SLC52A2 (solute carrier family 52 member 2) - Rat Genome Database

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Gene: SLC52A2 (solute carrier family 52 member 2) Homo sapiens
Analyze
Symbol: SLC52A2
Name: solute carrier family 52 member 2
RGD ID: 1349767
HGNC Page HGNC
Description: Exhibits 4-hydroxybutyrate receptor activity and riboflavin transmembrane transporter activity. Involved in riboflavin transport. Localizes to integral component of plasma membrane. Implicated in Brown-Vialetto-Van Laere syndrome 2.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BVVLS2; D15Ertd747e; G protein-coupled receptor 172A; GPCR; GPCR41; GPR172A; hRFT3; PAR1; PERV-A receptor 1; porcine endogenous retrovirus A receptor 1; putative G-protein coupled receptor GPCR41; RFT3; RFVT2; riboflavin transporter 3; solute carrier family 52 (riboflavin transporter), member 2; solute carrier family 52, riboflavin transporter, member 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8144,354,135 - 144,361,272 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl8144,333,957 - 144,361,286 (+)EnsemblGRCh38hg38GRCh38
GRCh388144,358,547 - 144,361,272 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378145,582,212 - 145,584,932 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,553,033 - 145,555,753 (+)NCBINCBI36hg18NCBI36
Build 348145,553,032 - 145,555,754NCBI
Celera8141,757,606 - 141,760,327 (+)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,696,155 - 140,698,884 (+)NCBIHuRef
CHM1_18145,620,638 - 145,623,367 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:12044878   PMID:12740431   PMID:14702039   PMID:15146197   PMID:15489334   PMID:16344560   PMID:17197387   PMID:20301317   PMID:20463145   PMID:21873635   PMID:23506902   PMID:24139842  
PMID:24253200   PMID:24561123   PMID:24616084   PMID:25416956   PMID:26072523   PMID:26669662   PMID:26791833   PMID:26918385   PMID:27702554   PMID:28298427   PMID:28514442   PMID:29053833  
PMID:29117863   PMID:29193829   PMID:29287867   PMID:29715086   PMID:30793323   PMID:32296183   PMID:32694731  


Genomics

Comparative Map Data
SLC52A2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8144,354,135 - 144,361,272 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl8144,333,957 - 144,361,286 (+)EnsemblGRCh38hg38GRCh38
GRCh388144,358,547 - 144,361,272 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378145,582,212 - 145,584,932 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,553,033 - 145,555,753 (+)NCBINCBI36hg18NCBI36
Build 348145,553,032 - 145,555,754NCBI
Celera8141,757,606 - 141,760,327 (+)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,696,155 - 140,698,884 (+)NCBIHuRef
CHM1_18145,620,638 - 145,623,367 (+)NCBICHM1_1
Slc52a2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391576,422,994 - 76,432,078 (+)NCBIGRCm39mm39
GRCm39 Ensembl1576,423,032 - 76,428,808 (+)Ensembl
GRCm381576,538,814 - 76,547,878 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1576,538,832 - 76,544,608 (+)EnsemblGRCm38mm10GRCm38
MGSCv371576,369,373 - 76,372,560 (+)NCBIGRCm37mm9NCBIm37
MGSCv361576,366,198 - 76,369,385 (+)NCBImm8
Celera1578,039,389 - 78,042,576 (+)NCBICelera
Cytogenetic Map15D3NCBI
cM Map1536.04NCBI
Slc52a2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27108,246,003 - 108,267,642 (+)NCBI
Rnor_6.0 Ensembl7117,605,050 - 117,608,460 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07117,605,038 - 117,608,460 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07117,575,356 - 117,596,091 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47114,590,752 - 114,594,162 (+)NCBIRGSC3.4rn4RGSC3.4
Celera7104,613,931 - 104,617,341 (+)NCBICelera
Cytogenetic Map7q34NCBI
Slc52a2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554542,979,889 - 2,982,203 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554542,944,169 - 2,982,203 (+)NCBIChiLan1.0ChiLan1.0
SLC52A2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18144,111,766 - 144,114,392 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8144,112,498 - 144,114,319 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08141,122,292 - 141,124,985 (+)NCBIMhudiblu_PPA_v0panPan3
SLC52A2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11337,779,896 - 37,786,653 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1337,783,562 - 37,786,621 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1337,742,477 - 37,749,280 (+)NCBI
ROS_Cfam_1.01338,255,411 - 38,262,214 (+)NCBI
UMICH_Zoey_3.11337,947,241 - 37,954,043 (+)NCBI
UNSW_CanFamBas_1.01338,055,893 - 38,062,696 (+)NCBI
UU_Cfam_GSD_1.01338,532,243 - 38,539,046 (+)NCBI
Slc52a2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303460,080 - 462,494 (-)NCBI
SpeTri2.0NW_0049364707,886,169 - 7,888,592 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC52A2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.14421,457 - 429,360 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24509,904 - 517,521 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SLC52A2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18138,570,451 - 138,573,072 (+)NCBI
ChlSab1.1 Ensembl8138,571,081 - 138,573,079 (+)Ensembl
Vero_WHO_p1.0NW_0236660391,287,635 - 1,290,261 (-)NCBI
Slc52a2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473512,465,032 - 12,491,809 (-)NCBI

Position Markers
PMC164520P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,582,875 - 145,583,855UniSTSGRCh37
Build 368145,553,683 - 145,554,663RGDNCBI36
Celera8141,758,256 - 141,759,236RGD
Cytogenetic Map8q24.3UniSTS
HuRef8140,696,813 - 140,697,793UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5261
Count of miRNA genes:951
Interacting mature miRNAs:1159
Transcripts:ENST00000329994, ENST00000402965, ENST00000524541, ENST00000526338, ENST00000526752, ENST00000526779, ENST00000526891, ENST00000527078, ENST00000530047, ENST00000532815, ENST00000532887, ENST00000533662, ENST00000534725, ENST00000540505
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1
Medium 2427 1956 1427 333 1372 175 3715 1258 2924 364 1443 1603 170 1203 2150 5 2
Low 12 1035 299 291 578 290 642 939 810 55 16 10 5 1 1 638
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001253815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001253816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_045600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB083623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB522904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC233992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF205589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK021918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL560856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU119853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX301148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX878806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX881043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY070774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF984649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ772207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ888729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU603018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX462918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA306391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN260061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA289629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC365525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000329994   ⟹   ENSP00000333638
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,358,593 - 144,361,272 (+)Ensembl
RefSeq Acc Id: ENST00000402965   ⟹   ENSP00000385961
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,358,581 - 144,361,270 (+)Ensembl
RefSeq Acc Id: ENST00000524541   ⟹   ENSP00000434239
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,354,135 - 144,359,700 (+)Ensembl
RefSeq Acc Id: ENST00000526338   ⟹   ENSP00000433583
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,358,577 - 144,360,605 (+)Ensembl
RefSeq Acc Id: ENST00000526752   ⟹   ENSP00000433796
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,358,596 - 144,361,271 (+)Ensembl
RefSeq Acc Id: ENST00000526779   ⟹   ENSP00000436917
