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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | B4GALNT1 | Human | hereditary spastic paraplegia 26 | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | B4GALNT1 | Human | hereditary spastic paraplegia 26 | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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# | 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 |
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 |
B4GALNT1 (Homo sapiens - human) |
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B4galnt1 (Mus musculus - house mouse) |
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B4galnt1 (Rattus norvegicus - Norway rat) |
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B4galnt1 (Chinchilla lanigera - long-tailed chinchilla) |
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B4GALNT1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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B4GALNT1 (Canis lupus familiaris - dog) |
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B4galnt1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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B4GALNT1 (Sus scrofa - pig) |
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B4GALNT1 (Chlorocebus sabaeus - green monkey) |
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B4galnt1 (Heterocephalus glaber - naked mole-rat) |
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Variants in B4GALNT1
289 total 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 |
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. |
The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
D12S59 |
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D12S1676 |
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D12S1969 |
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WI-15888 |
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RH1607 |
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D12S2059 |
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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 |
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: |
|
Ensembl Acc Id: | ENST00000418555 ⟹ ENSP00000401601 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000449184 ⟹ ENSP00000473533 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000547741 ⟹ ENSP00000448577 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000548487 ⟹ ENSP00000449534 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000548888 ⟹ ENSP00000447945 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000549391 ⟹ ENSP00000447750 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000550764 ⟹ ENSP00000450303 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000550943 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000551220 ⟹ ENSP00000446566 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000551925 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000552219 ⟹ ENSP00000448340 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000552350 ⟹ ENSP00000448500 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000552468 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000552798 ⟹ ENSP00000447076 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000553142 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001276468 ⟹ NP_001263397 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001276469 ⟹ NP_001263398 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001413967 ⟹ NP_001400896 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001413968 ⟹ NP_001400897 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001413969 ⟹ NP_001400898 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001413970 ⟹ NP_001400899 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001413971 ⟹ NP_001400900 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001413972 ⟹ NP_001400901 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001413973 ⟹ NP_001400902 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001413974 ⟹ NP_001400903 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001413977 ⟹ NP_001400906 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001413978 ⟹ NP_001400907 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001413979 ⟹ NP_001400908 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001413980 ⟹ NP_001400909 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001413981 ⟹ NP_001400910 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001413982 ⟹ NP_001400911 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001413983 ⟹ NP_001400912 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001413984 ⟹ NP_001400913 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001478 ⟹ NP_001469 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_005268773 ⟹ XP_005268830 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | XM_011538147 ⟹ XP_011536449 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_024448928 ⟹ XP_024304696 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_047428680 ⟹ XP_047284636 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047428681 ⟹ XP_047284637 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047428682 ⟹ XP_047284638 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054371698 ⟹ XP_054227673 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054371699 ⟹ XP_054227674 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054371700 ⟹ XP_054227675 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054371701 ⟹ XP_054227676 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054371702 ⟹ XP_054227677 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054371703 ⟹ XP_054227678 | ||||||||
Type: | CODING | ||||||||
Position: |
|
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 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q00973-F1-model_v2 | AlphaFold | Q00973 | 1-533 | view protein structure |
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: |
|
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: |
|
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: |
|
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 |
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 |