SLC46A1 (solute carrier family 46 member 1) - Rat Genome Database

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Gene: SLC46A1 (solute carrier family 46 member 1) Homo sapiens
Analyze
Symbol: SLC46A1
Name: solute carrier family 46 member 1
RGD ID: 1606750
HGNC Page HGNC:30521
Description: Enables folic acid:proton symporter activity. Involved in folate import across plasma membrane and proton transmembrane transport. Located in apical plasma membrane and endosome. Is active in basolateral plasma membrane. Implicated in hereditary folate malabsorption.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ39875; G21; HCP1; heme carrier protein 1; hPCFT; HsPCFT; MGC9564; PCFT; PCFT/HCP1; proton-coupled folate transporter; solute carrier family 46 (folate transporter), member 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381728,394,642 - 28,406,592 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1728,394,642 - 28,407,197 (-)EnsemblGRCh38hg38GRCh38
GRCh371726,721,661 - 26,733,230 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361723,745,788 - 23,757,355 (-)NCBINCBI36Build 36hg18NCBI36
Celera1723,583,422 - 23,594,992 (-)NCBICelera
Cytogenetic Map17q11.2NCBI
HuRef1722,930,003 - 22,941,574 (-)NCBIHuRef
CHM1_11726,784,574 - 26,796,145 (-)NCBICHM1_1
T2T-CHM13v2.01729,336,494 - 29,348,065 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3-Iodothyronamine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-diisothiocyano-trans-stilbene-2,2'-disulfonic acid  (EXP)
4,4'-sulfonyldiphenol  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-formyltetrahydrofolic acid  (EXP)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
5-methyltetrahydrofolic acid  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
AM-251  (EXP)
amiodarone  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
ATP  (EXP)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP)
Benzo[k]fluoranthene  (ISO)
bisphenol A  (ISO)
bromosulfophthalein  (EXP,ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
calciol  (EXP,ISO)
calcitriol  (EXP)
carbon nanotube  (ISO)
chromium(6+)  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
dextran sulfate  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
ethyl methanesulfonate  (EXP)
fenthion  (ISO)
ferroheme b  (EXP)
folic acid  (EXP,ISO)
formaldehyde  (EXP)
fructose  (ISO)
heme b  (EXP)
homocysteine  (ISO)
hydrogen peroxide  (EXP)
ICI D1694  (EXP)
L-ethionine  (ISO)
lipopolysaccharide  (EXP,ISO)
methidathion  (ISO)
methotrexate  (EXP,ISO)
methyl methanesulfonate  (EXP)
miconazole  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nefazodone  (ISO)
nitrofen  (ISO)
omeprazole  (ISO)
paracetamol  (ISO)
pemetrexed  (EXP)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
pyrimethamine  (EXP)
rotenone  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
Soman  (ISO)
sulfasalazine  (EXP,ISO)
sunitinib  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
triptonide  (ISO)
trovafloxacin  (ISO)
tunicamycin  (EXP)
urethane  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
apical plasma membrane  (IDA,IEA)
basolateral plasma membrane  (IDA,IEA)
brush border membrane  (IEA,ISO)
cell surface  (HDA)
cytoplasm  (IEA,ISS)
endosome  (IDA,IEA)
endosome membrane  (IEA)
membrane  (IBA,IEA)
plasma membrane  (IBA,IDA,IEA,TAS)

References

References - curated
# Reference Title Reference Citation
1. Overview of homocysteine and folate metabolism. With special references to cardiovascular disease and neural tube defects. Blom HJ and Smulders Y, J Inherit Metab Dis. 2011 Feb;34(1):75-81. doi: 10.1007/s10545-010-9177-4. Epub 2010 Sep 4.
2. Effect of chronic kidney disease on the expression of thiamin and folic acid transporters. Bukhari FJ, etal., Nephrol Dial Transplant. 2011 Jul;26(7):2137-44. doi: 10.1093/ndt/gfq675. Epub 2010 Dec 13.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB 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
8. Update and new concepts in vitamin responsive disorders of folate transport and metabolism. Watkins D and Rosenblatt DS, J Inherit Metab Dis. 2012 Jul;35(4):665-70. doi: 10.1007/s10545-011-9418-1. Epub 2011 Nov 23.
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:15489334   PMID:16143108   PMID:16344560   PMID:17129779   PMID:17156779   PMID:17335806   PMID:17446347   PMID:17475902   PMID:17947394   PMID:18003745  
PMID:18187620   PMID:18650265   PMID:18718264   PMID:18817749   PMID:18842806   PMID:19074442   PMID:19176287   PMID:19371039   PMID:19389703   PMID:19403800   PMID:19508863   PMID:19581412  
PMID:19643086   PMID:19762432   PMID:19913121   PMID:20005757   PMID:20036773   PMID:20225891   PMID:20301716   PMID:20628086   PMID:20686069   PMID:20724482   PMID:20795774   PMID:20805364  
PMID:21256110   PMID:21333572   PMID:21338559   PMID:21489556   PMID:21602279   PMID:21873635   PMID:22179615   PMID:22345511   PMID:22496243   PMID:22785121   PMID:22843796   PMID:22954694  
PMID:23313509   PMID:23552283   PMID:23601781   PMID:23609145   PMID:23656756   PMID:24396145   PMID:24597986   PMID:25053408   PMID:25080503   PMID:25124723   PMID:25608532   PMID:25697897  
PMID:25801697   PMID:25877470   PMID:26186194   PMID:26193446   PMID:26789141   PMID:26884338   PMID:27251438   PMID:27664775   PMID:28112518   PMID:28138029   PMID:28514442   PMID:28802835  
PMID:28945836   PMID:29167151   PMID:29208467   PMID:29344585   PMID:30858177   PMID:30914440   PMID:31494288   PMID:31791063   PMID:31900314   PMID:31926453   PMID:32493992   PMID:32621820  
PMID:32893190   PMID:33387348   PMID:33737637   PMID:33845483   PMID:34040256   PMID:34619546   PMID:35271311   PMID:35811443   PMID:35944360  


Genomics

Comparative Map Data
SLC46A1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381728,394,642 - 28,406,592 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1728,394,642 - 28,407,197 (-)EnsemblGRCh38hg38GRCh38
GRCh371726,721,661 - 26,733,230 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361723,745,788 - 23,757,355 (-)NCBINCBI36Build 36hg18NCBI36
Celera1723,583,422 - 23,594,992 (-)NCBICelera
Cytogenetic Map17q11.2NCBI
HuRef1722,930,003 - 22,941,574 (-)NCBIHuRef
CHM1_11726,784,574 - 26,796,145 (-)NCBICHM1_1
T2T-CHM13v2.01729,336,494 - 29,348,065 (-)NCBIT2T-CHM13v2.0
Slc46a1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391178,356,527 - 78,362,771 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1178,356,523 - 78,362,885 (+)EnsemblGRCm39 Ensembl
GRCm381178,465,701 - 78,471,945 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1178,465,697 - 78,472,059 (+)EnsemblGRCm38mm10GRCm38
MGSCv371178,279,203 - 78,285,447 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361178,281,913 - 78,288,125 (+)NCBIMGSCv36mm8
Celera1188,097,777 - 88,104,021 (+)NCBICelera
Cytogenetic Map11B5NCBI
cM Map1146.74NCBI
Slc46a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21063,361,504 - 63,367,940 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1063,361,486 - 63,368,848 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1067,994,160 - 68,000,596 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.01067,499,487 - 67,505,923 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.01062,969,164 - 62,975,602 (+)NCBIRnor_WKY
Rnor_6.01065,728,508 - 65,741,708 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1065,733,991 - 65,740,828 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01065,902,790 - 65,915,107 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41064,576,068 - 64,582,504 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11064,589,690 - 64,596,123 (+)NCBI
Celera1062,338,075 - 62,344,511 (+)NCBICelera
Cytogenetic Map10q25NCBI
Slc46a1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554814,734,967 - 4,745,586 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554814,735,325 - 4,741,810 (+)NCBIChiLan1.0ChiLan1.0
SLC46A1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11728,870,678 - 28,877,632 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1728,870,678 - 28,877,632 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01728,367,674 - 28,379,618 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
