CHSY1 (chondroitin sulfate synthase 1) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: CHSY1 (chondroitin sulfate synthase 1) Homo sapiens
Analyze
Symbol: CHSY1
Name: chondroitin sulfate synthase 1
RGD ID: 1323606
HGNC Page HGNC
Description: Exhibits N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity and glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity. Involved in chondroitin sulfate biosynthetic process and negative regulation of ossification. Localizes to extracellular region. Implicated in temtamy preaxial brachydactyly syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: carbohydrate synthase 1; chondroitin glucuronyltransferase 1; chondroitin glucuronyltransferase II; chondroitin synthase 1; CHSY; ChSy-1; CSS1; DKFZp434M032; FLJ58581; glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase 1; KIAA0990; N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase 1; N-acetylgalactosaminyltransferase 1; N-acetylgalactosaminyltransferase II; TPBS
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
GRCh38.p13 Ensembl15101,175,727 - 101,252,048 (-)EnsemblGRCh38hg38GRCh38
GRCh3815101,175,727 - 101,252,048 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3715101,715,932 - 101,792,253 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361599,533,455 - 99,609,649 (-)NCBINCBI36hg18NCBI36
Build 341599,533,455 - 99,609,649NCBI
Celera1578,129,035 - 78,204,977 (-)NCBI
Cytogenetic Map15q26.3NCBI
HuRef1577,838,413 - 77,914,374 (-)NCBIHuRef
CHM1_115101,556,975 - 101,633,122 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormality of canine  (IAGP)
Abnormality of the lens  (IAGP)
Abnormally large globe  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bilateral sensorineural hearing impairment  (IAGP)
Blue sclerae  (IAGP)
Brachydactyly  (IAGP)
Carpal synostosis  (IAGP)
Cleft palate  (IAGP)
Clinodactyly  (IAGP)
Clinodactyly of the 2nd finger  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Complete duplication of proximal phalanx of the thumb  (IAGP)
Complete duplication of the middle phalanx of the 3rd finger  (IAGP)
Cutaneous finger syndactyly  (IAGP)
Deep philtrum  (IAGP)
Diastema  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
Highly arched eyebrow  (IAGP)
Hitchhiker thumb  (IAGP)
Hypertelorism  (IAGP)
Hypodontia  (IAGP)
Hypoplasia of the maxilla  (IAGP)
Intellectual disability  (IAGP)
Low-set ears  (IAGP)
Microdontia  (IAGP)
Micrognathia  (IAGP)
Narrow mouth  (IAGP)
Oligodontia  (IAGP)
Optic atrophy  (IAGP)
Partial duplication of the proximal phalanx of the 3rd finger  (IAGP)
Partial duplication of thumb phalanx  (IAGP)
Plagiocephaly  (IAGP)
Poor speech  (IAGP)
Proximal radio-ulnar synostosis  (IAGP)
Proximal symphalangism of hands  (IAGP)
Radial deviation of finger  (IAGP)
Radioulnar synostosis  (IAGP)
Round face  (IAGP)
Schizophrenia  (IAGP)
Severe sensorineural hearing impairment  (IAGP)
Short foot  (IAGP)
Short hallux  (IAGP)
Short metacarpal  (IAGP)
Short metatarsal  (IAGP)
Short nose  (IAGP)
Short palm  (IAGP)
Short stature  (IAGP)
Specific learning disability  (IAGP)
Syndactyly  (IAGP)
Synophrys  (IAGP)
Talon cusp  (IAGP)
Tarsal synostosis  (IAGP)
Tibial deviation of the 2nd toe  (IAGP)
Tibial deviation of the 5th toe  (IAGP)
Widely-spaced maxillary central incisors  (IAGP)
References

Additional References at PubMed
PMID:10231032   PMID:11514575   PMID:12477932   PMID:12716890   PMID:12907687   PMID:12975309   PMID:15489334   PMID:16303743   PMID:19322201   PMID:19946888   PMID:21129727   PMID:21129728  
PMID:21468578   PMID:21873635   PMID:23291589   PMID:23322567   PMID:23811343   PMID:24068947   PMID:24269551   PMID:25609649   PMID:26186194   PMID:26496610   PMID:26997434   PMID:28514442  
PMID:28652022   PMID:29507755   PMID:31073040  


Genomics

Comparative Map Data
CHSY1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl15101,175,727 - 101,252,048 (-)EnsemblGRCh38hg38GRCh38
GRCh3815101,175,727 - 101,252,048 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3715101,715,932 - 101,792,253 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361599,533,455 - 99,609,649 (-)NCBINCBI36hg18NCBI36
Build 341599,533,455 - 99,609,649NCBI
Celera1578,129,035 - 78,204,977 (-)NCBI
Cytogenetic Map15q26.3NCBI
HuRef1577,838,413 - 77,914,374 (-)NCBIHuRef
CHM1_115101,556,975 - 101,633,122 (-)NCBICHM1_1
Chsy1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39765,759,240 - 65,823,546 (+)NCBIGRCm39mm39
GRCm39 Ensembl765,759,263 - 65,823,546 (+)Ensembl
GRCm38766,109,492 - 66,173,798 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl766,109,515 - 66,173,798 (+)EnsemblGRCm38mm10GRCm38
MGSCv37773,254,401 - 73,318,684 (+)NCBIGRCm37mm9NCBIm37
MGSCv36765,988,465 - 66,052,748 (+)NCBImm8
Celera763,545,296 - 63,619,383 (+)NCBICelera
Cytogenetic Map7CNCBI
Chsy1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21119,689,626 - 119,750,711 (+)NCBI
Rnor_6.0 Ensembl1127,010,588 - 127,071,570 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01127,010,587 - 127,071,570 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01128,095,353 - 128,156,041 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41120,539,002 - 120,600,102 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11120,616,912 - 120,677,080 (+)NCBI
Celera1111,901,152 - 111,961,962 (+)NCBICelera
Cytogenetic Map1q22NCBI
Chsy1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541628,070,710 - 28,135,590 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541628,070,981 - 28,136,848 (-)NCBIChiLan1.0ChiLan1.0
