B4GALT7 (beta-1,4-galactosyltransferase 7) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: B4GALT7 (beta-1,4-galactosyltransferase 7) Homo sapiens
Analyze
Symbol: B4GALT7
Name: beta-1,4-galactosyltransferase 7
RGD ID: 1354325
HGNC Page HGNC
Description: Enables beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity; manganese ion binding activity; and xylosylprotein 4-beta-galactosyltransferase activity. Involved in several processes, including glycoprotein metabolic process; glycosaminoglycan biosynthetic process; and negative regulation of fibroblast proliferation. Located in Golgi apparatus. Is integral component of membrane. Implicated in Ehlers-Danlos syndrome and Ehlers-Danlos syndrome spondylodysplastic type 1.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: B4GAL-T7; beta-1,4-galactosyltransferase VII; beta-1,4-GalTase 7; beta4Gal-T7; beta4GalT-VII; EDSP1; EDSSLA; EDSSPD1; galactosyltransferase I; proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I; UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 7; UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 7; UDP-galactose:beta-xylose beta-1,4-galactosyltransferase; XGALT-1; XGALT1; XGPT; XGPT1; xylosylprotein 4-beta-galactosyltransferase; xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7; xylosylprotein beta-1,4-galactosyltransferase
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 Ensembl5177,600,132 - 177,610,330 (+)EnsemblGRCh38hg38GRCh38
GRCh385177,600,102 - 177,610,330 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh375177,027,133 - 177,037,331 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365176,959,778 - 176,969,937 (+)NCBINCBI36hg18NCBI36
Build 345176,959,777 - 176,969,936NCBI
Celera5171,465,093 - 171,475,318 (-)NCBI
Cytogenetic Map5q35.3NCBI
HuRef5171,950,894 - 171,957,065 (+)NCBIHuRef
CHM1_15176,459,506 - 176,469,735 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Human Phenotype
Abnormal facial shape  (IAGP)
Abnormality of primary teeth  (IAGP)
Abnormality of skin pigmentation  (IAGP)
Absent earlobe  (IAGP)
Accelerated skeletal maturation  (IAGP)
Aortic valve stenosis  (IAGP)
Arachnodactyly  (IAGP)
Atrophic scars  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bifid uvula  (IAGP)
Blue sclerae  (IAGP)
Bowing of the long bones  (IAGP)
Broad forehead  (IAGP)
Coxa valga  (IAGP)
Craniosynostosis  (IAGP)
Cryptorchidism  (IAGP)
Cutis laxa  (IAGP)
Dislocated radial head  (IAGP)
Epicanthus  (IAGP)
Failure to thrive  (IAGP)
Flared metaphysis  (IAGP)
Flat face  (IAGP)
Flat forehead  (IAGP)
Flexion contracture  (IAGP)
Generalized hypotonia  (IAGP)
Genu recurvatum  (IAGP)
Gingivitis  (IAGP)
Global developmental delay  (IAGP)
Hyperextensible skin  (IAGP)
Hypermetropia  (IAGP)
Hypertelorism  (IAGP)
Hypotonia  (IAGP)
Joint hyperflexibility  (IAGP)
Joint laxity  (IAGP)
Kyphoscoliosis  (IAGP)
Lethal skeletal dysplasia  (IAGP)
Lipodystrophy  (IAGP)
Long toe  (IAGP)
Low-set ears  (IAGP)
Macrocephaly  (IAGP)
Micrognathia  (IAGP)
Midface retrusion  (IAGP)
Mild global developmental delay  (IAGP)
Motor delay  (IAGP)
Narrow chest  (IAGP)
Narrow mouth  (IAGP)
Osteopenia  (IAGP)
Palmoplantar cutis gyrata  (IAGP)
Pectus carinatum  (IAGP)
Pes planus  (IAGP)
Phalangeal dislocation  (IAGP)
Progeroid facial appearance  (IAGP)
Proptosis  (IAGP)
Pulmonic stenosis  (IAGP)
Radioulnar synostosis  (IAGP)
Recurrent fractures  (IAGP)
Scoliosis  (IAGP)
Short clavicles  (IAGP)
Short stature  (IAGP)
Single transverse palmar crease  (IAGP)
Skeletal dysplasia  (IAGP)
Skeletal muscle atrophy  (IAGP)
Slender toe  (IAGP)
Small face  (IAGP)
Sparse and thin eyebrow  (IAGP)
Sparse eyelashes  (IAGP)
Sparse scalp hair  (IAGP)
Talipes equinovalgus  (IAGP)
Talipes equinovarus  (IAGP)
Telecanthus  (IAGP)
Testicular torsion  (IAGP)
Thin skin  (IAGP)
Wide nasal bridge  (IAGP)
References

Additional References at PubMed
PMID:3631078   PMID:10438455   PMID:10506123   PMID:10580128   PMID:10894925   PMID:12477932   PMID:12975309   PMID:14702039   PMID:15211654   PMID:15489334   PMID:15522873   PMID:16583246  
PMID:18158310   PMID:20691685   PMID:20809901   PMID:20843813   PMID:21873635   PMID:24052259   PMID:24755949   PMID:25416956   PMID:25568325   PMID:26186194   PMID:26496610   PMID:26940150  
PMID:28514442   PMID:29117863   PMID:29509190   PMID:31278392   PMID:31527615   PMID:31586073   PMID:31614862   PMID:32149426   PMID:32296183   PMID:33845483  


Genomics

Comparative Map Data
B4GALT7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl5177,600,132 - 177,610,330 (+)EnsemblGRCh38hg38GRCh38
GRCh385177,600,102 - 177,610,330 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh375177,027,133 - 177,037,331 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365176,959,778 - 176,969,937 (+)NCBINCBI36hg18NCBI36
Build 345176,959,777 - 176,969,936NCBI
Celera5171,465,093 - 171,475,318 (-)NCBI
Cytogenetic Map5q35.3NCBI
HuRef5171,950,894 - 171,957,065 (+)NCBIHuRef
CHM1_15176,459,506 - 176,469,735 (+)NCBICHM1_1
B4galt7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391355,747,709 - 55,758,258 (+)NCBIGRCm39mm39
GRCm39 Ensembl1355,747,709 - 55,758,256 (+)Ensembl
GRCm381355,599,896 - 55,610,443 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1355,599,896 - 55,610,443 (+)EnsemblGRCm38mm10GRCm38
MGSCv371355,701,472 - 55,711,315 (+)NCBIGRCm37mm9NCBIm37
MGSCv361355,609,733 - 55,619,576 (+)NCBImm8
Celera1356,654,193 - 56,664,036 (+)NCBICelera
Cytogenetic Map13B1NCBI
B4galt7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2179,018,514 - 9,027,591 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl179,018,935 - 9,027,573 (-)Ensembl