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,359,012 - 144,360,684 (+)Ensembl
RefSeq Acc Id: ENST00000526891
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,358,990 - 144,360,001 (+)Ensembl
RefSeq Acc Id: ENST00000527078   ⟹   ENSP00000434728
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,358,565 - 144,361,021 (+)Ensembl
RefSeq Acc Id: ENST00000530047   ⟹   ENSP00000435820
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,358,557 - 144,361,270 (+)Ensembl
RefSeq Acc Id: ENST00000532815
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,354,644 - 144,359,297 (+)Ensembl
RefSeq Acc Id: ENST00000533662
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,358,595 - 144,359,899 (+)Ensembl
RefSeq Acc Id: ENST00000534725   ⟹   ENSP00000431965
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,358,593 - 144,360,009 (+)Ensembl
RefSeq Acc Id: ENST00000643944   ⟹   ENSP00000496184
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,358,613 - 144,361,272 (+)Ensembl
RefSeq Acc Id: ENST00000644270
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,354,653 - 144,357,454 (+)Ensembl
RefSeq Acc Id: ENST00000674779   ⟹   ENSP00000501929
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,359,188 - 144,361,255 (+)Ensembl
RefSeq Acc Id: ENST00000674821   ⟹   ENSP00000502219
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,359,188 - 144,361,272 (+)Ensembl
RefSeq Acc Id: ENST00000674870   ⟹   ENSP00000502406
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,358,570 - 144,361,272 (+)Ensembl
RefSeq Acc Id: ENST00000674929   ⟹   ENSP00000501554
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,358,604 - 144,361,105 (+)Ensembl
RefSeq Acc Id: ENST00000675121   ⟹   ENSP00000501993
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,358,624 - 144,361,272 (+)Ensembl
RefSeq Acc Id: ENST00000675280   ⟹   ENSP00000502796
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,358,723 - 144,361,272 (+)Ensembl
RefSeq Acc Id: ENST00000675292   ⟹   ENSP00000502652
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,354,990 - 144,361,272 (+)Ensembl
RefSeq Acc Id: ENST00000675597   ⟹   ENSP00000501973
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,358,606 - 144,361,272 (+)Ensembl
RefSeq Acc Id: ENST00000675787   ⟹   ENSP00000502189
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,359,188 - 144,361,272 (+)Ensembl
RefSeq Acc Id: ENST00000675888   ⟹   ENSP00000502294
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,333,957 - 144,361,252 (+)Ensembl
RefSeq Acc Id: ENST00000675998
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,359,941 - 144,361,272 (+)Ensembl
RefSeq Acc Id: ENST00000676094   ⟹   ENSP00000502066
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,359,188 - 144,361,272 (+)Ensembl
RefSeq Acc Id: ENST00000676358   ⟹   ENSP00000501821
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,358,628 - 144,361,276 (+)Ensembl
RefSeq Acc Id: NM_001253815   ⟹   NP_001240744
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,358,613 - 144,361,272 (+)NCBI
GRCh378145,582,217 - 145,584,946 (+)NCBI
HuRef8140,696,155 - 140,698,884 (+)NCBI
CHM1_18145,620,662 - 145,623,367 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001253816   ⟹   NP_001240745
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,358,552 - 144,361,272 (+)NCBI
GRCh378145,582,217 - 145,584,946 (+)NCBI
HuRef8140,696,155 - 140,698,884 (+)NCBI
CHM1_18145,620,638 - 145,623,367 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001363118   ⟹   NP_001350047
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,358,613 - 144,361,272 (+)NCBI
RefSeq Acc Id: NM_001363120   ⟹   NP_001350049
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,358,613 - 144,361,272 (+)NCBI
RefSeq Acc Id: NM_001363121   ⟹   NP_001350050
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,358,613 - 144,361,272 (+)NCBI
RefSeq Acc Id: NM_001363122   ⟹   NP_001350051
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,358,613 - 144,361,272 (+)NCBI
RefSeq Acc Id: NM_024531   ⟹   NP_078807
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,358,613 - 144,361,272 (+)NCBI
GRCh378145,582,217 - 145,584,946 (+)NCBI
Build 368145,553,033 - 145,555,753 (+)NCBI Archive
Celera8141,757,606 - 141,760,327 (+)RGD
HuRef8140,696,155 - 140,698,884 (+)NCBI
CHM1_18145,620,697 - 145,623,367 (+)NCBI
Sequence:
RefSeq Acc Id: NR_045600
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,358,613 - 144,361,272 (+)NCBI
GRCh378145,582,217 - 145,584,946 (+)NCBI
HuRef8140,696,155 - 140,698,884 (+)NCBI
CHM1_18145,620,662 - 145,623,367 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517300   ⟹   XP_011515602
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,359,437 - 144,361,272 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013821   ⟹   XP_016869310
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,358,581 - 144,361,272 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013822   ⟹   XP_016869311
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,358,547 - 144,361,272 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_078807   ⟸   NM_024531
- Peptide Label: isoform 1
- UniProtKB: Q9HAB3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001240745   ⟸   NM_001253816
- Peptide Label: isoform 1
- UniProtKB: Q9HAB3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001240744   ⟸   NM_001253815
- Peptide Label: isoform 1
- UniProtKB: Q9HAB3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011515602   ⟸   XM_011517300
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016869311   ⟸   XM_017013822
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016869310   ⟸   XM_017013821
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: NP_001350047   ⟸   NM_001363118
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001350050   ⟸   NM_001363121
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001350049   ⟸   NM_001363120
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001350051   ⟸   NM_001363122
- Peptide Label: isoform 2
RefSeq Acc Id: ENSP00000435820   ⟸   ENST00000530047
RefSeq Acc Id: ENSP00000385961   ⟸   ENST00000402965
RefSeq Acc Id: ENSP00000431965   ⟸   ENST00000534725
RefSeq Acc Id: ENSP00000434239   ⟸   ENST00000524541
RefSeq Acc Id: ENSP00000496184   ⟸   ENST00000643944
RefSeq Acc Id: ENSP00000333638   ⟸   ENST00000329994
RefSeq Acc Id: ENSP00000433583   ⟸   ENST00000526338
RefSeq Acc Id: ENSP00000436917   ⟸   ENST00000526779
RefSeq Acc Id: ENSP00000433796   ⟸   ENST00000526752
RefSeq Acc Id: ENSP00000434728   ⟸   ENST00000527078
RefSeq Acc Id: ENSP00000501554   ⟸   ENST00000674929
RefSeq Acc Id: ENSP00000502406   ⟸   ENST00000674870
RefSeq Acc Id: ENSP00000502219   ⟸   ENST00000674821
RefSeq Acc Id: ENSP00000501929   ⟸   ENST00000674779
RefSeq Acc Id: ENSP00000502189   ⟸   ENST00000675787
RefSeq Acc Id: ENSP00000501973   ⟸   ENST00000675597
RefSeq Acc Id: ENSP00000502294   ⟸   ENST00000675888
RefSeq Acc Id: ENSP00000502796   ⟸   ENST00000675280
RefSeq Acc Id: ENSP00000502652   ⟸   ENST00000675292
RefSeq Acc Id: ENSP00000501993   ⟸   ENST00000675121
RefSeq Acc Id: ENSP00000502066   ⟸   ENST00000676094
RefSeq Acc Id: ENSP00000501821   ⟸   ENST00000676358

Promoters
RGD ID:7214459
Promoter ID:EPDNEW_H12976
Type:initiation region
Name:SLC52A2_1
Description:solute carrier family 52 member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12977  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,358,613 - 144,358,673EPDNEW
RGD ID:7214461
Promoter ID:EPDNEW_H12977
Type:initiation region
Name:SLC52A2_2
Description:solute carrier family 52 member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12976  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,359,045 - 144,359,105EPDNEW
RGD ID:6806804
Promoter ID:HG_KWN:62334
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_012162,   NM_024531,   NM_024555,   UC003ZBZ.1,   UC003ZCC.1,   UC003ZCE.1,   UC003ZCF.1,   UC010MFY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,551,801 - 145,553,237 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001363118.2(SLC52A2):c.363G>C (p.Leu121=) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000531057] Chr8:144359855 [GRCh38]
Chr8:145583515 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.415C>T (p.Leu139=) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000545947] Chr8:144359907 [GRCh38]
