SLC34A1 (solute carrier family 34 member 1) - Rat Genome Database
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Gene: SLC34A1 (solute carrier family 34 member 1) Homo sapiens
Analyze
Symbol: SLC34A1
Name: solute carrier family 34 member 1
RGD ID: 733686
HGNC Page HGNC
Description: Exhibits sodium:phosphate symporter activity. Involved in several processes, including phosphate ion homeostasis; response to cadmium ion; and response to lead ion. Localizes to several cellular components, including apical plasma membrane; mitotic spindle; and nuclear speck. Implicated in several diseases, including Fanconi syndrome (multiple); chronic kidney disease; hereditary hypophosphatemic rickets with hypercalciuria; hypophosphatemic nephrolithiasis/osteoporosis 1; and nephrolithiasis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: FRTS2; HCINF2; Na(+)-dependent phosphate cotransporter 2A; Na(+)/Pi cotransporter 2A; Na+-phosphate cotransporter type II; naPi-2a; NAPI-3; NPHLOP1; NPT2; NPTIIa; renal sodium-dependent phosphate transporter; SLC11; SLC17A2; sodium-dependent phosphate transport protein 2A; sodium-phosphate transport protein 2A; sodium/phosphate co-transporter; sodium/phosphate cotransporter 2A; solute carrier family 17 (sodium phosphate), member 2; solute carrier family 34 (sodium phosphate), member 1; solute carrier family 34 (type II sodium/phosphate cotransporter), member 1; solute carrier family 34, 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
GRCh38.p13 Ensembl5177,379,235 - 177,398,848 (+)EnsemblGRCh38hg38GRCh38
GRCh385177,384,434 - 177,412,021 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh375176,811,432 - 176,825,849 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365176,744,041 - 176,758,455 (+)NCBINCBI36hg18NCBI36
Build 345176,744,060 - 176,758,454NCBI
Celera5171,675,605 - 171,689,835 (-)NCBI
Cytogenetic Map5q35.3NCBI
HuRef5171,732,061 - 171,746,276 (+)NCBIHuRef
CHM1_15176,244,481 - 176,258,897 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
1. Alcalde AI, etal., Endocrinology. 1999 Apr;140(4):1544-51.
2. Beck L, etal., Proc Natl Acad Sci U S A. 1998 Apr 28;95(9):5372-7.
3. Chau H, etal., J Bone Miner Res. 2003 Apr;18(4):644-57.
4. Elhalel MD, etal., Pflugers Arch. 2004 Dec;449(3):265-70.
5. Gattineni J, etal., Am J Physiol Renal Physiol. 2009 Aug;297(2):F282-91. doi: 10.1152/ajprenal.90742.2008. Epub 2009 Jun 10.
6. GOA_HUMAN data from the GO Consortium
7. Hu MC, etal., FASEB J. 2010 Sep;24(9):3438-50. doi: 10.1096/fj.10-154765. Epub 2010 May 13.
8. Inoue M, etal., J Biol Chem. 2004 Nov 19;279(47):49160-71. Epub 2004 Sep 7.
9. Iwaki T, etal., J Am Soc Nephrol. 2008 Sep;19(9):1753-62. doi: 10.1681/ASN.2007121360. Epub 2008 Jun 11.
10. Kamimoto M, etal., Biomed Res. 2009 Aug;30(4):251-8.
11. Kastner C, etal., Am J Physiol Renal Physiol. 2009 Apr;296(4):F902-11. doi: 10.1152/ajprenal.90451.2008. Epub 2009 Feb 4.
12. Khan SR and Canales BK, J Urol. 2011 Sep;186(3):1107-13. doi: 10.1016/j.juro.2011.04.109. Epub 2011 Jul 23.
13. Khan SR and Glenton PA, Am J Physiol Renal Physiol. 2008 May;294(5):F1109-15. doi: 10.1152/ajprenal.00620.2007. Epub 2008 Mar 12.