CHSY1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11599,186,705 - 99,259,882 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1599,186,705 - 99,260,591 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01579,901,340 - 79,976,067 (-)NCBIMhudiblu_PPA_v0panPan3
CHSY1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1339,844,227 - 39,916,484 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl339,844,195 - 40,021,573 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha342,532,031 - 42,605,585 (+)NCBI
ROS_Cfam_1.0340,234,309 - 40,307,861 (+)NCBI
UMICH_Zoey_3.1339,767,324 - 39,840,760 (+)NCBI
UNSW_CanFamBas_1.0340,004,150 - 40,077,669 (+)NCBI
UU_Cfam_GSD_1.0340,207,051 - 40,279,606 (+)NCBI
Chsy1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640143,648,412 - 143,720,663 (-)NCBI
SpeTri2.0NW_0049364832,613,820 - 2,685,986 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CHSY1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1139,730,721 - 139,804,583 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11139,730,703 - 139,804,458 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21155,960,054 - 156,033,821 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CHSY1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12919,633,335 - 19,707,547 (-)NCBI
ChlSab1.1 Ensembl2919,632,026 - 19,707,425 (-)Ensembl
Chsy1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247683,567,770 - 3,628,360 (+)NCBI

Position Markers
D11S2252E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3715101,716,053 - 101,716,127UniSTSGRCh37
GRCh37119,651,564 - 9,651,637UniSTSGRCh37
Build 36119,608,140 - 9,608,213RGDNCBI36
Celera1578,129,160 - 78,129,234UniSTS
Celera119,772,977 - 9,773,050RGD
Cytogenetic Map15q26.3UniSTS
HuRef1577,838,539 - 77,838,613UniSTS
HuRef119,323,252 - 9,323,325UniSTS
RH121848  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3715101,719,397 - 101,719,701UniSTSGRCh37
Build 361599,536,920 - 99,537,224RGDNCBI36
Celera1578,132,504 - 78,132,808RGD
Cytogenetic Map15q26.3UniSTS
HuRef1577,841,883 - 77,842,187UniSTS
SHGC-147931  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3715101,733,816 - 101,734,103UniSTSGRCh37
Build 361599,551,339 - 99,551,626RGDNCBI36
Celera1578,147,011 - 78,147,298RGD
Cytogenetic Map15q26.3UniSTS
HuRef1577,856,386 - 77,856,673UniSTS
RH189  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3715101,716,063 - 101,716,250UniSTSGRCh37
Build 361599,533,586 - 99,533,773RGDNCBI36
Celera1578,129,170 - 78,129,357RGD
Cytogenetic Map15q26.3UniSTS
HuRef1577,838,549 - 77,838,736UniSTS
GeneMap99-GB4 RH Map15358.04UniSTS
NCBI RH Map15733.7UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1436
Count of miRNA genes:805
Interacting mature miRNAs:928
Transcripts:ENST00000254190, ENST00000543813, ENST00000559384, ENST00000560766, ENST00000561143, ENST00000561414
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


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
Medium 1422 2099 1253 225 1444 108 3538 742 1317 289 1286 1566 130 1192 2006 4
Low 1017 892 473 399 507 357 819 1454 2417 130 174 42 45 1 12 782 2 2
Below cutoff 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_031908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006720435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB023207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB071402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC019254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC023024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC046247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ007796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000254190   ⟹   ENSP00000254190
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl15101,175,727 - 101,252,048 (-)Ensembl
RefSeq Acc Id: ENST00000543813   ⟹   ENSP00000496160
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl15101,177,101 - 101,235,147 (-)Ensembl
RefSeq Acc Id: ENST00000559384
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl15101,235,509 - 101,242,617 (-)Ensembl
RefSeq Acc Id: ENST00000560766
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl15101,178,577 - 101,188,025 (-)Ensembl
RefSeq Acc Id: ENST00000561143
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl15101,187,541 - 101,189,567 (-)Ensembl
RefSeq Acc Id: ENST00000561414
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl15101,178,602 - 101,187,870 (-)Ensembl
RefSeq Acc Id: NM_014918   ⟹   NP_055733
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3815101,175,727 - 101,252,048 (-)NCBI
GRCh3715101,715,928 - 101,792,137 (-)RGD
GRCh3715101,715,928 - 101,792,137 (-)NCBI
Build 361599,533,455 - 99,609,649 (-)NCBI Archive
Celera1578,129,035 - 78,204,977 (-)RGD
HuRef1577,838,413 - 77,914,374 (-)ENTREZGENE
CHM1_115101,556,975 - 101,633,122 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006720435   ⟹   XP_006720498
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3815101,175,727 - 101,189,774 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011521364   ⟹   XP_011519666
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3815101,175,727 - 101,251,471 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017022011   ⟹   XP_016877500
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3815101,175,727 - 101,189,775 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024449873   ⟹   XP_024305641
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3815101,175,727 - 101,185,569 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_055733   ⟸   NM_014918
- Peptide Label: precursor
- UniProtKB: Q86X52 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006720498   ⟸   XM_006720435