Chr8:145583567 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.368T>C (p.Leu123Pro) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000032776] Chr8:144359860 [GRCh38]
Chr8:145583520 [GRCh37]
Chr8:8q24.3
pathogenic
NM_001363118.2(SLC52A2):c.1016T>C (p.Leu339Pro) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000032777]|Inborn genetic diseases [RCV000624303]|not provided [RCV000236444] Chr8:144360604 [GRCh38]
Chr8:145584264 [GRCh37]
Chr8:8q24.3
pathogenic
NM_001363118.2(SLC52A2):c.916G>A (p.Gly306Arg) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000029145]|not provided [RCV000235263] Chr8:144360408 [GRCh38]
Chr8:145584068 [GRCh37]
Chr8:8q24.3
pathogenic
NM_001363118.2(SLC52A2):c.155C>T (p.Ser52Phe) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000033238]|not provided [RCV000236548] Chr8:144359647 [GRCh38]
Chr8:145583307 [GRCh37]
Chr8:8q24.3
pathogenic|likely pathogenic
NM_001363118.2(SLC52A2):c.1255G>A (p.Gly419Ser) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000033239] Chr8:144360932 [GRCh38]
Chr8:145584592 [GRCh37]
Chr8:8q24.3
pathogenic
NM_001363118.2(SLC52A2):c.669T>C (p.Ser223=) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000525921] Chr8:144360161 [GRCh38]
Chr8:145583821 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.1039G>A (p.Val347Met) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000553303] Chr8:144360627 [GRCh38]
Chr8:145584287 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.126A>C (p.Pro42=) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000552375] Chr8:144359419 [GRCh38]
Chr8:145583079 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.851C>A (p.Ala284Asp) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000082864] Chr8:144360343 [GRCh38]
Chr8:145584003 [GRCh37]
Chr8:8q24.3
pathogenic
NM_001363118.2(SLC52A2):c.914A>G (p.Tyr305Cys) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000082865] Chr8:144360406 [GRCh38]
Chr8:145584066 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144002671-144796947)x3 copy number gain See cases [RCV000050640] Chr8:144002671..144796947 [GRCh38]
Chr8:145076839..146022332 [GRCh37]
Chr8:145148827..145993136 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144287919-144723120)x3 copy number gain See cases [RCV000052187] Chr8:144287919..144723120 [GRCh38]
Chr8:145511620..145948505 [GRCh37]
Chr8:145482428..145919314 [NCBI36]
Chr8:8q24.3
uncertain significance
GRCh38/hg38 8q24.3(chr8:144002671-145054634)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|See cases [RCV000053702] Chr8:144002671..145054634 [GRCh38]
Chr8:145076839..146280020 [GRCh37]
Chr8:145148827..146250824 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144002471-145054775)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|See cases [RCV000054311] Chr8:144002471..145054775 [GRCh38]
Chr8:145076639..146280161 [GRCh37]
Chr8:145148627..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144264907-144668170)x1 copy number loss See cases [RCV000134352] Chr8:144264907..144668170 [GRCh38]
Chr8:145319810..145893555 [GRCh37]
Chr8:145391798..145864363 [NCBI36]
Chr8:8q24.3
benign
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144340449-144585787)x3 copy number gain See cases [RCV000140255] Chr8:144340449..144585787 [GRCh38]
Chr8:145564111..145811171 [GRCh37]
Chr8:145534919..145781979 [NCBI36]
Chr8:8q24.3
likely benign
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
NM_001363118.2(SLC52A2):c.808C>T (p.Gln270Ter) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000167765]|not provided [RCV000235507] Chr8:144360300 [GRCh38]
Chr8:145583960 [GRCh37]
Chr8:8q24.3
pathogenic
NM_001363118.2(SLC52A2):c.505C>T (p.Arg169Cys) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000193941] Chr8:144359997 [GRCh38]
Chr8:145583657 [GRCh37]
Chr8:8q24.3
likely pathogenic|conflicting interpretations of pathogenicity
NM_001363118.2(SLC52A2):c.92G>C (p.Trp31Ser) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000191982] Chr8:144359385 [GRCh38]
Chr8:145583045 [GRCh37]
Chr8:8q24.3
pathogenic
NM_001363118.2(SLC52A2):c.383C>T (p.Ser128Leu) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000191983]|Inborn genetic diseases [RCV001266471] Chr8:144359875 [GRCh38]
Chr8:145583535 [GRCh37]
Chr8:8q24.3
pathogenic|conflicting interpretations of pathogenicity
NM_001363118.2(SLC52A2):c.700C>T (p.Gln234Ter) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000191984] Chr8:144360192 [GRCh38]
Chr8:145583852 [GRCh37]
Chr8:8q24.3
pathogenic
NM_001363118.2(SLC52A2):c.865C>T (p.Leu289=) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000191985] Chr8:144360357 [GRCh38]
Chr8:145584017 [GRCh37]
Chr8:8q24.3
pathogenic
NM_001363118.2(SLC52A2):c.935T>C (p.Leu312Pro) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000191986]|Inborn genetic diseases [RCV000623325]|not provided [RCV000224069] Chr8:144360427 [GRCh38]
Chr8:145584087 [GRCh37]
Chr8:8q24.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001363118.2(SLC52A2):c.1088C>T (p.Pro363Leu) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000191987] Chr8:144360676 [GRCh38]
Chr8:145584336 [GRCh37]
Chr8:8q24.3
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001363118.2(SLC52A2):c.1258G>A (p.Ala420Thr) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000191988]|not provided [RCV000237019] Chr8:144360935 [GRCh38]
Chr8:145584595 [GRCh37]
Chr8:8q24.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001363118.2(SLC52A2):c.551del (p.Pro184fs) deletion Brown-Vialetto-Van Laere syndrome 2 [RCV000545032] Chr8:144360038 [GRCh38]
Chr8:145583698 [GRCh37]
Chr8:8q24.3
pathogenic
NM_001363118.2(SLC52A2):c.245G>C (p.Arg82Pro) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001044850]|not provided [RCV000235265] Chr8:144359737 [GRCh38]
Chr8:145583397 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.736G>C (p.Glu246Gln) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001349705]|not provided [RCV000235431] Chr8:144360228 [GRCh38]
Chr8:145583888 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.917G>A (p.Gly306Glu) single nucleotide variant not provided [RCV000236297] Chr8:144360409 [GRCh38]
Chr8:145584069 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_001363118.2(SLC52A2):c.376T>G (p.Cys126Gly) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001233090]|not provided [RCV000236546] Chr8:144359868 [GRCh38]
Chr8:145583528 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.1140del (p.Leu381fs) deletion Brown-Vialetto-Van Laere syndrome 2 [RCV001318413]|not provided [RCV000236591] Chr8:144360817 [GRCh38]
Chr8:145584477 [GRCh37]
Chr8:8q24.3
likely pathogenic|uncertain significance
NM_001363118.2(SLC52A2):c.107T>G (p.Val36Gly) single nucleotide variant not provided [RCV000237012] Chr8:144359400 [GRCh38]
Chr8:145583060 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_001363118.2(SLC52A2):c.806A>G (p.Tyr269Cys) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000692859]|not provided [RCV000237020] Chr8:144360298 [GRCh38]
Chr8:145583958 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.*19C>T single nucleotide variant not specified [RCV000251062] Chr8:144361034 [GRCh38]
Chr8:145584694 [GRCh37]
Chr8:8q24.3
benign
NM_001363118.2(SLC52A2):c.555C>T (p.Leu185=) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001080513]|not provided [RCV000677061]|not specified [RCV000242474] Chr8:144360047 [GRCh38]
Chr8:145583707 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145033244-146297937)x3 copy number gain not provided [RCV001270667] Chr8:145033244..146297937 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.402CTT[1] (p.Phe135del) microsatellite Brown-Vialetto-Van Laere syndrome 2 [RCV001269384] Chr8:144359894..144359896 [GRCh38]
Chr8:145583554..145583556 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
NM_001363118.2(SLC52A2):c.-110-7T>G single nucleotide variant not provided [RCV000578566] Chr8:144359177 [GRCh38]
Chr8:145582837 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.227_247del (p.Asp76_Arg82del) deletion not provided [RCV000598711] Chr8:144359717..144359737 [GRCh38]
Chr8:145583377..145583397 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_001363118.2(SLC52A2):c.144C>G (p.Pro48=) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000531944] Chr8:144359636 [GRCh38]