SLC46A1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1942,638,670 - 42,650,241 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl942,643,328 - 42,650,188 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha941,795,562 - 41,807,087 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0943,457,810 - 43,469,341 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl943,457,858 - 43,469,603 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1942,241,834 - 42,252,876 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0942,533,057 - 42,544,655 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0942,610,324 - 42,621,857 (-)NCBIUU_Cfam_GSD_1.0
Slc46a1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560241,671,087 - 41,763,203 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365384,549,599 - 4,555,415 (-)EnsemblSpeTri2.0
SpeTri2.0NW_0049365384,549,032 - 4,642,870 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC46A1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1244,677,502 - 44,686,250 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11244,677,499 - 44,686,277 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21833,258 - 42,053 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SLC46A1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11622,164,661 - 22,173,376 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1622,166,318 - 22,173,240 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660757,954,712 - 7,965,674 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc46a1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247861,000,444 - 1,007,375 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247861,000,444 - 1,006,984 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLC46A1
235 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_080669.6(SLC46A1):c.1274C>G (p.Pro425Arg) single nucleotide variant Congenital defect of folate absorption [RCV000020948]|not provided [RCV000059712] Chr17:28400658 [GRCh38]
Chr17:26727674 [GRCh37]
Chr17:17q11.2
pathogenic|uncertain significance|not provided
NM_080669.6(SLC46A1):c.197_198delinsAA (p.Cys66Ter) indel Congenital defect of folate absorption [RCV000020949] Chr17:28405917..28405918 [GRCh38]
Chr17:26732935..26732936 [GRCh37]
Chr17:17q11.2
pathogenic
NM_080669.6(SLC46A1):c.439G>C (p.Gly147Arg) single nucleotide variant Congenital defect of folate absorption [RCV000020950]|not provided [RCV000059715] Chr17:28405258 [GRCh38]
Chr17:26732276 [GRCh37]
Chr17:17q11.2
pathogenic|not provided
NM_080669.6(SLC46A1):c.23dup (p.Glu9fs) duplication Congenital defect of folate absorption [RCV000023910] Chr17:28406091..28406092 [GRCh38]
Chr17:26733109..26733110 [GRCh37]
Chr17:17q11.2
pathogenic
NM_080669.6(SLC46A1):c.1004C>A (p.Ala335Asp) single nucleotide variant Congenital defect of folate absorption [RCV000023911]|not provided [RCV000059708] Chr17:28404693 [GRCh38]
Chr17:26731711 [GRCh37]
Chr17:17q11.2
pathogenic|conflicting interpretations of pathogenicity|not provided
NM_080669.6(SLC46A1):c.1012G>C (p.Gly338Arg) single nucleotide variant Congenital defect of folate absorption [RCV000023913]|not provided [RCV000059709] Chr17:28404685 [GRCh38]
Chr17:26731703 [GRCh37]
Chr17:17q11.2
pathogenic|not provided
NM_080669.6(SLC46A1):c.1082-1G>A single nucleotide variant Congenital defect of folate absorption [RCV000000898]|not provided [RCV001851519] Chr17:28402322 [GRCh38]
Chr17:26729340 [GRCh37]
Chr17:17q11.2
pathogenic
NM_080669.6(SLC46A1):c.194del (p.Gly65fs) deletion Congenital defect of folate absorption [RCV000000899] Chr17:28405921 [GRCh38]
Chr17:26732939 [GRCh37]
Chr17:17q11.2
pathogenic
NM_080669.6(SLC46A1):c.337C>A (p.Arg113Ser) single nucleotide variant Congenital defect of folate absorption [RCV000000900]|not provided [RCV000059713] Chr17:28405360 [GRCh38]
Chr17:26732378 [GRCh37]
Chr17:17q11.2
pathogenic|not provided
NM_080669.6(SLC46A1):c.954C>G (p.Ser318Arg) single nucleotide variant Congenital defect of folate absorption [RCV000000901]|not provided [RCV000059717] Chr17:28404743 [GRCh38]
Chr17:26731761 [GRCh37]
Chr17:17q11.2
pathogenic|not provided
NM_080669.6(SLC46A1):c.1126C>T (p.Arg376Trp) single nucleotide variant Congenital defect of folate absorption [RCV000000902]|not provided [RCV000059710] Chr17:28402277 [GRCh38]
Chr17:26729295 [GRCh37]
Chr17:17q11.2
pathogenic|not provided
NM_080669.6(SLC46A1):c.337C>T (p.Arg113Cys) single nucleotide variant Congenital defect of folate absorption [RCV000000903]|not provided [RCV000059714] Chr17:28405360 [GRCh38]
Chr17:26732378 [GRCh37]
Chr17:17q11.2
pathogenic|not provided
NM_080669.6(SLC46A1):c.190G>C (p.Gly64Arg) single nucleotide variant not provided [RCV002001777] Chr17:28405925 [GRCh38]
Chr17:26732943 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.1258T>C (p.Phe420Leu) single nucleotide variant Congenital defect of folate absorption [RCV002476074]|not specified [RCV000522710] Chr17:28400674 [GRCh38]
Chr17:26727690 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.204_205del (p.Asn68fs) deletion Congenital defect of folate absorption [RCV000023912] Chr17:28405910..28405911 [GRCh38]
Chr17:26732928..26732929 [GRCh37]
Chr17:17q11.2
pathogenic
NM_080669.6(SLC46A1):c.1127G>A (p.Arg376Gln) single nucleotide variant Congenital defect of folate absorption [RCV000055980]|not provided [RCV000059711] Chr17:28402276 [GRCh38]
Chr17:26729294 [GRCh37]
Chr17:17q11.2
pathogenic|not provided
NM_080669.6(SLC46A1):c.194dup (p.Cys66fs) duplication Congenital defect of folate absorption [RCV000055981] Chr17:28405920..28405921 [GRCh38]
Chr17:26732938..26732939 [GRCh37]
Chr17:17q11.2
pathogenic
NM_080669.6(SLC46A1):c.466G>T (p.Asp156Tyr) single nucleotide variant not provided [RCV000059716] Chr17:28405231 [GRCh38]
Chr17:26732249 [GRCh37]
Chr17:17q11.2
pathogenic|not provided
NM_080669.6(SLC46A1):c.23dup (p.Glu9fs) duplication Congenital defect of folate absorption [RCV000055983] Chr17:28406091..28406092 [GRCh38]
Chr17:26733109..26733110 [GRCh37]
Chr17:17q11.2
pathogenic
NM_080669.6(SLC46A1):c.22C>T (p.Pro8Ser) single nucleotide variant Congenital defect of folate absorption [RCV000278067]|not provided [RCV000173552] Chr17:28406093 [GRCh38]
Chr17:26733111 [GRCh37]
Chr17:17q11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_080669.6(SLC46A1):c.158C>T (p.Ala53Val) single nucleotide variant Congenital defect of folate absorption [RCV000374961]|not provided [RCV000173553] Chr17:28405957 [GRCh38]
Chr17:26732975 [GRCh37]
Chr17:17q11.2
conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 17q11.2(chr17:28283125-28904397)x3 copy number gain See cases [RCV000136494] Chr17:28283125..28904397 [GRCh38]
Chr17:26610151..27231415 [GRCh37]
Chr17:23634278..24255541 [NCBI36]
Chr17:17q11.2
benign
GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3 copy number gain not provided [RCV000762776] Chr17:25403446..31685464 [GRCh37]
Chr17:17q11.1-11.2
likely pathogenic
NM_080669.6(SLC46A1):c.1366C>T (p.Pro456Ser) single nucleotide variant not provided [RCV000223986]|not specified [RCV000362252] Chr17:28399670 [GRCh38]
Chr17:26726686 [GRCh37]
Chr17:17q11.2
benign|likely benign
NM_080669.6(SLC46A1):c.623A>T (p.Tyr208Phe) single nucleotide variant Congenital defect of folate absorption [RCV000333408]|Intellectual disability [RCV001251647]|not provided [RCV001857840]|not specified [RCV000238917] Chr17:28405074 [GRCh38]
Chr17:26732092 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*1392C>A single nucleotide variant Congenital defect of folate absorption [RCV000267232] Chr17:28398264 [GRCh38]
Chr17:26725280 [GRCh37]
Chr17:17q11.2
likely benign|uncertain significance
NM_080669.6(SLC46A1):c.*3603C>T single nucleotide variant Congenital defect of folate absorption [RCV000285734] Chr17:28396053 [GRCh38]
Chr17:26723072 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*2513G>C single nucleotide variant Congenital defect of folate absorption [RCV000286502] Chr17:28397143 [GRCh38]
Chr17:26724162 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*4316C>G single nucleotide variant Congenital defect of folate absorption [RCV000268926] Chr17:28395340 [GRCh38]
Chr17:26722359 [GRCh37]
Chr17:17q11.2
likely benign|uncertain significance
NM_080669.6(SLC46A1):c.*2853G>A single nucleotide variant Congenital defect of folate absorption [RCV000274595] Chr17:28396803 [GRCh38]
Chr17:26723822 [GRCh37]
Chr17:17q11.2
benign|likely benign
NM_080669.6(SLC46A1):c.462C>T (p.Leu154=) single nucleotide variant Congenital defect of folate absorption [RCV000274945] Chr17:28405235 [GRCh38]
Chr17:26732253 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.642G>A (p.Leu214=) single nucleotide variant Congenital defect of folate absorption [RCV000276009]|not provided [RCV000909251] Chr17:28405055 [GRCh38]
