr20:45892428 [GRCh38]
Chr20:44521067 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.160C>T (p.Leu54Phe) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001864892] Chr20:45891728 [GRCh38]
Chr20:44520367 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.-1+6C>A AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV002047339] Chr20:45891385 [GRCh38]
Chr20:44520024 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.257C>T (p.Pro86Leu) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV002022929] Chr20:45891978 [GRCh38]
Chr20:44520617 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.1195G>A (p.Val399Ile) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV002047404] Chr20:45897747 [GRCh38]
Chr20:44526386 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.1111C>T (p.Arg371Cys) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV002033521] Chr20:45896987 [GRCh38]
Chr20:44525626 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.33GCT[4] (p.Leu16_Leu19del) AND Combined deficiency of sialidase microsatellite Combined deficiency of sialidase AND beta galactosidase [RCV002041453] Chr20:45891599..45891610 [GRCh38]
Chr20:44520238..44520249 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.-15C>T AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV002010262] Chr20:45891365 [GRCh38]
Chr20:44520004 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.1089-4G>T AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV002012871] Chr20:45896961 [GRCh38]
Chr20:44525600 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.521T>C (p.Leu174Pro) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001847318] Chr20:45892801 [GRCh38]
Chr20:44521440 [GRCh37]
Chr20:20q13.12
likely pathogenic
NM_000308.4(CTSA):c.869+9T>G AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV002020356] Chr20:45894750 [GRCh38]
Chr20:44523389 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.1268G>A (p.Arg423His) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV002011879] Chr20:45898018 [GRCh38]
Chr20:44526657 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.91G>A (p.Asp31Asn) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV002003628] Chr20:45891659 [GRCh38]
Chr20:44520298 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.254G>T (p.Gly85Val) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV002014333] Chr20:45891975 [GRCh38]
Chr20:44520614 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.33GCT[10] (p.Leu18_Leu19dup) AND Combined deficiency of sialidase microsatellite Combined deficiency of sialidase AND beta galactosidase [RCV002049270] Chr20:45891598..45891599 [GRCh38]
Chr20:44520237..44520238 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.1088+5G>C AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001928497] Chr20:45895138 [GRCh38]
Chr20:44523777 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.-12G>C AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001958014] Chr20:45891368 [GRCh38]
Chr20:44520007 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.919C>T (p.Arg307Cys) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001880714] Chr20:45894872 [GRCh38]
Chr20:44523511 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.33GCT[11] (p.Leu17_Leu19dup) AND Combined deficiency of sialidase microsatellite Combined deficiency of sialidase AND beta galactosidase [RCV001885822] Chr20:45891598..45891599 [GRCh38]
Chr20:44520237..44520238 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.594C>A (p.Asn198Lys) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001952737] Chr20:45892874 [GRCh38]
Chr20:44521513 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.-18G>C AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001895632] Chr20:45891362 [GRCh38]
Chr20:44520001 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.1343C>T (p.Ala448Val) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001924899] Chr20:45898093 [GRCh38]
Chr20:44526732 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.194+3C>T AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001894038] Chr20:45891765 [GRCh38]