14. Kottgen A, etal., Nat Genet. 2010 May;42(5):376-84. doi: 10.1038/ng.568. Epub 2010 Apr 11.
15. Lorenz-Depiereux B, etal., Am J Hum Genet. 2006 Feb;78(2):193-201. Epub 2005 Dec 9.
16. Magagnin S, etal., Proc Natl Acad Sci U S A 1993 Jul 1;90(13):5979-83.
17. Magen D, etal., N Engl J Med. 2010 Mar 25;362(12):1102-9. doi: 10.1056/NEJMoa0905647.
18. Moe SM, etal., J Bone Miner Res. 2011 Nov;26(11):2672-81. doi: 10.1002/jbmr.485.
19. Mohebbi N, etal., Am J Physiol Renal Physiol. 2007 Jul;293(1):F416-27. Epub 2007 Apr 4.
20. Mohebbi N, etal., Am J Physiol Renal Physiol. 2009 Aug;297(2):F499-509. doi: 10.1152/ajprenal.90489.2008. Epub 2009 May 13.
21. Nakatani T, etal., FASEB J. 2009 Feb;23(2):433-41. doi: 10.1096/fj.08-114397. Epub 2008 Oct 3.
22. Nowik M, etal., Pflugers Arch. 2008 Nov;457(2):539-49. doi: 10.1007/s00424-008-0530-5. Epub 2008 Jun 6.
23. Ohnishi M and Razzaque MS, FASEB J. 2010 Sep;24(9):3562-71. doi: 10.1096/fj.09-152488. Epub 2010 Apr 23.
24. OMIM Disease Annotation Pipeline
25. Prie D, etal., Horm Res Paediatr. 2011;76 Suppl 1:71-5. doi: 10.1159/000329175. Epub 2011 Jul 21.
26. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
27. RGD automated import pipeline for gene-chemical interactions
28. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
29. Rubinger D, etal., Nephron Physiol. 2005;100(1):p1-12. Epub 2005 Mar 17.
30. Segawa H, etal., Am J Physiol Renal Physiol. 2009 Sep;297(3):F671-8. doi: 10.1152/ajprenal.00156.2009. Epub 2009 Jul 1.
31. Urabe Y, etal., PLoS Genet. 2012;8(3):e1002541. doi: 10.1371/journal.pgen.1002541. Epub 2012 Mar 1.
32. Vogel M, etal., J Am Soc Nephrol. 2000 Oct;11(10):1926-32.
33. Xiao L, etal., J Biol Chem. 2010 Jan 22;285(4):2834-46. doi: 10.1074/jbc.M109.030577. Epub 2009 Nov 20.
Additional References at PubMed
PMID:8188224   PMID:8693007   PMID:8898024   PMID:9210418   PMID:9530108   PMID:9683733   PMID:11099500   PMID:11880379   PMID:12324554   PMID:12477932   PMID:12952859   PMID:14531806  
PMID:14558883   PMID:14672348   PMID:14694264   PMID:14702039   PMID:15342556   PMID:15504898   PMID:15613617   PMID:16105044   PMID:16688119   PMID:16955105   PMID:17895247   PMID:20558539  
PMID:21597970   PMID:21873635   PMID:22506049   PMID:22703881   PMID:23313484   PMID:24068962   PMID:24258620   PMID:25050900   PMID:25608964   PMID:26047794   PMID:27378183   PMID:27432882  
PMID:28470390   PMID:29029121   PMID:29924459   PMID:30021884   PMID:30227399   PMID:31188746   PMID:33001583  


Genomics

Comparative Map Data
SLC34A1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl5177,379,235 - 177,398,848 (+)EnsemblGRCh38hg38GRCh38
GRCh385177,384,434 - 177,412,021 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh375176,811,432 - 176,825,849 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365176,744,041 - 176,758,455 (+)NCBINCBI36hg18NCBI36
Build 345176,744,060 - 176,758,454NCBI
Celera5171,675,605 - 171,689,835 (-)NCBI
Cytogenetic Map5q35.3NCBI
HuRef5171,732,061 - 171,746,276 (+)NCBIHuRef
CHM1_15176,244,481 - 176,258,897 (+)NCBICHM1_1
Slc34a1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391355,547,435 - 55,562,508 (+)NCBIGRCm39mm39
GRCm381355,399,622 - 55,414,695 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1355,398,187 - 55,415,592 (+)EnsemblGRCm38mm10GRCm38
MGSCv371355,501,009 - 55,516,056 (+)NCBIGRCm37mm9NCBIm37
MGSCv361355,409,326 - 55,423,713 (+)NCBImm8
Celera1356,453,307 - 56,468,818 (+)NCBICelera
Cytogenetic Map13B1NCBI
cM Map1329.81NCBI
Slc34a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.0179,747,766 - 9,762,739 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl179,747,752 - 9,762,813 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01711,856,946 - 11,872,100 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41715,262,929 - 15,277,902 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11715,262,928 - 15,277,902 (-)NCBI
Celera179,297,383 - 9,312,355 (-)NCBICelera