Chr8:145583296 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.1152C>T (p.Gly384=) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000690799]|not specified [RCV000603457] Chr8:144360829 [GRCh38]
Chr8:145584489 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_001363118.2(SLC52A2):c.353C>A (p.Ala118Asp) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000988128]|not specified [RCV000414334] Chr8:144359845 [GRCh38]
Chr8:145583505 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001363118.2(SLC52A2):c.63G>T (p.Met21Ile) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000537155] Chr8:144359356 [GRCh38]
Chr8:145583016 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.1276C>T (p.Pro426Ser) single nucleotide variant not specified [RCV000413069] Chr8:144360953 [GRCh38]
Chr8:145584613 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_001363118.2(SLC52A2):c.84T>C (p.Asn28=) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000525013]|not specified [RCV000434542] Chr8:144359377 [GRCh38]
Chr8:145583037 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.643C>T (p.Leu215=) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000547482]|not specified [RCV000437879] Chr8:144360135 [GRCh38]
Chr8:145583795 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_001363118.2(SLC52A2):c.1089G>A (p.Pro363=) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001081039]|not provided [RCV000677062]|not specified [RCV000434690] Chr8:144360677 [GRCh38]
Chr8:145584337 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_001363118.2(SLC52A2):c.1001+20C>T single nucleotide variant not specified [RCV000435066] Chr8:144360513 [GRCh38]
Chr8:145584173 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.178C>T (p.Leu60=) single nucleotide variant not specified [RCV000419026] Chr8:144359670 [GRCh38]
Chr8:145583330 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.1245C>T (p.Gly415=) single nucleotide variant not specified [RCV000435676] Chr8:144360922 [GRCh38]
Chr8:145584582 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.-110-5T>C single nucleotide variant not specified [RCV000425521] Chr8:144359179 [GRCh38]
Chr8:145582839 [GRCh37]
Chr8:8q24.3
benign
NM_001363118.2(SLC52A2):c.1122C>T (p.Leu374=) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000542021]|not provided [RCV001280774]|not specified [RCV000432402] Chr8:144360710 [GRCh38]
Chr8:145584370 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_001363118.2(SLC52A2):c.359T>C (p.Val120Ala) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000650475]|not specified [RCV000425838] Chr8:144359851 [GRCh38]
Chr8:145583511 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_001363118.2(SLC52A2):c.1001+17A>T single nucleotide variant not specified [RCV000433070] Chr8:144360510 [GRCh38]
Chr8:145584170 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.835C>T (p.Leu279=) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000551123]|not specified [RCV000443798] Chr8:144360327 [GRCh38]
Chr8:145583987 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.-44C>T single nucleotide variant not specified [RCV000440756] Chr8:144359250 [GRCh38]
Chr8:145582910 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.1113G>A (p.Gly371=) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000650471]|not specified [RCV000420235] Chr8:144360701 [GRCh38]
Chr8:145584361 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.228C>T (p.Asp76=) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000546861]|not specified [RCV000420266] Chr8:144359720 [GRCh38]
Chr8:145583380 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.915C>T (p.Tyr305=) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000960334]|not specified [RCV000423164] Chr8:144360407 [GRCh38]
Chr8:145584067 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.1228G>C (p.Val410Leu) single nucleotide variant not provided [RCV000430679] Chr8:144360905 [GRCh38]
Chr8:145584565 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
NM_001363118.2(SLC52A2):c.135G>T (p.Trp45Cys) single nucleotide variant not provided [RCV000483042] Chr8:144359627 [GRCh38]
Chr8:145583287 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_001363118.2(SLC52A2):c.149dup (p.Tyr50Ter) duplication Brown-Vialetto-Van Laere syndrome 2 [RCV001061713]|not provided [RCV000484963] Chr8:144359640..144359641 [GRCh38]
Chr8:145583300..145583301 [GRCh37]
Chr8:8q24.3
pathogenic
NM_001363118.2(SLC52A2):c.-106_-104AAG[1] microsatellite not specified [RCV000486315] Chr8:144359186..144359188 [GRCh38]
Chr8:145582846..145582848 [GRCh37]
Chr8:8q24.3
likely benign
GRCh37/hg19 8q24.3(chr8:144779442-146113113)x3 copy number gain See cases [RCV000510396] Chr8:144779442..146113113 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_001363118.2(SLC52A2):c.1087C>G (p.Pro363Ala) single nucleotide variant not provided [RCV000493056] Chr8:144360675 [GRCh38]
Chr8:145584335 [GRCh37]
Chr8:8q24.3
likely pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3
likely pathogenic
NM_001363118.2(SLC52A2):c.116_130+83del deletion Brown-Vialetto-Van Laere syndrome 2 [RCV000698543] Chr8:144359377..144359474 [GRCh38]
Chr8:145583037..145583134 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
NM_001253815.1(SLC52A2):c.185T>G (p.Leu62Arg) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000617015] Chr8:144359677 [GRCh38]
Chr8:145583337 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_001363118.2(SLC52A2):c.1259C>T (p.Ala420Val) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000617019] Chr8:144360936 [GRCh38]
Chr8:145584596 [GRCh37]
Chr8:8q24.3
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001363118.2(SLC52A2):c.36C>T (p.Thr12=) single nucleotide variant not provided [RCV000975500]|not specified [RCV000601585] Chr8:144359329 [GRCh38]
Chr8:145582989 [GRCh37]
Chr8:8q24.3
likely benign
GRCh37/hg19 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3
pathogenic
NM_001363118.2(SLC52A2):c.535G>A (p.Gly179Ser) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000534691] Chr8:144360027 [GRCh38]
Chr8:145583687 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.627T>C (p.Ala209=) single nucleotide variant not provided [RCV000877035]|not specified [RCV000612417] Chr8:144360119 [GRCh38]
Chr8:145583779 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.888C>T (p.Ala296=) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000650472]|not specified [RCV000609904] Chr8:144360380 [GRCh38]
Chr8:145584040 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.926C>T (p.Ala309Val) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000555871] Chr8:144360418 [GRCh38]
Chr8:145584078 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.487C>T (p.Leu163=) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000560769] Chr8:144359979 [GRCh38]
Chr8:145583639 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.1209G>A (p.Pro403=) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000650469]|not specified [RCV000610714] Chr8:144360886 [GRCh38]
Chr8:145584546 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.425G>A (p.Arg142His) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000650457] Chr8:144359917 [GRCh38]
Chr8:145583577 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.339_341CTT[1] (p.Phe114del) microsatellite Brown-Vialetto-Van Laere syndrome 2 [RCV000650459] Chr8:144359831..144359833 [GRCh38]
Chr8:145583491..145583493 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.1267A>G (p.Met423Val) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000650460] Chr8:144360944 [GRCh38]
Chr8:145584604 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.863C>T (p.Ala288Val) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000650461] Chr8:144360355 [GRCh38]
Chr8:145584015 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.1118T>G (p.Val373Gly) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000650462] Chr8:144360706 [GRCh38]
Chr8:145584366 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.824G>T (p.Arg275Leu) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000650463] Chr8:144360316 [GRCh38]