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011519666   ⟸   XM_011521364
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016877500   ⟸   XM_017022011
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_024305641   ⟸   XM_024449873
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000496160   ⟸   ENST00000543813
RefSeq Acc Id: ENSP00000254190   ⟸   ENST00000254190

Promoters
RGD ID:6810737
Promoter ID:HG_ACW:28410
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:CHSY1.BAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361599,545,651 - 99,546,151 (-)MPROMDB
RGD ID:6810738
Promoter ID:HG_ACW:28415
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:CHSY1.EAPR07-UNSPLICED,   CHSY1.FAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361599,592,821 - 99,593,321 (-)MPROMDB
RGD ID:6792179
Promoter ID:HG_KWN:22487
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:OTTHUMT00000313624,   UC002BWT.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361599,608,901 - 99,610,317 (-)MPROMDB
RGD ID:7230689
Promoter ID:EPDNEW_H21091
Type:initiation region
Name:CHSY1_1
Description:chondroitin sulfate synthase 1
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
GRCh3815101,251,946 - 101,252,006EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
CHSY1, 30-BP DEL, NT55 deletion Temtamy preaxial brachydactyly syndrome [RCV000023688] Chr15:15q26.3 pathogenic
NM_014918.5(CHSY1):c.14del (p.Gly5fs) deletion Temtamy preaxial brachydactyly syndrome [RCV000023689] Chr15:101251443 [GRCh38]
Chr15:101791648 [GRCh37]
Chr15:15q26.3
pathogenic
NM_014918.5(CHSY1):c.205C>T (p.Gln69Ter) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV000023690] Chr15:101251252 [GRCh38]
Chr15:101791457 [GRCh37]
Chr15:15q26.3
pathogenic
NM_014918.5(CHSY1):c.321-3C>G single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV000023691] Chr15:101235580 [GRCh38]
Chr15:101775785 [GRCh37]
Chr15:15q26.3
pathogenic
NM_014918.5(CHSY1):c.1616C>G (p.Pro539Arg) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV000023692] Chr15:101178181 [GRCh38]
Chr15:101718386 [GRCh37]
Chr15:15q26.3
pathogenic
NM_014918.5(CHSY1):c.96del (p.Glu33fs) deletion Temtamy preaxial brachydactyly syndrome [RCV000023693] Chr15:101251361 [GRCh38]
Chr15:101791566 [GRCh37]
Chr15:15q26.3
pathogenic
NM_014918.5(CHSY1):c.21C>T (p.Arg7=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001082707]|not provided [RCV000729771] Chr15:101251436 [GRCh38]
Chr15:101791641 [GRCh37]
Chr15:15q26.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014918.5(CHSY1):c.730C>A (p.Arg244=) single nucleotide variant not provided [RCV000729882] Chr15:101235168 [GRCh38]
Chr15:101775373 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_014918.5(CHSY1):c.1772G>A (p.Arg591His) single nucleotide variant not provided [RCV000729884] Chr15:101178025 [GRCh38]
Chr15:101718230 [GRCh37]
Chr15:15q26.3
uncertain significance
GRCh38/hg38 15q26.2-26.3(chr15:94033008-101843270)x3 copy number gain See cases [RCV000050851] Chr15:94033008..101843270 [GRCh38]
Chr15:94576237..102383473 [GRCh37]
Chr15:92377241..100200996 [NCBI36]
Chr15:15q26.2-26.3
pathogenic
GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3 copy number gain See cases [RCV000052354] Chr15:89679237..101978958 [GRCh38]
Chr15:90222468..102519161 [GRCh37]
Chr15:88023472..100336684 [NCBI36]
Chr15:15q26.1-26.3
pathogenic
GRCh38/hg38 15q24.2-26.3(chr15:75307767-101723215)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|See cases [RCV000052346] Chr15:75307767..101723215 [GRCh38]
Chr15:75600108..102263418 [GRCh37]
Chr15:73387161..100080941 [NCBI36]
Chr15:15q24.2-26.3
pathogenic
GRCh38/hg38 15q24.3-26.3(chr15:77543797-101843411)x3 copy number gain See cases [RCV000052347] Chr15:77543797..101843411 [GRCh38]
Chr15:77836139..102383614 [GRCh37]
Chr15:75623194..100201137 [NCBI36]
Chr15:15q24.3-26.3
pathogenic
GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3 copy number gain See cases [RCV000052352] Chr15:84169153..101904929 [GRCh38]
Chr15:84837905..102445132 [GRCh37]
Chr15:82628909..100262655 [NCBI36]
Chr15:15q25.2-26.3
pathogenic
GRCh38/hg38 15q26.2-26.3(chr15:96069425-101849578)x1 copy number loss See cases [RCV000053228] Chr15:96069425..101849578 [GRCh38]
Chr15:96612654..102389781 [GRCh37]
Chr15:94413658..100207304 [NCBI36]
Chr15:15q26.2-26.3
pathogenic
GRCh38/hg38 15q26.2-26.3(chr15:96329791-101849578)x1 copy number loss See cases [RCV000053244] Chr15:96329791..101849578 [GRCh38]
Chr15:96873020..102389781 [GRCh37]
Chr15:94674024..100207304 [NCBI36]
Chr15:15q26.2-26.3
pathogenic
GRCh38/hg38 15q26.2-26.3(chr15:96913979-101843411)x1 copy number loss See cases [RCV000053245] Chr15:96913979..101843411 [GRCh38]
Chr15:97457209..102383614 [GRCh37]
Chr15:95258213..100201137 [NCBI36]
Chr15:15q26.2-26.3
pathogenic
GRCh38/hg38 15q26.2-26.3(chr15:97735430-101810992)x1 copy number loss See cases [RCV000053246] Chr15:97735430..101810992 [GRCh38]
Chr15:98278660..102351195 [GRCh37]
Chr15:96079664..100168718 [NCBI36]
Chr15:15q26.2-26.3
pathogenic
GRCh38/hg38 15q26.3(chr15:98845807-101843270)x1 copy number loss See cases [RCV000053247] Chr15:98845807..101843270 [GRCh38]
Chr15:99389036..102383473 [GRCh37]
Chr15:97206559..100200996 [NCBI36]
Chr15:15q26.3
pathogenic
GRCh38/hg38 15q26.3(chr15:98926805-101843270)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053248]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053248]|See cases [RCV000053248] Chr15:98926805..101843270 [GRCh38]
Chr15:99470034..102383473 [GRCh37]
Chr15:97287557..100200996 [NCBI36]
Chr15:15q26.3
pathogenic