Chr17:26732073 [GRCh37]
Chr17:17q11.2
likely benign|uncertain significance
NM_080669.6(SLC46A1):c.*1981C>G single nucleotide variant Congenital defect of folate absorption [RCV000295159] Chr17:28397675 [GRCh38]
Chr17:26724694 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*835A>G single nucleotide variant Congenital defect of folate absorption [RCV000295940] Chr17:28398821 [GRCh38]
Chr17:26725837 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*692A>T single nucleotide variant Congenital defect of folate absorption [RCV000280742] Chr17:28398964 [GRCh38]
Chr17:26725980 [GRCh37]
Chr17:17q11.2
benign|uncertain significance
NM_080669.6(SLC46A1):c.*3785T>C single nucleotide variant Congenital defect of folate absorption [RCV000280818] Chr17:28395871 [GRCh38]
Chr17:26722890 [GRCh37]
Chr17:17q11.2
benign|likely benign
NM_080669.6(SLC46A1):c.*3402A>G single nucleotide variant Congenital defect of folate absorption [RCV000342990] Chr17:28396254 [GRCh38]
Chr17:26723273 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*1062G>A single nucleotide variant Congenital defect of folate absorption [RCV000268706] Chr17:28398594 [GRCh38]
Chr17:26725610 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*4323C>G single nucleotide variant Congenital defect of folate absorption [RCV000308569] Chr17:28395333 [GRCh38]
Chr17:26722352 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*2661G>C single nucleotide variant Congenital defect of folate absorption [RCV000259432] Chr17:28396995 [GRCh38]
Chr17:26724014 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*2248T>C single nucleotide variant Congenital defect of folate absorption [RCV000344578] Chr17:28397408 [GRCh38]
Chr17:26724427 [GRCh37]
Chr17:17q11.2
benign|uncertain significance
NM_080669.6(SLC46A1):c.*2968C>T single nucleotide variant Congenital defect of folate absorption [RCV000366905] Chr17:28396688 [GRCh38]
Chr17:26723707 [GRCh37]
Chr17:17q11.2
benign|likely benign
NM_080669.6(SLC46A1):c.*1648G>A single nucleotide variant Congenital defect of folate absorption [RCV000392934] Chr17:28398008 [GRCh38]
Chr17:26725024 [GRCh37]
Chr17:17q11.2
likely benign|uncertain significance
NM_080669.6(SLC46A1):c.*4634_*4635dup duplication Congenital defect of folate absorption [RCV000272227] Chr17:28395020..28395021 [GRCh38]
Chr17:26722039..26722040 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*3947G>A single nucleotide variant Congenital defect of folate absorption [RCV000274827] Chr17:28395709 [GRCh38]
Chr17:26722728 [GRCh37]
Chr17:17q11.2
benign
NM_080669.6(SLC46A1):c.*1332G>A single nucleotide variant Congenital defect of folate absorption [RCV000324756] Chr17:28398324 [GRCh38]
Chr17:26725340 [GRCh37]
Chr17:17q11.2
likely benign|uncertain significance
NM_080669.6(SLC46A1):c.904A>C (p.Lys302Gln) single nucleotide variant Congenital defect of folate absorption [RCV000272627]|not provided [RCV001850720] Chr17:28404793 [GRCh38]
Chr17:26731811 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*3661T>C single nucleotide variant Congenital defect of folate absorption [RCV000371910] Chr17:28395995 [GRCh38]
Chr17:26723014 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*1795C>T single nucleotide variant Congenital defect of folate absorption [RCV000398253] Chr17:28397861 [GRCh38]
Chr17:26724877 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.756C>G (p.Val252=) single nucleotide variant Congenital defect of folate absorption [RCV001125037]|not provided [RCV000881934]|not specified [RCV000346040] Chr17:28404941 [GRCh38]
Chr17:26731959 [GRCh37]
Chr17:17q11.2
benign|likely benign
NM_080669.6(SLC46A1):c.*3135A>G single nucleotide variant Congenital defect of folate absorption [RCV000306576] Chr17:28396521 [GRCh38]
Chr17:26723540 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.752T>C (p.Ile251Thr) single nucleotide variant Congenital defect of folate absorption [RCV000306800] Chr17:28404945 [GRCh38]
Chr17:26731963 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*1094A>G single nucleotide variant Congenital defect of folate absorption [RCV000327318] Chr17:28398562 [GRCh38]
Chr17:26725578 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*3389G>A single nucleotide variant Congenital defect of folate absorption [RCV000399865] Chr17:28396267 [GRCh38]
Chr17:26723286 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*4780C>T single nucleotide variant Congenital defect of folate absorption [RCV000400077] Chr17:28394876 [GRCh38]
Chr17:26721895 [GRCh37]
Chr17:17q11.2
benign
NM_080669.6(SLC46A1):c.*2558C>T single nucleotide variant Congenital defect of folate absorption [RCV000378523] Chr17:28397098 [GRCh38]
Chr17:26724117 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*1831C>A single nucleotide variant Congenital defect of folate absorption [RCV000352351] Chr17:28397825 [GRCh38]
Chr17:26724844 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*4635dup duplication Congenital defect of folate absorption [RCV000357707] Chr17:28395020..28395021 [GRCh38]
Chr17:26722039..26722040 [GRCh37]
Chr17:17q11.2
benign
NM_080669.6(SLC46A1):c.*4030C>T single nucleotide variant Congenital defect of folate absorption [RCV000333269] Chr17:28395626 [GRCh38]
Chr17:26722645 [GRCh37]
Chr17:17q11.2
benign
NM_080669.6(SLC46A1):c.*1407C>T single nucleotide variant Congenital defect of folate absorption [RCV000354966] Chr17:28398249 [GRCh38]
Chr17:26725265 [GRCh37]
Chr17:17q11.2
benign
NM_080669.6(SLC46A1):c.*1649A>G single nucleotide variant Congenital defect of folate absorption [RCV000356323] Chr17:28398007 [GRCh38]
Chr17:26725023 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*928A>G single nucleotide variant Congenital defect of folate absorption [RCV000387903] Chr17:28398728 [GRCh38]
Chr17:26725744 [GRCh37]
Chr17:17q11.2
benign
NM_080669.6(SLC46A1):c.*1220A>G single nucleotide variant Congenital defect of folate absorption [RCV000265250] Chr17:28398436 [GRCh38]
Chr17:26725452 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*2273A>G single nucleotide variant Congenital defect of folate absorption [RCV000291953] Chr17:28397383 [GRCh38]
Chr17:26724402 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*3009= single nucleotide variant Congenital defect of folate absorption [RCV000393802] Chr17:28396647 [GRCh38]
Chr17:26723666 [GRCh37]
Chr17:17q11.2
benign
NM_080669.6(SLC46A1):c.*1774A>G single nucleotide variant Congenital defect of folate absorption [RCV000313200] Chr17:28397882 [GRCh38]
Chr17:26724898 [GRCh37]
Chr17:17q11.2
benign|uncertain significance
NM_080669.6(SLC46A1):c.*4729del deletion Congenital defect of folate absorption [RCV000335261] Chr17:28394927 [GRCh38]
Chr17:26721946 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.-67G>T single nucleotide variant Congenital defect of folate absorption [RCV000335494] Chr17:28406181 [GRCh38]
Chr17:26733199 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*1243A>G single nucleotide variant Congenital defect of folate absorption [RCV000358501] Chr17:28398413 [GRCh38]
Chr17:26725429 [GRCh37]
Chr17:17q11.2
benign|uncertain significance
NM_080669.6(SLC46A1):c.*2401G>A single nucleotide variant Congenital defect of folate absorption [RCV000383866] Chr17:28397255 [GRCh38]
Chr17:26724274 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*1076G>A single nucleotide variant Congenital defect of folate absorption [RCV000384175] Chr17:28398580 [GRCh38]
Chr17:26725596 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*11C>T single nucleotide variant Congenital defect of folate absorption [RCV000407925] Chr17:28399645 [GRCh38]
Chr17:26726661 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*4661G>A single nucleotide variant Congenital defect of folate absorption [RCV000408265] Chr17:28394995 [GRCh38]
Chr17:26722014 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.512T>A (p.Val171Asp) single nucleotide variant Congenital defect of folate absorption [RCV000385629]|not provided [RCV001317868] Chr17:28405185 [GRCh38]
Chr17:26732203 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*90G>A single nucleotide variant Congenital defect of folate absorption [RCV000298711] Chr17:28399566 [GRCh38]
Chr17:26726582 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*2123G>C single nucleotide variant Congenital defect of folate absorption [RCV000399385] Chr17:28397533 [GRCh38]
Chr17:26724552 [GRCh37]
Chr17:17q11.2
likely benign
NM_080669.6(SLC46A1):c.*3009G>A single nucleotide variant Congenital defect of folate absorption [RCV000314819] Chr17:28396647 [GRCh38]