Chr8:145583976 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.1106C>T (p.Ser369Leu) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000650464] Chr8:144360694 [GRCh38]
Chr8:145584354 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.1228G>A (p.Val410Met) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000650465] Chr8:144360905 [GRCh38]
Chr8:145584565 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.1277C>T (p.Pro426Leu) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000650466] Chr8:144360954 [GRCh38]
Chr8:145584614 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.1178C>T (p.Ala393Val) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000650467] Chr8:144360855 [GRCh38]
Chr8:145584515 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.319G>A (p.Gly107Arg) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000650468] Chr8:144359811 [GRCh38]
Chr8:145583471 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.606C>T (p.Ala202=) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000650473] Chr8:144360098 [GRCh38]
Chr8:145583758 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.478G>A (p.Val160Met) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000650458] Chr8:144359970 [GRCh38]
Chr8:145583630 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.1001+6C>T single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001085176]|not provided [RCV000650470] Chr8:144360499 [GRCh38]
Chr8:145584159 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_001363118.2(SLC52A2):c.1066C>T (p.Leu356=) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000650474]|not specified [RCV001195343] Chr8:144360654 [GRCh38]
Chr8:145584314 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_001363118.2(SLC52A2):c.951C>T (p.Gly317=) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000650476] Chr8:144360443 [GRCh38]
Chr8:145584103 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.864G>A (p.Ala288=) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000650477] Chr8:144360356 [GRCh38]
Chr8:145584016 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.824G>A (p.Arg275His) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000536224] Chr8:144360316 [GRCh38]
Chr8:145583976 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
NM_001363118.2(SLC52A2):c.-110-1G>A single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000664210] Chr8:144359183 [GRCh38]
Chr8:145582843 [GRCh37]
Chr8:8q24.3
likely pathogenic|uncertain significance
NM_001363118.2(SLC52A2):c.1289A>G (p.Tyr430Cys) single nucleotide variant Brown-Vialetto-Van Laere syndrome 1 [RCV000661950]|Brown-Vialetto-Van Laere syndrome 2 [RCV000661948] Chr8:144360966 [GRCh38]
Chr8:145584626 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.297G>C (p.Trp99Cys) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000664211] Chr8:144359789 [GRCh38]
Chr8:145583449 [GRCh37]
Chr8:8q24.3
pathogenic|uncertain significance
NM_001363118.2(SLC52A2):c.1323C>A (p.Asp441Glu) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000699870] Chr8:144361000 [GRCh38]
Chr8:145584660 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3 copy number gain not provided [RCV000683020] Chr8:143815037..146295771 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
NM_001363118.2(SLC52A2):c.1181G>A (p.Ser394Asn) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000699628] Chr8:144360858 [GRCh38]
Chr8:145584518 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.1204C>T (p.Arg402Trp) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000704077] Chr8:144360881 [GRCh38]
Chr8:145584541 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.853G>A (p.Ala285Thr) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000687373] Chr8:144360345 [GRCh38]
Chr8:145584005 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.424C>T (p.Arg142Cys) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000690746] Chr8:144359916 [GRCh38]
Chr8:145583576 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.897C>G (p.Ser299Arg) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000707492] Chr8:144360389 [GRCh38]
Chr8:145584049 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.1094del (p.Leu365fs) deletion Brown-Vialetto-Van Laere syndrome 2 [RCV000693599] Chr8:144360682 [GRCh38]
Chr8:145584342 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.541C>T (p.Pro181Ser) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000705451] Chr8:144360033 [GRCh38]
Chr8:145583693 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.948G>A (p.Leu316=) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000703039]|not provided [RCV000827646] Chr8:144360440 [GRCh38]
Chr8:145584100 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_001363118.2(SLC52A2):c.143C>T (p.Pro48Leu) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000697919] Chr8:144359635 [GRCh38]
Chr8:145583295 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.83A>G (p.Asn28Ser) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000705882] Chr8:144359376 [GRCh38]
Chr8:145583036 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.605C>T (p.Ala202Val) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000691887] Chr8:144360097 [GRCh38]
Chr8:145583757 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.1240G>A (p.Val414Met) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000703522] Chr8:144360917 [GRCh38]
Chr8:145584577 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.68C>A (p.Ser23Tyr) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000689395] Chr8:144359361 [GRCh38]
Chr8:145583021 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.1307G>A (p.Arg436Lys) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000700649] Chr8:144360984 [GRCh38]
Chr8:145584644 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.1280C>T (p.Thr427Ile) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000687302] Chr8:144360957 [GRCh38]
Chr8:145584617 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.679G>A (p.Gly227Arg) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000688333] Chr8:144360171 [GRCh38]
Chr8:145583831 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.116A>G (p.Lys39Arg) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000703193] Chr8:144359409 [GRCh38]
Chr8:145583069 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.511G>A (p.Glu171Lys) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000691426] Chr8:144360003 [GRCh38]
Chr8:145583663 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.581G>A (p.Ser194Asn) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000700514] Chr8:144360073 [GRCh38]
Chr8:145583733 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.131-1G>C single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000703629] Chr8:144359622 [GRCh38]
Chr8:145583282 [GRCh37]
Chr8:8q24.3
likely pathogenic
GRCh37/hg19 8q24.3(chr8:145513753-145758661)x3 copy number gain not provided [RCV000748011] Chr8:145513753..145758661 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145513753-145753161)x3 copy number gain not provided [RCV000748009] Chr8:145513753..145753161 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145579325-145758635)x3 copy number gain not provided [RCV000748019] Chr8:145579325..145758635 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145513753-145758635)x3 copy number gain not provided [RCV000748010] Chr8:145513753..145758635 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145580535-145755918)x3 copy number gain not provided [RCV000748020] Chr8:145580535..145755918 [GRCh37]
Chr8:8q24.3
benign
NM_001363118.2(SLC52A2):c.1125+9_1125+10del deletion not provided [RCV000874862] Chr8:144360722..144360723 [GRCh38]
Chr8:145584382..145584383 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.962A>G (p.Asn321Ser) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001044549] Chr8:144360454 [GRCh38]
Chr8:145584114 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.1137G>C (p.Trp379Cys) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001046436] Chr8:144360814 [GRCh38]
Chr8:145584474 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.922C>T (p.Leu308=) single nucleotide variant not provided [RCV000923037] Chr8:144360414 [GRCh38]
Chr8:145584074 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.1074C>T (p.Val358=) single nucleotide variant not provided [RCV000973858] Chr8:144360662 [GRCh38]