GRCh38/hg38 15q26.3(chr15:100126374-101843270)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053249]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053249]|See cases [RCV000053249] Chr15:100126374..101843270 [GRCh38]
Chr15:100666579..102383473 [GRCh37]
Chr15:98484102..100200996 [NCBI36]
Chr15:15q26.3
pathogenic
GRCh38/hg38 15q26.3(chr15:100222791-101843270)x1 copy number loss See cases [RCV000053250] Chr15:100222791..101843270 [GRCh38]
Chr15:100762996..102383473 [GRCh37]
Chr15:98580519..100200996 [NCBI36]
Chr15:15q26.3
pathogenic
NM_014918.5(CHSY1):c.179_190dup (p.Gly60_Gly63dup) duplication Temtamy preaxial brachydactyly syndrome [RCV000662045] Chr15:101251266..101251267 [GRCh38]
Chr15:101791471..101791472 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_014918.5(CHSY1):c.731G>A (p.Arg244Gln) single nucleotide variant not provided [RCV000122539] Chr15:101235167 [GRCh38]
Chr15:101775372 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_014918.5(CHSY1):c.39G>A (p.Leu13=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001080621]|not provided [RCV000173442] Chr15:101251418 [GRCh38]
Chr15:101791623 [GRCh37]
Chr15:15q26.3
benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 15q26.1-26.3(chr15:93198717-101843270)x1 copy number loss See cases [RCV000133733] Chr15:93198717..101843270 [GRCh38]
Chr15:93741946..102383473 [GRCh37]
Chr15:91542950..100200996 [NCBI36]
Chr15:15q26.1-26.3
pathogenic
GRCh38/hg38 15q26.3(chr15:101240570-101468912)x3 copy number gain See cases [RCV000134435] Chr15:101240570..101468912 [GRCh38]
Chr15:101780775..102009117 [GRCh37]
Chr15:99598298..99826640 [NCBI36]
Chr15:15q26.3
benign
GRCh38/hg38 15q26.2-26.3(chr15:97014065-101843270)x1 copy number loss See cases [RCV000135397] Chr15:97014065..101843270 [GRCh38]
Chr15:97557295..102383473 [GRCh37]
Chr15:95358299..100200996 [NCBI36]
Chr15:15q26.2-26.3
pathogenic
GRCh38/hg38 15q26.3(chr15:99155987-101843270)x1 copy number loss See cases [RCV000134969] Chr15:99155987..101843270 [GRCh38]
Chr15:99696192..102383473 [GRCh37]
Chr15:97513715..100200996 [NCBI36]
Chr15:15q26.3
pathogenic
GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3 copy number gain See cases [RCV000135858] Chr15:83711377..101843270 [GRCh38]
Chr15:84380129..102383473 [GRCh37]
Chr15:82171133..100200996 [NCBI36]
Chr15:15q25.2-26.3
pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3 copy number gain See cases [RCV000135568] Chr15:87904735..101843270 [GRCh38]
Chr15:88447966..102383473 [GRCh37]
Chr15:86248970..100200996 [NCBI36]
Chr15:15q25.3-26.3
pathogenic
GRCh38/hg38 15q26.3(chr15:101170474-101474188)x3 copy number gain See cases [RCV000136485] Chr15:101170474..101474188 [GRCh38]
Chr15:101710679..102014393 [GRCh37]
Chr15:99528202..99831916 [NCBI36]
Chr15:15q26.3
benign
GRCh38/hg38 15q26.3(chr15:100194660-101373649)x3 copy number gain See cases [RCV000135930] Chr15:100194660..101373649 [GRCh38]
Chr15:100734865..101913854 [GRCh37]
Chr15:98552388..99731377 [NCBI36]
Chr15:15q26.3
pathogenic|uncertain significance
GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3 copy number gain See cases [RCV000136849] Chr15:82859676..101810992 [GRCh38]
Chr15:83528428..102351195 [GRCh37]
Chr15:81325482..100168718 [NCBI36]
Chr15:15q25.2-26.3
pathogenic
GRCh38/hg38 15q26.2-26.3(chr15:95770627-101810992)x1 copy number loss See cases [RCV000136864] Chr15:95770627..101810992 [GRCh38]
Chr15:96313856..102351195 [GRCh37]
Chr15:94114860..100168718 [NCBI36]
Chr15:15q26.2-26.3
pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4 copy number gain See cases [RCV000137264] Chr15:85826665..101920998 [GRCh38]
Chr15:86369896..102461201 [GRCh37]
Chr15:84170900..100278724 [NCBI36]
Chr15:15q25.3-26.3
pathogenic
GRCh38/hg38 15q26.2-26.3(chr15:97941427-101797926)x1 copy number loss See cases [RCV000139666] Chr15:97941427..101797926 [GRCh38]
Chr15:98484657..102338129 [GRCh37]
Chr15:96285661..100155652 [NCBI36]
Chr15:15q26.2-26.3
pathogenic
GRCh38/hg38 15q26.2-26.3(chr15:97172754-101920998)x1 copy number loss See cases [RCV000141263] Chr15:97172754..101920998 [GRCh38]
Chr15:97715984..102461201 [GRCh37]
Chr15:95516988..100278724 [NCBI36]
Chr15:15q26.2-26.3
pathogenic
GRCh38/hg38 15q26.1-26.3(chr15:93041524-101941326)x3 copy number gain See cases [RCV000141431] Chr15:93041524..101941326 [GRCh38]
Chr15:93584754..102481529 [GRCh37]
Chr15:91385758..100299052 [NCBI36]
Chr15:15q26.1-26.3
pathogenic
GRCh38/hg38 15q26.2-26.3(chr15:97283711-101920998)x3 copy number gain See cases [RCV000140658] Chr15:97283711..101920998 [GRCh38]
Chr15:97826941..102461201 [GRCh37]
Chr15:95627945..100278724 [NCBI36]
Chr15:15q26.2-26.3
likely pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3 copy number gain See cases [RCV000141899] Chr15:85397539..101888909 [GRCh38]
Chr15:85940770..102429112 [GRCh37]
Chr15:83741774..100246635 [NCBI36]
Chr15:15q25.3-26.3
pathogenic
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 copy number gain See cases [RCV000142915] Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3
pathogenic
GRCh38/hg38 15q26.3(chr15:101045648-101457911)x3 copy number gain See cases [RCV000143074] Chr15:101045648..101457911 [GRCh38]
Chr15:101585853..101998116 [GRCh37]
Chr15:99403376..99815639 [NCBI36]
Chr15:15q26.3
likely benign
GRCh38/hg38 15q26.2-26.3(chr15:96024127-101920998)x1 copy number loss See cases [RCV000143088] Chr15:96024127..101920998 [GRCh38]
Chr15:96567356..102461201 [GRCh37]
Chr15:94368360..100278724 [NCBI36]
Chr15:15q26.2-26.3
pathogenic
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3 copy number gain See cases [RCV000143019] Chr15:72154949..101920998 [GRCh38]