Chr17:26723666 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*4884G>T single nucleotide variant Congenital defect of folate absorption [RCV000338843] Chr17:28394772 [GRCh38]
Chr17:26721791 [GRCh37]
Chr17:17q11.2
benign
NM_080669.6(SLC46A1):c.*729G>A single nucleotide variant Congenital defect of folate absorption [RCV000386777] Chr17:28398927 [GRCh38]
Chr17:26725943 [GRCh37]
Chr17:17q11.2
benign|likely benign
NM_080669.6(SLC46A1):c.*3266G>A single nucleotide variant Congenital defect of folate absorption [RCV000346331] Chr17:28396390 [GRCh38]
Chr17:26723409 [GRCh37]
Chr17:17q11.2
benign|likely benign
NM_080669.6(SLC46A1):c.*2636C>A single nucleotide variant Congenital defect of folate absorption [RCV000317065] Chr17:28397020 [GRCh38]
Chr17:26724039 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*2843G>A single nucleotide variant Congenital defect of folate absorption [RCV000317969] Chr17:28396813 [GRCh38]
Chr17:26723832 [GRCh37]
Chr17:17q11.2
benign|likely benign
NM_080669.6(SLC46A1):c.*3062C>A single nucleotide variant Congenital defect of folate absorption [RCV000363548] Chr17:28396594 [GRCh38]
Chr17:26723613 [GRCh37]
Chr17:17q11.2
benign
NM_080669.6(SLC46A1):c.294C>A (p.Leu98=) single nucleotide variant Congenital defect of folate absorption [RCV000318062]|not provided [RCV000884207] Chr17:28405403 [GRCh38]
Chr17:26732421 [GRCh37]
Chr17:17q11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_080669.6(SLC46A1):c.*60G>T single nucleotide variant Congenital defect of folate absorption [RCV000341920] Chr17:28399596 [GRCh38]
Chr17:26726612 [GRCh37]
Chr17:17q11.2
likely benign|uncertain significance
NM_080669.6(SLC46A1):c.*4320A>G single nucleotide variant Congenital defect of folate absorption [RCV000363499] Chr17:28395336 [GRCh38]
Chr17:26722355 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*4636C>T single nucleotide variant Congenital defect of folate absorption [RCV000302875] Chr17:28395020 [GRCh38]
Chr17:26722039 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*3913A>T single nucleotide variant Congenital defect of folate absorption [RCV000329914] Chr17:28395743 [GRCh38]
Chr17:26722762 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.667A>T (p.Thr223Ser) single nucleotide variant Congenital defect of folate absorption [RCV000363776] Chr17:28405030 [GRCh38]
Chr17:26732048 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*129C>T single nucleotide variant Congenital defect of folate absorption [RCV000401508] Chr17:28399527 [GRCh38]
Chr17:26726543 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*3677C>G single nucleotide variant Congenital defect of folate absorption [RCV000317240] Chr17:28395979 [GRCh38]
Chr17:26722998 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.1367C>T (p.Pro456Leu) single nucleotide variant Congenital defect of folate absorption [RCV000364928] Chr17:28399669 [GRCh38]
Chr17:26726685 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*785T>G single nucleotide variant Congenital defect of folate absorption [RCV000348467] Chr17:28398871 [GRCh38]
Chr17:26725887 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*3302A>G single nucleotide variant Congenital defect of folate absorption [RCV000284471] Chr17:28396354 [GRCh38]
Chr17:26723373 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*3959C>G single nucleotide variant Congenital defect of folate absorption [RCV000387826] Chr17:28395697 [GRCh38]
Chr17:26722716 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*2493A>G single nucleotide variant Congenital defect of folate absorption [RCV000322318] Chr17:28397163 [GRCh38]
Chr17:26724182 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*1627T>A single nucleotide variant Congenital defect of folate absorption [RCV000297964] Chr17:28398029 [GRCh38]
Chr17:26725045 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*277A>G single nucleotide variant Congenital defect of folate absorption [RCV000338155] Chr17:28399379 [GRCh38]
Chr17:26726395 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*4742A>G single nucleotide variant Congenital defect of folate absorption [RCV000298905] Chr17:28394914 [GRCh38]
Chr17:26721933 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*2808G>C single nucleotide variant Congenital defect of folate absorption [RCV000356364] Chr17:28396848 [GRCh38]
Chr17:26723867 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*3203A>G single nucleotide variant Congenital defect of folate absorption [RCV000393778] Chr17:28396453 [GRCh38]
Chr17:26723472 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*1006A>C single nucleotide variant Congenital defect of folate absorption [RCV000326291] Chr17:28398650 [GRCh38]
Chr17:26725666 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*3789C>A single nucleotide variant Congenital defect of folate absorption [RCV000375290] Chr17:28395867 [GRCh38]
Chr17:26722886 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*4G>T single nucleotide variant Congenital defect of folate absorption [RCV000302182] Chr17:28399652 [GRCh38]
Chr17:26726668 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_015077.4(SARM1):c.*4420= deletion not provided [RCV000986184]|not specified [RCV000454605] Chr17:28400706 [GRCh38]
Chr17:26727722 [GRCh37]
Chr17:17q11.2
benign
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1 copy number loss Mitogen-activated protein kinase kinase inhibitor response [RCV000626439] Chr17:25248166..30645676 [GRCh37]
Chr17:17q11.1-11.2
drug response
NM_080669.6(SLC46A1):c.189G>C (p.Arg63Ser) single nucleotide variant Congenital defect of folate absorption [RCV001128117]|not provided [RCV000893862]|not specified [RCV000602451] Chr17:28405926 [GRCh38]
Chr17:26732944 [GRCh37]
Chr17:17q11.2
benign|likely benign
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p11.2-q11.2(chr17:21279289-27474974)x2 copy number gain not provided [RCV000739439] Chr17:21279289..27474974 [GRCh37]
Chr17:17p11.2-q11.2
likely pathogenic
GRCh37/hg19 17q11.2(chr17:26619789-26723666)x1 copy number loss not provided [RCV000751972] Chr17:26619789..26723666 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.981_982del (p.Tyr327_Cys328delinsTer) deletion Congenital defect of folate absorption [RCV002488075]|not provided [RCV000986185] Chr17:28404715..28404716 [GRCh38]
Chr17:26731733..26731734 [GRCh37]
Chr17:17q11.2
pathogenic|likely pathogenic
NM_080669.6(SLC46A1):c.810C>T (p.Tyr270=) single nucleotide variant not provided [RCV000882483] Chr17:28404887 [GRCh38]
Chr17:26731905 [GRCh37]
Chr17:17q11.2
likely benign
NM_080669.6(SLC46A1):c.883A>G (p.Thr295Ala) single nucleotide variant Congenital defect of folate absorption [RCV001125035]|not provided [RCV000948993] Chr17:28404814 [GRCh38]
Chr17:26731832 [GRCh37]
Chr17:17q11.2
benign|likely benign
NM_080669.6(SLC46A1):c.414G>A (p.Gln138=) single nucleotide variant not provided [RCV000884103] Chr17:28405283 [GRCh38]
Chr17:26732301 [GRCh37]
Chr17:17q11.2
likely benign
NM_080669.6(SLC46A1):c.565G>C (p.Gly189Arg) single nucleotide variant not provided [RCV001090738] Chr17:28405132 [GRCh38]
Chr17:26732150 [GRCh37]
Chr17:17q11.2
uncertain significance
GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3 copy number gain not provided [RCV000846852] Chr17:21690653..38772647 [GRCh37]
Chr17:17p11.2-q21.2
pathogenic
NM_080669.6(SLC46A1):c.*4584C>T single nucleotide variant Congenital defect of folate absorption [RCV001121963] Chr17:28395072 [GRCh38]
Chr17:26722091 [GRCh37]
Chr17:17q11.2
benign
NM_015077.4(SARM1):c.1924-667G>A single nucleotide variant Congenital defect of folate absorption [RCV001121964] Chr17:28395238 [GRCh38]
Chr17:26722257 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*3985A>T single nucleotide variant Congenital defect of folate absorption [RCV001124737] Chr17:28395671 [GRCh38]
Chr17:26722690 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*4804T>A single nucleotide variant Congenital defect of folate absorption [RCV001127745] Chr17:28394852 [GRCh38]
Chr17:26721871 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*1839G>A single nucleotide variant Congenital defect of folate absorption [RCV001122164] Chr17:28397817 [GRCh38]
Chr17:26724836 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*1383A>G single nucleotide variant Congenital defect of folate absorption [RCV001124936] Chr17:28398273 [GRCh38]