Rnor_6.0179,549,605 - 9,558,672 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl179,550,028 - 9,558,634 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01711,657,450 - 11,666,049 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41715,059,958 - 15,068,556 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11715,060,083 - 15,068,555 (-)NCBI
Celera179,100,550 - 9,109,148 (-)NCBICelera
Cytogenetic Map17p14NCBI
B4galt7
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540829,838,075 - 29,849,357 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540829,837,982 - 29,847,891 (+)NCBIChiLan1.0ChiLan1.0
B4GALT7
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.15179,965,928 - 179,976,159 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5179,965,928 - 179,976,158 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v05172,905,749 - 172,915,970 (+)NCBIMhudiblu_PPA_v0panPan3
B4GALT7
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1113,497,860 - 3,507,513 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl113,498,153 - 3,505,034 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha113,640,557 - 3,649,718 (-)NCBI
ROS_Cfam_1.0113,473,619 - 3,482,780 (-)NCBI
UMICH_Zoey_3.1113,441,378 - 3,450,306 (-)NCBI
UNSW_CanFamBas_1.0113,520,034 - 3,528,963 (-)NCBI
UU_Cfam_GSD_1.0113,763,759 - 3,772,921 (-)NCBI
B4galt7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213122,865,812 - 122,880,135 (+)NCBI
SpeTri2.0NW_0049365971,890,737 - 1,900,702 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
B4GALT7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl280,346,307 - 80,359,973 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1280,349,732 - 80,359,878 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2281,927,404 - 81,937,550 (+)NCBISscrofa10.2Sscrofa10.2susScr3
B4GALT7
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12379,617,929 - 79,628,265 (+)NCBI
ChlSab1.1 Ensembl2379,617,963 - 79,628,377 (+)Ensembl
Vero_WHO_p1.0NW_02366607510,810,860 - 10,821,201 (+)NCBI
B4galt7
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473312,438,287 - 12,455,896 (-)NCBI

Position Markers
B4GALT7_9257  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375177,036,574 - 177,037,322UniSTSGRCh37
Build 365176,969,180 - 176,969,928RGDNCBI36
Celera5171,465,119 - 171,465,867RGD
HuRef5171,956,291 - 171,957,039UniSTS
SHGC-56917  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375177,037,142 - 177,037,236UniSTSGRCh37
Build 365176,969,748 - 176,969,842RGDNCBI36
Celera5171,465,205 - 171,465,299RGD
Cytogenetic Map5q35.2-q35.3UniSTS
HuRef5171,956,859 - 171,956,953UniSTS
TNG Radiation Hybrid Map582914.0UniSTS
RH78007  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375177,031,523 - 177,032,154UniSTSGRCh37
Celera5171,470,287 - 171,470,918UniSTS
Cytogenetic Map5q35.2-q35.3UniSTS
HuRef5171,951,240 - 171,951,871UniSTS
GeneMap99-GB4 RH Map5645.92UniSTS
NCBI RH Map5973.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2487
Count of miRNA genes:844
Interacting mature miRNAs:1032
Transcripts:ENST00000029410, ENST00000502420, ENST00000505145, ENST00000505433, ENST00000505468, ENST00000507061, ENST00000510761, ENST00000515353
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


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 2351 1983 1565 473 1303 317 3907 1474 2953 353 1429 1520 169 1191 2436 4 2
Low 88 1008 161 151 647 148 450 723 781 66 31 93 5 1 13 352 2
Below cutoff 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_015977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_007255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006714816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB028600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC139795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF142675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ005382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX879363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC062983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC072403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS488894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000029410   ⟹   ENSP00000029410
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5177,600,132 - 177,610,330 (+)Ensembl
RefSeq Acc Id: ENST00000502420
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5177,600,132 - 177,608,214 (+)Ensembl
RefSeq Acc Id: ENST00000505145
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5177,605,791 - 177,610,266 (+)Ensembl
RefSeq Acc Id: ENST00000505433   ⟹   ENSP00000425591
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5177,600,162 - 177,609,707 (+)Ensembl
RefSeq Acc Id: ENST00000505468   ⟹   ENSP00000420886
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5177,600,230 - 177,607,338 (+)Ensembl
RefSeq Acc Id: ENST00000507061   ⟹   ENSP00000423868
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5177,604,312 - 177,605,224 (+)Ensembl
RefSeq Acc Id: ENST00000510761   ⟹   ENSP00000423438
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5177,600,206 - 177,607,357 (+)Ensembl
RefSeq Acc Id: ENST00000515353
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5177,607,365 - 177,610,328 (+)Ensembl
RefSeq Acc Id: NM_007255   ⟹   NP_009186
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,600,132 - 177,610,330 (+)NCBI
GRCh375177,027,119 - 177,037,348 (+)ENTREZGENE
Build 365176,959,778 - 176,969,937 (+)NCBI Archive
HuRef5171,950,894 - 171,957,065 (+)ENTREZGENE
CHM1_15176,459,506 - 176,469,735 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006714816   ⟹   XP_006714879
