B4GALNT1 (beta-1,4-N-acetyl-galactosaminyltransferase 1) - Rat Genome Database

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Gene: B4GALNT1 (beta-1,4-N-acetyl-galactosaminyltransferase 1) Homo sapiens
Analyze
Symbol: B4GALNT1
Name: beta-1,4-N-acetyl-galactosaminyltransferase 1
RGD ID: 731293
HGNC Page HGNC:4117
Description: Enables (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity. Involved in ganglioside biosynthetic process. Predicted to be located in Golgi membrane. Implicated in hereditary spastic paraplegia 26.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: (N-acetylneuraminyl)-galactosylglucosylceramide; beta-1,4 N-acetylgalactosaminyltransferase 1; beta-1,4-N-acetyl-galactosaminyl transferase 1; beta1,4GalNAc-T; beta1-4GalNAc-T; GALGT; GalNAc-T; GALNACT; GD2 synthase, GM2 synthase; GM2/GD2 synthase; spastic paraplegia 26; SPG26; UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1; UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381257,623,409 - 57,633,201 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1257,623,409 - 57,633,239 (-)EnsemblGRCh38hg38GRCh38
GRCh371258,017,192 - 58,026,984 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361256,305,818 - 56,313,252 (-)NCBINCBI36Build 36hg18NCBI36
Build 341256,305,944 - 56,313,251NCBI
Celera1257,675,366 - 57,682,800 (-)NCBICelera
Cytogenetic Map12q13.3NCBI
HuRef1255,057,363 - 55,064,728 (-)NCBIHuRef
CHM1_11257,987,494 - 57,994,836 (-)NCBICHM1_1
T2T-CHM13v2.01257,591,628 - 57,601,420 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
alpha-Zearalanol  (ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP)
bisphenol A  (ISO)
buspirone  (ISO)
buta-1,3-diene  (ISO)
cadmium dichloride  (EXP)
choline  (ISO)
clofibrate  (ISO)
cobalt dichloride  (ISO)
copper(II) chloride  (EXP)
cyclosporin A  (EXP)
diarsenic trioxide  (EXP)
dicrotophos  (EXP)
epoxiconazole  (ISO)
fenthion  (ISO)
flutamide  (ISO)
folic acid  (ISO)
gentamycin  (ISO)
inulin  (ISO)
L-methionine  (ISO)
lead diacetate  (EXP,ISO)
lipopolysaccharide  (EXP)
methapyrilene  (ISO)
methidathion  (ISO)
N-nitrosodiethylamine  (EXP)
N-Nitrosopyrrolidine  (EXP)
nickel sulfate  (EXP)
O-methyleugenol  (EXP)
oxycodone  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
pirinixic acid  (EXP,ISO)
potassium chromate  (EXP)
quercetin  (EXP)
rotenone  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
sodium arsenite  (EXP,ISO)
Soman  (ISO)
sulfadimethoxine  (ISO)
sulforaphane  (EXP)
temozolomide  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
trichloroethene  (ISO)
triptonide  (ISO)
troglitazone  (EXP)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
Golgi apparatus  (IEA,ISS)
Golgi membrane  (IEA,ISS,TAS)
membrane  (IEA,TAS)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. Online Mendelian Inheritance in Man, OMIM (TM). Online Mendelian Inheritance in Man, OMIM (TM).
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1601877   PMID:7487055   PMID:7890749   PMID:8120069   PMID:8690719   PMID:8702839   PMID:8824296   PMID:10477274   PMID:10978536   PMID:11018043   PMID:12477932   PMID:15635080  
PMID:16344560   PMID:17119850   PMID:19318031   PMID:19457569   PMID:20301682   PMID:21135695   PMID:21873635   PMID:23721779   PMID:23746551   PMID:24103911   PMID:24283893   PMID:26186194  
PMID:28514442   PMID:28698248   PMID:29117863   PMID:29983310   PMID:30463940   PMID:30521973   PMID:31075227   PMID:31491435   PMID:31988291   PMID:33367717   PMID:33961781   PMID:34907737  
PMID:35696571   PMID:35775650   PMID:37337736   PMID:37555669   PMID:39499777  


Genomics

Comparative Map Data
B4GALNT1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381257,623,409 - 57,633,201 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1257,623,409 - 57,633,239 (-)EnsemblGRCh38hg38GRCh38
GRCh371258,017,192 - 58,026,984 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361256,305,818 - 56,313,252 (-)NCBINCBI36Build 36hg18NCBI36
Build 341256,305,944 - 56,313,251NCBI
Celera1257,675,366 - 57,682,800 (-)NCBICelera
Cytogenetic Map12q13.3NCBI
HuRef1255,057,363 - 55,064,728 (-)NCBIHuRef
CHM1_11257,987,494 - 57,994,836 (-)NCBICHM1_1
T2T-CHM13v2.01257,591,628 - 57,601,420 (-)NCBIT2T-CHM13v2.0
B4galnt1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3910127,001,025 - 127,008,209 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl10127,001,094 - 127,008,199 (+)EnsemblGRCm39 Ensembl
GRCm3810127,165,156 - 127,172,340 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl10127,165,225 - 127,172,330 (+)EnsemblGRCm38mm10GRCm38
MGSCv3710126,602,281 - 126,609,386 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3610126,568,174 - 126,575,279 (+)NCBIMGSCv36mm8
Celera10129,558,182 - 129,565,363 (+)NCBICelera
Cytogenetic Map10D3NCBI
cM Map1074.5NCBI
B4galnt1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8764,873,909 - 64,881,512 (+)NCBIGRCr8
mRatBN7.2762,988,429 - 62,996,190 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl762,988,930 - 62,996,190 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx764,878,576 - 64,885,491 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0767,080,980 - 67,087,895 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0766,882,067 - 66,888,975 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0770,439,273 - 70,459,556 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl770,452,579 - 70,459,880 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0770,616,836 - 70,637,197 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4767,120,782 - 67,127,697 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1767,141,511 - 67,148,426 (+)NCBI
Celera760,130,756 - 60,137,671 (+)NCBICelera
Cytogenetic Map7q22NCBI
B4galnt1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554585,350,244 - 5,360,965 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554585,351,924 - 5,361,755 (-)NCBIChiLan1.0ChiLan1.0
B4GALNT1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21036,707,796 - 36,717,556 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11236,704,569 - 36,714,327 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01231,293,531 - 31,303,341 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11231,553,174 - 31,562,988 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1231,553,671 - 31,562,988 (+)Ensemblpanpan1.1panPan2
B4GALNT1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1101,703,846 - 1,756,837 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl101,703,169 - 1,709,994 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha101,766,846 - 1,820,023 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0101,713,025 - 1,766,212 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl101,713,029 - 1,719,832 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1101,690,802 - 1,743,968 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0101,932,513 - 1,985,865 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0102,057,788 - 2,110,916 (-)NCBIUU_Cfam_GSD_1.0
B4galnt1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494557,093,575 - 57,099,823 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366461,770,930 - 1,777,173 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366461,770,412 - 1,777,152 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
B4GALNT1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl522,889,656 - 22,897,508 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1522,889,654 - 22,897,386 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
B4GALNT1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11153,533,485 - 53,541,915 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1153,530,886 - 53,540,178 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037192,420,656 - 192,427,853 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
B4galnt1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462480210,329,296 - 10,337,283 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462480210,329,295 - 10,337,205 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in B4GALNT1
289 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001478.5(B4GALNT1):c.811+9G>C single nucleotide variant Spastic paraplegia [RCV000551641] Chr12:57629039 [GRCh38]
Chr12:58022822 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.491-9T>C single nucleotide variant Spastic paraplegia [RCV000548421] Chr12:57630527 [GRCh38]
Chr12:58024310 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.1400G>A (p.Gly467Glu) single nucleotide variant Hereditary spastic paraplegia 26 [RCV003333075]|not provided [RCV000521094] Chr12:57626946 [GRCh38]
Chr12:58020729 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.139del (p.Arg47fs) deletion Spastic paraplegia [RCV002525233]|not provided [RCV000521856] Chr12:57631994 [GRCh38]
Chr12:58025777 [GRCh37]
Chr12:12q13.3
pathogenic|likely pathogenic
NM_001478.5(B4GALNT1):c.395del (p.Pro132fs) deletion Hereditary spastic paraplegia 26 [RCV000054419] Chr12:57631075 [GRCh38]
Chr12:58024858 [GRCh37]
Chr12:12q13.3
pathogenic
NM_001478.5(B4GALNT1):c.682C>T (p.Arg228Ter) single nucleotide variant Hereditary spastic paraplegia 26 [RCV000054420] Chr12:57630182 [GRCh38]
Chr12:58023965 [GRCh37]
Chr12:12q13.3
pathogenic
NM_001478.5(B4GALNT1):c.263dup (p.Leu89fs) duplication Hereditary spastic paraplegia 26 [RCV000054421]|Inborn genetic diseases [RCV000622734]|Spastic paraplegia [RCV002515735]|not provided [RCV001009218] Chr12:57631319..57631320 [GRCh38]
Chr12:58025102..58025103 [GRCh37]
Chr12:12q13.3
pathogenic|likely pathogenic
NM_001478.5(B4GALNT1):c.358C>T (p.Gln120Ter) single nucleotide variant Hereditary spastic paraplegia 26 [RCV000054422]|not provided [RCV000760467] Chr12:57631225 [GRCh38]
Chr12:58025008 [GRCh37]
Chr12:12q13.3
pathogenic
NM_001478.5(B4GALNT1):c.1298A>C (p.Asp433Ala) single nucleotide variant Hereditary spastic paraplegia 26 [RCV000054423] Chr12:57627704 [GRCh38]
Chr12:58021487 [GRCh37]
Chr12:12q13.3
pathogenic|likely pathogenic
GRCh38/hg38 12q13.3-14.2(chr12:57013355-63042498)x1 copy number loss See cases [RCV000052813] Chr12:57013355..63042498 [GRCh38]
Chr12:57407139..63436278 [GRCh37]
Chr12:55693406..61722545 [NCBI36]
Chr12:12q13.3-14.2
pathogenic
GRCh38/hg38 12q13.3-14.1(chr12:57041158-60273934)x1 copy number loss See cases [RCV000052814] Chr12:57041158..60273934 [GRCh38]
Chr12:57434942..60667715 [GRCh37]
Chr12:55721209..58953982 [NCBI36]
Chr12:12q13.3-14.1
pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
NM_001478.5(B4GALNT1):c.793G>A (p.Gly265Arg) single nucleotide variant B4GALNT1-related disorder [RCV003919946]|Hereditary spastic paraplegia 26 [RCV001197126]|Spastic paraplegia [RCV001079815]|not provided [RCV000434157]|not specified [RCV000614254] Chr12:57629066 [GRCh38]
Chr12:58022849 [GRCh37]
Chr12:12q13.3
benign|likely benign
NM_001478.5(B4GALNT1):c.880G>A (p.Ala294Thr) single nucleotide variant B4GALNT1-related disorder [RCV003907864]|Spastic paraplegia [RCV000231465]|not provided [RCV001697257] Chr12:57628835 [GRCh38]
Chr12:58022618 [GRCh37]
Chr12:12q13.3
benign|likely benign|uncertain significance
NM_001478.5(B4GALNT1):c.1547C>T (p.Ala516Val) single nucleotide variant Spastic paraplegia [RCV001083360]|not provided [RCV000224810]|not specified [RCV000610084] Chr12:57626799 [GRCh38]
Chr12:58020582 [GRCh37]
Chr12:12q13.3
benign