Chr20:44520404 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.1247A>G (p.Asn416Ser) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001897444] Chr20:45897799 [GRCh38]
Chr20:44526438 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.877A>G (p.Lys293Glu) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001903773] Chr20:45894830 [GRCh38]
Chr20:44523469 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.920G>A (p.Arg307His) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001903729] Chr20:45894873 [GRCh38]
Chr20:44523512 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.692+6G>A AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001905137] Chr20:45893317 [GRCh38]
Chr20:44521956 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.1152G>T (p.Leu384=) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001932103] Chr20:45897028 [GRCh38]
Chr20:44525667 [GRCh37]
Chr20:20q13.12
likely benign
NM_000308.4(CTSA):c.380A>T (p.Glu127Val) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001960813] Chr20:45892420 [GRCh38]
Chr20:44521059 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.799G>A (p.Val267Met) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001879289] Chr20:45894671 [GRCh38]
Chr20:44523310 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.110G>C (p.Arg37Pro) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001910128] Chr20:45891678 [GRCh38]
Chr20:44520317 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.53T>G (p.Leu18Arg) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001935413] Chr20:45891621 [GRCh38]
Chr20:44520260 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.33GCT[5] (p.Leu17_Leu19del) AND Combined deficiency of sialidase microsatellite Combined deficiency of sialidase AND beta galactosidase [RCV001891952] Chr20:45891599..45891607 [GRCh38]
Chr20:44520238..44520246 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.97G>A (p.Asp33Asn) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001980571] Chr20:45891665 [GRCh38]
Chr20:44520304 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.-41C>T AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001893689] Chr20:45891339 [GRCh38]
Chr20:44519978 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.755A>G (p.Lys252Arg) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001898384] Chr20:45894050 [GRCh38]
Chr20:44522689 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.938T>C (p.Met313Thr) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001930365] Chr20:45894891 [GRCh38]
Chr20:44523530 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.233T>C (p.Val78Ala) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001930359] Chr20:45891954 [GRCh38]
Chr20:44520593 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.777+20T>C AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001905574] Chr20:45894092 [GRCh38]
Chr20:44522731 [GRCh37]
Chr20:20q13.12
likely benign
NM_000308.4(CTSA):c.1231T>C (p.Phe411Leu) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001907581] Chr20:45897783 [GRCh38]
Chr20:44526422 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.1-2A>G AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001972441] Chr20:45891567 [GRCh38]
Chr20:44520206 [GRCh37]
Chr20:20q13.12
pathogenic
NM_000308.4(CTSA):c.869+20C>T AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001975289] Chr20:45894761 [GRCh38]
Chr20:44523400 [GRCh37]
Chr20:20q13.12
likely benign
NM_000308.4(CTSA):c.-43T>A AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001888886] Chr20:45891337 [GRCh38]
Chr20:44519976 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.1081A>G (p.Met361Val) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001921166] Chr20:45895126 [GRCh38]
Chr20:44523765 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.600+3G>A AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001978277] Chr20:45892883 [GRCh38]