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,600,102 - 177,610,330 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017008999   ⟹   XP_016864488
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,603,113 - 177,610,330 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_009186   ⟸   NM_007255
- UniProtKB: Q9UBV7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006714879   ⟸   XM_006714816
- Peptide Label: isoform X2
- UniProtKB: B3KMT1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016864488   ⟸   XM_017008999
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000425591   ⟸   ENST00000505433
RefSeq Acc Id: ENSP00000420886   ⟸   ENST00000505468
RefSeq Acc Id: ENSP00000423868   ⟸   ENST00000507061
RefSeq Acc Id: ENSP00000423438   ⟸   ENST00000510761
RefSeq Acc Id: ENSP00000029410   ⟸   ENST00000029410
Protein Domains
Glyco_transf_7C   Glyco_transf_7N

Promoters
RGD ID:6802881
Promoter ID:HG_KWN:51930
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000253421
Position:
Human AssemblyChrPosition (strand)Source
Build 365176,958,711 - 176,959,897 (+)MPROMDB
RGD ID:6802882
Promoter ID:HG_KWN:51931
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid
Transcripts:UC003MHZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 365176,963,539 - 176,964,039 (+)MPROMDB
RGD ID:6871730
Promoter ID:EPDNEW_H9030
Type:initiation region
Name:B4GALT7_1
Description:beta-1,4-galactosyltransferase 7
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
GRCh385177,600,141 - 177,600,201EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_007255.3(B4GALT7):c.302T>C (p.Phe101Ser) single nucleotide variant not provided [RCV000521427] Chr5:177604430 [GRCh38]
Chr5:177031431 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_007255.3(B4GALT7):c.557C>A (p.Ala186Asp) single nucleotide variant Ehlers-Danlos syndrome, spondylodysplastic type, 1 [RCV000005963] Chr5:177607445 [GRCh38]
Chr5:177034446 [GRCh37]
Chr5:5q35.3
pathogenic
NM_007255.3(B4GALT7):c.617T>C (p.Leu206Pro) single nucleotide variant Ehlers-Danlos syndrome, spondylodysplastic type, 1 [RCV000005964] Chr5:177607505 [GRCh38]
Chr5:177034506 [GRCh37]
Chr5:5q35.3
pathogenic
NM_007255.3(B4GALT7):c.808C>T (p.Arg270Cys) single nucleotide variant Ehlers-Danlos syndrome, spondylodysplastic type, 1 [RCV000005965]|Lethal skeletal dysplasia [RCV000779599]|Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [RCV000258718]|not provided [RCV000413846] Chr5:177608994 [GRCh38]
Chr5:177035995 [GRCh37]
Chr5:5q35.3
pathogenic|likely pathogenic
NM_007255.3(B4GALT7):c.640-266G>A single nucleotide variant not provided [RCV001564244] Chr5:177608273 [GRCh38]
Chr5:177035274 [GRCh37]
Chr5:5q35.3
likely benign
NM_007255.3(B4GALT7):c.563C>G (p.Pro188Arg) single nucleotide variant not provided [RCV000520600] Chr5:177607451 [GRCh38]
Chr5:177034452 [GRCh37]
Chr5:5q35.3
uncertain significance
GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3 copy number gain See cases [RCV000051863] Chr5:149714592..181272151 [GRCh38]
Chr5:149094155..180699152 [GRCh37]
Chr5:149074348..180631758 [NCBI36]
Chr5:5q32-35.3
pathogenic
GRCh38/hg38 5q33.3-35.3(chr5:160029980-181269805)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]|See cases [RCV000051865] Chr5:160029980..181269805 [GRCh38]
Chr5:159456987..180696806 [GRCh37]
Chr5:159389565..180629412 [NCBI36]
Chr5:5q33.3-35.3
pathogenic
GRCh38/hg38 5q34-35.3(chr5:168689326-181269946)x3 copy number gain See cases [RCV000051866] Chr5:168689326..181269946 [GRCh38]
Chr5:168116331..180696947 [GRCh37]
Chr5:168048909..180629553 [NCBI36]
Chr5:5q34-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175851047-178365049)x3 copy number gain See cases [RCV000051867] Chr5:175851047..178365049 [GRCh38]
Chr5:175278050..177792050 [GRCh37]
Chr5:175210656..177724656 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3 copy number gain See cases [RCV000051868] Chr5:175889986..180793986 [GRCh38]
Chr5:175316989..180220986 [GRCh37]
Chr5:175249595..180153592 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175007241-179089812)x1 copy number loss See cases [RCV000052151] Chr5:175007241..179089812 [GRCh38]
Chr5:174434244..178516813 [GRCh37]
Chr5:174366850..178449419 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176043476-177995759)x1 copy number loss See cases [RCV000053127] Chr5:176043476..177995759 [GRCh38]
Chr5:175470479..177422760 [GRCh37]
Chr5:175403085..177355366 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176115257-177646633)x1 copy number loss See cases [RCV000053128] Chr5:176115257..177646633 [GRCh38]
Chr5:175542260..177073634 [GRCh37]
Chr5:175474866..177006240 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176152073-177986213)x1 copy number loss See cases [RCV000053129] Chr5:176152073..177986213 [GRCh38]
Chr5:175579076..177413214 [GRCh37]
Chr5:175511682..177345820 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176152073-177646633)x1 copy number loss See cases [RCV000053131] Chr5:176152073..177646633 [GRCh38]
Chr5:175579076..177073634 [GRCh37]
Chr5:175511682..177006240 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176149599-177716401)x3 copy number gain See cases [RCV000053481] Chr5:176149599..177716401 [GRCh38]
Chr5:175576602..177143402 [GRCh37]
Chr5:175509208..177076008 [NCBI36]
Chr5:5q35.2-35.3
pathogenic|uncertain significance
NM_007255.3(B4GALT7):c.35C>T (p.Pro12Leu) single nucleotide variant not provided [RCV000173418] Chr5:177600245 [GRCh38]
Chr5:177027246 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_007255.3(B4GALT7):c.909C>T (p.Gly303=) single nucleotide variant not provided [RCV001579469] Chr5:177609620 [GRCh38]
Chr5:177036621 [GRCh37]