NM_001478.5(B4GALNT1):c.1119G>A (p.Val373=) single nucleotide variant B4GALNT1-related disorder [RCV003937894]|Spastic paraplegia [RCV000232216]|not provided [RCV004706675]|not specified [RCV000431194] Chr12:57628146 [GRCh38]
Chr12:58021929 [GRCh37]
Chr12:12q13.3
benign|uncertain significance
NM_001478.5(B4GALNT1):c.490+1G>A single nucleotide variant not provided [RCV000489126] Chr12:57630979 [GRCh38]
Chr12:58024762 [GRCh37]
Chr12:12q13.3
likely pathogenic
NM_001478.5(B4GALNT1):c.620C>T (p.Thr207Ile) single nucleotide variant Inborn genetic diseases [RCV004037032]|Spastic paraplegia [RCV001368071] Chr12:57630244 [GRCh38]
Chr12:58024027 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1034C>T (p.Ser345Phe) single nucleotide variant not provided [RCV000490066] Chr12:57628231 [GRCh38]
Chr12:58022014 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1147G>C (p.Gly383Arg) single nucleotide variant Spastic paraplegia [RCV000548669] Chr12:57627855 [GRCh38]
Chr12:58021638 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.728A>G (p.Glu243Gly) single nucleotide variant Hereditary spastic paraplegia 26 [RCV001332013]|Spastic paraplegia [RCV000526717] Chr12:57629131 [GRCh38]
Chr12:58022914 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1556G>C (p.Arg519Pro) single nucleotide variant Spastic paraplegia [RCV001051926]|not provided [RCV004773266] Chr12:57626790 [GRCh38]
Chr12:58020573 [GRCh37]
Chr12:12q13.3
pathogenic|uncertain significance
NM_001478.5(B4GALNT1):c.218+9_218+15del deletion Spastic paraplegia [RCV000537121] Chr12:57631900..57631906 [GRCh38]
Chr12:58025683..58025689 [GRCh37]
Chr12:12q13.3
likely benign|uncertain significance
NM_001478.5(B4GALNT1):c.1048A>G (p.Lys350Glu) single nucleotide variant Hereditary spastic paraplegia 26 [RCV004783805]|Spastic paraplegia [RCV000560138]|not provided [RCV001509427] Chr12:57628217 [GRCh38]
Chr12:58022000 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.218+8C>G single nucleotide variant Spastic paraplegia [RCV000558785] Chr12:57631907 [GRCh38]
Chr12:58025690 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.1385-10C>T single nucleotide variant Spastic paraplegia [RCV000467422]|not provided [RCV001720262] Chr12:57626971 [GRCh38]
Chr12:58020754 [GRCh37]
Chr12:12q13.3
benign|likely benign
NM_001478.5(B4GALNT1):c.514G>C (p.Gly172Arg) single nucleotide variant Spastic paraplegia [RCV000473233]|not provided [RCV004708834]|not specified [RCV000438692] Chr12:57630495 [GRCh38]
Chr12:58024278 [GRCh37]
Chr12:12q13.3
benign
NM_001478.5(B4GALNT1):c.*2G>A single nucleotide variant B4GALNT1-related disorder [RCV003932658]|not provided [RCV004707252]|not specified [RCV000425571] Chr12:57626742 [GRCh38]
Chr12:58020525 [GRCh37]
Chr12:12q13.3
benign
NM_001478.5(B4GALNT1):c.1455C>G (p.Ser485=) single nucleotide variant B4GALNT1-related disorder [RCV004758014]|Spastic paraplegia [RCV000862379]|not provided [RCV001703821] Chr12:57626891 [GRCh38]
Chr12:58020674 [GRCh37]
Chr12:12q13.3
benign|likely benign
NM_001478.5(B4GALNT1):c.103C>G (p.Leu35Val) single nucleotide variant Spastic paraplegia [RCV001509966]|not provided [RCV004708832]|not specified [RCV000436855] Chr12:57632030 [GRCh38]
Chr12:58025813 [GRCh37]
Chr12:12q13.3
benign
NM_001478.5(B4GALNT1):c.666G>T (p.Leu222=) single nucleotide variant Spastic paraplegia [RCV001517091]|not provided [RCV004708833]|not specified [RCV000420464] Chr12:57630198 [GRCh38]
Chr12:57630198..57630199 [GRCh38]
Chr12:58023981 [GRCh37]
Chr12:58023981..58023982 [GRCh37]
Chr12:12q13.3
benign
NM_001478.5(B4GALNT1):c.1024C>T (p.Leu342=) single nucleotide variant Spastic paraplegia [RCV000456328]|not provided [RCV002510902]|not specified [RCV000609822] Chr12:57628241 [GRCh38]
Chr12:58022024 [GRCh37]
Chr12:12q13.3
benign
NM_001478.5(B4GALNT1):c.384-4C>T single nucleotide variant Inborn genetic diseases [RCV002526476]|Spastic paraplegia [RCV002056720]|not provided [RCV004704004] Chr12:57631090 [GRCh38]
Chr12:58024873 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.1135C>T (p.Leu379=) single nucleotide variant Spastic paraplegia [RCV000460614]|not provided [RCV001575913] Chr12:57628130 [GRCh38]
Chr12:58021913 [GRCh37]
Chr12:12q13.3
benign|likely benign
NM_001478.5(B4GALNT1):c.1434C>T (p.Asp478=) single nucleotide variant Spastic paraplegia [RCV001409439] Chr12:57626912 [GRCh38]
Chr12:58020695 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.1077C>T (p.Phe359=) single nucleotide variant Spastic paraplegia [RCV001436257] Chr12:57628188 [GRCh38]
Chr12:58021971 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.812-7A>T single nucleotide variant Spastic paraplegia [RCV000473623]|not provided [RCV001591114] Chr12:57628910 [GRCh38]
Chr12:58022693 [GRCh37]
Chr12:12q13.3
benign|likely benign
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_001478.5(B4GALNT1):c.715C>T (p.Arg239Trp) single nucleotide variant not provided [RCV000497691] Chr12:57629144 [GRCh38]
Chr12:58022927 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.509C>T (p.Ala170Val) single nucleotide variant not provided [RCV000493859] Chr12:57630500 [GRCh38]
Chr12:58024283 [GRCh37]
Chr12:12q13.3
uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_001478.5(B4GALNT1):c.584del (p.Gly195fs) deletion Hereditary spastic paraplegia 26 [RCV003317810] Chr12:57630280 [GRCh38]
Chr12:58024063 [GRCh37]
Chr12:12q13.3
pathogenic
NM_001478.5(B4GALNT1):c.218+3G>A single nucleotide variant Spastic paraplegia [RCV000633010] Chr12:57631912 [GRCh38]
Chr12:58025695 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.219-7C>T single nucleotide variant Spastic paraplegia [RCV000861336]|not specified [RCV000605992] Chr12:57631371 [GRCh38]
Chr12:58025154 [GRCh37]
Chr12:12q13.3
benign
NM_001478.5(B4GALNT1):c.1114_1119del (p.Asp372_Val373del) deletion Spastic paraplegia [RCV000533898] Chr12:57628146..57628151 [GRCh38]
Chr12:58021929..58021934 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.383+19C>T single nucleotide variant Spastic paraplegia [RCV002062829]|not provided [RCV004707358]|not specified [RCV000616725] Chr12:57631181 [GRCh38]
Chr12:58024964 [GRCh37]
Chr12:12q13.3
benign
NM_001478.5(B4GALNT1):c.532-12A>G single nucleotide variant not specified [RCV000614388] Chr12:57630344 [GRCh38]
Chr12:58024127 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.440A>G (p.Tyr147Cys) single nucleotide variant Spastic paraplegia [RCV000684952]|not provided [RCV001771928] Chr12:57631030 [GRCh38]
Chr12:58024813 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.254G>T (p.Ser85Ile) single nucleotide variant Inborn genetic diseases [RCV002532199]|Spastic paraplegia [RCV000685177] Chr12:57631329 [GRCh38]
Chr12:58025112 [GRCh37]
Chr12:12q13.3
uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12q13.3(chr12:58023981-58028934)x0 copy number loss not provided [RCV000750423] Chr12:58023981..58028934 [GRCh37]
Chr12:12q13.3
benign
GRCh37/hg19 12q13.3(chr12:58026786-58028934)x0 copy number loss not provided [RCV000750424] Chr12:58026786..58028934 [GRCh37]
Chr12:12q13.3
benign
NM_001478.5(B4GALNT1):c.531+72G>A single nucleotide variant not provided [RCV001585086] Chr12:57630406 [GRCh38]
Chr12:58024189 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.1445dup (p.Asp482fs) duplication Spastic paraplegia [RCV001056981] Chr12:57626900..57626901 [GRCh38]
Chr12:58020683..58020684 [GRCh37]
Chr12:12q13.3
pathogenic
NM_001478.5(B4GALNT1):c.192G>T (p.Pro64=) single nucleotide variant not provided [RCV000921569] Chr12:57631941 [GRCh38]
Chr12:58025724 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.1503C>T (p.Tyr501=) single nucleotide variant Spastic paraplegia [RCV001462975] Chr12:57626843 [GRCh38]
Chr12:58020626 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.532-2A>G single nucleotide variant Hereditary spastic paraplegia 26 [RCV002051912]|Spastic paraplegia [RCV001040708] Chr12:57630334 [GRCh38]
Chr12:58024117 [GRCh37]
Chr12:12q13.3
pathogenic|likely pathogenic
NM_001478.5(B4GALNT1):c.1545G>A (p.Met515Ile) single nucleotide variant Hereditary spastic paraplegia 26 [RCV003456177]|Inborn genetic diseases [RCV002551356]|Spastic paraplegia [RCV001036428]|not provided [RCV001799722] Chr12:57626801 [GRCh38]
Chr12:58020584 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.828C>T (p.Ser276=) single nucleotide variant Spastic paraplegia [RCV000868869] Chr12:57628887 [GRCh38]
Chr12:58022670 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.1272C>T (p.Val424=) single nucleotide variant Spastic paraplegia [RCV000862276] Chr12:57627730 [GRCh38]
Chr12:58021513 [GRCh37]
Chr12:12q13.3
benign
NM_001478.5(B4GALNT1):c.1272C>G (p.Val424=) single nucleotide variant Spastic paraplegia [RCV001426425] Chr12:57627730 [GRCh38]
Chr12:58021513 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.153G>A (p.Leu51=) single nucleotide variant Spastic paraplegia [RCV000863517] Chr12:57631980 [GRCh38]
Chr12:58025763 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.996C>T (p.Phe332=) single nucleotide variant B4GALNT1-related disorder [RCV003908154]|Spastic paraplegia [RCV000861232]|not provided [RCV001815447] Chr12:57628719 [GRCh38]
Chr12:58022502 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.585A>G (p.Gly195=) single nucleotide variant Spastic paraplegia [RCV000862518] Chr12:57630279 [GRCh38]
Chr12:58024062 [GRCh37]
Chr12:12q13.3
benign
NM_001478.5(B4GALNT1):c.292C>T (p.Arg98Ter) single nucleotide variant Spastic paraplegia [RCV000809876] Chr12:57631291 [GRCh38]
Chr12:58025074 [GRCh37]
Chr12:12q13.3
pathogenic
NM_001478.5(B4GALNT1):c.712+342T>G single nucleotide variant not provided [RCV000839930] Chr12:57629810 [GRCh38]
Chr12:58023593 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.800T>C (p.Leu267Pro) single nucleotide variant Spastic paraplegia [RCV000807817] Chr12:57629059 [GRCh38]
Chr12:58022842 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.514G>A (p.Gly172Ser) single nucleotide variant Spastic paraplegia [RCV000792693] Chr12:57630495 [GRCh38]
Chr12:58024278 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1378C>T (p.His460Tyr) single nucleotide variant Spastic paraplegia [RCV000803471] Chr12:57627624 [GRCh38]
Chr12:58021407 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.326C>A (p.Ala109Glu) single nucleotide variant Spastic paraplegia [RCV000822359] Chr12:57631257 [GRCh38]
Chr12:58025040 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.380C>T (p.Ser127Leu) single nucleotide variant Spastic paraplegia [RCV000822085]|not provided [RCV001759615] Chr12:57631203 [GRCh38]
Chr12:58024986 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.260G>A (p.Gly87Glu) single nucleotide variant Spastic paraplegia [RCV000799927] Chr12:57631323 [GRCh38]
Chr12:58025106 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.371C>A (p.Ala124Asp) single nucleotide variant Spastic paraplegia [RCV002549573] Chr12:57631212 [GRCh38]
Chr12:58024995 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.727G>A (p.Glu243Lys) single nucleotide variant Spastic paraplegia [RCV001500027] Chr12:57629132 [GRCh38]
Chr12:58022915 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.256G>T (p.Gly86Trp) single nucleotide variant Spastic paraplegia [RCV001220542] Chr12:57631327 [GRCh38]
Chr12:58025110 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.251C>G (p.Ser84Cys) single nucleotide variant Spastic paraplegia [RCV001209278] Chr12:57631332 [GRCh38]