Chr17:26725289 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*1336G>A single nucleotide variant Congenital defect of folate absorption [RCV001124937] Chr17:28398320 [GRCh38]
Chr17:26725336 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*2217A>G single nucleotide variant Congenital defect of folate absorption [RCV001127926] Chr17:28397439 [GRCh38]
Chr17:26724458 [GRCh37]
Chr17:17q11.2
benign
NM_080669.6(SLC46A1):c.389T>C (p.Val130Ala) single nucleotide variant Congenital defect of folate absorption [RCV001126020] Chr17:28405308 [GRCh38]
Chr17:26732326 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.1082-114T>C single nucleotide variant not provided [RCV001671478] Chr17:28402435 [GRCh38]
Chr17:26729453 [GRCh37]
Chr17:17q11.2
benign
NM_080669.6(SLC46A1):c.972C>T (p.Leu324=) single nucleotide variant Congenital defect of folate absorption [RCV001122258]|not provided [RCV000885779] Chr17:28404725 [GRCh38]
Chr17:26731743 [GRCh37]
Chr17:17q11.2
likely benign|uncertain significance
NM_080669.6(SLC46A1):c.*2262G>A single nucleotide variant Congenital defect of folate absorption [RCV001127925] Chr17:28397394 [GRCh38]
Chr17:26724413 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*2852C>T single nucleotide variant Congenital defect of folate absorption [RCV001124830] Chr17:28396804 [GRCh38]
Chr17:26723823 [GRCh37]
Chr17:17q11.2
likely benign
NM_080669.6(SLC46A1):c.*2746G>A single nucleotide variant Congenital defect of folate absorption [RCV001124831] Chr17:28396910 [GRCh38]
Chr17:26723929 [GRCh37]
Chr17:17q11.2
benign
NM_080669.6(SLC46A1):c.1011C>T (p.Ile337=) single nucleotide variant not provided [RCV000912866] Chr17:28404686 [GRCh38]
Chr17:26731704 [GRCh37]
Chr17:17q11.2
likely benign
NM_080669.6(SLC46A1):c.191G>A (p.Gly64Glu) single nucleotide variant See cases [RCV002252388] Chr17:28405924 [GRCh38]
Chr17:26732942 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.1082-89G>A single nucleotide variant not provided [RCV001654714] Chr17:28402410 [GRCh38]
Chr17:26729428 [GRCh37]
Chr17:17q11.2
benign
NM_080669.6(SLC46A1):c.1322+249= single nucleotide variant not provided [RCV001678216] Chr17:28400361 [GRCh38]
Chr17:26727377 [GRCh37]
Chr17:17q11.2
benign
NM_080669.6(SLC46A1):c.*4071G>A single nucleotide variant Congenital defect of folate absorption [RCV001124735] Chr17:28395585 [GRCh38]
Chr17:26722604 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*4035G>A single nucleotide variant Congenital defect of folate absorption [RCV001124736] Chr17:28395621 [GRCh38]
Chr17:26722640 [GRCh37]
Chr17:17q11.2
likely benign
NM_080669.6(SLC46A1):c.*671C>T single nucleotide variant Congenital defect of folate absorption [RCV001128015] Chr17:28398985 [GRCh38]
Chr17:26726001 [GRCh37]
Chr17:17q11.2
benign
NM_080669.6(SLC46A1):c.*476G>A single nucleotide variant Congenital defect of folate absorption [RCV001128016] Chr17:28399180 [GRCh38]
Chr17:26726196 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*351C>T single nucleotide variant Congenital defect of folate absorption [RCV001128017] Chr17:28399305 [GRCh38]
Chr17:26726321 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.277G>A (p.Gly93Ser) single nucleotide variant Congenital defect of folate absorption [RCV001128115] Chr17:28405420 [GRCh38]
Chr17:26732438 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.85G>A (p.Val29Ile) single nucleotide variant Congenital defect of folate absorption [RCV001128118]|not provided [RCV001503711] Chr17:28406030 [GRCh38]
Chr17:26733048 [GRCh37]
Chr17:17q11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_080669.6(SLC46A1):c.-8G>A single nucleotide variant Congenital defect of folate absorption [RCV001128119] Chr17:28406122 [GRCh38]
Chr17:26733140 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*1298G>A single nucleotide variant Congenital defect of folate absorption [RCV001124939] Chr17:28398358 [GRCh38]
Chr17:26725374 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.849G>A (p.Gly283=) single nucleotide variant Congenital defect of folate absorption [RCV001125036] Chr17:28404848 [GRCh38]
Chr17:26731866 [GRCh37]
Chr17:17q11.2
uncertain significance
GRCh37/hg19 17q11.1-11.2(chr17:25274363-28450707)x3 copy number gain not provided [RCV001006886] Chr17:25274363..28450707 [GRCh37]
Chr17:17q11.1-11.2
pathogenic
NM_080669.6(SLC46A1):c.*2901C>T single nucleotide variant Congenital defect of folate absorption [RCV001124828] Chr17:28396755 [GRCh38]
Chr17:26723774 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*2868G>A single nucleotide variant Congenital defect of folate absorption [RCV001124829] Chr17:28396788 [GRCh38]
Chr17:26723807 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.898G>A (p.Asp300Asn) single nucleotide variant Congenital defect of folate absorption [RCV001125034] Chr17:28404799 [GRCh38]
Chr17:26731817 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*2724G>C single nucleotide variant Congenital defect of folate absorption [RCV001125811] Chr17:28396932 [GRCh38]
Chr17:26723951 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.295T>C (p.Phe99Leu) single nucleotide variant Congenital defect of folate absorption [RCV001126021]|not provided [RCV001856650] Chr17:28405402 [GRCh38]
Chr17:26732420 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*2486T>C single nucleotide variant Congenital defect of folate absorption [RCV001125812] Chr17:28397170 [GRCh38]
Chr17:26724189 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*3120A>G single nucleotide variant Congenital defect of folate absorption [RCV001122060] Chr17:28396536 [GRCh38]
Chr17:26723555 [GRCh37]
Chr17:17q11.2
likely benign
NM_080669.6(SLC46A1):c.*3456G>C single nucleotide variant Congenital defect of folate absorption [RCV001127834] Chr17:28396200 [GRCh38]
Chr17:26723219 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*297C>T single nucleotide variant Congenital defect of folate absorption [RCV001128018] Chr17:28399359 [GRCh38]
Chr17:26726375 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.189G>T (p.Arg63Ser) single nucleotide variant Congenital defect of folate absorption [RCV001128116]|not provided [RCV002070492] Chr17:28405926 [GRCh38]
Chr17:26732944 [GRCh37]
Chr17:17q11.2
likely benign|uncertain significance
NM_080669.6(SLC46A1):c.*4184T>G single nucleotide variant Congenital defect of folate absorption [RCV001121965] Chr17:28395472 [GRCh38]
Chr17:26722491 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*2027C>A single nucleotide variant Congenital defect of folate absorption [RCV001127927] Chr17:28397629 [GRCh38]
Chr17:26724648 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*1981C>T single nucleotide variant Congenital defect of folate absorption [RCV001127928] Chr17:28397675 [GRCh38]
Chr17:26724694 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*1521G>A single nucleotide variant Congenital defect of folate absorption [RCV001122165] Chr17:28398135 [GRCh38]
Chr17:26725151 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.501C>G (p.Ser167=) single nucleotide variant Congenital defect of folate absorption [RCV001126019] Chr17:28405196 [GRCh38]
Chr17:26732214 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*2945G>A single nucleotide variant Congenital defect of folate absorption [RCV001122061] Chr17:28396711 [GRCh38]
Chr17:26723730 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*3279C>T single nucleotide variant Congenital defect of folate absorption [RCV001127835] Chr17:28396377 [GRCh38]
Chr17:26723396 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*4158G>A single nucleotide variant Congenital defect of folate absorption [RCV001124733] Chr17:28395498 [GRCh38]
Chr17:26722517 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*4091C>A single nucleotide variant Congenital defect of folate absorption [RCV001124734] Chr17:28395565 [GRCh38]
Chr17:26722584 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*1335C>T single nucleotide variant Congenital defect of folate absorption [RCV001124938] Chr17:28398321 [GRCh38]
Chr17:26725337 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.*1249G>A single nucleotide variant Congenital defect of folate absorption [RCV001124940] Chr17:28398407 [GRCh38]
Chr17:26725423 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.906A>G (p.Lys302=) single nucleotide variant Congenital defect of folate absorption [RCV001125033]|not provided [RCV002070036] Chr17:28404791 [GRCh38]
Chr17:26731809 [GRCh37]
Chr17:17q11.2
benign|likely benign