Chr8:145584322 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.903C>T (p.Ser301=) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000982043] Chr8:144360395 [GRCh38]
Chr8:145584055 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.852C>T (p.Ala284=) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000891979] Chr8:144360344 [GRCh38]
Chr8:145584004 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.1278G>A (p.Pro426=) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000875635] Chr8:144360955 [GRCh38]
Chr8:145584615 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.1164C>T (p.Tyr388=) single nucleotide variant not provided [RCV000877500] Chr8:144360841 [GRCh38]
Chr8:145584501 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.576C>T (p.Pro192=) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000871205] Chr8:144360068 [GRCh38]
Chr8:145583728 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.744A>G (p.Ser248=) single nucleotide variant not provided [RCV000927329] Chr8:144360236 [GRCh38]
Chr8:145583896 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.1116G>C (p.Val372=) single nucleotide variant not provided [RCV000944728] Chr8:144360704 [GRCh38]
Chr8:145584364 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.245G>A (p.Arg82Gln) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001041764] Chr8:144359737 [GRCh38]
Chr8:145583397 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.87G>T (p.Gly29=) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001051170] Chr8:144359380 [GRCh38]
Chr8:145583040 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.13A>T (p.Thr5Ser) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000809279] Chr8:144359306 [GRCh38]
Chr8:145582966 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.528C>T (p.Pro176=) single nucleotide variant not provided [RCV000873277] Chr8:144360020 [GRCh38]
Chr8:145583680 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.414C>T (p.His138=) single nucleotide variant not provided [RCV000920572] Chr8:144359906 [GRCh38]
Chr8:145583566 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.342C>T (p.Phe114=) single nucleotide variant not provided [RCV000943400] Chr8:144359834 [GRCh38]
Chr8:145583494 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.540C>T (p.Thr180=) single nucleotide variant not provided [RCV000874246] Chr8:144360032 [GRCh38]
Chr8:145583692 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.1320A>G (p.Ala440=) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000874781] Chr8:144360997 [GRCh38]
Chr8:145584657 [GRCh37]
Chr8:8q24.3
benign
NM_001363118.2(SLC52A2):c.534C>T (p.Asn178=) single nucleotide variant not provided [RCV000964572] Chr8:144360026 [GRCh38]
Chr8:145583686 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.147T>C (p.Ser49=) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000880268] Chr8:144359639 [GRCh38]
Chr8:145583299 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.1293C>T (p.His431=) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000951040]|not specified [RCV001195344] Chr8:144360970 [GRCh38]
Chr8:145584630 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.1024C>T (p.Leu342Phe) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000799351] Chr8:144360612 [GRCh38]
Chr8:145584272 [GRCh37]
Chr8:8q24.3
uncertain significance
NC_000008.10:g.(?_144990335)_(145701149_?)dup duplication Epidermolysis bullosa simplex with muscular dystrophy [RCV000823255] Chr8:144990335..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.627T>G (p.Ala209=) single nucleotide variant not specified [RCV000825826] Chr8:144360119 [GRCh38]
Chr8:145583779 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.751C>T (p.Gln251Ter) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000818266] Chr8:144360243 [GRCh38]
Chr8:145583903 [GRCh37]
Chr8:8q24.3
pathogenic
NM_001363118.2(SLC52A2):c.397C>A (p.Leu133Met) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000812044] Chr8:144359889 [GRCh38]
Chr8:145583549 [GRCh37]
Chr8:8q24.3
uncertain significance
NC_000008.10:g.(?_144990325)_(145700664_?)dup duplication Brown-Vialetto-Van Laere syndrome 2 [RCV000808636] Chr8:144990325..145700664 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.401C>T (p.Pro134Leu) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000799056] Chr8:144359893 [GRCh38]
Chr8:145583553 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_001363118.2(SLC52A2):c.343T>C (p.Leu115=) single nucleotide variant not provided [RCV000827101] Chr8:144359835 [GRCh38]
Chr8:145583495 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.602C>A (p.Thr201Asn) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000816403] Chr8:144360094 [GRCh38]
Chr8:145583754 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3
pathogenic
NM_001363118.2(SLC52A2):c.616G>A (p.Ala206Thr) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000822989] Chr8:144360108 [GRCh38]
Chr8:145583768 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
NM_001363118.2(SLC52A2):c.920G>A (p.Arg307His) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000824162] Chr8:144360412 [GRCh38]
Chr8:145584072 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.889G>T (p.Val297Leu) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000802601] Chr8:144360381 [GRCh38]
Chr8:145584041 [GRCh37]
Chr8:8q24.3
uncertain significance
NC_000008.11:g.(?_144358571)_(144361296_?)dup duplication Brown-Vialetto-Van Laere syndrome 2 [RCV001031719] Chr8:145582231..145584956 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
NM_001363118.2(SLC52A2):c.217C>T (p.Pro73Ser) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000796101] Chr8:144359709 [GRCh38]
Chr8:145583369 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.1227C>T (p.Gly409=) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000794519]|not provided [RCV000841039] Chr8:144360904 [GRCh38]
Chr8:145584564 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_001363118.2(SLC52A2):c.1163A>G (p.Tyr388Cys) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000824228] Chr8:144360840 [GRCh38]
Chr8:145584500 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.219A>G (p.Pro73=) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000942949] Chr8:144359711 [GRCh38]
Chr8:145583371 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.302A>G (p.His101Arg) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000796340] Chr8:144359794 [GRCh38]
Chr8:145583454 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.709G>C (p.Ala237Pro) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000815761] Chr8:144360201 [GRCh38]
Chr8:145583861 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.822C>A (p.Ala274=) single nucleotide variant not specified [RCV000825827] Chr8:144360314 [GRCh38]
Chr8:145583974 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.1064C>A (p.Ala355Glu) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000799509] Chr8:144360652 [GRCh38]
Chr8:145584312 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
NM_001363118.2(SLC52A2):c.1076_1079del (p.Leu359fs) deletion Brown-Vialetto-Van Laere syndrome 2 [RCV000816576] Chr8:144360664..144360667 [GRCh38]
Chr8:145584324..145584327 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.825C>T (p.Arg275=) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000875328] Chr8:144360317 [GRCh38]
Chr8:145583977 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.280C>G (p.Leu94Val) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000823198] Chr8:144359772 [GRCh38]
Chr8:145583432 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3 copy number gain not provided [RCV000847854] Chr8:144190206..146295771 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.893A>G (p.Gln298Arg) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001067177] Chr8:144360385 [GRCh38]
Chr8:145584045 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:145287199-145705521)x3 copy number gain not provided [RCV001006156] Chr8:145287199..145705521 [GRCh37]
Chr8:8q24.3
uncertain significance
NC_000008.11:g.(?_144358571)_(144361296_?)del deletion Brown-Vialetto-Van Laere syndrome 2 [RCV001031238] Chr8:145582231..145584956 [GRCh37]
Chr8:8q24.3
pathogenic