Cytogenetic Map17p14NCBI
RH 3.4 Map1781.4RGD
Slc34a1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540829,626,775 - 29,640,875 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540829,626,775 - 29,640,811 (+)NCBIChiLan1.0ChiLan1.0
SLC34A1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.15179,748,492 - 179,762,804 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5179,748,492 - 179,762,975 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v05172,685,862 - 172,700,440 (+)NCBIMhudiblu_PPA_v0panPan3
SLC34A1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl435,961,958 - 35,973,657 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1435,961,394 - 35,973,733 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Slc34a1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365971,667,700 - 1,684,533 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC34A1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl280,548,232 - 80,563,321 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1280,548,208 - 80,563,380 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
SLC34A1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12379,395,923 - 79,410,835 (+)NCBI
ChlSab1.1 Ensembl2379,396,250 - 79,411,695 (+)Ensembl
Slc34a1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473312,685,544 - 12,699,908 (-)NCBI

Position Markers
RH17618  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375176,825,584 - 176,825,709UniSTSGRCh37
Build 365176,758,190 - 176,758,315RGDNCBI36
Celera5171,675,745 - 171,675,870RGD
Cytogenetic Map5q35UniSTS
HuRef5171,746,011 - 171,746,136UniSTS
GeneMap99-GB4 RH Map5636.91UniSTS
NCBI RH Map5973.0UniSTS
SLC34A1_7879  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375176,825,083 - 176,825,931UniSTSGRCh37
Build 365176,757,689 - 176,758,537RGDNCBI36
Celera5171,675,523 - 171,676,371RGD
HuRef5171,745,510 - 171,746,358UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1562
Count of miRNA genes:810
Interacting mature miRNAs:963
Transcripts:ENST00000324417, ENST00000504577, ENST00000507685, ENST00000512593, ENST00000513614
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage
High
Medium 1 140 6
Low 4 31 199 199 174 199 117 3 1 96 49 14 2 43
Below cutoff 1203 1468 740 316 1431 218 2252 721 1473 120 946 843 105 585 1335

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001167579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_941112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_941113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC145098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF058289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI650347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC053349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI759164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP275443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D89927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L13258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U57548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000324417   ⟹   ENSP00000321424
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5177,384,434 - 177,398,848 (+)Ensembl
RefSeq Acc Id: ENST00000504577   ⟹   ENSP00000423733
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5177,379,235 - 177,386,290 (+)Ensembl
RefSeq Acc Id: ENST00000507685
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5177,384,451 - 177,397,305 (+)Ensembl
RefSeq Acc Id: ENST00000512593   ⟹   ENSP00000423022
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5177,384,434 - 177,390,513 (+)Ensembl
RefSeq Acc Id: ENST00000513614
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5177,389,647 - 177,398,840 (+)Ensembl
RefSeq Acc Id: NM_001167579   ⟹   NP_001161051
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,384,434 - 177,390,513 (+)NCBI
GRCh375176,811,432 - 176,825,849 (+)ENTREZGENE