Chr5:5q35.3
likely benign
GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3 copy number gain See cases [RCV000133847] Chr5:156825512..181269805 [GRCh38]
Chr5:156252523..180696806 [GRCh37]
Chr5:156185101..180629412 [NCBI36]
Chr5:5q33.3-35.3
pathogenic
GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3 copy number gain See cases [RCV000135546] Chr5:164386701..181269805 [GRCh38]
Chr5:163813707..180696806 [GRCh37]
Chr5:163746285..180629412 [NCBI36]
Chr5:5q34-35.3
pathogenic
GRCh38/hg38 5q35.3(chr5:177261458-177651722)x3 copy number gain See cases [RCV000138817] Chr5:177261458..177651722 [GRCh38]
Chr5:176688459..177078723 [GRCh37]
Chr5:176621065..177011329 [NCBI36]
Chr5:5q35.3
likely benign|uncertain significance
GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3 copy number gain See cases [RCV000141249] Chr5:169334755..181285301 [GRCh38]
Chr5:168761759..180712302 [GRCh37]
Chr5:168694337..180644908 [NCBI36]
Chr5:5q35.1-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1 copy number loss See cases [RCV000141987] Chr5:175536771..181292788 [GRCh38]
Chr5:174963774..180719789 [GRCh37]
Chr5:174896380..180652395 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175989092-178009412)x1 copy number loss See cases [RCV000142365] Chr5:175989092..178009412 [GRCh38]
Chr5:175416095..177436413 [GRCh37]
Chr5:175348701..177369019 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176132340-177995759)x1 copy number loss See cases [RCV000142510] Chr5:176132340..177995759 [GRCh38]
Chr5:175559343..177422760 [GRCh37]
Chr5:175491949..177355366 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176291838-178662699)x1 copy number loss See cases [RCV000142047] Chr5:176291838..178662699 [GRCh38]
Chr5:175718841..178089700 [GRCh37]
Chr5:175651447..178022306 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176700128-181269805)x1 copy number loss See cases [RCV000142648] Chr5:176700128..181269805 [GRCh38]
Chr5:176127129..180696806 [GRCh37]
Chr5:176059735..180629412 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176517339-177709289)x1 copy number loss See cases [RCV000142538] Chr5:176517339..177709289 [GRCh38]
Chr5:175944340..177136290 [GRCh37]
Chr5:175876946..177068896 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176143674-178009412)x1 copy number loss See cases [RCV000143463] Chr5:176143674..178009412 [GRCh38]
Chr5:175570677..177436413 [GRCh37]
Chr5:175503283..177369019 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
NM_007255.3(B4GALT7):c.122T>C (p.Leu41Pro) single nucleotide variant Ehlers-Danlos syndrome, spondylodysplastic type, 1 [RCV000210975] Chr5:177604250 [GRCh38]
Chr5:177031251 [GRCh37]
Chr5:5q35.3
pathogenic|likely pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174397487-180686444)x1 copy number loss See cases [RCV000167565] Chr5:174397487..180686444 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
NM_007255.3(B4GALT7):c.687C>T (p.Asp229=) single nucleotide variant Ehlers-Danlos syndrome, spondylodysplastic type, 1 [RCV000767902]|not provided [RCV000724512]|not specified [RCV000178286] Chr5:177608586 [GRCh38]
Chr5:177035587 [GRCh37]
Chr5:5q35.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007255.3(B4GALT7):c.38G>A (p.Trp13Ter) single nucleotide variant Ehlers-Danlos syndrome, spondylodysplastic type, 1 [RCV000344285]|not provided [RCV000725058] Chr5:177600248 [GRCh38]
Chr5:177027249 [GRCh37]
Chr5:5q35.3
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_007255.3(B4GALT7):c.641G>A (p.Cys214Tyr) single nucleotide variant Ehlers-Danlos syndrome, spondylodysplastic type, 1 [RCV000239469]|not provided [RCV001551344] Chr5:177608540 [GRCh38]
Chr5:177035541 [GRCh37]
Chr5:5q35.3
pathogenic|uncertain significance
NM_007255.3(B4GALT7):c.421C>T (p.Arg141Trp) single nucleotide variant Ehlers-Danlos syndrome, spondylodysplastic type, 1 [RCV000239499]|not provided [RCV000414159] Chr5:177607309 [GRCh38]
Chr5:177034310 [GRCh37]
Chr5:5q35.3
pathogenic|likely pathogenic
NM_007255.3(B4GALT7):c.277dup (p.His93fs) duplication Ehlers-Danlos syndrome, spondylodysplastic type, 1 [RCV000239551]|not provided [RCV001092138] Chr5:177604400..177604401 [GRCh38]
Chr5:177031401..177031402 [GRCh37]
Chr5:5q35.3
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3
likely benign
NM_007255.3(B4GALT7):c.411C>T (p.Phe137=) single nucleotide variant Ehlers-Danlos syndrome, spondylodysplastic type, 1 [RCV000625247]|not provided [RCV001200179]|not specified [RCV000273498] Chr5:177604539 [GRCh38]
Chr5:177031540 [GRCh37]
Chr5:5q35.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_007255.3(B4GALT7):c.328G>A (p.Val110Ile) single nucleotide variant not provided [RCV000276634] Chr5:177604456 [GRCh38]
Chr5:177031457 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_007255.3(B4GALT7):c.413+6G>A single nucleotide variant not provided [RCV000383750] Chr5:177604547 [GRCh38]
Chr5:177031548 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_007255.3(B4GALT7):c.791G>A (p.Arg264Gln) single nucleotide variant not provided [RCV000331849] Chr5:177608977 [GRCh38]
Chr5:177035978 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_007255.3(B4GALT7):c.489C>T (p.Asp163=) single nucleotide variant not provided [RCV000596860] Chr5:177607377 [GRCh38]
Chr5:177034378 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_007255.3(B4GALT7):c.790C>T (p.Arg264Trp) single nucleotide variant not provided [RCV000522895] Chr5:177608976 [GRCh38]
Chr5:177035977 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_007255.3(B4GALT7):c.277C>T (p.His93Tyr) single nucleotide variant Ehlers-Danlos syndrome, spondylodysplastic type, 1 [RCV000709856]|not provided [RCV000416090] Chr5:177604405 [GRCh38]