Chr20:44521522 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.1254+6del AND Combined deficiency of sialidase deletion Combined deficiency of sialidase AND beta galactosidase [RCV001891380] Chr20:45897811 [GRCh38]
Chr20:44526450 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.985C>G (p.Pro329Ala) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001918443] Chr20:45895030 [GRCh38]
Chr20:44523669 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.948G>A (p.Gln316=) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001938854] Chr20:45894901 [GRCh38]
Chr20:44523540 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.365A>G (p.Asn122Ser) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001978847] Chr20:45892405 [GRCh38]
Chr20:44521044 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.248A>G (p.Asn83Ser) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001899639] Chr20:45891969 [GRCh38]
Chr20:44520608 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.11C>G (p.Ala4Gly) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001981804] Chr20:45891579 [GRCh38]
Chr20:44520218 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.1382C>A (p.Thr461Asn) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001925271] Chr20:45898389 [GRCh38]
Chr20:44527028 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.1073A>C (p.Gln358Pro) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001928496] Chr20:45895118 [GRCh38]
Chr20:44523757 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.985C>A (p.Pro329Thr) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV001948717] Chr20:45895030 [GRCh38]
Chr20:44523669 [GRCh37]
Chr20:20q13.12
uncertain significance
NM_000308.4(CTSA):c.601-17C>A AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV002196723] Chr20:45893203 [GRCh38]
Chr20:44521842 [GRCh37]
Chr20:20q13.12
likely benign
NM_000308.4(CTSA):c.869+14G>A AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV002202195] Chr20:45894755 [GRCh38]
Chr20:44523394 [GRCh37]
Chr20:20q13.12
likely benign
NM_000308.4(CTSA):c.1089-5G>A AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV002209136] Chr20:45896960 [GRCh38]
Chr20:44525599 [GRCh37]
Chr20:20q13.12
likely benign
NM_000308.4(CTSA):c.1255-14T>C AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV002212243] Chr20:45897991 [GRCh38]
Chr20:44526630 [GRCh37]
Chr20:20q13.12
likely benign
NM_000308.4(CTSA):c.600+15C>T AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV002213847] Chr20:45892895 [GRCh38]
Chr20:44521534 [GRCh37]
Chr20:20q13.12
likely benign
NM_000308.4(CTSA):c.840G>A (p.Pro280=) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV002097462] Chr20:45894712 [GRCh38]
Chr20:44523351 [GRCh37]
Chr20:20q13.12
likely benign
NM_000308.4(CTSA):c.55_57del (p.Leu19del) AND Combined deficiency of sialidase deletion Combined deficiency of sialidase AND beta galactosidase [RCV002219943] Chr20:45891623..45891625 [GRCh38]
Chr20:44520262..44520264 [GRCh37]
Chr20:20q13.12
likely benign
NM_000308.4(CTSA):c.777+11G>A AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV002145585] Chr20:45894083 [GRCh38]
Chr20:44522722 [GRCh37]
Chr20:20q13.12
likely benign
NM_000308.4(CTSA):c.603G>A (p.Gly201=) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV002111999] Chr20:45893222 [GRCh38]
Chr20:44521861 [GRCh37]
Chr20:20q13.12
likely benign
NM_000308.4(CTSA):c.291G>A (p.Glu97=) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV002105010] Chr20:45892012 [GRCh38]
Chr20:44520651 [GRCh37]
Chr20:20q13.12
likely benign
NM_000308.4(CTSA):c.445-19C>T AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV002105929] Chr20:45892706 [GRCh38]
Chr20:44521345 [GRCh37]
Chr20:20q13.12
likely benign
NM_000308.4(CTSA):c.195-7C>T AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV002109561] Chr20:45891909 [GRCh38]
Chr20:44520548 [GRCh37]
Chr20:20q13.12
likely benign
NM_000308.4(CTSA):c.1290C>T (p.Tyr430=) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV002149708] Chr20:45898040 [GRCh38]
Chr20:44526679 [GRCh37]
Chr20:20q13.12
likely benign
NM_000308.4(CTSA):c.960C>T (p.Arg320=) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV002141718] Chr20:45895005 [GRCh38]