Chr12:58025115 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.592C>T (p.Leu198Phe) single nucleotide variant Spastic paraplegia [RCV001204381] Chr12:57630272 [GRCh38]
Chr12:58024055 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1162_1164dup (p.Glu388dup) duplication not provided [RCV001249257] Chr12:57627837..57627838 [GRCh38]
Chr12:58021620..58021621 [GRCh37]
Chr12:12q13.3
uncertain significance|not provided
NM_001478.5(B4GALNT1):c.245G>A (p.Cys82Tyr) single nucleotide variant Spastic paraplegia [RCV001208108] Chr12:57631338 [GRCh38]
Chr12:58025121 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1210C>T (p.Pro404Ser) single nucleotide variant Inborn genetic diseases [RCV003162126]|Spastic paraplegia [RCV003104957] Chr12:57627792 [GRCh38]
Chr12:58021575 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.491-84G>A single nucleotide variant not provided [RCV001679223] Chr12:57630602 [GRCh38]
Chr12:58024385 [GRCh37]
Chr12:12q13.3
benign
NM_001478.5(B4GALNT1):c.490+137C>G single nucleotide variant not provided [RCV001717102] Chr12:57630843 [GRCh38]
Chr12:58024626 [GRCh37]
Chr12:12q13.3
benign
NM_001478.5(B4GALNT1):c.-1-105T>C single nucleotide variant not provided [RCV001534437] Chr12:57632238 [GRCh38]
Chr12:58026021 [GRCh37]
Chr12:12q13.3
benign
NM_001478.5(B4GALNT1):c.303C>T (p.Asp101=) single nucleotide variant Spastic paraplegia [RCV001428787] Chr12:57631280 [GRCh38]
Chr12:58025063 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.912A>G (p.Pro304=) single nucleotide variant Spastic paraplegia [RCV001432713] Chr12:57628803 [GRCh38]
Chr12:58022586 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.768G>A (p.Pro256=) single nucleotide variant Spastic paraplegia [RCV000861174]|not provided [RCV001776066] Chr12:57629091 [GRCh38]
Chr12:58022874 [GRCh37]
Chr12:12q13.3
benign|likely benign
NM_001478.5(B4GALNT1):c.816G>A (p.Gln272=) single nucleotide variant Spastic paraplegia [RCV002539128] Chr12:57628899 [GRCh38]
Chr12:58022682 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.600A>G (p.Gly200=) single nucleotide variant Spastic paraplegia [RCV001451035] Chr12:57630264 [GRCh38]
Chr12:58024047 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.1124A>C (p.Glu375Ala) single nucleotide variant Spastic paraplegia [RCV001218620] Chr12:57628141 [GRCh38]
Chr12:58021924 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1002G>T (p.Lys334Asn) single nucleotide variant Hereditary spastic paraplegia 26 [RCV001391542]|Spastic paraplegia [RCV001218621] Chr12:57628713 [GRCh38]
Chr12:58022496 [GRCh37]
Chr12:12q13.3
pathogenic|uncertain significance
NM_001478.5(B4GALNT1):c.191C>G (p.Pro64Arg) single nucleotide variant Inborn genetic diseases [RCV002563866]|Spastic paraplegia [RCV001236601] Chr12:57631942 [GRCh38]
Chr12:58025725 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.491-5C>T single nucleotide variant not provided [RCV000891140] Chr12:57630523 [GRCh38]
Chr12:58024306 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.118T>G (p.Trp40Gly) single nucleotide variant not provided [RCV001557507] Chr12:57632015 [GRCh38]
Chr12:58025798 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1385-189C>T single nucleotide variant not provided [RCV001675442] Chr12:57627150 [GRCh38]
Chr12:58020933 [GRCh37]
Chr12:12q13.3
benign
NM_001478.5(B4GALNT1):c.218+202G>T single nucleotide variant not provided [RCV001638760] Chr12:57631713 [GRCh38]
Chr12:58025496 [GRCh37]
Chr12:12q13.3
benign
GRCh37/hg19 12q13.3-14.1(chr12:57582163-59031979)x1 copy number loss not provided [RCV001006506] Chr12:57582163..59031979 [GRCh37]
Chr12:12q13.3-14.1
likely pathogenic
NM_001478.5(B4GALNT1):c.-1-85C>T single nucleotide variant not provided [RCV001714666] Chr12:57632218 [GRCh38]
Chr12:58026001 [GRCh37]
Chr12:12q13.3
benign
NM_001478.5(B4GALNT1):c.491-91CT[3] microsatellite not provided [RCV001674252] Chr12:57630605..57630606 [GRCh38]
Chr12:58024388..58024389 [GRCh37]
Chr12:12q13.3
benign
NM_001478.5(B4GALNT1):c.1003-29C>T single nucleotide variant not provided [RCV001686980] Chr12:57628291 [GRCh38]
Chr12:58022074 [GRCh37]
Chr12:12q13.3
benign
GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3 copy number gain not provided [RCV001006505] Chr12:55552371..62126304 [GRCh37]
Chr12:12q13.2-14.1
pathogenic
NM_001478.5(B4GALNT1):c.1088C>G (p.Ala363Gly) single nucleotide variant Hereditary spastic paraplegia 26 [RCV001535452]|Spastic paraplegia [RCV001055512] Chr12:57628177 [GRCh38]
Chr12:58021960 [GRCh37]
Chr12:12q13.3
uncertain significance|not provided
NM_001478.5(B4GALNT1):c.1385-81C>T single nucleotide variant not provided [RCV001588145] Chr12:57627042 [GRCh38]
Chr12:58020825 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.713-85_713-84del microsatellite not provided [RCV001679860] Chr12:57629230..57629231 [GRCh38]
Chr12:58023013..58023014 [GRCh37]
Chr12:12q13.3
benign
NM_001478.5(B4GALNT1):c.-1-243T>A single nucleotide variant not provided [RCV001611813] Chr12:57632376 [GRCh38]
Chr12:58026159 [GRCh37]
Chr12:12q13.3
benign
NM_001478.5(B4GALNT1):c.*167T>C single nucleotide variant not provided [RCV001648071] Chr12:57626577 [GRCh38]
Chr12:58020360 [GRCh37]
Chr12:12q13.3
benign
NM_001478.5(B4GALNT1):c.712+194G>A single nucleotide variant not provided [RCV001585322] Chr12:57629958 [GRCh38]
Chr12:58023741 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.1384+206del deletion not provided [RCV001530668] Chr12:57627412 [GRCh38]
Chr12:58021195 [GRCh37]
Chr12:12q13.3
benign
NM_001478.5(B4GALNT1):c.931G>A (p.Ala311Thr) single nucleotide variant Spastic paraplegia [RCV001042120] Chr12:57628784 [GRCh38]
Chr12:58022567 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.106C>T (p.Pro36Ser) single nucleotide variant Spastic paraplegia [RCV001043142] Chr12:57632027 [GRCh38]
Chr12:58025810 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.98T>C (p.Leu33Pro) single nucleotide variant Spastic paraplegia [RCV001236160] Chr12:57632035 [GRCh38]
Chr12:58025818 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.871C>T (p.Arg291Trp) single nucleotide variant Spastic paraplegia [RCV001040937] Chr12:57628844 [GRCh38]
Chr12:58022627 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1438G>T (p.Val480Leu) single nucleotide variant Spastic paraplegia [RCV001228565] Chr12:57626908 [GRCh38]
Chr12:58020691 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.863G>A (p.Arg288His) single nucleotide variant Spastic paraplegia [RCV001348269] Chr12:57628852 [GRCh38]
Chr12:58022635 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.219-7C>A single nucleotide variant Spastic paraplegia [RCV001341833] Chr12:57631371 [GRCh38]
Chr12:58025154 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.14G>T (p.Arg5Leu) single nucleotide variant Spastic paraplegia [RCV001296038] Chr12:57632119 [GRCh38]
Chr12:58025902 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1438G>A (p.Val480Met) single nucleotide variant Spastic paraplegia [RCV001338978] Chr12:57626908 [GRCh38]
Chr12:58020691 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1144-7C>T single nucleotide variant B4GALNT1-related disorder [RCV003953651]|Spastic paraplegia [RCV001412075]|not provided [RCV001310998] Chr12:57627865 [GRCh38]
Chr12:58021648 [GRCh37]
Chr12:12q13.3
likely benign|uncertain significance
NM_001478.5(B4GALNT1):c.93C>T (p.Pro31=) single nucleotide variant not provided [RCV004598985] Chr12:57632040 [GRCh38]
Chr12:58025823 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.-233C>A single nucleotide variant not provided [RCV001813882] Chr12:57633003 [GRCh38]
Chr12:58026786 [GRCh37]
Chr12:12q13.3
benign
NM_001478.5(B4GALNT1):c.1513C>T (p.Arg505Cys) single nucleotide variant Hereditary spastic paraplegia 26 [RCV001391544] Chr12:57626833 [GRCh38]
Chr12:58020616 [GRCh37]
Chr12:12q13.3
pathogenic
NM_001478.5(B4GALNT1):c.603G>A (p.Glu201=) single nucleotide variant Spastic paraplegia [RCV001433549] Chr12:57630261 [GRCh38]
Chr12:58024044 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.512C>T (p.Ser171Phe) single nucleotide variant Hereditary spastic paraplegia 26 [RCV003223343]|Spastic paraplegia [RCV001297102] Chr12:57630497 [GRCh38]
Chr12:58024280 [GRCh37]
Chr12:12q13.3
pathogenic|likely benign|uncertain significance
NM_001478.5(B4GALNT1):c.601G>C (p.Glu201Gln) single nucleotide variant Spastic paraplegia [RCV001338188] Chr12:57630263 [GRCh38]
Chr12:58024046 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1432G>A (p.Asp478Asn) single nucleotide variant Spastic paraplegia [RCV001347671] Chr12:57626914 [GRCh38]
Chr12:58020697 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.46G>T (p.Ala16Ser) single nucleotide variant Spastic paraplegia [RCV001364367] Chr12:57632087 [GRCh38]
Chr12:58025870 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1415G>C (p.Arg472Pro) single nucleotide variant Hereditary spastic paraplegia 26 [RCV001391543] Chr12:57626931 [GRCh38]
Chr12:58020714 [GRCh37]
Chr12:12q13.3
pathogenic
NM_001478.5(B4GALNT1):c.877C>T (p.Arg293Trp) single nucleotide variant Spastic paraplegia [RCV001300234] Chr12:57628838 [GRCh38]
Chr12:58022621 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1029C>G (p.Ala343=) single nucleotide variant Spastic paraplegia [RCV001474990] Chr12:57628236 [GRCh38]
Chr12:58022019 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.822C>T (p.Asn274=) single nucleotide variant Spastic paraplegia [RCV001448734] Chr12:57628893 [GRCh38]
Chr12:58022676 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.1384+310C>G single nucleotide variant not provided [RCV001541048] Chr12:57627308 [GRCh38]
Chr12:57627308..57627309 [GRCh38]
Chr12:58021091 [GRCh37]
Chr12:58021091..58021092 [GRCh37]
Chr12:12q13.3
benign
NM_001478.5(B4GALNT1):c.1514G>A (p.Arg505His) single nucleotide variant Spastic paraplegia [RCV001387496] Chr12:57626832 [GRCh38]
Chr12:58020615 [GRCh37]
Chr12:12q13.3
pathogenic
NM_001478.5(B4GALNT1):c.48C>A (p.Ala16=) single nucleotide variant Spastic paraplegia [RCV001426891] Chr12:57632085 [GRCh38]
Chr12:58025868 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.383+1G>A single nucleotide variant Spastic paraplegia [RCV002568203]|not provided [RCV001532207] Chr12:57631199 [GRCh38]
Chr12:58024982 [GRCh37]
Chr12:12q13.3
likely pathogenic
NM_001478.5(B4GALNT1):c.899G>A (p.Arg300His) single nucleotide variant Spastic paraplegia [RCV002564291]|not provided [RCV001509429] Chr12:57628816 [GRCh38]
Chr12:58022599 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.779G>A (p.Arg260Gln) single nucleotide variant not provided [RCV001509430] Chr12:57629080 [GRCh38]
Chr12:58022863 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.767C>T (p.Pro256Leu) single nucleotide variant Spastic paraplegia [RCV001865962]|not provided [RCV001509431] Chr12:57629092 [GRCh38]
Chr12:58022875 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1384+205_1384+206del deletion not provided [RCV001650588] Chr12:57627412..57627413 [GRCh38]
Chr12:58021195..58021196 [GRCh37]
Chr12:12q13.3
benign
NM_001478.5(B4GALNT1):c.1059G>A (p.Leu353=) single nucleotide variant Spastic paraplegia [RCV001488916] Chr12:57628206 [GRCh38]
Chr12:58021989 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.760A>C (p.Arg254=) single nucleotide variant Spastic paraplegia [RCV001436052] Chr12:57629099 [GRCh38]