Chr5:177031406 [GRCh37]
Chr5:5q35.3
conflicting interpretations of pathogenicity|uncertain significance|not provided
GRCh37/hg19 5q35.2-35.3(chr5:174990352-180690937) copy number gain not provided [RCV000767711] Chr5:174990352..180690937 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:176274007-180719789)x1 copy number loss See cases [RCV000447018] Chr5:176274007..180719789 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
NM_007255.3(B4GALT7):c.875A>G (p.Tyr292Cys) single nucleotide variant not provided [RCV000427309] Chr5:177609586 [GRCh38]
Chr5:177036587 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_007255.3(B4GALT7):c.297G>T (p.Val99=) single nucleotide variant Ehlers-Danlos syndrome, spondylodysplastic type, 1 [RCV000948725]|not specified [RCV000441342] Chr5:177604425 [GRCh38]
Chr5:177031426 [GRCh37]
Chr5:5q35.3
benign
NM_007255.3(B4GALT7):c.387C>T (p.Tyr129=) single nucleotide variant Ehlers-Danlos syndrome, spondylodysplastic type, 1 [RCV000887807]|not provided [RCV001171973]|not specified [RCV000445263] Chr5:177604515 [GRCh38]
Chr5:177031516 [GRCh37]
Chr5:5q35.3
likely benign
NM_007255.3(B4GALT7):c.-26C>T single nucleotide variant not specified [RCV000417827] Chr5:177600185 [GRCh38]
Chr5:177027186 [GRCh37]
Chr5:5q35.3
likely benign
NM_007255.3(B4GALT7):c.777T>C (p.His259=) single nucleotide variant Ehlers-Danlos syndrome, spondylodysplastic type, 1 [RCV000615284]|not specified [RCV000417981] Chr5:177608963 [GRCh38]
Chr5:177035964 [GRCh37]
Chr5:5q35.3
benign
NM_007255.3(B4GALT7):c.828+20T>C single nucleotide variant Ehlers-Danlos syndrome, spondylodysplastic type, 1 [RCV001512223]|not specified [RCV000442168] Chr5:177609034 [GRCh38]
Chr5:177036035 [GRCh37]
Chr5:5q35.3
benign
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_007255.3(B4GALT7):c.414-20G>A single nucleotide variant Ehlers-Danlos syndrome, spondylodysplastic type, 1 [RCV001518904]|not specified [RCV000439305] Chr5:177607282 [GRCh38]
Chr5:177034283 [GRCh37]
Chr5:5q35.3
benign
NM_007255.3(B4GALT7):c.563C>T (p.Pro188Leu) single nucleotide variant not provided [RCV000439328] Chr5:177607451 [GRCh38]
Chr5:177034452 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_007255.3(B4GALT7):c.219T>C (p.Arg73=) single nucleotide variant Ehlers-Danlos syndrome, spondylodysplastic type, 1 [RCV000610551]|not specified [RCV000443201] Chr5:177604347 [GRCh38]
Chr5:177031348 [GRCh37]
Chr5:5q35.3
benign
NM_007255.3(B4GALT7):c.814G>A (p.Ala272Thr) single nucleotide variant Ehlers-Danlos syndrome, spondylodysplastic type, 1 [RCV001066223]|not provided [RCV000429366] Chr5:177609000 [GRCh38]
Chr5:177036001 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_007255.3(B4GALT7):c.723+20G>A single nucleotide variant not specified [RCV000425999] Chr5:177608642 [GRCh38]
Chr5:177035643 [GRCh37]
Chr5:5q35.3
likely benign
GRCh37/hg19 5q35.2-35.3(chr5:175722788-177423091)x3 copy number gain See cases [RCV000445774] Chr5:175722788..177423091 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:176505173-178230923)x1 copy number loss See cases [RCV000445817] Chr5:176505173..178230923 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174427052-180719789)x1 copy number loss See cases [RCV000448611] Chr5:174427052..180719789 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175601473-180100378)x1 copy number loss See cases [RCV000448793] Chr5:175601473..180100378 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3
pathogenic
GRCh37/hg19 5q35.1-35.3(chr5:171396359-180719789)x3 copy number gain See cases [RCV000448458] Chr5:171396359..180719789 [GRCh37]
Chr5:5q35.1-35.3
pathogenic
NM_007255.3(B4GALT7):c.268del (p.Trp90fs) deletion not provided [RCV000485451] Chr5:177604396 [GRCh38]
Chr5:177031397 [GRCh37]
Chr5:5q35.3
likely pathogenic
NM_007255.3(B4GALT7):c.553G>A (p.Val185Met) single nucleotide variant not provided [RCV000523049] Chr5:177607441 [GRCh38]
Chr5:177034442 [GRCh37]
Chr5:5q35.3
uncertain significance
GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3 copy number gain See cases [RCV000512068] Chr5:172031248..180719789 [GRCh37]
Chr5:5q35.1-35.3
pathogenic
NM_007255.3(B4GALT7):c.910G>C (p.Gly304Arg) single nucleotide variant not provided [RCV000479006] Chr5:177609621 [GRCh38]
Chr5:177036622 [GRCh37]
Chr5:5q35.3
uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:175438045-177392885)x1 copy number loss See cases [RCV000511974] Chr5:175438045..177392885 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_007255.3(B4GALT7):c.313T>G (p.Phe105Val) single nucleotide variant not provided [RCV000493088] Chr5:177604441 [GRCh38]
Chr5:177031442 [GRCh37]
Chr5:5q35.3
uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:175570677-177439550)x3 copy number gain See cases [RCV000511393] Chr5:175570677..177439550 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175570677-180719789)x1 copy number loss See cases [RCV000510785] Chr5:175570677..180719789 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
NM_007255.3(B4GALT7):c.555G>C (p.Val185=) single nucleotide variant not specified [RCV000606848] Chr5:177607443 [GRCh38]
Chr5:177034444 [GRCh37]
Chr5:5q35.3
likely benign
NM_007255.3(B4GALT7):c.69C>T (p.Gly23=) single nucleotide variant not specified [RCV000605351] Chr5:177604197 [GRCh38]
Chr5:177031198 [GRCh37]
Chr5:5q35.3
likely benign
NM_007255.3(B4GALT7):c.51-20C>T single nucleotide variant not specified [RCV000609769] Chr5:177604159 [GRCh38]
Chr5:177031160 [GRCh37]
Chr5:5q35.3
likely benign
NM_007255.3(B4GALT7):c.498G>A (p.Leu166=) single nucleotide variant not provided [RCV000605958] Chr5:177607386 [GRCh38]