NM_080669.6(SLC46A1):c.1061T>G (p.Ile354Ser) single nucleotide variant Congenital defect of folate absorption [RCV001332794] Chr17:28404636 [GRCh38]
Chr17:26731654 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.228+17G>A single nucleotide variant not provided [RCV001513591] Chr17:28405870 [GRCh38]
Chr17:26732888 [GRCh37]
Chr17:17q11.2
benign
NM_080669.6(SLC46A1):c.1323-20C>G single nucleotide variant not provided [RCV001405858] Chr17:28399733 [GRCh38]
Chr17:26726749 [GRCh37]
Chr17:17q11.2
likely benign
NM_080669.6(SLC46A1):c.384C>T (p.Ala128=) single nucleotide variant not provided [RCV001409349] Chr17:28405313 [GRCh38]
Chr17:26732331 [GRCh37]
Chr17:17q11.2
likely benign
NM_080669.6(SLC46A1):c.843C>T (p.His281=) single nucleotide variant not provided [RCV001478388] Chr17:28404854 [GRCh38]
Chr17:26731872 [GRCh37]
Chr17:17q11.2
likely benign
NM_080669.6(SLC46A1):c.74T>C (p.Val25Ala) single nucleotide variant not provided [RCV001767347] Chr17:28406041 [GRCh38]
Chr17:26733059 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.167G>T (p.Gly56Val) single nucleotide variant not provided [RCV001982647] Chr17:28405948 [GRCh38]
Chr17:26732966 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.817G>T (p.Ala273Ser) single nucleotide variant Congenital defect of folate absorption [RCV001761672]|not provided [RCV001868771] Chr17:28404880 [GRCh38]
Chr17:26731898 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.1037T>C (p.Met346Thr) single nucleotide variant not provided [RCV001869494]|not specified [RCV001806738] Chr17:28404660 [GRCh38]
Chr17:26731678 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.159C>T (p.Ala53=) single nucleotide variant not provided [RCV001915328] Chr17:28405956 [GRCh38]
Chr17:26732974 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.442C>A (p.Arg148Ser) single nucleotide variant not provided [RCV001896909] Chr17:28405255 [GRCh38]
Chr17:26732273 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.1307C>T (p.Pro436Leu) single nucleotide variant not provided [RCV001984472] Chr17:28400625 [GRCh38]
Chr17:26727641 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.775G>A (p.Ala259Thr) single nucleotide variant not provided [RCV001928195] Chr17:28404922 [GRCh38]
Chr17:26731940 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.518C>A (p.Ser173Tyr) single nucleotide variant not provided [RCV001895633] Chr17:28405179 [GRCh38]
Chr17:26732197 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.487G>T (p.Ala163Ser) single nucleotide variant not provided [RCV001890307] Chr17:28405210 [GRCh38]
Chr17:26732228 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.1308G>A (p.Pro436=) single nucleotide variant not provided [RCV001890714] Chr17:28400624 [GRCh38]
Chr17:26727640 [GRCh37]
Chr17:17q11.2
uncertain significance
GRCh37/hg19 17p11.2-q11.2(chr17:21690653-28281232) copy number gain not specified [RCV002052591] Chr17:21690653..28281232 [GRCh37]
Chr17:17p11.2-q11.2
pathogenic
NM_080669.6(SLC46A1):c.65G>A (p.Arg22Gln) single nucleotide variant not provided [RCV002039765] Chr17:28406050 [GRCh38]
Chr17:26733068 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.1073T>A (p.Met358Lys) single nucleotide variant not provided [RCV002043481] Chr17:28404624 [GRCh38]
Chr17:26731642 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.1064C>T (p.Thr355Met) single nucleotide variant not provided [RCV001891171] Chr17:28404633 [GRCh38]
Chr17:26731651 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.340C>G (p.Arg114Gly) single nucleotide variant not provided [RCV002024354] Chr17:28405357 [GRCh38]
Chr17:26732375 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.572C>T (p.Ala191Val) single nucleotide variant not provided [RCV002020468] Chr17:28405125 [GRCh38]
Chr17:26732143 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.746G>C (p.Arg249Pro) single nucleotide variant not provided [RCV001893417] Chr17:28404951 [GRCh38]
Chr17:26731969 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.737G>A (p.Arg246His) single nucleotide variant not provided [RCV001926615] Chr17:28404960 [GRCh38]
Chr17:26731978 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.742C>T (p.His248Tyr) single nucleotide variant not provided [RCV002044348] Chr17:28404955 [GRCh38]
Chr17:26731973 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.1202T>C (p.Leu401Pro) single nucleotide variant not provided [RCV001969998] Chr17:28400730 [GRCh38]
Chr17:26727747 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.1011C>G (p.Ile337Met) single nucleotide variant not provided [RCV002042055] Chr17:28404686 [GRCh38]
Chr17:26731704 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.37G>C (p.Ala13Pro) single nucleotide variant not provided [RCV001985667] Chr17:28406078 [GRCh38]
Chr17:26733096 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.194G>T (p.Gly65Val) single nucleotide variant not provided [RCV001947587] Chr17:28405921 [GRCh38]
Chr17:26732939 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.539G>T (p.Arg180Leu) single nucleotide variant not provided [RCV001895215] Chr17:28405158 [GRCh38]
Chr17:26732176 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.1256A>G (p.Asn419Ser) single nucleotide variant not provided [RCV001869872]|not specified [RCV001844743] Chr17:28400676 [GRCh38]
Chr17:26727692 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.821T>A (p.Ile274Asn) single nucleotide variant not provided [RCV002041065] Chr17:28404876 [GRCh38]
Chr17:26731894 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.1286G>A (p.Gly429Glu) single nucleotide variant not provided [RCV001887487] Chr17:28400646 [GRCh38]
Chr17:26727662 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.329G>A (p.Ser110Asn) single nucleotide variant not provided [RCV001922227] Chr17:28405368 [GRCh38]
Chr17:26732386 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.1310C>A (p.Ala437Asp) single nucleotide variant not provided [RCV001944807] Chr17:28400622 [GRCh38]
Chr17:26727638 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.1236_1239del (p.Leu413fs) microsatellite not provided [RCV001963006] Chr17:28400693..28400696 [GRCh38]
Chr17:26727709..26727712 [GRCh37]
Chr17:17q11.2
pathogenic
NM_080669.6(SLC46A1):c.1148T>C (p.Val383Ala) single nucleotide variant not provided [RCV001961756] Chr17:28402255 [GRCh38]
Chr17:26729273 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.729C>G (p.Phe243Leu) single nucleotide variant not provided [RCV002029784] Chr17:28404968 [GRCh38]
Chr17:26731986 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.43C>T (p.Pro15Ser) single nucleotide variant not provided [RCV001998270] Chr17:28406072 [GRCh38]
Chr17:26733090 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.413A>G (p.Gln138Arg) single nucleotide variant not provided [RCV001867795] Chr17:28405284 [GRCh38]
Chr17:26732302 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.1169C>T (p.Ala390Val) single nucleotide variant not provided [RCV001999342] Chr17:28400763 [GRCh38]
Chr17:26727780 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.370C>G (p.Leu124Val) single nucleotide variant not provided [RCV001999441] Chr17:28405327 [GRCh38]
Chr17:26732345 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.383C>T (p.Ala128Val) single nucleotide variant not provided [RCV001962102] Chr17:28405314 [GRCh38]
Chr17:26732332 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.20C>A (p.Pro7His) single nucleotide variant not provided [RCV002046339] Chr17:28406095 [GRCh38]
Chr17:26733113 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.460C>T (p.Leu154Phe) single nucleotide variant not provided [RCV001999622] Chr17:28405237 [GRCh38]
Chr17:26732255 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.1171C>G (p.Leu391Val) single nucleotide variant not provided [RCV002010202] Chr17:28400761 [GRCh38]
Chr17:26727778 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.19C>G (p.Pro7Ala) single nucleotide variant not provided [RCV001880290] Chr17:28406096 [GRCh38]
Chr17:26733114 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.341G>T (p.Arg114Leu) single nucleotide variant Congenital defect of folate absorption [RCV002492217]|not provided [RCV001976659] Chr17:28405356 [GRCh38]
Chr17:26732374 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.1165+3G>C single nucleotide variant not provided [RCV001901930] Chr17:28402235 [GRCh38]
Chr17:26729253 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.362C>T (p.Ser121Leu) single nucleotide variant not provided [RCV001876559] Chr17:28405335 [GRCh38]