Chr12:58022882 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.1189C>T (p.Arg397Trp) single nucleotide variant Spastic paraplegia [RCV001882564]|not provided [RCV001509426] Chr12:57627813 [GRCh38]
Chr12:58021596 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1008G>C (p.Trp336Cys) single nucleotide variant Spastic paraplegia [RCV002564290]|not provided [RCV001509428] Chr12:57628257 [GRCh38]
Chr12:58022040 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.501T>A (p.Leu167=) single nucleotide variant Spastic paraplegia [RCV001480876] Chr12:57630508 [GRCh38]
Chr12:58024291 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.*2667C>T single nucleotide variant not provided [RCV003395432]|not specified [RCV002247008] Chr12:57624077 [GRCh38]
Chr12:58017860 [GRCh37]
Chr12:12q13.3
likely benign|uncertain significance
NM_001478.5(B4GALNT1):c.1003-37T>C single nucleotide variant not provided [RCV001779630] Chr12:57628299 [GRCh38]
Chr12:58022082 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.1031T>C (p.Val344Ala) single nucleotide variant not provided [RCV001779657] Chr12:57628234 [GRCh38]
Chr12:58022017 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1349G>A (p.Gly450Asp) single nucleotide variant not provided [RCV001763323] Chr12:57627653 [GRCh38]
Chr12:58021436 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.214G>A (p.Val72Met) single nucleotide variant not provided [RCV001763245] Chr12:57631919 [GRCh38]
Chr12:58025702 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.621C>T (p.Thr207=) single nucleotide variant not provided [RCV001815745] Chr12:57630243 [GRCh38]
Chr12:58024026 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.791C>G (p.Pro264Arg) single nucleotide variant not provided [RCV001779654] Chr12:57629068 [GRCh38]
Chr12:58022851 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.515_518delinsAC (p.Gly172fs) indel not provided [RCV001817988] Chr12:57630491..57630494 [GRCh38]
Chr12:58024274..58024277 [GRCh37]
Chr12:12q13.3
likely pathogenic
NM_001478.5(B4GALNT1):c.503A>G (p.Gln168Arg) single nucleotide variant Spastic paraplegia [RCV001863488] Chr12:57630506 [GRCh38]
Chr12:58024289 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.661C>T (p.Gln221Ter) single nucleotide variant Spastic paraplegia [RCV002007570] Chr12:57630203 [GRCh38]
Chr12:58023986 [GRCh37]
Chr12:12q13.3
pathogenic
NM_001478.5(B4GALNT1):c.431C>T (p.Pro144Leu) single nucleotide variant Inborn genetic diseases [RCV004041682]|Spastic paraplegia [RCV001893669] Chr12:57631039 [GRCh38]
Chr12:58024822 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.217G>A (p.Gly73Arg) single nucleotide variant Spastic paraplegia [RCV001896110] Chr12:57631916 [GRCh38]
Chr12:58025699 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.829G>A (p.Ala277Thr) single nucleotide variant Spastic paraplegia [RCV001892425] Chr12:57628886 [GRCh38]
Chr12:58022669 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.107C>T (p.Pro36Leu) single nucleotide variant Spastic paraplegia [RCV001905331] Chr12:57632026 [GRCh38]
Chr12:58025809 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.997G>A (p.Gly333Ser) single nucleotide variant Spastic paraplegia [RCV001939749] Chr12:57628718 [GRCh38]
Chr12:58022501 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1435G>A (p.Val479Ile) single nucleotide variant Spastic paraplegia [RCV001961227] Chr12:57626911 [GRCh38]
Chr12:58020694 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1002+4T>C single nucleotide variant Spastic paraplegia [RCV001976107] Chr12:57628709 [GRCh38]
Chr12:58022492 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.807G>C (p.Gln269His) single nucleotide variant Spastic paraplegia [RCV002018229] Chr12:57629052 [GRCh38]
Chr12:58022835 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.757A>G (p.Ile253Val) single nucleotide variant Spastic paraplegia [RCV001931181] Chr12:57629102 [GRCh38]
Chr12:58022885 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1395G>A (p.Leu465=) single nucleotide variant Spastic paraplegia [RCV001877663] Chr12:57626951 [GRCh38]
Chr12:58020734 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1217C>A (p.Ala406Asp) single nucleotide variant Spastic paraplegia [RCV001902079] Chr12:57627785 [GRCh38]
Chr12:58021568 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1384+205T>A single nucleotide variant not provided [RCV002034788] Chr12:57627413 [GRCh38]
Chr12:58021196 [GRCh37]
Chr12:12q13.3
benign
NM_001478.5(B4GALNT1):c.958G>A (p.Val320Ile) single nucleotide variant Spastic paraplegia [RCV001938497] Chr12:57628757 [GRCh38]
Chr12:58022540 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.263del (p.Gly88fs) deletion Spastic paraplegia [RCV002035395] Chr12:57631320 [GRCh38]
Chr12:58025103 [GRCh37]
Chr12:12q13.3
pathogenic
NM_001478.5(B4GALNT1):c.1204G>A (p.Val402Met) single nucleotide variant Spastic paraplegia [RCV002032337] Chr12:57627798 [GRCh38]
Chr12:58021581 [GRCh37]
Chr12:12q13.3
uncertain significance
NC_000012.11:g.(?_57881874)_(58190366_?)dup duplication not provided [RCV001916382] Chr12:57881874..58190366 [GRCh37]
Chr12:12q13.3-14.1
uncertain significance
NM_001478.5(B4GALNT1):c.201C>A (p.Ile67=) single nucleotide variant Spastic paraplegia [RCV002085826] Chr12:57631932 [GRCh38]
Chr12:58025715 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.1311C>T (p.Asn437=) single nucleotide variant Spastic paraplegia [RCV002109881] Chr12:57627691 [GRCh38]
Chr12:58021474 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.591T>G (p.Thr197=) single nucleotide variant Spastic paraplegia [RCV002107549] Chr12:57630273 [GRCh38]
Chr12:58024056 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.1002+18T>C single nucleotide variant Spastic paraplegia [RCV002185380] Chr12:57628695 [GRCh38]
Chr12:58022478 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.1002+13_1002+15del deletion Spastic paraplegia [RCV002092293] Chr12:57628698..57628700 [GRCh38]
Chr12:58022481..58022483 [GRCh37]
Chr12:12q13.3
benign
NM_001478.5(B4GALNT1):c.1431C>T (p.Ser477=) single nucleotide variant Spastic paraplegia [RCV002085702] Chr12:57626915 [GRCh38]
Chr12:58020698 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.432G>A (p.Pro144=) single nucleotide variant B4GALNT1-related disorder [RCV003941283]|Spastic paraplegia [RCV002072854] Chr12:57631038 [GRCh38]
Chr12:58024821 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.525A>G (p.Val175=) single nucleotide variant Spastic paraplegia [RCV002117049] Chr12:57630484 [GRCh38]
Chr12:58024267 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.1212C>T (p.Pro404=) single nucleotide variant Spastic paraplegia [RCV002105161] Chr12:57627790 [GRCh38]
Chr12:58021573 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.1384+14C>G single nucleotide variant Spastic paraplegia [RCV002147931] Chr12:57627604 [GRCh38]
Chr12:58021387 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.383+20G>A single nucleotide variant Spastic paraplegia [RCV002132816] Chr12:57631180 [GRCh38]
Chr12:58024963 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.219-8C>T single nucleotide variant Spastic paraplegia [RCV002114961] Chr12:57631372 [GRCh38]
Chr12:58025155 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.381G>A (p.Ser127=) single nucleotide variant Spastic paraplegia [RCV002123179] Chr12:57631202 [GRCh38]
Chr12:58024985 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.1095G>A (p.Thr365=) single nucleotide variant Spastic paraplegia [RCV002137094] Chr12:57628170 [GRCh38]
Chr12:58021953 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.658C>T (p.Leu220=) single nucleotide variant Spastic paraplegia [RCV002156689] Chr12:57630206 [GRCh38]
Chr12:58023989 [GRCh37]
Chr12:12q13.3
likely benign
NC_000012.11:g.(?_57971476)_(58025915_?)dup duplication Spastic paraplegia [RCV003113623] Chr12:57971476..58025915 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.754C>A (p.Arg252Ser) single nucleotide variant Spastic paraplegia [RCV003114862] Chr12:57629105 [GRCh38]
Chr12:58022888 [GRCh37]
Chr12:12q13.3
uncertain significance
NC_000012.11:g.(?_57534470)_(58190366_?)dup duplication Familial melanoma [RCV003119257] Chr12:57534470..58190366 [GRCh37]
Chr12:12q13.3-14.1
uncertain significance
NM_001478.5(B4GALNT1):c.*1325G>A single nucleotide variant not provided [RCV004694200]|not specified [RCV002247010] Chr12:57625419 [GRCh38]
Chr12:58019202 [GRCh37]
Chr12:12q13.3
conflicting interpretations of pathogenicity|uncertain significance
NM_001478.5(B4GALNT1):c.344C>T (p.Ser115Phe) single nucleotide variant not provided [RCV002261945] Chr12:57631239 [GRCh38]
Chr12:58025022 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.718T>C (p.Phe240Leu) single nucleotide variant not provided [RCV002261944] Chr12:57629141 [GRCh38]
Chr12:58022924 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.866A>T (p.Tyr289Phe) single nucleotide variant Spastic paraplegia [RCV002297261] Chr12:57628849 [GRCh38]
Chr12:58022632 [GRCh37]
Chr12:12q13.3
uncertain significance
GRCh37/hg19 12q13.3-14.1(chr12:57631073-58236597)x1 copy number loss not provided [RCV002474565] Chr12:57631073..58236597 [GRCh37]
Chr12:12q13.3-14.1
likely pathogenic
NM_001478.5(B4GALNT1):c.1317C>A (p.Phe439Leu) single nucleotide variant Spastic paraplegia [RCV002302971] Chr12:57627685 [GRCh38]
Chr12:58021468 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.830C>G (p.Ala277Gly) single nucleotide variant Spastic paraplegia [RCV002296160] Chr12:57628885 [GRCh38]
Chr12:58022668 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1003-17A>T single nucleotide variant Spastic paraplegia [RCV003074336] Chr12:57628279 [GRCh38]
Chr12:58022062 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.973G>C (p.Val325Leu) single nucleotide variant Inborn genetic diseases [RCV002778279] Chr12:57628742 [GRCh38]
Chr12:58022525 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1094C>G (p.Thr365Arg) single nucleotide variant Inborn genetic diseases [RCV002883475]|not provided [RCV003319546] Chr12:57628171 [GRCh38]
Chr12:58021954 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1533C>G (p.Asp511Glu) single nucleotide variant Spastic paraplegia [RCV002908551] Chr12:57626813 [GRCh38]
Chr12:58020596 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.139C>T (p.Arg47Cys) single nucleotide variant Spastic paraplegia [RCV002815685] Chr12:57631994 [GRCh38]
Chr12:58025777 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1241G>C (p.Arg414Pro) single nucleotide variant Inborn genetic diseases [RCV002882450] Chr12:57627761 [GRCh38]
Chr12:58021544 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1071C>A (p.Asp357Glu) single nucleotide variant Spastic paraplegia [RCV003034888] Chr12:57628194 [GRCh38]
Chr12:58021977 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1541A>G (p.Gln514Arg) single nucleotide variant Spastic paraplegia [RCV002882121] Chr12:57626805 [GRCh38]
Chr12:58020588 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1389C>A (p.Phe463Leu) single nucleotide variant Spastic paraplegia [RCV003012027] Chr12:57626957 [GRCh38]
Chr12:58020740 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.7C>T (p.Leu3=) single nucleotide variant Spastic paraplegia [RCV003095331] Chr12:57632126 [GRCh38]