Chr5:177034387 [GRCh37]
Chr5:5q35.3
likely benign
NM_007255.3(B4GALT7):c.717G>C (p.Gly239=) single nucleotide variant not specified [RCV000616055] Chr5:177608616 [GRCh38]
Chr5:177035617 [GRCh37]
Chr5:5q35.3
likely benign
NM_007255.3(B4GALT7):c.-36G>A single nucleotide variant not specified [RCV000613653] Chr5:177600175 [GRCh38]
Chr5:177027176 [GRCh37]
Chr5:5q35.3
likely benign
NM_007255.3(B4GALT7):c.432C>T (p.Leu144=) single nucleotide variant not provided [RCV000912661]|not specified [RCV000613668] Chr5:177607320 [GRCh38]
Chr5:177034321 [GRCh37]
Chr5:5q35.3
benign|likely benign
NM_007255.3(B4GALT7):c.413+12C>G single nucleotide variant not specified [RCV000613974] Chr5:177604553 [GRCh38]
Chr5:177031554 [GRCh37]
Chr5:5q35.3
benign
NM_007255.3(B4GALT7):c.-28G>T single nucleotide variant not specified [RCV000606473] Chr5:177600183 [GRCh38]
Chr5:177027184 [GRCh37]
Chr5:5q35.3
likely benign
NM_007255.3(B4GALT7):c.723+19C>T single nucleotide variant not specified [RCV000608753] Chr5:177608641 [GRCh38]
Chr5:177035642 [GRCh37]
Chr5:5q35.3
likely benign
NM_007255.3(B4GALT7):c.51-11G>A single nucleotide variant not specified [RCV000614389] Chr5:177604168 [GRCh38]
Chr5:177031169 [GRCh37]
Chr5:5q35.3
likely benign
NM_007255.3(B4GALT7):c.867T>C (p.Thr289=) single nucleotide variant Ehlers-Danlos syndrome, spondylodysplastic type, 1 [RCV001499709]|not specified [RCV000614603] Chr5:177609578 [GRCh38]
Chr5:177036579 [GRCh37]
Chr5:5q35.3
likely benign
GRCh37/hg19 5q35.2-35.3(chr5:175570678-177437340)x1 copy number loss See cases [RCV000512405] Chr5:175570678..177437340 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
NM_007255.3(B4GALT7):c.-31C>T single nucleotide variant not specified [RCV000605707] Chr5:177600180 [GRCh38]
Chr5:177027181 [GRCh37]
Chr5:5q35.3
likely benign
NM_007255.3(B4GALT7):c.-17C>A single nucleotide variant not specified [RCV000605829] Chr5:177600194 [GRCh38]
Chr5:177027195 [GRCh37]
Chr5:5q35.3
likely benign
Single allele duplication not provided [RCV000677989] Chr5:176798338..177423150 [GRCh37]
Chr5:5q35.3
uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:175438045-177481250)x1 copy number loss not provided [RCV000682614] Chr5:175438045..177481250 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175570677-177436413)x1 copy number loss not provided [RCV000682615] Chr5:175570677..177436413 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.3(chr5:176918345-179061393)x1 copy number loss not provided [RCV000682619] Chr5:176918345..179061393 [GRCh37]
Chr5:5q35.3
pathogenic
NM_007255.3(B4GALT7):c.185G>A (p.Arg62Lys) single nucleotide variant Ehlers-Danlos syndrome, spondylodysplastic type, 1 [RCV000709857] Chr5:177604313 [GRCh38]
Chr5:177031314 [GRCh37]
Chr5:5q35.3
uncertain significance|not provided
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_007255.3(B4GALT7):c.634C>T (p.Arg212Trp) single nucleotide variant not provided [RCV001532059] Chr5:177607522 [GRCh38]
Chr5:177034523 [GRCh37]
Chr5:5q35.3
uncertain significance
GRCh37/hg19 5q33.2-35.3(chr5:155344802-180693344)x3 copy number gain not provided [RCV000745284] Chr5:155344802..180693344 [GRCh37]
Chr5:5q33.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174832617-180693344)x3 copy number gain not provided [RCV000745336] Chr5:174832617..180693344 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175346223-177423236)x1 copy number loss not provided [RCV000745338] Chr5:175346223..177423236 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175433876-177441189)x1 copy number loss not provided [RCV000745339] Chr5:175433876..177441189 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
NM_007255.3(B4GALT7):c.374G>A (p.Arg125Gln) single nucleotide variant Ehlers-Danlos syndrome, spondylodysplastic type, 1 [RCV001053837]|not provided [RCV001538738] Chr5:177604502 [GRCh38]
Chr5:177031503 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_007255.3(B4GALT7):c.811A>C (p.Ile271Leu) single nucleotide variant not provided [RCV001577210] Chr5:177608997 [GRCh38]
Chr5:177035998 [GRCh37]
Chr5:5q35.3
uncertain significance
NC_000005.10:g.(?_177600191)_(178153837_?)dup duplication Dyskeratosis congenita [RCV001032407] Chr5:177027192..177580838 [GRCh37]
Chr5:5q35.3
uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:176305543-177422876) copy number gain not provided [RCV000767712] Chr5:176305543..177422876 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
NM_007255.3(B4GALT7):c.398A>G (p.Gln133Arg) single nucleotide variant Lethal skeletal dysplasia [RCV000779598] Chr5:177604526 [GRCh38]
Chr5:177031527 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_007255.3(B4GALT7):c.676C>T (p.Arg226Cys) single nucleotide variant Ehlers-Danlos syndrome, spondylodysplastic type, 1 [RCV000925138] Chr5:177608575 [GRCh38]
Chr5:177035576 [GRCh37]
Chr5:5q35.3
likely benign
NM_007255.3(B4GALT7):c.66C>T (p.Ser22=) single nucleotide variant Ehlers-Danlos syndrome, spondylodysplastic type, 1 [RCV001433675]|not provided [RCV000926520] Chr5:177604194 [GRCh38]
Chr5:177031195 [GRCh37]
Chr5:5q35.3
likely benign
Single allele duplication not provided [RCV000768450] Chr5:175843728..180703728 [GRCh37]
Chr5:5q35.2-35.3
likely pathogenic
NM_007255.3(B4GALT7):c.330C>T (p.Val110=) single nucleotide variant not provided [RCV000898633] Chr5:177604458 [GRCh38]
Chr5:177031459 [GRCh37]
Chr5:5q35.3
likely benign
NM_007255.3(B4GALT7):c.837C>T (p.Phe279=) single nucleotide variant not provided [RCV000899823] Chr5:177609548 [GRCh38]
Chr5:177036549 [GRCh37]
Chr5:5q35.3
likely benign