Chr15:72447290..102461201 [GRCh37]
Chr15:70234344..100278724 [NCBI36]
Chr15:15q23-26.3
pathogenic
GRCh38/hg38 15q26.3(chr15:99338283-101843270)x3 copy number gain See cases [RCV000142579] Chr15:99338283..101843270 [GRCh38]
Chr15:99878488..102383473 [GRCh37]
Chr15:97696011..100200996 [NCBI36]
Chr15:15q26.3
pathogenic
GRCh38/hg38 15q26.3(chr15:98467297-101843270)x1 copy number loss See cases [RCV000142728] Chr15:98467297..101843270 [GRCh38]
Chr15:99010526..102383473 [GRCh37]
Chr15:96828049..100200996 [NCBI36]
Chr15:15q26.3
pathogenic
GRCh38/hg38 15q26.2-26.3(chr15:97681713-101920998)x1 copy number loss See cases [RCV000143176] Chr15:97681713..101920998 [GRCh38]
Chr15:98224943..102461201 [GRCh37]
Chr15:96025947..100278724 [NCBI36]
Chr15:15q26.2-26.3
pathogenic
GRCh38/hg38 15q26.2-26.3(chr15:93805032-101326876)x1 copy number loss See cases [RCV000143687] Chr15:93805032..101326876 [GRCh38]
Chr15:94348261..101867081 [GRCh37]
Chr15:92149265..99684604 [NCBI36]
Chr15:15q26.2-26.3
pathogenic
GRCh38/hg38 15q26.3(chr15:98280297-101888909)x3 copy number gain See cases [RCV000143526] Chr15:98280297..101888909 [GRCh38]
Chr15:98823526..102429112 [GRCh37]
Chr15:96641049..100246635 [NCBI36]
Chr15:15q26.3
pathogenic
GRCh38/hg38 15q26.3(chr15:101138520-101293161)x1 copy number loss Premature ovarian failure [RCV000225152] Chr15:101138520..101293161 [GRCh38]
Chr15:101678725..101833366 [GRCh37]
Chr15:15q26.3
benign
GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3 copy number gain See cases [RCV000511332] Chr15:76061144..102429112 [GRCh37]
Chr15:15q24.2-26.3
pathogenic
GRCh37/hg19 15q26.2-26.3(chr15:98458265-102354857)x1 copy number loss See cases [RCV000239905] Chr15:98458265..102354857 [GRCh37]
Chr15:15q26.2-26.3
pathogenic
NM_014918.5(CHSY1):c.1473A>G (p.Gln491=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV000546831]|not provided [RCV000991804] Chr15:101178324 [GRCh38]
Chr15:101718529 [GRCh37]
Chr15:15q26.3
benign
GRCh37/hg19 15q26.3(chr15:101645331-102263418)x3 copy number gain See cases [RCV000239911] Chr15:101645331..102263418 [GRCh37]
Chr15:15q26.3
uncertain significance
GRCh37/hg19 15q26.1-26.3(chr15:92197136-102354857)x1 copy number loss See cases [RCV000240535] Chr15:92197136..102354857 [GRCh37]
Chr15:15q26.1-26.3
pathogenic
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 copy number gain See cases [RCV000240602] Chr15:64637227..102509910 [GRCh37]
Chr15:15q22.31-26.3
pathogenic
NM_014918.5(CHSY1):c.1218C>T (p.Asp406=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV000642106]|not specified [RCV000338568] Chr15:101178579 [GRCh38]
Chr15:101718784 [GRCh37]
Chr15:15q26.3
benign|likely benign
NM_014918.5(CHSY1):c.320+9C>T single nucleotide variant not provided [RCV000382677] Chr15:101251128 [GRCh38]
Chr15:101791333 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_014918.5(CHSY1):c.666G>A (p.Gly222=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV000888184]|not specified [RCV000347641] Chr15:101235232 [GRCh38]
Chr15:101775437 [GRCh37]
Chr15:15q26.3
benign|likely benign
NM_014918.5(CHSY1):c.1307A>G (p.Tyr436Cys) single nucleotide variant not provided [RCV000282175] Chr15:101178490 [GRCh38]
Chr15:101718695 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_014918.5(CHSY1):c.2088G>A (p.Thr696=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV000968999]|not specified [RCV000388383] Chr15:101177709 [GRCh38]
Chr15:101717914 [GRCh37]
Chr15:15q26.3
benign|likely benign
NM_014918.5(CHSY1):c.1325T>C (p.Met442Thr) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001087588]|not specified [RCV000323270] Chr15:101178472 [GRCh38]
Chr15:101718677 [GRCh37]
Chr15:15q26.3
benign|likely benign
NM_014918.5(CHSY1):c.986A>G (p.His329Arg) single nucleotide variant not provided [RCV000392848] Chr15:101178811 [GRCh38]
Chr15:101719016 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_014918.5(CHSY1):c.1602A>T (p.Ile534=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001078808]|not provided [RCV000328578] Chr15:101178195 [GRCh38]
Chr15:101718400 [GRCh37]
Chr15:15q26.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014918.5(CHSY1):c.1423C>T (p.Gln475Ter) single nucleotide variant Inborn genetic diseases [RCV000623854] Chr15:101178374 [GRCh38]
Chr15:101718579 [GRCh37]
Chr15:15q26.3
pathogenic|uncertain significance
NM_014918.5(CHSY1):c.1052A>G (p.Lys351Arg) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV000534221]|not provided [RCV000991802] Chr15:101178745 [GRCh38]
Chr15:101718950 [GRCh37]
Chr15:15q26.3
benign
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 copy number gain not provided [RCV000415836] Chr15:59297293..102480888 [GRCh37]
Chr15:15q22.1-26.3
likely pathogenic
NM_014918.5(CHSY1):c.22G>C (p.Ala8Pro) single nucleotide variant not provided [RCV000730044] Chr15:101251435 [GRCh38]
Chr15:101791640 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_014918.5(CHSY1):c.489G>A (p.Lys163=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001084917]|not provided [RCV000733947] Chr15:101235409 [GRCh38]
Chr15:101775614 [GRCh37]
Chr15:15q26.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014918.5(CHSY1):c.1812G>A (p.Val604=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV000559109]|not provided [RCV000991805] Chr15:101177985 [GRCh38]
Chr15:101718190 [GRCh37]
Chr15:15q26.3
benign
GRCh37/hg19 15q25.2-26.3(chr15:85089467-102495441)x3 copy number gain See cases [RCV000449119] Chr15:85089467..102495441 [GRCh37]
Chr15:15q25.2-26.3
pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3
pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:90346994-102354798) copy number loss See cases [RCV000447603] Chr15:90346994..102354798 [GRCh37]
Chr15:15q26.1-26.3
pathogenic
GRCh37/hg19 15q26.2-26.3(chr15:95238218-102429112)x1 copy number loss See cases [RCV000446457] Chr15:95238218..102429112 [GRCh37]
Chr15:15q26.2-26.3
pathogenic
GRCh37/hg19 15q26.3(chr15:101387472-101720748)x3 copy number gain See cases [RCV000445972] Chr15:101387472..101720748 [GRCh37]
Chr15:15q26.3
uncertain significance
GRCh37/hg19 15q26.1-26.3(chr15:89924847-102429112)x3 copy number gain See cases [RCV000445978] Chr15:89924847..102429112 [GRCh37]
Chr15:15q26.1-26.3
pathogenic
GRCh37/hg19 15q26.2-26.3(chr15:94782891-102429112)x1 copy number loss See cases [RCV000445764] Chr15:94782891..102429112 [GRCh37]
Chr15:15q26.2-26.3
pathogenic
GRCh37/hg19 15q25.1-26.3(chr15:80648093-102429112)x3 copy number gain See cases [RCV000445705] Chr15:80648093..102429112 [GRCh37]
Chr15:15q25.1-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q25.3-26.3(chr15:86148286-102511616)x3 copy number gain See cases [RCV000448044] Chr15:86148286..102511616 [GRCh37]
Chr15:15q25.3-26.3
pathogenic
NC_000015.9:g.(?_100885379)_(102399948_?)dup duplication Schizophrenia [RCV000416623] Chr15:100885379..102399948 [GRCh37]
Chr15:98702902..100217471 [NCBI36]
Chr15:15q26.3
likely pathogenic
GRCh37/hg19 15q26.3(chr15:98818228-102399760) copy number loss See cases [RCV000447813] Chr15:98818228..102399760 [GRCh37]
Chr15:15q26.3
pathogenic
GRCh37/hg19 15q26.2-26.3(chr15:97223728-102429112)x1 copy number loss See cases [RCV000448857] Chr15:97223728..102429112 [GRCh37]
Chr15:15q26.2-26.3
pathogenic
GRCh37/hg19 15q26.2-26.3(chr15:95136822-102045577)x1 copy number loss See cases [RCV000512141] Chr15:95136822..102045577 [GRCh37]
Chr15:15q26.2-26.3
pathogenic
GRCh37/hg19 15q26.3(chr15:101124214-102429112)x1 copy number loss See cases [RCV000510246] Chr15:101124214..102429112 [GRCh37]
Chr15:15q26.3
likely benign
GRCh37/hg19 15q26.2-26.3(chr15:96913435-102429112)x1 copy number loss See cases [RCV000510663] Chr15:96913435..102429112 [GRCh37]
Chr15:15q26.2-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q26.3(chr15:101569237-102344434)x3 copy number gain See cases [RCV000511628] Chr15:101569237..102344434 [GRCh37]
Chr15:15q26.3
uncertain significance
GRCh37/hg19 15q26.1-26.3(chr15:93148806-102429112)x3 copy number gain See cases [RCV000511719] Chr15:93148806..102429112 [GRCh37]
Chr15:15q26.1-26.3
pathogenic
GRCh37/hg19 15q26.3(chr15:100564922-102399548)x1 copy number loss See cases [RCV000511119] Chr15:100564922..102399548 [GRCh37]
Chr15:15q26.3
uncertain significance
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3
pathogenic
NM_014918.5(CHSY1):c.333G>A (p.Lys111=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001080855]|not provided [RCV000642105] Chr15:101235565 [GRCh38]
Chr15:101775770 [GRCh37]
Chr15:15q26.3
benign
NM_014918.5(CHSY1):c.1896C>T (p.Val632=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV000535310]|not provided [RCV000991806] Chr15:101177901 [GRCh38]
Chr15:101718106 [GRCh37]
Chr15:15q26.3
benign
NM_014918.5(CHSY1):c.1006C>T (p.Arg336Cys) single nucleotide variant Inborn genetic diseases [RCV000622810]|Temtamy preaxial brachydactyly syndrome [RCV000702135]|not provided [RCV001288917] Chr15:101178791 [GRCh38]
Chr15:101718996 [GRCh37]
Chr15:15q26.3
uncertain significance
GRCh37/hg19 15q26.2-26.3(chr15:98220018-102429112)x1 copy number loss See cases [RCV000512353] Chr15:98220018..102429112 [GRCh37]
Chr15:15q26.2-26.3
pathogenic
GRCh37/hg19 15q26.3(chr15:101238481-102429112)x1 copy number loss See cases [RCV000512205] Chr15:101238481..102429112 [GRCh37]
Chr15:15q26.3
uncertain significance
GRCh37/hg19 15q26.3(chr15:98737093-102429112)x1 copy number loss See cases [RCV000512437] Chr15:98737093..102429112 [GRCh37]
Chr15:15q26.3
pathogenic
GRCh37/hg19 15q26.3(chr15:100526020-102429112)x1 copy number loss not provided [RCV000683730] Chr15:100526020..102429112 [GRCh37]
Chr15:15q26.3
uncertain significance
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3 copy number gain not provided [RCV000683703] Chr15:71329220..102270758 [GRCh37]
Chr15:15q23-26.3
pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:89743929-102429112)x3 copy number gain not provided [RCV000683718] Chr15:89743929..102429112 [GRCh37]
Chr15:15q26.1-26.3
pathogenic
GRCh37/hg19 15q26.3(chr15:99928623-102429112)x3 copy number gain not provided [RCV000683726] Chr15:99928623..102429112 [GRCh37]
Chr15:15q26.3
likely pathogenic
GRCh37/hg19 15q26.3(chr15:101595256-101899130)x3 copy number gain not provided [RCV000683735] Chr15:101595256..101899130 [GRCh37]
Chr15:15q26.3
likely benign
GRCh37/hg19 15q26.3(chr15:101734079-102429112)x3 copy number gain not provided [RCV000683736] Chr15:101734079..102429112 [GRCh37]
Chr15:15q26.3
uncertain significance
GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3 copy number gain not provided [RCV000683710] Chr15:77479244..102429112 [GRCh37]
Chr15:15q24.3-26.3
pathogenic
NM_014918.5(CHSY1):c.303G>C (p.Arg101=) single nucleotide variant not provided [RCV000711207] Chr15:101251154 [GRCh38]
Chr15:101791359 [GRCh37]
Chr15:15q26.3
benign
NM_014918.5(CHSY1):c.57C>T (p.Gly19=) single nucleotide variant not provided [RCV000711208] Chr15:101251400 [GRCh38]
Chr15:101791605 [GRCh37]
Chr15:15q26.3
benign
GRCh37/hg19 15q25.3-26.3(chr15:88385150-102461162)x3 copy number gain not provided [RCV000738864] Chr15:88385150..102461162 [GRCh37]
Chr15:15q25.3-26.3
pathogenic
GRCh37/hg19 15q26.3(chr15:101790381-101792421)x1 copy number loss not provided [RCV000738899] Chr15:101790381..101792421 [GRCh37]