Chr12:58025909 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.252C>A (p.Ser84=) single nucleotide variant not provided [RCV002511739] Chr12:57631331 [GRCh38]
Chr12:58025114 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.1052A>C (p.Tyr351Ser) single nucleotide variant Spastic paraplegia [RCV002726388] Chr12:57628213 [GRCh38]
Chr12:58021996 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.219-9C>T single nucleotide variant Spastic paraplegia [RCV002615142] Chr12:57631373 [GRCh38]
Chr12:58025156 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.863_870dup (p.Arg291fs) duplication Inborn genetic diseases [RCV002883477] Chr12:57628844..57628845 [GRCh38]
Chr12:58022627..58022628 [GRCh37]
Chr12:12q13.3
pathogenic
NM_001478.5(B4GALNT1):c.1384+7G>A single nucleotide variant Spastic paraplegia [RCV002975130] Chr12:57627611 [GRCh38]
Chr12:58021394 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1470T>C (p.Pro490=) single nucleotide variant Spastic paraplegia [RCV002908576] Chr12:57626876 [GRCh38]
Chr12:58020659 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.447A>T (p.Leu149=) single nucleotide variant Spastic paraplegia [RCV002903064] Chr12:57631023 [GRCh38]
Chr12:58024806 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.847A>C (p.Thr283Pro) single nucleotide variant Inborn genetic diseases [RCV002841038] Chr12:57628868 [GRCh38]
Chr12:58022651 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.460G>A (p.Val154Ile) single nucleotide variant Spastic paraplegia [RCV002947511] Chr12:57631010 [GRCh38]
Chr12:58024793 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.495G>A (p.Leu165=) single nucleotide variant Spastic paraplegia [RCV002949332] Chr12:57630514 [GRCh38]
Chr12:58024297 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.14G>A (p.Arg5His) single nucleotide variant Spastic paraplegia [RCV002780770] Chr12:57632119 [GRCh38]
Chr12:58025902 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1455C>T (p.Ser485=) single nucleotide variant Spastic paraplegia [RCV002705626] Chr12:57626891 [GRCh38]
Chr12:58020674 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.780G>A (p.Arg260=) single nucleotide variant Spastic paraplegia [RCV002885592] Chr12:57629079 [GRCh38]
Chr12:58022862 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.384-1G>A single nucleotide variant Inborn genetic diseases [RCV002887786] Chr12:57631087 [GRCh38]
Chr12:58024870 [GRCh37]
Chr12:12q13.3
likely pathogenic
NM_001478.5(B4GALNT1):c.1170C>T (p.Ser390=) single nucleotide variant Spastic paraplegia [RCV002976406] Chr12:57627832 [GRCh38]
Chr12:58021615 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.466C>T (p.Pro156Ser) single nucleotide variant Spastic paraplegia [RCV002659674] Chr12:57631004 [GRCh38]
Chr12:58024787 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.698A>G (p.Asn233Ser) single nucleotide variant Inborn genetic diseases [RCV002868681] Chr12:57630166 [GRCh38]
Chr12:58023949 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.67C>G (p.Leu23Val) single nucleotide variant Spastic paraplegia [RCV002619337] Chr12:57632066 [GRCh38]
Chr12:58025849 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1061_1063del (p.Trp354_Val355delinsLeu) deletion Spastic paraplegia [RCV002979952] Chr12:57628202..57628204 [GRCh38]
Chr12:58021985..58021987 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.391T>C (p.Ser131Pro) single nucleotide variant Spastic paraplegia [RCV002756723] Chr12:57631079 [GRCh38]
Chr12:58024862 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.702dup (p.Ala235fs) duplication Spastic paraplegia [RCV003035388] Chr12:57630161..57630162 [GRCh38]
Chr12:58023944..58023945 [GRCh37]
Chr12:12q13.3
pathogenic
NM_001478.5(B4GALNT1):c.258G>A (p.Gly86=) single nucleotide variant Spastic paraplegia [RCV002885622] Chr12:57631325 [GRCh38]
Chr12:58025108 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.531+5G>A single nucleotide variant Spastic paraplegia [RCV002913511] Chr12:57630473 [GRCh38]
Chr12:58024256 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1178C>T (p.Ala393Val) single nucleotide variant Spastic paraplegia [RCV002909719] Chr12:57627824 [GRCh38]
Chr12:58021607 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1488C>T (p.Ala496=) single nucleotide variant Spastic paraplegia [RCV002999515] Chr12:57626858 [GRCh38]
Chr12:58020641 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.683G>A (p.Arg228Gln) single nucleotide variant Spastic paraplegia [RCV003077290] Chr12:57630181 [GRCh38]
Chr12:58023964 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.564C>T (p.Asp188=) single nucleotide variant Spastic paraplegia [RCV003058666] Chr12:57630300 [GRCh38]
Chr12:58024083 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.1557G>C (p.Arg519=) single nucleotide variant Spastic paraplegia [RCV002700243] Chr12:57626789 [GRCh38]
Chr12:58020572 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.236A>G (p.Asn79Ser) single nucleotide variant Spastic paraplegia [RCV002741395] Chr12:57631347 [GRCh38]
Chr12:58025130 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1315T>C (p.Phe439Leu) single nucleotide variant Spastic paraplegia [RCV002791496] Chr12:57627687 [GRCh38]
Chr12:58021470 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.883C>G (p.Leu295Val) single nucleotide variant Inborn genetic diseases [RCV002915960] Chr12:57628832 [GRCh38]
Chr12:58022615 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1143+7del deletion Spastic paraplegia [RCV002914642] Chr12:57628115 [GRCh38]
Chr12:58021898 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.870T>C (p.Asp290=) single nucleotide variant Spastic paraplegia [RCV002745765] Chr12:57628845 [GRCh38]
Chr12:58022628 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.1204G>C (p.Val402Leu) single nucleotide variant Spastic paraplegia [RCV002595531] Chr12:57627798 [GRCh38]
Chr12:58021581 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1190G>C (p.Arg397Pro) single nucleotide variant Spastic paraplegia [RCV002595861] Chr12:57627812 [GRCh38]
Chr12:58021595 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1094C>T (p.Thr365Met) single nucleotide variant Inborn genetic diseases [RCV002892394] Chr12:57628171 [GRCh38]
Chr12:58021954 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.261G>T (p.Gly87=) single nucleotide variant Spastic paraplegia [RCV002851195] Chr12:57631322 [GRCh38]
Chr12:58025105 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.1437C>T (p.Val479=) single nucleotide variant Spastic paraplegia [RCV003041247] Chr12:57626909 [GRCh38]
Chr12:58020692 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.1143+8A>C single nucleotide variant Spastic paraplegia [RCV003084230] Chr12:57628114 [GRCh38]
Chr12:58021897 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.123G>T (p.Ala41=) single nucleotide variant Spastic paraplegia [RCV002875738] Chr12:57632010 [GRCh38]
Chr12:58025793 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.218+19G>A single nucleotide variant Spastic paraplegia [RCV002982203] Chr12:57631896 [GRCh38]
Chr12:58025679 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.1069G>C (p.Asp357His) single nucleotide variant Spastic paraplegia [RCV002932011] Chr12:57628196 [GRCh38]
Chr12:58021979 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.80C>A (p.Thr27Asn) single nucleotide variant Spastic paraplegia [RCV003056449] Chr12:57632053 [GRCh38]
Chr12:58025836 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1203C>A (p.Ser401Arg) single nucleotide variant Spastic paraplegia [RCV002626506] Chr12:57627799 [GRCh38]
Chr12:58021582 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.812-12C>T single nucleotide variant Spastic paraplegia [RCV003042836] Chr12:57628915 [GRCh38]
Chr12:58022698 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.357G>T (p.Glu119Asp) single nucleotide variant Spastic paraplegia [RCV002596280] Chr12:57631226 [GRCh38]
Chr12:58025009 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1085C>T (p.Thr362Met) single nucleotide variant Spastic paraplegia [RCV002800691] Chr12:57628180 [GRCh38]
Chr12:58021963 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.256G>A (p.Gly86Arg) single nucleotide variant Spastic paraplegia [RCV003090233] Chr12:57631327 [GRCh38]
Chr12:58025110 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1533C>T (p.Asp511=) single nucleotide variant Spastic paraplegia [RCV002966966] Chr12:57626813 [GRCh38]
Chr12:58020596 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.684A>G (p.Arg228=) single nucleotide variant B4GALNT1-related disorder [RCV003916730]|Spastic paraplegia [RCV003063643] Chr12:57630180 [GRCh38]
Chr12:58023963 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.849C>T (p.Thr283=) single nucleotide variant Spastic paraplegia [RCV002629978] Chr12:57628866 [GRCh38]
Chr12:58022649 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.264C>G (p.Gly88=) single nucleotide variant Spastic paraplegia [RCV002937803] Chr12:57631319 [GRCh38]
Chr12:58025102 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.5G>T (p.Trp2Leu) single nucleotide variant Spastic paraplegia [RCV002599134] Chr12:57632128 [GRCh38]
Chr12:58025911 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1410C>T (p.Ser470=) single nucleotide variant Spastic paraplegia [RCV002792164] Chr12:57626936 [GRCh38]
Chr12:58020719 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.445C>G (p.Leu149Val) single nucleotide variant Inborn genetic diseases [RCV002673426] Chr12:57631025 [GRCh38]
Chr12:58024808 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.914C>T (p.Thr305Met) single nucleotide variant Spastic paraplegia [RCV003089870] Chr12:57628801 [GRCh38]
Chr12:58022584 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.943G>A (p.Asp315Asn) single nucleotide variant Spastic paraplegia [RCV002602010] Chr12:57628772 [GRCh38]
Chr12:58022555 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.218+15C>A single nucleotide variant Spastic paraplegia [RCV003008927] Chr12:57631900 [GRCh38]
Chr12:58025683 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.778C>G (p.Arg260Gly) single nucleotide variant Spastic paraplegia [RCV002650780] Chr12:57629081 [GRCh38]
Chr12:58022864 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1143+11G>C single nucleotide variant Spastic paraplegia [RCV002939112] Chr12:57628111 [GRCh38]
Chr12:58021894 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.218G>C (p.Gly73Ala) single nucleotide variant Spastic paraplegia [RCV003044232] Chr12:57631915 [GRCh38]
Chr12:58025698 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.28G>T (p.Ala10Ser) single nucleotide variant Spastic paraplegia [RCV002647584] Chr12:57632105 [GRCh38]
Chr12:58025888 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1390T>C (p.Phe464Leu) single nucleotide variant Spastic paraplegia [RCV002943543] Chr12:57626956 [GRCh38]
Chr12:58020739 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1011C>T (p.Phe337=) single nucleotide variant Spastic paraplegia [RCV003093698] Chr12:57628254 [GRCh38]
Chr12:58022037 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.909C>A (p.Tyr303Ter) single nucleotide variant Spastic paraplegia [RCV003067995] Chr12:57628806 [GRCh38]
Chr12:58022589 [GRCh37]
Chr12:12q13.3
pathogenic