NM_007255.3(B4GALT7):c.413+60C>G single nucleotide variant Ehlers-Danlos syndrome, spondylodysplastic type, 1 [RCV000987645]|not provided [RCV000837580] Chr5:177604601 [GRCh38]
Chr5:177031602 [GRCh37]
Chr5:5q35.3
benign
NM_007255.3(B4GALT7):c.662T>C (p.Phe221Ser) single nucleotide variant Ehlers-Danlos syndrome, spondylodysplastic type, 1 [RCV000801019] Chr5:177608561 [GRCh38]
Chr5:177035562 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_007255.3(B4GALT7):c.813C>T (p.Ile271=) single nucleotide variant Ehlers-Danlos syndrome, spondylodysplastic type, 1 [RCV001426072]|not provided [RCV000841756] Chr5:177608999 [GRCh38]
Chr5:177036000 [GRCh37]
Chr5:5q35.3
likely benign
NM_007255.3(B4GALT7):c.315C>T (p.Phe105=) single nucleotide variant not provided [RCV000842324] Chr5:177604443 [GRCh38]
Chr5:177031444 [GRCh37]
Chr5:5q35.3
likely benign
NC_000005.10:g.177599798C>A single nucleotide variant not provided [RCV000832122] Chr5:177599798 [GRCh38]
Chr5:177026799 [GRCh37]
Chr5:5q35.3
likely benign
NM_007255.3(B4GALT7):c.828+28A>G single nucleotide variant Ehlers-Danlos syndrome, spondylodysplastic type, 1 [RCV001554212]|not provided [RCV000838040] Chr5:177609042 [GRCh38]
Chr5:177036043 [GRCh37]
Chr5:5q35.3
benign
NM_007255.3(B4GALT7):c.414-328C>T single nucleotide variant not provided [RCV000828755] Chr5:177606974 [GRCh38]
Chr5:177033975 [GRCh37]
Chr5:5q35.3
benign
NM_007255.3(B4GALT7):c.218_219inv (p.Arg73His) inversion Ehlers-Danlos syndrome, spondylodysplastic type, 1 [RCV000802152]|not provided [RCV001549773] Chr5:177604346..177604347 [GRCh38]
Chr5:177031347..177031348 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_007255.3(B4GALT7):c.50+9C>T single nucleotide variant Ehlers-Danlos syndrome, spondylodysplastic type, 1 [RCV001431920]|not provided [RCV000938070] Chr5:177600269 [GRCh38]
Chr5:177027270 [GRCh37]
Chr5:5q35.3
likely benign
GRCh37/hg19 5q35.3(chr5:176774402-177064884)x4 copy number gain not provided [RCV000848335] Chr5:176774402..177064884 [GRCh37]
Chr5:5q35.3
uncertain significance
GRCh37/hg19 5q35.3(chr5:176848982-180719789)x3 copy number gain not provided [RCV000847220] Chr5:176848982..180719789 [GRCh37]
Chr5:5q35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175570677-177439550)x3 copy number gain not provided [RCV000846148] Chr5:175570677..177439550 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
NM_007255.3(B4GALT7):c.225C>T (p.Cys75=) single nucleotide variant Ehlers-Danlos syndrome, spondylodysplastic type, 1 [RCV000965201]|not provided [RCV001535027] Chr5:177604353 [GRCh38]
Chr5:177031354 [GRCh37]
Chr5:5q35.3
likely benign
NM_007255.3(B4GALT7):c.639+258T>C single nucleotide variant not provided [RCV000843430] Chr5:177607785 [GRCh38]
Chr5:177034786 [GRCh37]
Chr5:5q35.3
benign
NM_007255.3(B4GALT7):c.283C>G (p.Leu95Val) single nucleotide variant Ehlers-Danlos syndrome, spondylodysplastic type, 1 [RCV000845083] Chr5:177604411 [GRCh38]
Chr5:177031412 [GRCh37]
Chr5:5q35.3
not provided
NM_007255.3(B4GALT7):c.333C>T (p.Phe111=) single nucleotide variant not provided [RCV000842532] Chr5:177604461 [GRCh38]
Chr5:177031462 [GRCh37]
Chr5:5q35.3
likely benign
NM_007255.3(B4GALT7):c.601G>A (p.Gly201Ser) single nucleotide variant not provided [RCV001092139] Chr5:177607489 [GRCh38]
Chr5:177034490 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_007255.3(B4GALT7):c.412A>C (p.Arg138=) single nucleotide variant not provided [RCV000998504] Chr5:177604540 [GRCh38]
Chr5:177031541 [GRCh37]
Chr5:5q35.3
uncertain significance
GRCh37/hg19 5q35.3(chr5:176643613-179085551)x3 copy number gain not provided [RCV000846590] Chr5:176643613..179085551 [GRCh37]
Chr5:5q35.3
uncertain significance
GRCh37/hg19 5q35.3(chr5:176732536-177260046)x1 copy number loss not provided [RCV000845642] Chr5:176732536..177260046 [GRCh37]
Chr5:5q35.3
uncertain significance
Single allele deletion Marfanoid habitus and intellectual disability [RCV000851176] Chr5:175875407..177036017 [GRCh37]
Chr5:5q35.2-35.3
likely pathogenic
NM_007255.3(B4GALT7):c.514G>A (p.Glu172Lys) single nucleotide variant not provided [RCV001566784] Chr5:177607402 [GRCh38]
Chr5:177034403 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_007255.3(B4GALT7):c.564G>A (p.Pro188=) single nucleotide variant not provided [RCV001560659] Chr5:177607452 [GRCh38]
Chr5:177034453 [GRCh37]
Chr5:5q35.3
likely benign
NM_007255.3(B4GALT7):c.413+212G>A single nucleotide variant not provided [RCV001557283] Chr5:177604753 [GRCh38]
Chr5:177031754 [GRCh37]
Chr5:5q35.3
likely benign
NM_007255.3(B4GALT7):c.541G>A (p.Gly181Arg) single nucleotide variant not provided [RCV001557572] Chr5:177607429 [GRCh38]
Chr5:177034430 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_007255.3(B4GALT7):c.828+10G>A single nucleotide variant not provided [RCV000895710] Chr5:177609024 [GRCh38]
Chr5:177036025 [GRCh37]
Chr5:5q35.3
likely benign
NM_007255.3(B4GALT7):c.589A>G (p.Lys197Glu) single nucleotide variant Ehlers-Danlos syndrome, spondylodysplastic type, 1 [RCV000902743]|not provided [RCV001564485] Chr5:177607477 [GRCh38]
Chr5:177034478 [GRCh37]
Chr5:5q35.3
likely benign
NM_007255.3(B4GALT7):c.627G>A (p.Gln209=) single nucleotide variant not provided [RCV000886695] Chr5:177607515 [GRCh38]
Chr5:177034516 [GRCh37]
Chr5:5q35.3
likely benign
NM_007255.3(B4GALT7):c.723+9C>T single nucleotide variant not provided [RCV000903373] Chr5:177608631 [GRCh38]
Chr5:177035632 [GRCh37]
Chr5:5q35.3
likely benign
NM_007255.3(B4GALT7):c.603C>T (p.Gly201=) single nucleotide variant not provided [RCV000919709] Chr5:177607491 [GRCh38]
Chr5:177034492 [GRCh37]
Chr5:5q35.3
likely benign
NM_007255.3(B4GALT7):c.522C>T (p.Asp174=) single nucleotide variant Ehlers-Danlos syndrome, spondylodysplastic type, 1 [RCV001435034]|not provided [RCV000942626] Chr5:177607410 [GRCh38]