Chr15:15q26.3
benign
GRCh37/hg19 15q26.3(chr15:101790381-101792538)x1 copy number loss not provided [RCV000738900] Chr15:101790381..101792538 [GRCh37]
Chr15:15q26.3
benign
GRCh37/hg19 15q26.3(chr15:101791262-101792538)x1 copy number loss not provided [RCV000738901] Chr15:101791262..101792538 [GRCh37]
Chr15:15q26.3
benign
NM_014918.5(CHSY1):c.779G>A (p.Arg260Gln) single nucleotide variant Hearing impairment [RCV000754563] Chr15:101235119 [GRCh38]
Chr15:101775324 [GRCh37]
Chr15:15q26.3
uncertain significance
GRCh37/hg19 15q26.1-26.3(chr15:90277151-102376761)x3 copy number gain not provided [RCV000751387] Chr15:90277151..102376761 [GRCh37]
Chr15:15q26.1-26.3
pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
NM_014918.5(CHSY1):c.423C>T (p.Asp141=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV000966243] Chr15:101235475 [GRCh38]
Chr15:101775680 [GRCh37]
Chr15:15q26.3
benign
NM_014918.5(CHSY1):c.114C>T (p.Gly38=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV000966340] Chr15:101251343 [GRCh38]
Chr15:101791548 [GRCh37]
Chr15:15q26.3
benign
NM_014918.5(CHSY1):c.1518T>C (p.Phe506=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV000969380] Chr15:101178279 [GRCh38]
Chr15:101718484 [GRCh37]
Chr15:15q26.3
benign
NM_014918.5(CHSY1):c.42C>T (p.Leu14=) single nucleotide variant not provided [RCV000927768] Chr15:101251415 [GRCh38]
Chr15:101791620 [GRCh37]
Chr15:15q26.3
likely benign
NM_014918.5(CHSY1):c.246C>A (p.Arg82=) single nucleotide variant not provided [RCV000923614] Chr15:101251211 [GRCh38]
Chr15:101791416 [GRCh37]
Chr15:15q26.3
likely benign
NM_014918.5(CHSY1):c.135C>T (p.Pro45=) single nucleotide variant not provided [RCV000893479] Chr15:101251322 [GRCh38]
Chr15:101791527 [GRCh37]
Chr15:15q26.3
likely benign
NM_014918.5(CHSY1):c.1176C>T (p.Pro392=) single nucleotide variant not provided [RCV000900032] Chr15:101178621 [GRCh38]
Chr15:101718826 [GRCh37]
Chr15:15q26.3
benign
NM_014918.5(CHSY1):c.1566G>A (p.Ser522=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV000969000] Chr15:101178231 [GRCh38]
Chr15:101718436 [GRCh37]
Chr15:15q26.3
benign
GRCh37/hg19 15q26.2-26.3(chr15:96873212-102389423) copy number loss not provided [RCV000767761] Chr15:96873212..102389423 [GRCh37]
Chr15:15q26.2-26.3
pathogenic
NM_014918.5(CHSY1):c.1555C>A (p.Leu519Ile) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV000964349] Chr15:101178242 [GRCh38]
Chr15:101718447 [GRCh37]
Chr15:15q26.3
likely benign
NM_014918.5(CHSY1):c.2322C>A (p.Thr774=) single nucleotide variant not provided [RCV000831272] Chr15:101177475 [GRCh38]
Chr15:101717680 [GRCh37]
Chr15:15q26.3
benign
NM_014918.5(CHSY1):c.1905G>C (p.Val635=) single nucleotide variant not provided [RCV000831369] Chr15:101177892 [GRCh38]
Chr15:101718097 [GRCh37]
Chr15:15q26.3
benign
NM_014918.5(CHSY1):c.730C>T (p.Arg244Trp) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV000800256] Chr15:101235168 [GRCh38]
Chr15:101775373 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_014918.5(CHSY1):c.1111G>A (p.Glu371Lys) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV000793536] Chr15:101178686 [GRCh38]
Chr15:101718891 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_014918.5(CHSY1):c.1302C>T (p.Tyr434=) single nucleotide variant not provided [RCV000991803] Chr15:101178495 [GRCh38]
Chr15:101718700 [GRCh37]
Chr15:15q26.3
benign
NM_014918.5(CHSY1):c.2159A>T (p.Asp720Val) single nucleotide variant not provided [RCV001090945] Chr15:101177638 [GRCh38]
Chr15:101717843 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_014918.5(CHSY1):c.1893C>T (p.Asp631=) single nucleotide variant not provided [RCV000941046] Chr15:101177904 [GRCh38]
Chr15:101718109 [GRCh37]
Chr15:15q26.3
likely benign
NM_014918.5(CHSY1):c.1312C>T (p.Arg438Trp) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV000800614] Chr15:101178485 [GRCh38]
Chr15:101718690 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_014918.5(CHSY1):c.535G>T (p.Asp179Tyr) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV000800921] Chr15:101235363 [GRCh38]
Chr15:101775568 [GRCh37]
Chr15:15q26.3
uncertain significance
GRCh37/hg19 15q26.1-26.3(chr15:90288175-102429112)x3 copy number gain not provided [RCV000846885] Chr15:90288175..102429112 [GRCh37]
Chr15:15q26.1-26.3
pathogenic
GRCh37/hg19 15q26.3(chr15:101696490-102311245)x3 copy number gain not provided [RCV000848225] Chr15:101696490..102311245 [GRCh37]
Chr15:15q26.3
uncertain significance
GRCh37/hg19 15q26.3(chr15:101781933-102133671)x3 copy number gain not provided [RCV000849379] Chr15:101781933..102133671 [GRCh37]
Chr15:15q26.3
uncertain significance
GRCh37/hg19 15q26.3(chr15:98686212-102429112)x1 copy number loss not provided [RCV001006729] Chr15:98686212..102429112 [GRCh37]
Chr15:15q26.3
pathogenic
NM_014918.5(CHSY1):c.479A>T (p.Tyr160Phe) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001241442] Chr15:101235419 [GRCh38]
Chr15:101775624 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_014918.5(CHSY1):c.2320A>G (p.Thr774Ala) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001241511] Chr15:101177477 [GRCh38]
Chr15:101717682 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_014918.5(CHSY1):c.209T>G (p.Leu70Arg) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001221669] Chr15:101251248 [GRCh38]
Chr15:101791453 [GRCh37]
Chr15:15q26.3
uncertain significance
GRCh37/hg19 15q26.2-26.3(chr15:96878099-102397836)x1 copy number loss Chromosome 15q26-qter deletion syndrome [RCV000993689] Chr15:96878099..102397836 [GRCh37]
Chr15:15q26.2-26.3
pathogenic