HuRef5171,732,061 - 171,746,276 (+)ENTREZGENE
CHM1_15176,244,481 - 176,250,563 (+)NCBI
Sequence:
RefSeq Acc Id: NM_003052   ⟹   NP_003043
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,384,434 - 177,398,848 (+)NCBI
GRCh375176,811,432 - 176,825,849 (+)ENTREZGENE
Build 365176,744,041 - 176,758,455 (+)NCBI Archive
HuRef5171,732,061 - 171,746,276 (+)ENTREZGENE
CHM1_15176,244,481 - 176,258,897 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017009773   ⟹   XP_016865262
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,384,434 - 177,412,021 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017009774   ⟹   XP_016865263
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,390,347 - 177,398,848 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017009775   ⟹   XP_016865264
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,384,434 - 177,389,632 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024446191   ⟹   XP_024301959
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,384,434 - 177,398,848 (+)NCBI
Sequence:
RefSeq Acc Id: XR_941112
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,384,434 - 177,398,848 (+)NCBI
Sequence:
RefSeq Acc Id: XR_941113
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,384,434 - 177,392,252 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_003043   ⟸   NM_003052
- Peptide Label: isoform 1
- UniProtKB: Q06495 (UniProtKB/Swiss-Prot),   A0A024R7R9 (UniProtKB/TrEMBL),   Q7Z725 (UniProtKB/TrEMBL),   Q86VN6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001161051   ⟸   NM_001167579
- Peptide Label: isoform 2
- UniProtKB: Q06495 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016865262   ⟸   XM_017009773
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016865264   ⟸   XM_017009775
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016865263   ⟸   XM_017009774
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_024301959   ⟸   XM_024446191
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000423733   ⟸   ENST00000504577
RefSeq Acc Id: ENSP00000321424   ⟸   ENST00000324417
RefSeq Acc Id: ENSP00000423022   ⟸   ENST00000512593

Promoters
RGD ID:6812828
Promoter ID:HG_ACW:66682
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:SLC34A1.DAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 365176,738,821 - 176,739,321 (+)MPROMDB
RGD ID:6871702
Promoter ID:EPDNEW_H9016
Type:single initiation site
Name:SLC34A1_1
Description:solute carrier family 34 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
GRCh385177,384,434 - 177,384,494EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003052.5(SLC34A1):c.142_143delinsTT (p.Ala48Phe) indel Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV000013794] Chr5:177386019..177386020 [GRCh38]
Chr5:176813020..176813021 [GRCh37]
Chr5:5q35.3
pathogenic
NM_003052.5(SLC34A1):c.439G>A (p.Val147Met) single nucleotide variant Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV000013795] Chr5:177386473 [GRCh38]
Chr5:176813474 [GRCh37]
Chr5:5q35.3
pathogenic
NM_003052.5(SLC34A1):c.460_480dup (p.Ile154_Val160dup) duplication Fanconi renotubular syndrome 2 [RCV000013796] Chr5:177386492..177386493 [GRCh38]
Chr5:176813493..176813494 [GRCh37]
Chr5:5q35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176132340-177586960)x1 copy number loss See cases [RCV000050645] Chr5:176132340..177586960 [GRCh38]
Chr5:175559343..177013961 [GRCh37]
Chr5:175491949..176946567 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3 copy number gain See cases [RCV000051863] Chr5:149714592..181272151 [GRCh38]
Chr5:149094155..180699152 [GRCh37]
Chr5:149074348..180631758 [NCBI36]
Chr5:5q32-35.3
pathogenic
GRCh38/hg38 5q33.3-35.3(chr5:160029980-181269805)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]|See cases [RCV000051865] Chr5:160029980..181269805 [GRCh38]
Chr5:159456987..180696806 [GRCh37]
Chr5:159389565..180629412 [NCBI36]
Chr5:5q33.3-35.3
pathogenic