Chr20:44523644 [GRCh37]
Chr20:20q13.12
likely benign
NM_000308.4(CTSA):c.1320C>T (p.Phe440=) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV002142056] Chr20:45898070 [GRCh38]
Chr20:44526709 [GRCh37]
Chr20:20q13.12
likely benign
NM_000308.4(CTSA):c.693-11_693-9del AND Combined deficiency of sialidase deletion Combined deficiency of sialidase AND beta galactosidase [RCV002136935] Chr20:45893975..45893977 [GRCh38]
Chr20:44522614..44522616 [GRCh37]
Chr20:20q13.12
benign
NM_000308.4(CTSA):c.444+18C>T AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV002076117] Chr20:45892502 [GRCh38]
Chr20:44521141 [GRCh37]
Chr20:20q13.12
likely benign
NM_000308.4(CTSA):c.1425G>C (p.Leu475=) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV002165770] Chr20:45898432 [GRCh38]
Chr20:44527071 [GRCh37]
Chr20:20q13.12
likely benign
NM_000308.4(CTSA):c.1341C>T (p.Ile447=) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV002205907] Chr20:45898091 [GRCh38]
Chr20:44526730 [GRCh37]
Chr20:20q13.12
likely benign
NM_000308.4(CTSA):c.600+14_600+15insGG AND Combined deficiency of sialidase insertion Combined deficiency of sialidase AND beta galactosidase [RCV002091046] Chr20:45892893..45892894 [GRCh38]
Chr20:44521532..44521533 [GRCh37]
Chr20:20q13.12
likely benign
NM_000308.4(CTSA):c.246C>A (p.Leu82=) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV002183104] Chr20:45891967 [GRCh38]
Chr20:44520606 [GRCh37]
Chr20:20q13.12
likely benign
NM_000308.4(CTSA):c.1368C>G (p.Gly456=) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV002105230] Chr20:45898375 [GRCh38]
Chr20:44527014 [GRCh37]
Chr20:20q13.12
likely benign
NM_000308.4(CTSA):c.-13C>A AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV002105867] Chr20:45891367 [GRCh38]
Chr20:44520006 [GRCh37]
Chr20:20q13.12
likely benign
NM_000308.4(CTSA):c.219C>T (p.Pro73=) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV002117664] Chr20:45891940 [GRCh38]
Chr20:44520579 [GRCh37]
Chr20:20q13.12
likely benign
NM_000308.4(CTSA):c.114C>G (p.Leu38=) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV002119663] Chr20:45891682 [GRCh38]
Chr20:44520321 [GRCh37]
Chr20:20q13.12
likely benign
NM_000308.4(CTSA):c.1101C>T (p.Asn367=) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV002137167] Chr20:45896977 [GRCh38]
Chr20:44525616 [GRCh37]
Chr20:20q13.12
likely benign
NM_000308.4(CTSA):c.568C>T (p.Leu190=) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV002175289] Chr20:45892848 [GRCh38]
Chr20:44521487 [GRCh37]
Chr20:20q13.12
likely benign
NM_000308.4(CTSA):c.1110C>T (p.Tyr370=) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV002163204] Chr20:45896986 [GRCh38]
Chr20:44525625 [GRCh37]
Chr20:20q13.12
likely benign
NM_000308.4(CTSA):c.495G>A (p.Pro165=) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV002176551] Chr20:45892775 [GRCh38]
Chr20:44521414 [GRCh37]
Chr20:20q13.12
likely benign
NM_000308.4(CTSA):c.741C>T (p.Asn247=) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV002098369] Chr20:45894036 [GRCh38]
Chr20:44522675 [GRCh37]
Chr20:20q13.12
likely benign
NM_000308.4(CTSA):c.885T>C (p.Thr295=) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV002206971] Chr20:45894838 [GRCh38]
Chr20:44523477 [GRCh37]
Chr20:20q13.12
likely benign
NM_000308.4(CTSA):c.564C>T (p.Ala188=) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV002131640] Chr20:45892844 [GRCh38]
Chr20:44521483 [GRCh37]
Chr20:20q13.12
likely benign
NM_000308.4(CTSA):c.285C>G (p.Leu95=) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV002170203] Chr20:45892006 [GRCh38]
Chr20:44520645 [GRCh37]
Chr20:20q13.12
likely benign
NM_000308.4(CTSA):c.987C>T (p.Pro329=) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV002183046] Chr20:45895032 [GRCh38]
Chr20:44523671 [GRCh37]
Chr20:20q13.12
likely benign
NM_000308.4(CTSA):c.870-15C>T AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV002083657] Chr20:45894808 [GRCh38]
Chr20:44523447 [GRCh37]
Chr20:20q13.12
likely benign
NM_000308.4(CTSA):c.525C>T (p.Thr175=) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV002119798] Chr20:45892805 [GRCh38]