GRCh37/hg19 15q25.3-26.3(chr15:87189245-102429112)x1 copy number loss not provided [RCV001006718] Chr15:87189245..102429112 [GRCh37]
Chr15:15q25.3-26.3
pathogenic
NM_014918.5(CHSY1):c.261C>T (p.Leu87=) single nucleotide variant not provided [RCV000887173] Chr15:101251196 [GRCh38]
Chr15:101791401 [GRCh37]
Chr15:15q26.3
likely benign
NM_014918.5(CHSY1):c.1701C>T (p.Leu567=) single nucleotide variant not provided [RCV000909932] Chr15:101178096 [GRCh38]
Chr15:101718301 [GRCh37]
Chr15:15q26.3
benign
NM_014918.5(CHSY1):c.2040C>G (p.Ala680=) single nucleotide variant not provided [RCV000908459] Chr15:101177757 [GRCh38]
Chr15:101717962 [GRCh37]
Chr15:15q26.3
likely benign
NM_014918.5(CHSY1):c.534A>G (p.Gly178=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV000960958]|not specified [RCV001288918] Chr15:101235364 [GRCh38]
Chr15:101775569 [GRCh37]
Chr15:15q26.3
benign
NM_014918.5(CHSY1):c.612G>A (p.Thr204=) single nucleotide variant not provided [RCV000953025] Chr15:101235286 [GRCh38]
Chr15:101775491 [GRCh37]
Chr15:15q26.3
likely benign
NM_014918.5(CHSY1):c.1725C>T (p.Asp575=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV000970722] Chr15:101178072 [GRCh38]
Chr15:101718277 [GRCh37]
Chr15:15q26.3
benign
NM_014918.5(CHSY1):c.1008C>T (p.Arg336=) single nucleotide variant not provided [RCV000902260] Chr15:101178789 [GRCh38]
Chr15:101718994 [GRCh37]
Chr15:15q26.3
likely benign
NM_014918.5(CHSY1):c.1600A>T (p.Ile534Leu) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001218970] Chr15:101178197 [GRCh38]
Chr15:101718402 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_014918.5(CHSY1):c.971T>C (p.Ile324Thr) single nucleotide variant not provided [RCV000991807] Chr15:101178826 [GRCh38]
Chr15:101719031 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_014918.5(CHSY1):c.2335G>A (p.Glu779Lys) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001217736] Chr15:101177462 [GRCh38]
Chr15:101717667 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_014918.5(CHSY1):c.787G>T (p.Ala263Ser) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001234113] Chr15:101235111 [GRCh38]
Chr15:101775316 [GRCh37]
Chr15:15q26.3
uncertain significance
GRCh37/hg19 15q26.3(chr15:98795669-102429112)x1 copy number loss not provided [RCV001006730] Chr15:98795669..102429112 [GRCh37]
Chr15:15q26.3
pathogenic
GRCh37/hg19 15q26.3(chr15:101683593-102270458)x3 copy number gain not provided [RCV001259823] Chr15:101683593..102270458 [GRCh37]
Chr15:15q26.3
likely benign
GRCh37/hg19 15q26.2-26.3(chr15:98275761-102358202)x1 copy number loss not provided [RCV001259819] Chr15:98275761..102358202 [GRCh37]
Chr15:15q26.2-26.3
pathogenic
GRCh37/hg19 15q26.3(chr15:100853021-102429112)x1 copy number loss not provided [RCV001259829] Chr15:100853021..102429112 [GRCh37]
Chr15:15q26.3
uncertain significance
GRCh37/hg19 15q25.3-26.3(chr15:86962053-102531392)x1 copy number loss See cases [RCV001263026] Chr15:86962053..102531392 [GRCh37]
Chr15:15q25.3-26.3
pathogenic
NM_014918.5(CHSY1):c.2273A>G (p.Lys758Arg) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001305724] Chr15:101177524 [GRCh38]
Chr15:101717729 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_014918.5(CHSY1):c.1328A>G (p.Tyr443Cys) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001340213] Chr15:101178469 [GRCh38]
Chr15:101718674 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_014918.5(CHSY1):c.989G>A (p.Arg330His) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001301868] Chr15:101178808 [GRCh38]
Chr15:101719013 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_014918.5(CHSY1):c.158C>T (p.Ala53Val) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001326458] Chr15:101251299 [GRCh38]
Chr15:101791504 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_014918.5(CHSY1):c.949A>G (p.Ser317Gly) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001346532] Chr15:101178848 [GRCh38]
Chr15:101719053 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_014918.5(CHSY1):c.988C>T (p.Arg330Cys) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001325829] Chr15:101178809 [GRCh38]
Chr15:101719014 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_014918.5(CHSY1):c.94T>C (p.Ser32Pro) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001345554] Chr15:101251363 [GRCh38]
Chr15:101791568 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_014918.5(CHSY1):c.1267A>G (p.Arg423Gly) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001304424] Chr15:101178530 [GRCh38]
Chr15:101718735 [GRCh37]
Chr15:15q26.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17198 AgrOrtholog
COSMIC CHSY1 COSMIC
Ensembl Genes ENSG00000131873 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000254190 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000496160 UniProtKB/TrEMBL
Ensembl Transcript ENST00000254190 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000543813 UniProtKB/TrEMBL
Gene3D-CATH 3.90.550.10 UniProtKB/Swiss-Prot
GTEx ENSG00000131873 GTEx
HGNC ID HGNC:17198 ENTREZGENE
Human Proteome Map CHSY1 Human Proteome Map
InterPro Chond_GalNAc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucleotide-diphossugar_trans UniProtKB/Swiss-Prot
KEGG Report hsa:22856 UniProtKB/Swiss-Prot
NCBI Gene 22856 ENTREZGENE
OMIM 605282 OMIM
  608183 OMIM
Pfam CHGN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26509 PharmGKB
Superfamily-SCOP SSF53448 UniProtKB/Swiss-Prot
UniProt A0A2R8Y7B7_HUMAN UniProtKB/TrEMBL
  CHSS1_HUMAN UniProtKB/Swiss-Prot
  L8E844_HUMAN UniProtKB/TrEMBL
  Q86X52 ENTREZGENE
UniProt Secondary Q6UX38 UniProtKB/Swiss-Prot
  Q7LFU5 UniProtKB/Swiss-Prot
  Q9Y2J5 UniProtKB/Swiss-Prot