NM_001363118.2(SLC52A2):c.565G>A (p.Glu189Lys) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001209011] Chr8:144360057 [GRCh38]
Chr8:145583717 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.433C>T (p.Arg145Trp) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001220961] Chr8:144359925 [GRCh38]
Chr8:145583585 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.1150G>A (p.Gly384Ser) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001217925] Chr8:144360827 [GRCh38]
Chr8:145584487 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.620C>T (p.Ser207Leu) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001223727] Chr8:144360112 [GRCh38]
Chr8:145583772 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.1025T>C (p.Leu342Pro) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001225957] Chr8:144360613 [GRCh38]
Chr8:145584273 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.580_581inv (p.Ser194Leu) inversion Brown-Vialetto-Van Laere syndrome 2 [RCV001218691] Chr8:144360072..144360073 [GRCh38]
Chr8:145583732..145583733 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.1315T>G (p.Cys439Gly) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001246966] Chr8:144360992 [GRCh38]
Chr8:145584652 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
NM_001363118.2(SLC52A2):c.724G>A (p.Glu242Lys) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001229957] Chr8:144360216 [GRCh38]
Chr8:145583876 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.591C>T (p.Phe197=) single nucleotide variant not provided [RCV000982108] Chr8:144360083 [GRCh38]
Chr8:145583743 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.657G>A (p.Pro219=) single nucleotide variant not provided [RCV000951538] Chr8:144360149 [GRCh38]
Chr8:145583809 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.693A>G (p.Ser231=) single nucleotide variant not provided [RCV000941066] Chr8:144360185 [GRCh38]
Chr8:145583845 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.131-7C>T single nucleotide variant not provided [RCV000875610] Chr8:144359616 [GRCh38]
Chr8:145583276 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.510C>T (p.Leu170=) single nucleotide variant not provided [RCV000887537] Chr8:144360002 [GRCh38]
Chr8:145583662 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.309C>T (p.Ala103=) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000951739] Chr8:144359801 [GRCh38]
Chr8:145583461 [GRCh37]
Chr8:8q24.3
benign
NM_001363118.2(SLC52A2):c.1173G>A (p.Val391=) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV000951944] Chr8:144360850 [GRCh38]
Chr8:145584510 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.861C>T (p.Asn287=) single nucleotide variant not provided [RCV000942730] Chr8:144360353 [GRCh38]
Chr8:145584013 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.1166T>G (p.Val389Gly) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001218982] Chr8:144360843 [GRCh38]
Chr8:145584503 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.1010C>T (p.Ala337Val) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001236064] Chr8:144360598 [GRCh38]
Chr8:145584258 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.290C>T (p.Ser97Phe) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001208686] Chr8:144359782 [GRCh38]
Chr8:145583442 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.1137G>A (p.Trp379Ter) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001220456] Chr8:144360814 [GRCh38]
Chr8:145584474 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.1064C>T (p.Ala355Val) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001234659] Chr8:144360652 [GRCh38]
Chr8:145584312 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.577G>A (p.Ala193Thr) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001070204] Chr8:144360069 [GRCh38]
Chr8:145583729 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.625G>A (p.Ala209Thr) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001048925] Chr8:144360117 [GRCh38]
Chr8:145583777 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.1125+7A>G single nucleotide variant not provided [RCV000913955] Chr8:144360720 [GRCh38]
Chr8:145584380 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.468G>T (p.Leu156=) single nucleotide variant not provided [RCV000934709] Chr8:144359960 [GRCh38]
Chr8:145583620 [GRCh37]
Chr8:8q24.3
likely benign
NM_001363118.2(SLC52A2):c.640C>G (p.Leu214Val) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001210754] Chr8:144360132 [GRCh38]
Chr8:145583792 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.1126-2A>C single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001068477] Chr8:144360801 [GRCh38]
Chr8:145584461 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.1225G>A (p.Gly409Ser) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001041523] Chr8:144360902 [GRCh38]
Chr8:145584562 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.164T>C (p.Val55Ala) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001215759] Chr8:144359656 [GRCh38]
Chr8:145583316 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.22C>T (p.Arg8Cys) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001050197] Chr8:144359315 [GRCh38]
Chr8:145582975 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.275C>T (p.Thr92Ile) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001042355] Chr8:144359767 [GRCh38]
Chr8:145583427 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.346G>A (p.Ala116Thr) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001040103] Chr8:144359838 [GRCh38]
Chr8:145583498 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.1244G>C (p.Gly415Ala) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001232885] Chr8:144360921 [GRCh38]
Chr8:145584581 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.1133C>T (p.Ser378Leu) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001210938] Chr8:144360810 [GRCh38]
Chr8:145584470 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.151G>A (p.Val51Ile) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001215029] Chr8:144359643 [GRCh38]
Chr8:145583303 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.1024_1025CT[3] (p.Leu344fs) microsatellite Brown-Vialetto-Van Laere syndrome 2 [RCV001059548] Chr8:144360612..144360613 [GRCh38]
Chr8:145584272..145584273 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.556G>A (p.Asp186Asn) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001039874] Chr8:144360048 [GRCh38]
Chr8:145583708 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.823C>T (p.Arg275Cys) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001228886] Chr8:144360315 [GRCh38]
Chr8:145583975 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.989G>T (p.Gly330Val) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001064512] Chr8:144360481 [GRCh38]
Chr8:145584141 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.353C>T (p.Ala118Val) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001064767] Chr8:144359845 [GRCh38]
Chr8:145583505 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.658CCA[2] (p.Pro222del) microsatellite Brown-Vialetto-Van Laere syndrome 2 [RCV001248260] Chr8:144360150..144360152 [GRCh38]
Chr8:145583810..145583812 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.790C>T (p.Pro264Ser) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001051944] Chr8:144360282 [GRCh38]
Chr8:145583942 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.656C>T (p.Pro219Leu) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001038742] Chr8:144360148 [GRCh38]
Chr8:145583808 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.244C>T (p.Arg82Trp) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001233227] Chr8:144359736 [GRCh38]
Chr8:145583396 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3 copy number gain not provided [RCV001259034] Chr8:144262042..146295771 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_001363118.2(SLC52A2):c.968T>C (p.Leu323Pro) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001257945] Chr8:144360460 [GRCh38]
Chr8:145584120 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_001363118.2(SLC52A2):c.328C>T (p.His110Tyr) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001312997] Chr8:144359820 [GRCh38]