Chr17:26732353 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.764A>G (p.Tyr255Cys) single nucleotide variant not provided [RCV001915847] Chr17:28404933 [GRCh38]
Chr17:26731951 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.444_445insCTGCTGCTCCAGGCCCTAGTGTCCGTTTTTGTGGTGCAGCTGCAGCTCCACGTCGGCTACTTCGTGC (p.Ile149fs) insertion not provided [RCV001953653] Chr17:28405252..28405253 [GRCh38]
Chr17:26732270..26732271 [GRCh37]
Chr17:17q11.2
pathogenic
NM_080669.6(SLC46A1):c.1261A>G (p.Met421Val) single nucleotide variant not provided [RCV001995924] Chr17:28400671 [GRCh38]
Chr17:26727687 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.44C>T (p.Pro15Leu) single nucleotide variant not provided [RCV002011298] Chr17:28406071 [GRCh38]
Chr17:26733089 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.1214C>T (p.Thr405Met) single nucleotide variant not provided [RCV001978406] Chr17:28400718 [GRCh38]
Chr17:26727735 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.562A>C (p.Ile188Leu) single nucleotide variant not provided [RCV002012922] Chr17:28405135 [GRCh38]
Chr17:26732153 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.272T>C (p.Val91Ala) single nucleotide variant not provided [RCV002049422] Chr17:28405425 [GRCh38]
Chr17:26732443 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.559_589del (p.Ile188fs) deletion not provided [RCV001880385] Chr17:28405108..28405138 [GRCh38]
Chr17:26732126..26732156 [GRCh37]
Chr17:17q11.2
pathogenic
NM_080669.6(SLC46A1):c.1144C>A (p.Leu382Met) single nucleotide variant not provided [RCV002018295] Chr17:28402259 [GRCh38]
Chr17:26729277 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.824del (p.Phe275fs) deletion not provided [RCV001876442] Chr17:28404873 [GRCh38]
Chr17:26731891 [GRCh37]
Chr17:17q11.2
pathogenic
NM_080669.6(SLC46A1):c.433G>A (p.Val145Met) single nucleotide variant not provided [RCV001883447] Chr17:28405264 [GRCh38]
Chr17:26732282 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.118G>A (p.Gly40Ser) single nucleotide variant not provided [RCV001904858] Chr17:28405997 [GRCh38]
Chr17:26733015 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.392C>A (p.Ser131Tyr) single nucleotide variant not provided [RCV002011135] Chr17:28405305 [GRCh38]
Chr17:26732323 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.779C>G (p.Pro260Arg) single nucleotide variant not provided [RCV002028911] Chr17:28404918 [GRCh38]
Chr17:26731936 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.826G>A (p.Val276Met) single nucleotide variant not provided [RCV001880933] Chr17:28404871 [GRCh38]
Chr17:26731889 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.419A>C (p.His140Pro) single nucleotide variant not provided [RCV002030389] Chr17:28405278 [GRCh38]
Chr17:26732296 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.117G>A (p.Gln39=) single nucleotide variant not provided [RCV001980468] Chr17:28405998 [GRCh38]
Chr17:26733016 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.737G>T (p.Arg246Leu) single nucleotide variant not provided [RCV001939097] Chr17:28404960 [GRCh38]
Chr17:26731978 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.610C>T (p.Arg204Trp) single nucleotide variant not provided [RCV001885798] Chr17:28405087 [GRCh38]
Chr17:26732105 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.1350C>T (p.Leu450=) single nucleotide variant not provided [RCV001995588] Chr17:28399686 [GRCh38]
Chr17:26726702 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.1250C>T (p.Thr417Ile) single nucleotide variant not provided [RCV001977806] Chr17:28400682 [GRCh38]
Chr17:26727698 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.18C>T (p.Ser6=) single nucleotide variant not provided [RCV002075906] Chr17:28406097 [GRCh38]
Chr17:26733115 [GRCh37]
Chr17:17q11.2
likely benign
NM_080669.6(SLC46A1):c.1293C>T (p.Gly431=) single nucleotide variant not provided [RCV002204995] Chr17:28400639 [GRCh38]
Chr17:26727655 [GRCh37]
Chr17:17q11.2
likely benign
NM_080669.6(SLC46A1):c.594C>T (p.Leu198=) single nucleotide variant not provided [RCV002191275] Chr17:28405103 [GRCh38]
Chr17:26732121 [GRCh37]
Chr17:17q11.2
likely benign
NM_080669.6(SLC46A1):c.1081+8G>C single nucleotide variant not provided [RCV002166003] Chr17:28404608 [GRCh38]
Chr17:26731626 [GRCh37]
Chr17:17q11.2
likely benign
NM_080669.6(SLC46A1):c.1296C>T (p.Leu432=) single nucleotide variant not provided [RCV002130216] Chr17:28400636 [GRCh38]
Chr17:26727652 [GRCh37]
Chr17:17q11.2
likely benign
NM_080669.6(SLC46A1):c.814C>T (p.Leu272=) single nucleotide variant not provided [RCV002086225] Chr17:28404883 [GRCh38]
Chr17:26731901 [GRCh37]
Chr17:17q11.2
likely benign
NM_080669.6(SLC46A1):c.1012G>A (p.Gly338Ser) single nucleotide variant not provided [RCV002085651] Chr17:28404685 [GRCh38]
Chr17:26731703 [GRCh37]
Chr17:17q11.2
likely benign
NM_080669.6(SLC46A1):c.1065G>A (p.Thr355=) single nucleotide variant not provided [RCV002165618] Chr17:28404632 [GRCh38]
Chr17:26731650 [GRCh37]
Chr17:17q11.2
likely benign
NM_080669.6(SLC46A1):c.210C>T (p.Ser70=) single nucleotide variant not provided [RCV002127970] Chr17:28405905 [GRCh38]
Chr17:26732923 [GRCh37]
Chr17:17q11.2
likely benign
NM_080669.6(SLC46A1):c.969G>A (p.Lys323=) single nucleotide variant not provided [RCV002149347] Chr17:28404728 [GRCh38]
Chr17:26731746 [GRCh37]
Chr17:17q11.2
likely benign
NM_080669.6(SLC46A1):c.693T>G (p.Gly231=) single nucleotide variant not provided [RCV002085266] Chr17:28405004 [GRCh38]
Chr17:26732022 [GRCh37]
Chr17:17q11.2
likely benign
NM_080669.6(SLC46A1):c.492C>T (p.Ser164=) single nucleotide variant not provided [RCV002195274] Chr17:28405205 [GRCh38]
Chr17:26732223 [GRCh37]
Chr17:17q11.2
likely benign
NM_080669.6(SLC46A1):c.1208T>C (p.Met403Thr) single nucleotide variant not provided [RCV002213199] Chr17:28400724 [GRCh38]
Chr17:26727741 [GRCh37]
Chr17:17q11.2
likely benign
NM_080669.6(SLC46A1):c.1323-18C>G single nucleotide variant not provided [RCV002131775] Chr17:28399731 [GRCh38]
Chr17:26726747 [GRCh37]
Chr17:17q11.2
likely benign
NM_080669.6(SLC46A1):c.867C>T (p.Thr289=) single nucleotide variant not provided [RCV002151382] Chr17:28404830 [GRCh38]
Chr17:26731848 [GRCh37]
Chr17:17q11.2
likely benign
NM_080669.6(SLC46A1):c.1281C>T (p.Leu427=) single nucleotide variant not provided [RCV002155625] Chr17:28400651 [GRCh38]
Chr17:26727667 [GRCh37]
Chr17:17q11.2
likely benign
NM_080669.6(SLC46A1):c.1221C>T (p.Ser407=) single nucleotide variant not provided [RCV002217091] Chr17:28400711 [GRCh38]
Chr17:26727728 [GRCh37]
Chr17:17q11.2
likely benign
NM_080669.6(SLC46A1):c.1166-17T>C single nucleotide variant not provided [RCV002121727] Chr17:28400783 [GRCh38]
Chr17:26727800 [GRCh37]
Chr17:17q11.2
likely benign
NM_080669.6(SLC46A1):c.1224C>A (p.Gly408=) single nucleotide variant not provided [RCV002083812] Chr17:28400708 [GRCh38]
Chr17:26727725 [GRCh37]
Chr17:17q11.2
likely benign
NM_080669.6(SLC46A1):c.1122C>T (p.Val374=) single nucleotide variant not provided [RCV002178708] Chr17:28402281 [GRCh38]
Chr17:26729299 [GRCh37]
Chr17:17q11.2
likely benign
NM_080669.6(SLC46A1):c.990C>T (p.Ala330=) single nucleotide variant not provided [RCV002159267] Chr17:28404707 [GRCh38]
Chr17:26731725 [GRCh37]
Chr17:17q11.2
likely benign
NM_080669.6(SLC46A1):c.459C>T (p.Leu153=) single nucleotide variant not provided [RCV002184558] Chr17:28405238 [GRCh38]
Chr17:26732256 [GRCh37]
Chr17:17q11.2
likely benign
NM_080669.6(SLC46A1):c.1322+2_1322+4delinsAT indel not provided [RCV002275522] Chr17:28400606..28400608 [GRCh38]
Chr17:26727622..26727624 [GRCh37]
Chr17:17q11.2
likely pathogenic
NM_080669.6(SLC46A1):c.1334del (p.Lys445fs) deletion not specified [RCV002470144] Chr17:28399702 [GRCh38]
Chr17:26726718 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.961G>A (p.Ala321Thr) single nucleotide variant not provided [RCV002299318] Chr17:28404736 [GRCh38]
Chr17:26731754 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_080669.6(SLC46A1):c.795A>T (p.Lys265Asn) single nucleotide variant not provided [RCV002298065] Chr17:28404902 [GRCh38]
Chr17:26731920 [GRCh37]
Chr17:17q11.2
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7445
Count of miRNA genes:1329
Interacting mature miRNAs:1756
Transcripts:ENST00000321666, ENST00000440501, ENST00000578217, ENST00000581516, ENST00000582345, ENST00000582590, ENST00000582735, ENST00000583295, ENST00000584426, ENST00000584729, ENST00000584995