NM_001478.5(B4GALNT1):c.712+17G>T single nucleotide variant Spastic paraplegia [RCV002721976] Chr12:57630135 [GRCh38]
Chr12:58023918 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.1478C>G (p.Ser493Ter) single nucleotide variant Spastic paraplegia [RCV003032228] Chr12:57626868 [GRCh38]
Chr12:58020651 [GRCh37]
Chr12:12q13.3
pathogenic
NM_001478.5(B4GALNT1):c.812-16G>A single nucleotide variant Spastic paraplegia [RCV002654765] Chr12:57628919 [GRCh38]
Chr12:58022702 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.991C>T (p.Pro331Ser) single nucleotide variant Spastic paraplegia [RCV002814580] Chr12:57628724 [GRCh38]
Chr12:58022507 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1384+3G>A single nucleotide variant Spastic paraplegia [RCV003067298] Chr12:57627615 [GRCh38]
Chr12:58021398 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.323C>T (p.Pro108Leu) single nucleotide variant Spastic paraplegia [RCV003068022] Chr12:57631260 [GRCh38]
Chr12:58025043 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1490G>C (p.Gly497Ala) single nucleotide variant Inborn genetic diseases [RCV002677928] Chr12:57626856 [GRCh38]
Chr12:58020639 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.219-8C>G single nucleotide variant Spastic paraplegia [RCV003069751] Chr12:57631372 [GRCh38]
Chr12:58025155 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.19G>A (p.Ala7Thr) single nucleotide variant Inborn genetic diseases [RCV003167583]|Spastic paraplegia [RCV002653748] Chr12:57632114 [GRCh38]
Chr12:58025897 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.368A>T (p.Gln123Leu) single nucleotide variant Inborn genetic diseases [RCV002723266] Chr12:57631215 [GRCh38]
Chr12:58024998 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.812-14G>A single nucleotide variant Spastic paraplegia [RCV002610571] Chr12:57628917 [GRCh38]
Chr12:58022700 [GRCh37]
Chr12:12q13.3
likely benign
GRCh37/hg19 12q13.3-14.1(chr12:57064059-59314016)x1 copy number loss not provided [RCV003222783] Chr12:57064059..59314016 [GRCh37]
Chr12:12q13.3-14.1
likely pathogenic
NM_001478.5(B4GALNT1):c.298A>G (p.Ile100Val) single nucleotide variant Inborn genetic diseases [RCV003211729] Chr12:57631285 [GRCh38]
Chr12:58025068 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.355G>C (p.Glu119Gln) single nucleotide variant Inborn genetic diseases [RCV003192125] Chr12:57631228 [GRCh38]
Chr12:58025011 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1162G>C (p.Glu388Gln) single nucleotide variant Inborn genetic diseases [RCV003198786] Chr12:57627840 [GRCh38]
Chr12:58021623 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.532-2_532-1delinsTC indel Hereditary spastic paraplegia 26 [RCV003333451] Chr12:57630333..57630334 [GRCh38]
Chr12:58024116..58024117 [GRCh37]
Chr12:12q13.3
likely pathogenic
NM_001478.5(B4GALNT1):c.953A>G (p.Glu318Gly) single nucleotide variant Inborn genetic diseases [RCV003350150] Chr12:57628762 [GRCh38]
Chr12:58022545 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.392C>A (p.Ser131Tyr) single nucleotide variant Inborn genetic diseases [RCV003377113] Chr12:57631078 [GRCh38]
Chr12:58024861 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1598A>C (p.Gln533Pro) single nucleotide variant Inborn genetic diseases [RCV003349515] Chr12:57626748 [GRCh38]
Chr12:58020531 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.664C>T (p.Leu222=) single nucleotide variant Spastic paraplegia [RCV003588920]|not provided [RCV003456816] Chr12:57630200 [GRCh38]
Chr12:58023983 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.713-1G>A single nucleotide variant not provided [RCV003481799] Chr12:57629147 [GRCh38]
Chr12:58022930 [GRCh37]
Chr12:12q13.3
likely pathogenic
NM_001478.5(B4GALNT1):c.1234T>C (p.Cys412Arg) single nucleotide variant not provided [RCV003482075] Chr12:57627768 [GRCh38]
Chr12:58021551 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1077C>A (p.Phe359Leu) single nucleotide variant not provided [RCV003443900] Chr12:57628188 [GRCh38]
Chr12:58021971 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.*1859A>C single nucleotide variant not provided [RCV003391933] Chr12:57624885 [GRCh38]
Chr12:58018668 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.712+23C>T single nucleotide variant not provided [RCV003391934] Chr12:57630129 [GRCh38]
Chr12:58023912 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.491-16dup duplication Spastic paraplegia [RCV003751232] Chr12:57630533..57630534 [GRCh38]
Chr12:58024316..58024317 [GRCh37]
Chr12:12q13.3
benign
NM_001478.5(B4GALNT1):c.1272C>A (p.Val424=) single nucleotide variant Spastic paraplegia [RCV003752403] Chr12:57627730 [GRCh38]
Chr12:58021513 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.384-12C>T single nucleotide variant Spastic paraplegia [RCV003751471] Chr12:57631098 [GRCh38]
Chr12:58024881 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.1035T>C (p.Ser345=) single nucleotide variant Spastic paraplegia [RCV003751613] Chr12:57628230 [GRCh38]
Chr12:58022013 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.712+13G>A single nucleotide variant Spastic paraplegia [RCV003751245] Chr12:57630139 [GRCh38]
Chr12:58023922 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.589A>G (p.Thr197Ala) single nucleotide variant Spastic paraplegia [RCV003751968] Chr12:57630275 [GRCh38]
Chr12:58024058 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1101G>T (p.Leu367=) single nucleotide variant Spastic paraplegia [RCV003752595] Chr12:57628164 [GRCh38]
Chr12:58021947 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.261G>A (p.Gly87=) single nucleotide variant Spastic paraplegia [RCV003751547] Chr12:57631322 [GRCh38]
Chr12:58025105 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.712+1G>A single nucleotide variant Spastic paraplegia [RCV003752471] Chr12:57630151 [GRCh38]
Chr12:58023934 [GRCh37]
Chr12:12q13.3
likely pathogenic
NM_001478.5(B4GALNT1):c.57G>T (p.Ser19=) single nucleotide variant Spastic paraplegia [RCV003750470] Chr12:57632076 [GRCh38]
Chr12:58025859 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.1431del (p.Asp478fs) deletion Spastic paraplegia [RCV003751977] Chr12:57626915 [GRCh38]
Chr12:58020698 [GRCh37]
Chr12:12q13.3
pathogenic
NM_001478.5(B4GALNT1):c.811+38_903del deletion Spastic paraplegia [RCV003591003] Chr12:57628812..57629010 [GRCh38]
Chr12:58022595..58022793 [GRCh37]
Chr12:12q13.3
likely pathogenic
NM_001478.5(B4GALNT1):c.354A>G (p.Arg118=) single nucleotide variant Spastic paraplegia [RCV003588154] Chr12:57631229 [GRCh38]
Chr12:58025012 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.957C>T (p.Arg319=) single nucleotide variant Spastic paraplegia [RCV003588089] Chr12:57628758 [GRCh38]
Chr12:58022541 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.1509G>A (p.Arg503=) single nucleotide variant Spastic paraplegia [RCV003590653] Chr12:57626837 [GRCh38]
Chr12:58020620 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.811+17C>T single nucleotide variant Spastic paraplegia [RCV003590049] Chr12:57629031 [GRCh38]
Chr12:58022814 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.1344G>A (p.Glu448=) single nucleotide variant Spastic paraplegia [RCV003588284] Chr12:57627658 [GRCh38]
Chr12:58021441 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.417C>G (p.Ala139=) single nucleotide variant Spastic paraplegia [RCV003590285] Chr12:57631053 [GRCh38]
Chr12:58024836 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.903C>T (p.Arg301=) single nucleotide variant Spastic paraplegia [RCV003590871] Chr12:57628812 [GRCh38]
Chr12:58022595 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.832C>T (p.Leu278=) single nucleotide variant Spastic paraplegia [RCV003589348] Chr12:57628883 [GRCh38]
Chr12:58022666 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.644A>G (p.Gln215Arg) single nucleotide variant Spastic paraplegia [RCV003588993] Chr12:57630220 [GRCh38]
Chr12:58024003 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1417dup (p.Val473fs) duplication Spastic paraplegia [RCV003588996] Chr12:57626928..57626929 [GRCh38]
Chr12:58020711..58020712 [GRCh37]
Chr12:12q13.3
pathogenic
NM_001478.5(B4GALNT1):c.1325G>C (p.Arg442Pro) single nucleotide variant Inborn genetic diseases [RCV004423546] Chr12:57627677 [GRCh38]
Chr12:58021460 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.1322C>A (p.Ala441Glu) single nucleotide variant Hereditary spastic paraplegia 26 [RCV003988715] Chr12:57627680 [GRCh38]
Chr12:58021463 [GRCh37]
Chr12:12q13.3
likely pathogenic
NM_001478.5(B4GALNT1):c.1057C>T (p.Leu353=) single nucleotide variant B4GALNT1-related disorder [RCV003934656] Chr12:57628208 [GRCh38]
Chr12:58021991 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.1152C>T (p.Gly384=) single nucleotide variant not provided [RCV003884309] Chr12:57627850 [GRCh38]
Chr12:58021633 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.1259_1279del (p.His420_Phe426del) deletion Autism [RCV004698680] Chr12:57627723..57627743 [GRCh38]
Chr12:58021506..58021526 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.922G>A (p.Val308Met) single nucleotide variant Inborn genetic diseases [RCV004601662] Chr12:57628793 [GRCh38]
Chr12:58022576 [GRCh37]
Chr12:12q13.3
uncertain significance
NC_000012.11:g.(?_56711393)_(58190366_?)dup duplication Cataract 15 multiple types [RCV004578366]|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV004578368]|Spastic paraplegia [RCV004578367] Chr12:56711393..58190366 [GRCh37]
Chr12:12q13.3-14.1
uncertain significance
NM_001478.5(B4GALNT1):c.1102G>A (p.Glu368Lys) single nucleotide variant not provided [RCV004793909] Chr12:57628163 [GRCh38]
Chr12:58021946 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.956G>A (p.Arg319His) single nucleotide variant not provided [RCV004793910] Chr12:57628759 [GRCh38]
Chr12:58022542 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.*1008G>A single nucleotide variant not provided [RCV004722472] Chr12:57625736 [GRCh38]
Chr12:58019519 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.736G>A (p.Glu246Lys) single nucleotide variant not provided [RCV004772313] Chr12:57629123 [GRCh38]
Chr12:58022906 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.532-1G>C single nucleotide variant not provided [RCV004775986] Chr12:57630333 [GRCh38]
Chr12:58024116 [GRCh37]
Chr12:12q13.3
pathogenic
NM_001478.5(B4GALNT1):c.712+248G>C single nucleotide variant B4GALNT1-related disorder [RCV004758438] Chr12:57629904 [GRCh38]
Chr12:58023687 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.872G>A (p.Arg291Gln) single nucleotide variant Inborn genetic diseases [RCV003279898] Chr12:57628843 [GRCh38]
Chr12:58022626 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.754C>T (p.Arg252Cys) single nucleotide variant Spastic paraplegia [RCV000536892] Chr12:57629105 [GRCh38]
Chr12:58022888 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_001478.5(B4GALNT1):c.399T>G (p.Ala133=) single nucleotide variant Spastic paraplegia [RCV001485173] Chr12:57631071 [GRCh38]
Chr12:58024854 [GRCh37]
Chr12:12q13.3
likely benign
NM_001478.5(B4GALNT1):c.1291G>A (p.Val431Ile) single nucleotide variant not provided [RCV001754766] Chr12:57627711 [GRCh38]
Chr12:58021494 [GRCh37]
Chr12:12q13.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5037
Count of miRNA genes:1172
Interacting mature miRNAs:1479