Chr5:177034411 [GRCh37]
Chr5:5q35.3
likely benign
NM_007255.3(B4GALT7):c.697C>T (p.Arg233Trp) single nucleotide variant Ehlers-Danlos syndrome, spondylodysplastic type, 1 [RCV000981636]|not provided [RCV001564115] Chr5:177608596 [GRCh38]
Chr5:177035597 [GRCh37]
Chr5:5q35.3
likely benign|uncertain significance
NM_007255.3(B4GALT7):c.766C>T (p.Arg256Cys) single nucleotide variant not provided [RCV001556089] Chr5:177608952 [GRCh38]
Chr5:177035953 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_007255.3(B4GALT7):c.767G>A (p.Arg256His) single nucleotide variant not provided [RCV001545807] Chr5:177608953 [GRCh38]
Chr5:177035954 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_007255.3(B4GALT7):c.46G>C (p.Gly16Arg) single nucleotide variant not provided [RCV001532058] Chr5:177600256 [GRCh38]
Chr5:177027257 [GRCh37]
Chr5:5q35.3
uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:175346695-177469711)x1 copy number loss Sotos syndrome [RCV001252953] Chr5:175346695..177469711 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175570677-177114151)x3 copy number gain not provided [RCV001258712] Chr5:175570677..177114151 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
NM_007255.3(B4GALT7):c.872A>G (p.Lys291Arg) single nucleotide variant not provided [RCV001538679] Chr5:177609583 [GRCh38]
Chr5:177036584 [GRCh37]
Chr5:5q35.3
uncertain significance
GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3 copy number gain 5q35 microduplication syndrome [RCV001263227] Chr5:170805664..180719789 [GRCh37]
Chr5:5q35.1-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175394616-177436413)x3 copy number gain not provided [RCV001258713] Chr5:175394616..177436413 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
NM_007255.3(B4GALT7):c.829G>T (p.Glu277Ter) single nucleotide variant Ehlers-Danlos syndrome, spondylodysplastic type, 1 [RCV001257134] Chr5:177609540 [GRCh38]
Chr5:177036541 [GRCh37]
Chr5:5q35.3
pathogenic
NM_007255.3(B4GALT7):c.225C>A (p.Cys75Ter) single nucleotide variant Ehlers-Danlos syndrome, spondylodysplastic type, 1 [RCV001330372] Chr5:177604353 [GRCh38]
Chr5:177031354 [GRCh37]
Chr5:5q35.3
pathogenic
NC_000005.9:g.(?_177027192)_(177580838_?)dup duplication Dyskeratosis congenita [RCV001309461] Chr5:177027192..177580838 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_007255.3(B4GALT7):c.658C>T (p.Arg220Cys) single nucleotide variant Ehlers-Danlos syndrome, spondylodysplastic type, 1 [RCV001323453] Chr5:177608557 [GRCh38]
Chr5:177035558 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_007255.3(B4GALT7):c.959C>A (p.Ala320Asp) single nucleotide variant Ehlers-Danlos syndrome, spondylodysplastic type, 1 [RCV001335541] Chr5:177609670 [GRCh38]
Chr5:177036671 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_007255.3(B4GALT7):c.761C>T (p.Thr254Ile) single nucleotide variant Ehlers-Danlos syndrome, spondylodysplastic type, 1 [RCV001325133] Chr5:177608947 [GRCh38]
Chr5:177035948 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_007255.3(B4GALT7):c.278A>G (p.His93Arg) single nucleotide variant Ehlers-Danlos syndrome, spondylodysplastic type, 1 [RCV001306856] Chr5:177604406 [GRCh38]
Chr5:177031407 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_007255.3(B4GALT7):c.517C>T (p.Leu173=) single nucleotide variant Ehlers-Danlos syndrome, spondylodysplastic type, 1 [RCV001418388] Chr5:177607405 [GRCh38]
Chr5:177034406 [GRCh37]
Chr5:5q35.3
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:930 AgrOrtholog
COSMIC B4GALT7 COSMIC
Ensembl Genes ENSG00000027847 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000029410 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000420886 UniProtKB/TrEMBL
  ENSP00000423438 UniProtKB/TrEMBL
  ENSP00000423868 UniProtKB/TrEMBL
  ENSP00000425591 UniProtKB/TrEMBL
Ensembl Transcript ENST00000029410 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000505433 UniProtKB/TrEMBL
  ENST00000505468 UniProtKB/TrEMBL
  ENST00000507061 UniProtKB/TrEMBL
  ENST00000510761 UniProtKB/TrEMBL
Gene3D-CATH 3.90.550.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000027847 GTEx
HGNC ID HGNC:930 ENTREZGENE
Human Proteome Map B4GALT7 Human Proteome Map
InterPro Galactosyl_T UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Galactosyl_T_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Galactosyl_T_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucleotide-diphossugar_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:11285 UniProtKB/Swiss-Prot
NCBI Gene 11285 ENTREZGENE
OMIM 130070 OMIM
  604327 OMIM
PANTHER PTHR19300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Glyco_transf_7C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glyco_transf_7N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25229 PharmGKB
PRINTS B14GALTRFASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53448 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B3KMT1 ENTREZGENE, UniProtKB/TrEMBL
  B4GT7_HUMAN UniProtKB/Swiss-Prot
  D6RA33_HUMAN UniProtKB/TrEMBL
  D6RDJ8_HUMAN UniProtKB/TrEMBL
  D6RJI5_HUMAN UniProtKB/TrEMBL
  H0Y9D6_HUMAN UniProtKB/TrEMBL
  Q9UBV7 ENTREZGENE
UniProt Secondary B3KN39 UniProtKB/Swiss-Prot
  Q9UHN2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-28 B4GALT7  beta-1,4-galactosyltransferase 7  B4GALT7  xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7  Symbol and/or name change 5135510 APPROVED
2012-07-24 B4GALT7  xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7  B4GALT7  xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I)  Symbol and/or name change 5135510 APPROVED