Prediction methods:Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
SHGC-57890  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371726,727,757 - 26,727,905UniSTSGRCh37
Build 361723,751,884 - 23,752,032RGDNCBI36
Celera1723,589,521 - 23,589,669RGD
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map17q11UniSTS
HuRef1722,936,101 - 22,936,249UniSTS
TNG Radiation Hybrid Map1710794.0UniSTS
SHGC-30073  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371726,725,038 - 26,725,187UniSTSGRCh37
Build 361723,749,165 - 23,749,314RGDNCBI36
Celera1723,586,803 - 23,586,952RGD
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map17q11UniSTS
HuRef1722,933,383 - 22,933,532UniSTS
TNG Radiation Hybrid Map1710794.0UniSTS
Stanford-G3 RH Map171034.0UniSTS
GeneMap99-G3 RH Map171535.0UniSTS
SARM1__5545  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371726,725,967 - 26,726,763UniSTSGRCh37
Build 361723,750,094 - 23,750,890RGDNCBI36
Celera1723,587,732 - 23,588,528RGD
HuRef1722,934,312 - 22,935,108UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 46 72 744 183 26 182 22 7 732 11 106 151 6 14 12 1
Low 2374 2353 973 436 1345 282 4219 2032 2971 398 1340 1451 161 1190 2676 3
Below cutoff 9 556 1 3 538 113 153 4 9 2 4 3 100

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_013306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001242366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_080669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005277786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC002094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC015917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK054669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ834412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA013269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA188147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA436636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA527125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB121588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ496103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000578217
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1728,404,240 - 28,405,747 (-)Ensembl
RefSeq Acc Id: ENST00000581516   ⟹   ENSP00000462942
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1728,405,377 - 28,407,197 (-)Ensembl
RefSeq Acc Id: ENST00000582590
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1728,404,316 - 28,406,168 (-)Ensembl
RefSeq Acc Id: ENST00000582735   ⟹   ENSP00000463339
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1728,399,346 - 28,404,821 (-)Ensembl
RefSeq Acc Id: ENST00000584426   ⟹   ENSP00000467416
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1728,405,048 - 28,406,599 (-)Ensembl
RefSeq Acc Id: ENST00000584995   ⟹   ENSP00000464190
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1728,404,724 - 28,406,630 (-)Ensembl
RefSeq Acc Id: ENST00000612814   ⟹   ENSP00000480703
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1728,394,642 - 28,406,212 (-)Ensembl
RefSeq Acc Id: ENST00000618626   ⟹   ENSP00000483652
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1728,395,676 - 28,406,201 (-)Ensembl
RefSeq Acc Id: ENST00000619923
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1728,400,518 - 28,401,045 (-)Ensembl
RefSeq Acc Id: NM_001242366   ⟹   NP_001229295
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381728,394,642 - 28,406,212 (-)NCBI
GRCh371726,721,661 - 26,733,230 (-)ENTREZGENE
HuRef1722,930,003 - 22,941,574 (-)ENTREZGENE
CHM1_11726,784,574 - 26,796,145 (-)NCBI
T2T-CHM13v2.01729,336,494 - 29,348,065 (-)NCBI
Sequence:
RefSeq Acc Id: NM_080669   ⟹   NP_542400
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381728,394,642 - 28,406,212 (-)NCBI
GRCh371726,721,661 - 26,733,230 (-)ENTREZGENE
Build 361723,745,788 - 23,757,355 (-)NCBI Archive
HuRef1722,930,003 - 22,941,574 (-)ENTREZGENE
CHM1_11726,784,574 - 26,796,145 (-)NCBI
T2T-CHM13v2.01729,336,494 - 29,348,065 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005277786   ⟹   XP_005277843
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381728,394,642 - 28,406,212 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017024110   ⟹   XP_016879599
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381728,394,642 - 28,406,592 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047435279   ⟹   XP_047291235
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381728,394,642 - 28,406,592 (-)NCBI
RefSeq Acc Id: XM_047435280   ⟹   XP_047291236
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381728,394,642 - 28,406,592 (-)NCBI
Reference Sequences
RefSeq Acc Id: NP_001229295   ⟸   NM_001242366
- Peptide Label: isoform 2
- UniProtKB: Q96NT5 (UniProtKB/Swiss-Prot),   A0A024QZ44 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_542400   ⟸   NM_080669
- Peptide Label: isoform 1
- UniProtKB: Q96FL0 (UniProtKB/Swiss-Prot),   Q96NT5 (UniProtKB/Swiss-Prot),   A0A024QZ15 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005277843   ⟸   XM_005277786
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016879599   ⟸   XM_017024110
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000462942   ⟸   ENST00000581516
RefSeq Acc Id: ENSP00000463339   ⟸   ENST00000582735
RefSeq Acc Id: ENSP00000467416   ⟸   ENST00000584426
RefSeq Acc Id: ENSP00000464190   ⟸   ENST00000584995
RefSeq Acc Id: ENSP00000480703   ⟸   ENST00000612814
RefSeq Acc Id: ENSP00000483652   ⟸   ENST00000618626
RefSeq Acc Id: XP_047291236   ⟸   XM_047435280
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047291235   ⟸   XM_047435279
- Peptide Label: isoform X3
Protein Domains
MFS

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96NT5-F1-model_v2 AlphaFold Q96NT5 1-459 view protein structure

Promoters
RGD ID:6794574
Promoter ID:HG_KWN:25548
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ENST00000262401,   ENST00000321666,   NM_080669,   UC002HBF.1,   UC002HBG.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361723,756,871 - 23,757,371 (-)MPROMDB
RGD ID:7234355
Promoter ID:EPDNEW_H22923
Type:initiation region
Name:SLC46A1_1
Description:solute carrier family 46 member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381728,406,212 - 28,406,272EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30521 AgrOrtholog
COSMIC SLC46A1 COSMIC
Ensembl Genes ENSG00000076351 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000462942.1 UniProtKB/TrEMBL
  ENSP00000463339.1 UniProtKB/TrEMBL
  ENSP00000464190.1 UniProtKB/TrEMBL
  ENSP00000467416.1 UniProtKB/TrEMBL
  ENSP00000480703 ENTREZGENE
  ENSP00000480703.1 UniProtKB/Swiss-Prot
  ENSP00000483652 ENTREZGENE
  ENSP00000483652.1 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000581516.1 UniProtKB/TrEMBL
  ENST00000582735.1 UniProtKB/TrEMBL
  ENST00000584426.1 UniProtKB/TrEMBL
  ENST00000584995.5 UniProtKB/TrEMBL
  ENST00000612814 ENTREZGENE
  ENST00000612814.5 UniProtKB/Swiss-Prot
  ENST00000618626 ENTREZGENE
  ENST00000618626.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.1250.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000076351 GTEx
HGNC ID HGNC:30521 ENTREZGENE
Human Proteome Map SLC46A1 Human Proteome Map
InterPro MFS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MFS_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MFS_trans_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sugar_transporter_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:113235 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 113235 ENTREZGENE
OMIM 229050 OMIM
  611672 OMIM
Pfam MFS_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162403775 PharmGKB
PROSITE MFS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SUGAR_TRANSPORT_1 UniProtKB/TrEMBL
Superfamily-SCOP SSF103473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024QZ15 ENTREZGENE, UniProtKB/TrEMBL
  A0A024QZ44 ENTREZGENE, UniProtKB/TrEMBL
  J3KTE6_HUMAN UniProtKB/TrEMBL
  J3QL21_HUMAN UniProtKB/TrEMBL
  J3QRF7_HUMAN UniProtKB/TrEMBL
  K7EPJ7_HUMAN UniProtKB/TrEMBL
  PCFT_HUMAN UniProtKB/Swiss-Prot
  Q96FL0 ENTREZGENE
  Q96NT5 ENTREZGENE
UniProt Secondary Q1HE20 UniProtKB/Swiss-Prot
  Q86T92 UniProtKB/Swiss-Prot
  Q8TEG3 UniProtKB/Swiss-Prot
  Q96FL0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-08 SLC46A1  solute carrier family 46 member 1    solute carrier family 46 (folate transporter), member 1  Symbol and/or name change 5135510 APPROVED