Chr20:44521444 [GRCh37]
Chr20:20q13.12
likely benign
NM_000308.4(CTSA):c.1365C>T (p.Ala455=) AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV002125966] Chr20:45898372 [GRCh38]
Chr20:44527011 [GRCh37]
Chr20:20q13.12
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9251 AgrOrtholog
COSMIC CTSA COSMIC
Ensembl Genes ENSG00000064601 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000191018 ENTREZGENE
  ENSP00000191018.5 UniProtKB/Swiss-Prot
  ENSP00000346952 ENTREZGENE
  ENSP00000346952.4 UniProtKB/TrEMBL
  ENSP00000361537.2 UniProtKB/Swiss-Prot
  ENSP00000361562.3 UniProtKB/TrEMBL
  ENSP00000408533.3 UniProtKB/TrEMBL
  ENSP00000475524 UniProtKB/TrEMBL
  ENSP00000475524.2 UniProtKB/Swiss-Prot
  ENSP00000475827.1 UniProtKB/TrEMBL
  ENSP00000476235.1 UniProtKB/TrEMBL
  ENSP00000493613 ENTREZGENE
  ENSP00000493613.2 UniProtKB/Swiss-Prot
  ENSP00000502866.1 UniProtKB/TrEMBL
  ENSP00000502993.1 UniProtKB/TrEMBL
  ENSP00000503404.1 UniProtKB/TrEMBL
  ENSP00000503463.1 UniProtKB/TrEMBL
  ENSP00000503904.1 UniProtKB/TrEMBL
  ENSP00000504006.1 UniProtKB/TrEMBL
  ENSP00000504109.1 UniProtKB/TrEMBL
  ENSP00000504158.1 UniProtKB/TrEMBL
  ENSP00000504197.1 UniProtKB/TrEMBL
  ENSP00000504209.1 UniProtKB/TrEMBL
  ENSP00000504524.1 UniProtKB/TrEMBL
  ENSP00000504790.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000191018 ENTREZGENE
  ENST00000191018.9 UniProtKB/Swiss-Prot
  ENST00000354880 ENTREZGENE
  ENST00000354880.9 UniProtKB/TrEMBL
  ENST00000372459.7 UniProtKB/Swiss-Prot
  ENST00000372484.8 UniProtKB/TrEMBL
  ENST00000419493.3 UniProtKB/TrEMBL
  ENST00000606394.6 UniProtKB/TrEMBL
  ENST00000606788.5 UniProtKB/TrEMBL
  ENST00000607482 UniProtKB/TrEMBL
  ENST00000607482.6 UniProtKB/Swiss-Prot
  ENST00000646241 ENTREZGENE
  ENST00000646241.3 UniProtKB/Swiss-Prot
  ENST00000676526.1 UniProtKB/TrEMBL
  ENST00000676597.1 UniProtKB/TrEMBL
  ENST00000676657.1 UniProtKB/TrEMBL
  ENST00000676967.1 UniProtKB/TrEMBL
  ENST00000677394.1 UniProtKB/TrEMBL
  ENST00000677525 ENTREZGENE
  ENST00000677525.1 UniProtKB/TrEMBL
  ENST00000678025.1 UniProtKB/TrEMBL
  ENST00000678078.1 UniProtKB/TrEMBL
  ENST00000678217.1 UniProtKB/TrEMBL
  ENST00000678331.1 UniProtKB/TrEMBL
  ENST00000678443.1 UniProtKB/TrEMBL
  ENST00000678939.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.1820 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000064601 GTEx
HGNC ID HGNC:9251 ENTREZGENE
Human Proteome Map CTSA Human Proteome Map
InterPro AB_hydrolase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser_caboxypep_his_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser_caboxypep_ser_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5476 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5476 ENTREZGENE
OMIM 256540 OMIM
  613111 OMIM
PANTHER PTHR11802 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Peptidase_S10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33572 PharmGKB
PRINTS CRBOXYPTASEC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CARBOXYPEPT_SER_HIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CARBOXYPEPT_SER_SER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53474 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A7I2V2E2_HUMAN UniProtKB/TrEMBL
  A0A7I2V3B2_HUMAN UniProtKB/TrEMBL
  A0A7I2V3M2_HUMAN UniProtKB/TrEMBL
  A0A7I2V4D1_HUMAN UniProtKB/TrEMBL
  A0A7I2V4K5_HUMAN UniProtKB/TrEMBL
  A0A7I2V4Q9_HUMAN UniProtKB/TrEMBL
  A0A7I2V4R8_HUMAN UniProtKB/TrEMBL
  A0A7I2V504_HUMAN UniProtKB/TrEMBL
  A0A7I2YQT8_HUMAN UniProtKB/TrEMBL
  B4E324_HUMAN UniProtKB/TrEMBL
  L8E8P5_HUMAN UniProtKB/TrEMBL
  P10619 ENTREZGENE, UniProtKB/Swiss-Prot
  Q5JZH0_HUMAN UniProtKB/TrEMBL
  U3KQ41_HUMAN UniProtKB/TrEMBL
  U3KQF1_HUMAN UniProtKB/TrEMBL
  U3KQU6_HUMAN UniProtKB/TrEMBL
  X6R5C5_HUMAN UniProtKB/TrEMBL
  X6R8A1_HUMAN UniProtKB/TrEMBL
UniProt Secondary B2R798 UniProtKB/Swiss-Prot
  Q561W6 UniProtKB/Swiss-Prot
  Q5JZH1 UniProtKB/Swiss-Prot
  Q96KJ2 UniProtKB/Swiss-Prot
  Q9BR08 UniProtKB/Swiss-Prot
  Q9BW68 UniProtKB/Swiss-Prot