Chr8:145583480 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:145555125-145779806)x3 copy number gain not provided [RCV001259512] Chr8:145555125..145779806 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.28G>A (p.Val10Met) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001307683] Chr8:144359321 [GRCh38]
Chr8:145582981 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.533A>G (p.Asn178Ser) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001351732] Chr8:144360025 [GRCh38]
Chr8:145583685 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.371C>T (p.Ala124Val) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001303535] Chr8:144359863 [GRCh38]
Chr8:145583523 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.1165G>T (p.Val389Leu) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001306657] Chr8:144360842 [GRCh38]
Chr8:145584502 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.919C>T (p.Arg307Cys) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001315569] Chr8:144360411 [GRCh38]
Chr8:145584071 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.1208C>T (p.Pro403Leu) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001307592] Chr8:144360885 [GRCh38]
Chr8:145584545 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.777C>T (p.Gly259=) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001346383] Chr8:144360269 [GRCh38]
Chr8:145583929 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.226G>A (p.Asp76Asn) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001321505] Chr8:144359718 [GRCh38]
Chr8:145583378 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.795C>A (p.Asp265Glu) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001322816] Chr8:144360287 [GRCh38]
Chr8:145583947 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.1250T>C (p.Leu417Pro) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001321980] Chr8:144360927 [GRCh38]
Chr8:145584587 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.1153G>A (p.Val385Met) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001341109] Chr8:144360830 [GRCh38]
Chr8:145584490 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.418C>T (p.Pro140Ser) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001341426] Chr8:144359910 [GRCh38]
Chr8:145583570 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.308C>T (p.Ala103Val) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001345473] Chr8:144359800 [GRCh38]
Chr8:145583460 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.1315T>C (p.Cys439Arg) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001315354] Chr8:144360992 [GRCh38]
Chr8:145584652 [GRCh37]
Chr8:8q24.3
uncertain significance
NC_000008.10:g.(?_145047561)_(145701149_?)dup duplication Brown-Vialetto-Van Laere syndrome 2 [RCV001301200] Chr8:145047561..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.209G>A (p.Arg70Lys) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001325491] Chr8:144359701 [GRCh38]
Chr8:145583361 [GRCh37]
Chr8:8q24.3
uncertain significance
NC_000008.10:g.(?_144990335)_(145701149_?)dup duplication Epidermolysis bullosa simplex with muscular dystrophy [RCV001327821] Chr8:144990335..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001363118.2(SLC52A2):c.145T>C (p.Ser49Pro) single nucleotide variant Brown-Vialetto-Van Laere syndrome 2 [RCV001352249] Chr8:144359637 [GRCh38]
Chr8:145583297 [GRCh37]
Chr8:8q24.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30224 AgrOrtholog
COSMIC SLC52A2 COSMIC
Ensembl Genes ENSG00000185803 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000285112 UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000333638 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000385961 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000431965 ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSP00000433583 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000433796 UniProtKB/TrEMBL
  ENSP00000434239 UniProtKB/TrEMBL
  ENSP00000434728 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000435820 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000436917 UniProtKB/TrEMBL
  ENSP00000494426 UniProtKB/Swiss-Prot
  ENSP00000495046 UniProtKB/Swiss-Prot
  ENSP00000495049 UniProtKB/Swiss-Prot
  ENSP00000495788 UniProtKB/Swiss-Prot
  ENSP00000495874 UniProtKB/Swiss-Prot
  ENSP00000496184 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000501554 UniProtKB/TrEMBL
  ENSP00000501821 UniProtKB/TrEMBL
  ENSP00000501929 UniProtKB/TrEMBL
  ENSP00000501933 UniProtKB/Swiss-Prot
  ENSP00000501973 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000501993 UniProtKB/Swiss-Prot
  ENSP00000502066 UniProtKB/TrEMBL
  ENSP00000502189 UniProtKB/TrEMBL
  ENSP00000502219 UniProtKB/TrEMBL
  ENSP00000502274 UniProtKB/Swiss-Prot
  ENSP00000502294 UniProtKB/Swiss-Prot
  ENSP00000502406 UniProtKB/Swiss-Prot
  ENSP00000502652 UniProtKB/Swiss-Prot
  ENSP00000502670 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000502796 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000329994 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000402965 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000524541 UniProtKB/TrEMBL
  ENST00000526338 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000526752 UniProtKB/TrEMBL
  ENST00000526779 UniProtKB/TrEMBL
  ENST00000526891 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000527078 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000530047 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000532815 UniProtKB/Swiss-Prot
  ENST00000533662 UniProtKB/Swiss-Prot
  ENST00000534725 ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENST00000643944 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000644059 UniProtKB/Swiss-Prot
  ENST00000644819 UniProtKB/Swiss-Prot
  ENST00000645040 UniProtKB/Swiss-Prot
  ENST00000645386 UniProtKB/Swiss-Prot
  ENST00000646034 UniProtKB/Swiss-Prot
  ENST00000674779 UniProtKB/TrEMBL
  ENST00000674821 UniProtKB/TrEMBL
  ENST00000674870 UniProtKB/Swiss-Prot
  ENST00000674929 UniProtKB/TrEMBL
  ENST00000675121 UniProtKB/Swiss-Prot
  ENST00000675280 UniProtKB/Swiss-Prot
  ENST00000675292 UniProtKB/Swiss-Prot
  ENST00000675597 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000675787 UniProtKB/TrEMBL
  ENST00000675888 UniProtKB/Swiss-Prot
  ENST00000676094 UniProtKB/TrEMBL
  ENST00000676358 UniProtKB/TrEMBL
GTEx ENSG00000185803 GTEx
  ENSG00000285112 GTEx
HGNC ID HGNC:30224 ENTREZGENE
Human Proteome Map SLC52A2 Human Proteome Map
InterPro Riboflavin_transptr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:79581 UniProtKB/Swiss-Prot
NCBI Gene 79581 ENTREZGENE
OMIM 607882 OMIM
  614707 OMIM
PANTHER PTHR12929 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DUF1011 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134982935 PharmGKB
UniProt A0A6Q8PFH5_HUMAN UniProtKB/TrEMBL
  A0A6Q8PFQ5_HUMAN UniProtKB/TrEMBL
  A0A6Q8PG35_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGB9_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGE2_HUMAN UniProtKB/TrEMBL
  A0A6Q8PHF8_HUMAN UniProtKB/TrEMBL
  E9PIX2_HUMAN UniProtKB/TrEMBL
  E9PJC1_HUMAN UniProtKB/TrEMBL
  E9PKE4_HUMAN UniProtKB/TrEMBL
  E9PPS0_HUMAN UniProtKB/TrEMBL
  E9PRC3_HUMAN UniProtKB/TrEMBL
  Q9HAB3 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A8K6B6 UniProtKB/Swiss-Prot
  D3DWL8 UniProtKB/Swiss-Prot
  G1UCY1 UniProtKB/Swiss-Prot
  Q86UT1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 SLC52A2  solute carrier family 52 member 2  SLC52A2  solute carrier family 52 (riboflavin transporter), member 2  Symbol and/or name change 5135510 APPROVED
2013-07-23 SLC52A2  solute carrier family 52 (riboflavin transporter), member 2  SLC52A2  solute carrier family 52, riboflavin transporter, member 2  Symbol and/or name change 5135510 APPROVED
2012-07-31 SLC52A2  solute carrier family 52, riboflavin transporter, member 2  SLC52A2  solute carrier family 52, riboflavin transporter, member 2  Symbol and/or name change 5135510 APPROVED
2012-03-06 SLC52A2  solute carrier family 52, riboflavin transporter, member 2  GPR172A  G protein-coupled receptor 172A  Symbol and/or name change 5135510 APPROVED
2011-12-13 GPR172A  G protein-coupled receptor 172A  GPR172A  G protein-coupled receptor 172A  Symbol and/or name change 5135510 APPROVED