Transcripts:ENST00000341156, ENST00000418555, ENST00000449184, ENST00000547741, ENST00000548487, ENST00000548888, ENST00000549391, ENST00000550764, ENST00000550943, ENST00000551220, ENST00000551925, ENST00000552219, ENST00000552350, ENST00000552468, ENST00000552798, ENST00000553142
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597432587GWAS1528661_Hprotein measurement QTL GWAS1528661 (human)1e-34protein measurement125763019857630199Human
597042207GWAS1138281_Hcortical thickness QTL GWAS1138281 (human)0.000001cortical thickness125762730857627309Human
406978348GWAS627324_Hblood protein measurement QTL GWAS627324 (human)0.000003blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)125763300357633004Human

Markers in Region
D12S59  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371233,993,514 - 33,993,690UniSTSGRCh37
Build 361233,884,781 - 33,884,957RGDNCBI36
Celera1213,800,834 - 13,801,010RGD
Cytogenetic Map12p11.1-q14UniSTS
HuRef1233,734,314 - 33,734,488UniSTS
Marshfield Genetic Map1255.99UniSTS
Marshfield Genetic Map1255.99RGD
D12S1676  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371268,213,031 - 68,213,156UniSTSGRCh37
Build 361266,499,298 - 66,499,423RGDNCBI36
Celera1267,877,053 - 67,877,178RGD
Cytogenetic Map12p11.1-q14UniSTS
HuRef1265,263,957 - 65,264,078UniSTS
Marshfield Genetic Map1278.74UniSTS
Marshfield Genetic Map1278.74RGD
Genethon Genetic Map1279.4UniSTS
deCODE Assembly Map1282.74UniSTS
D12S1969  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371258,019,735 - 58,019,856UniSTSGRCh37
Build 361256,306,002 - 56,306,123RGDNCBI36
Celera1257,675,550 - 57,675,671RGD
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map12q13UniSTS
HuRef1255,057,420 - 55,057,541UniSTS
Whitehead-YAC Contig Map12 UniSTS
WI-15888  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371258,023,137 - 58,023,272UniSTSGRCh37
Build 361256,309,404 - 56,309,539RGDNCBI36
Celera1257,678,952 - 57,679,087RGD
Cytogenetic Map12q13.3UniSTS
HuRef1255,060,822 - 55,060,957UniSTS
GeneMap99-GB4 RH Map12250.76UniSTS
Whitehead-RH Map12363.9UniSTS
NCBI RH Map12459.1UniSTS
RH1607  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371258,019,932 - 58,020,119UniSTSGRCh37
Build 361256,306,199 - 56,306,386RGDNCBI36
Celera1257,675,747 - 57,675,934RGD
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map12q13UniSTS
HuRef1255,057,617 - 55,057,804UniSTS
GeneMap99-GB4 RH Map12254.74UniSTS
NCBI RH Map12458.1UniSTS
D12S2059  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371258,020,260 - 58,020,436UniSTSGRCh37
Build 361256,306,527 - 56,306,703RGDNCBI36
Celera1257,676,075 - 57,676,251RGD
Cytogenetic Map12q13.3UniSTS
HuRef1255,057,945 - 55,058,121UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2391 2788 2245 4967 1704 2323 5 606 1658 446 2265 6950 6175 50 3733 1 845 1740 1607 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001276468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001276469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005268773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011538147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC025165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA483728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ860786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ860787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ860788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ860789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY966298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY966299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L76079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC273521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M83651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000341156   ⟹   ENSP00000341562
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1257,623,409 - 57,633,201 (-)Ensembl
Ensembl Acc Id: ENST00000418555   ⟹   ENSP00000401601
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1257,626,428 - 57,632,647 (-)Ensembl
Ensembl Acc Id: ENST00000449184   ⟹   ENSP00000473533
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1257,628,452 - 57,633,239 (-)Ensembl
Ensembl Acc Id: ENST00000547741   ⟹   ENSP00000448577
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1257,626,941 - 57,628,729 (-)Ensembl
Ensembl Acc Id: ENST00000548487   ⟹   ENSP00000449534
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1257,630,997 - 57,632,943 (-)Ensembl
Ensembl Acc Id: ENST00000548888   ⟹   ENSP00000447945
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1257,630,152 - 57,632,668 (-)Ensembl
Ensembl Acc Id: ENST00000549391   ⟹   ENSP00000447750
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1257,628,167 - 57,631,087 (-)Ensembl
Ensembl Acc Id: ENST00000550764   ⟹   ENSP00000450303
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1257,629,329 - 57,633,202 (-)Ensembl
Ensembl Acc Id: ENST00000550943
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1257,631,157 - 57,632,679 (-)Ensembl
Ensembl Acc Id: ENST00000551220   ⟹   ENSP00000446566
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1257,631,222 - 57,633,205 (-)Ensembl
Ensembl Acc Id: ENST00000551925
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1257,631,128 - 57,632,680 (-)Ensembl
Ensembl Acc Id: ENST00000552219   ⟹   ENSP00000448340
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1257,630,507 - 57,632,649 (-)Ensembl
Ensembl Acc Id: ENST00000552350   ⟹   ENSP00000448500
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1257,629,344 - 57,632,668 (-)Ensembl
Ensembl Acc Id: ENST00000552468
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1257,626,172 - 57,629,365 (-)Ensembl
Ensembl Acc Id: ENST00000552798   ⟹   ENSP00000447076
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1257,626,476 - 57,632,655 (-)Ensembl
Ensembl Acc Id: ENST00000553142
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1257,623,410 - 57,633,151 (-)Ensembl
RefSeq Acc Id: NM_001276468   ⟹   NP_001263397
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,623,409 - 57,632,679 (-)NCBI
GRCh371258,019,678 - 58,027,022 (-)NCBI
HuRef1255,057,363 - 55,064,728 (-)NCBI
CHM1_11257,987,494 - 57,994,278 (-)NCBI
T2T-CHM13v2.01257,591,628 - 57,600,898 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001276469   ⟹   NP_001263398
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,629,329 - 57,633,201 (-)NCBI
GRCh371258,019,678 - 58,027,022 (-)NCBI
HuRef1255,057,363 - 55,064,728 (-)NCBI
CHM1_11257,990,926 - 57,994,836 (-)NCBI
T2T-CHM13v2.01257,597,548 - 57,601,420 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001413967   ⟹   NP_001400896
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,623,409 - 57,633,201 (-)NCBI
T2T-CHM13v2.01257,591,628 - 57,601,420 (-)NCBI
RefSeq Acc Id: NM_001413968   ⟹   NP_001400897
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,623,409 - 57,633,201 (-)NCBI
T2T-CHM13v2.01257,591,628 - 57,601,420 (-)NCBI
RefSeq Acc Id: NM_001413969   ⟹   NP_001400898
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,623,409 - 57,632,679 (-)NCBI
T2T-CHM13v2.01257,591,628 - 57,600,898 (-)NCBI
RefSeq Acc Id: NM_001413970   ⟹   NP_001400899
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,623,409 - 57,633,201 (-)NCBI
T2T-CHM13v2.01257,591,628 - 57,601,420 (-)NCBI
RefSeq Acc Id: NM_001413971   ⟹   NP_001400900
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,623,409 - 57,633,201 (-)NCBI
T2T-CHM13v2.01257,591,628 - 57,601,420 (-)NCBI
RefSeq Acc Id: NM_001413972   ⟹   NP_001400901
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,623,409 - 57,632,679 (-)NCBI
T2T-CHM13v2.01257,591,628 - 57,600,898 (-)NCBI
RefSeq Acc Id: NM_001413973   ⟹   NP_001400902
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,623,409 - 57,633,201 (-)NCBI
T2T-CHM13v2.01257,591,628 - 57,601,420 (-)NCBI
RefSeq Acc Id: NM_001413974   ⟹   NP_001400903
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,623,409 - 57,632,679 (-)NCBI
T2T-CHM13v2.01257,591,628 - 57,600,898 (-)NCBI
RefSeq Acc Id: NM_001413977   ⟹   NP_001400906
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,623,409 - 57,633,201 (-)NCBI
T2T-CHM13v2.01257,591,628 - 57,601,420 (-)NCBI
RefSeq Acc Id: NM_001413978   ⟹   NP_001400907
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,623,409 - 57,633,201 (-)NCBI
T2T-CHM13v2.01257,591,628 - 57,601,420 (-)NCBI
RefSeq Acc Id: NM_001413979   ⟹   NP_001400908
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,628,452 - 57,633,201 (-)NCBI
T2T-CHM13v2.01257,596,671 - 57,601,420 (-)NCBI
RefSeq Acc Id: NM_001413980   ⟹   NP_001400909
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,628,452 - 57,632,679 (-)NCBI
T2T-CHM13v2.01257,596,671 - 57,600,898 (-)NCBI
RefSeq Acc Id: NM_001413981   ⟹   NP_001400910
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,623,409 - 57,633,201 (-)NCBI
T2T-CHM13v2.01257,591,628 - 57,601,420 (-)NCBI
RefSeq Acc Id: NM_001413982   ⟹   NP_001400911
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,623,409 - 57,633,201 (-)NCBI
T2T-CHM13v2.01257,591,628 - 57,601,420 (-)NCBI
RefSeq Acc Id: NM_001413983   ⟹   NP_001400912
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,623,409 - 57,633,201 (-)NCBI
T2T-CHM13v2.01257,591,628 - 57,601,420 (-)NCBI
RefSeq Acc Id: NM_001413984   ⟹   NP_001400913
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,623,409 - 57,633,201 (-)NCBI
T2T-CHM13v2.01257,591,628 - 57,601,420 (-)NCBI
RefSeq Acc Id: NM_001478   ⟹   NP_001469
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,623,409 - 57,633,201 (-)NCBI
GRCh371258,019,678 - 58,027,022 (-)NCBI
Build 361256,305,818 - 56,313,252 (-)NCBI Archive
HuRef1255,057,363 - 55,064,728 (-)NCBI
CHM1_11257,987,494 - 57,994,836 (-)NCBI
T2T-CHM13v2.01257,591,628 - 57,601,420 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005268773   ⟹   XP_005268830
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,623,409 - 57,632,496 (-)NCBI
GRCh371258,019,678 - 58,027,022 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011538147   ⟹   XP_011536449
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,623,409 - 57,632,499 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024448928   ⟹   XP_024304696
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,623,409 - 57,632,498 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047428680   ⟹   XP_047284636
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,623,409 - 57,632,498 (-)NCBI
RefSeq Acc Id: XM_047428681   ⟹   XP_047284637
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,623,409 - 57,632,495 (-)NCBI
RefSeq Acc Id: XM_047428682   ⟹   XP_047284638
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,627,824 - 57,632,503 (-)NCBI
RefSeq Acc Id: XM_054371698   ⟹   XP_054227673
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01257,591,628 - 57,600,717 (-)NCBI
RefSeq Acc Id: XM_054371699   ⟹   XP_054227674
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01257,591,628 - 57,600,718 (-)NCBI
RefSeq Acc Id: XM_054371700   ⟹   XP_054227675
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01257,591,628 - 57,600,715 (-)NCBI
RefSeq Acc Id: XM_054371701   ⟹   XP_054227676
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01257,591,628 - 57,600,717 (-)NCBI
RefSeq Acc Id: XM_054371702   ⟹   XP_054227677
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01257,591,628 - 57,600,714 (-)NCBI
RefSeq Acc Id: XM_054371703   ⟹   XP_054227678
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01257,596,043 - 57,600,722 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001263397 (Get FASTA)   NCBI Sequence Viewer  
  NP_001263398 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400896 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400897 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400898 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400899 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400900 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400901 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400902 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400903 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400906 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400907 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400908 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400909 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400910 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400911 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400912 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400913 (Get FASTA)   NCBI Sequence Viewer  
  NP_001469 (Get FASTA)   NCBI Sequence Viewer  
  XP_005268830 (Get FASTA)   NCBI Sequence Viewer  
  XP_011536449 (Get FASTA)   NCBI Sequence Viewer  
  XP_024304696 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284636 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284637 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284638 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227673 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227674 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227675 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227676 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227677 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227678 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA35516 (Get FASTA)   NCBI Sequence Viewer  
  AAH29828 (Get FASTA)   NCBI Sequence Viewer  
  AEJ36341 (Get FASTA)   NCBI Sequence Viewer  
  AEJ36342 (Get FASTA)   NCBI Sequence Viewer  
  AEJ36343 (Get FASTA)   NCBI Sequence Viewer  
  AEJ36344 (Get FASTA)   NCBI Sequence Viewer  
  BAD92697 (Get FASTA)   NCBI Sequence Viewer  
  BAF82379 (Get FASTA)   NCBI Sequence Viewer  
  BAG56937 (Get FASTA)   NCBI Sequence Viewer  
  BAG61707 (Get FASTA)   NCBI Sequence Viewer  
  BAH13729 (Get FASTA)   NCBI Sequence Viewer  
  BAX90094 (Get FASTA)   NCBI Sequence Viewer  
  EAW97042 (Get FASTA)   NCBI Sequence Viewer  
  EAW97043 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000341562
  ENSP00000341562.4
  ENSP00000401601
  ENSP00000401601.2
  ENSP00000446566.1
  ENSP00000447076.1
  ENSP00000447750.1
  ENSP00000447945.1
  ENSP00000448340.1
  ENSP00000448500.1
  ENSP00000448577.1
  ENSP00000449534.1
  ENSP00000450303
  ENSP00000450303.1
  ENSP00000473533
  ENSP00000473533.1
GenBank Protein Q00973 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001469   ⟸   NM_001478
- Peptide Label: isoform 1
- UniProtKB: Q00973 (UniProtKB/Swiss-Prot),   B4DE26 (UniProtKB/Swiss-Prot),   Q8N636 (UniProtKB/Swiss-Prot),   A0A1Z4EAV6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001263397   ⟸   NM_001276468
- Peptide Label: isoform 2
- UniProtKB: A0A1Z4EAV6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001263398   ⟸   NM_001276469
- Peptide Label: isoform 3
- UniProtKB: A8K0X5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005268830   ⟸   XM_005268773
- Peptide Label: isoform X3
- UniProtKB: A0A1Z4EAV6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011536449   ⟸   XM_011538147
- Peptide Label: isoform X2
- UniProtKB: A0A1Z4EAV6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024304696   ⟸   XM_024448928
- Peptide Label: isoform X4
- UniProtKB: A0A1Z4EAV6 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000448577   ⟸   ENST00000547741
Ensembl Acc Id: ENSP00000447945   ⟸   ENST00000548888
Ensembl Acc Id: ENSP00000449534   ⟸   ENST00000548487
Ensembl Acc Id: ENSP00000447750   ⟸   ENST00000549391
Ensembl Acc Id: ENSP00000401601   ⟸   ENST00000418555
Ensembl Acc Id: ENSP00000450303   ⟸   ENST00000550764
Ensembl Acc Id: ENSP00000446566   ⟸   ENST00000551220
Ensembl Acc Id: ENSP00000341562   ⟸   ENST00000341156
Ensembl Acc Id: ENSP00000448500   ⟸   ENST00000552350
Ensembl Acc Id: ENSP00000448340   ⟸   ENST00000552219
Ensembl Acc Id: ENSP00000473533   ⟸   ENST00000449184
Ensembl Acc Id: ENSP00000447076   ⟸   ENST00000552798
RefSeq Acc Id: XP_047284636   ⟸   XM_047428680
- Peptide Label: isoform X1
- UniProtKB: A0A1Z4EAV6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047284637   ⟸   XM_047428681
- Peptide Label: isoform X5
- UniProtKB: A0A1Z4EAV6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047284638   ⟸   XM_047428682
- Peptide Label: isoform X6
RefSeq Acc Id: NP_001400907   ⟸   NM_001413978
- Peptide Label: isoform 2
- UniProtKB: A0A1Z4EAV6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001400913   ⟸   NM_001413984
- Peptide Label: isoform 11
RefSeq Acc Id: NP_001400911   ⟸   NM_001413982
- Peptide Label: isoform 10
RefSeq Acc Id: NP_001400910   ⟸   NM_001413981
- Peptide Label: isoform 9
RefSeq Acc Id: NP_001400906   ⟸   NM_001413977
- Peptide Label: isoform 7
- UniProtKB: A0A1Z4EAV6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001400899   ⟸   NM_001413970
- Peptide Label: isoform 6
- UniProtKB: A0A1Z4EAV6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001400897   ⟸   NM_001413968
- Peptide Label: isoform 5
- UniProtKB: A0A1Z4EAV6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001400896   ⟸   NM_001413967
- Peptide Label: isoform 4
- UniProtKB: A0A1Z4EAV6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001400912   ⟸   NM_001413983
- Peptide Label: isoform 11
RefSeq Acc Id: NP_001400902   ⟸   NM_001413973
- Peptide Label: isoform 1
- UniProtKB: B4DE26 (UniProtKB/Swiss-Prot),   Q00973 (UniProtKB/Swiss-Prot),   Q8N636 (UniProtKB/Swiss-Prot),   A0A1Z4EAV6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001400900   ⟸   NM_001413971
- Peptide Label: isoform 6
- UniProtKB: A0A1Z4EAV6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001400903   ⟸   NM_001413974
- Peptide Label: isoform 1
- UniProtKB: Q00973 (UniProtKB/Swiss-Prot),   B4DE26 (UniProtKB/Swiss-Prot),   Q8N636 (UniProtKB/Swiss-Prot),   A0A1Z4EAV6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001400901   ⟸   NM_001413972
- Peptide Label: isoform 6
- UniProtKB: A0A1Z4EAV6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001400898   ⟸   NM_001413969
- Peptide Label: isoform 5
- UniProtKB: A0A1Z4EAV6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001400908   ⟸   NM_001413979
- Peptide Label: isoform 8
- UniProtKB: B4DSP5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001400909   ⟸   NM_001413980
- Peptide Label: isoform 8
- UniProtKB: B4DSP5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054227674   ⟸   XM_054371699
- Peptide Label: isoform X2
- UniProtKB: A0A1Z4EAV6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054227673   ⟸   XM_054371698
- Peptide Label: isoform X1
- UniProtKB: A0A1Z4EAV6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054227676   ⟸   XM_054371701
- Peptide Label: isoform X4
- UniProtKB: A0A1Z4EAV6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054227675   ⟸   XM_054371700
- Peptide Label: isoform X3
- UniProtKB: A0A1Z4EAV6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054227677   ⟸   XM_054371702
- Peptide Label: isoform X5
- UniProtKB: A0A1Z4EAV6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054227678   ⟸   XM_054371703
- Peptide Label: isoform X6
Protein Domains
Glycosyltransferase 2-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q00973-F1-model_v2 AlphaFold Q00973 1-533 view protein structure

Promoters
RGD ID:6789694
Promoter ID:HG_KWN:15996
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:NM_001478,   UC001SPH.1,   UC001SPI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361256,312,606 - 56,313,307 (-)MPROMDB
RGD ID:7224587
Promoter ID:EPDNEW_H18038
Type:initiation region
Name:B4GALNT1_2
Description:beta-1,4-N-acetyl-galactosaminyltransferase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18039  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,632,649 - 57,632,709EPDNEW
RGD ID:7224585
Promoter ID:EPDNEW_H18039
Type:initiation region
Name:B4GALNT1_1
Description:beta-1,4-N-acetyl-galactosaminyltransferase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18038  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,633,182 - 57,633,242EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4117 AgrOrtholog
COSMIC B4GALNT1 COSMIC
Ensembl Genes ENSG00000135454 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000341156 ENTREZGENE
  ENST00000341156.9 UniProtKB/Swiss-Prot
  ENST00000418555 ENTREZGENE
  ENST00000418555.6 UniProtKB/Swiss-Prot
  ENST00000449184 ENTREZGENE
  ENST00000449184.7 UniProtKB/TrEMBL
  ENST00000547741.1 UniProtKB/TrEMBL
  ENST00000548487.5 UniProtKB/TrEMBL
  ENST00000548888.5 UniProtKB/TrEMBL
  ENST00000549391.5 UniProtKB/TrEMBL
  ENST00000550764 ENTREZGENE
  ENST00000550764.5 UniProtKB/Swiss-Prot
  ENST00000551220.1 UniProtKB/TrEMBL
  ENST00000552219.5 UniProtKB/TrEMBL
  ENST00000552350.5 UniProtKB/Swiss-Prot
  ENST00000552798.5 UniProtKB/TrEMBL
  ENST00000553142 ENTREZGENE
Gene3D-CATH Spore Coat Polysaccharide Biosynthesis Protein SpsA, Chain A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000135454 GTEx
HGNC ID HGNC:4117 ENTREZGENE
Human Proteome Map B4GALNT1 Human Proteome Map
InterPro Glyco_trans_2-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GM2_synthase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucleotide-diphossugar_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2583 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2583 ENTREZGENE
OMIM 601873 OMIM
PANTHER BETA-1,4 N-ACETYLGALACTOSAMINYLTRANSFERASE 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GLYCO_TRANS_2-LIKE DOMAIN-CONTAINING PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Glycos_transf_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28532 PharmGKB
PIRSF GM2_GD2_synthase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PROKAR_LIPOPROTEIN UniProtKB/TrEMBL
Superfamily-SCOP SSF53448 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1Z4EAV6 ENTREZGENE, UniProtKB/TrEMBL
  A8K0X5 ENTREZGENE, UniProtKB/TrEMBL
  B4DE26 ENTREZGENE
  B4DSP5 ENTREZGENE, UniProtKB/TrEMBL
  B4GN1_HUMAN UniProtKB/Swiss-Prot
  F8TDK4_HUMAN UniProtKB/TrEMBL
  F8TDK5_HUMAN UniProtKB/TrEMBL
  F8TDK6_HUMAN UniProtKB/TrEMBL
  F8TDK7_HUMAN UniProtKB/TrEMBL
  F8VR44_HUMAN UniProtKB/TrEMBL
  F8VSE0_HUMAN UniProtKB/TrEMBL
  F8VU35_HUMAN UniProtKB/TrEMBL
  F8VW33_HUMAN UniProtKB/TrEMBL
  F8W1A7_HUMAN UniProtKB/TrEMBL
  H0YHT1_HUMAN UniProtKB/TrEMBL
  H0YI57_HUMAN UniProtKB/TrEMBL
  Q00973 ENTREZGENE
  Q8N636 ENTREZGENE
UniProt Secondary B4DE26 UniProtKB/Swiss-Prot
  Q8N636 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-29 B4GALNT1  beta-1,4-N-acetyl-galactosaminyltransferase 1  B4GALNT1  beta-1,4-N-acetyl-galactosaminyl transferase 1  Symbol and/or name change 5135510 APPROVED