GRCh38/hg38 5q34-35.3(chr5:168689326-181269946)x3 copy number gain See cases [RCV000051866] Chr5:168689326..181269946 [GRCh38]
Chr5:168116331..180696947 [GRCh37]
Chr5:168048909..180629553 [NCBI36]
Chr5:5q34-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175851047-178365049)x3 copy number gain See cases [RCV000051867] Chr5:175851047..178365049 [GRCh38]
Chr5:175278050..177792050 [GRCh37]
Chr5:175210656..177724656 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3 copy number gain See cases [RCV000051868] Chr5:175889986..180793986 [GRCh38]
Chr5:175316989..180220986 [GRCh37]
Chr5:175249595..180153592 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175007241-179089812)x1 copy number loss See cases [RCV000052151] Chr5:175007241..179089812 [GRCh38]
Chr5:174434244..178516813 [GRCh37]
Chr5:174366850..178449419 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176043476-177995759)x1 copy number loss See cases [RCV000053127] Chr5:176043476..177995759 [GRCh38]
Chr5:175470479..177422760 [GRCh37]
Chr5:175403085..177355366 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176115257-177646633)x1 copy number loss See cases [RCV000053128] Chr5:176115257..177646633 [GRCh38]
Chr5:175542260..177073634 [GRCh37]
Chr5:175474866..177006240 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176152073-177986213)x1 copy number loss See cases [RCV000053129] Chr5:176152073..177986213 [GRCh38]
Chr5:175579076..177413214 [GRCh37]
Chr5:175511682..177345820 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176152073-177646633)x1 copy number loss See cases [RCV000053131] Chr5:176152073..177646633 [GRCh38]
Chr5:175579076..177073634 [GRCh37]
Chr5:175511682..177006240 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176149599-177716401)x3 copy number gain See cases [RCV000053481] Chr5:176149599..177716401 [GRCh38]
Chr5:175576602..177143402 [GRCh37]
Chr5:175509208..177076008 [NCBI36]
Chr5:5q35.2-35.3
pathogenic|uncertain significance
NM_003052.5(SLC34A1):c.303G>A (p.Leu101=) single nucleotide variant not provided [RCV000054680] Chr5:177386264 [GRCh38]
Chr5:176813265 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_003052.5(SLC34A1):c.660C>G (p.Ala220=) single nucleotide variant not provided [RCV000054681] Chr5:177388009 [GRCh38]
Chr5:176815010 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_003052.5(SLC34A1):c.1432T>C (p.Phe478Leu) single nucleotide variant not provided [RCV000054707] Chr5:177397798 [GRCh38]
Chr5:176824799 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_003052.5(SLC34A1):c.1707G>T (p.Leu569=) single nucleotide variant not provided [RCV000054708] Chr5:177398073 [GRCh38]
Chr5:176825074 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_003052.5(SLC34A1):c.1739C>A (p.Pro580His) single nucleotide variant not provided [RCV000054709] Chr5:177398105 [GRCh38]
Chr5:176825106 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_003052.5(SLC34A1):c.1912C>T (p.Arg638Cys) single nucleotide variant not provided [RCV000054710] Chr5:177398278 [GRCh38]
Chr5:176825279 [GRCh37]
Chr5:5q35.3
uncertain significance
GRCh38/hg38 5q35.2-35.3(chr5:176043476-177452489)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053860]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053860]|See cases [RCV000053860] Chr5:176043476..177452489 [GRCh38]
Chr5:175470479..176879490 [GRCh37]
Chr5:175403085..176812096 [NCBI36]
Chr5:5q35.2-35.3
pathogenic|uncertain significance
NM_003052.5(SLC34A1):c.1204G>C (p.Gly402Arg) single nucleotide variant Nephrocalcinosis [RCV000662328] Chr5:177396762 [GRCh38]
Chr5:176823763 [GRCh37]
Chr5:5q35.3
likely pathogenic
NM_003052.5(SLC34A1):c.1724C>T (p.Thr575Ile) single nucleotide variant Nephrocalcinosis [RCV000662329] Chr5:177398090 [GRCh38]
Chr5:176825091 [GRCh37]
Chr5:5q35.3
likely pathogenic
NM_003052.5(SLC34A1):c.536T>C (p.Leu179Pro) single nucleotide variant Nephrocalcinosis [RCV000662332] Chr5:177387765 [GRCh38]
Chr5:176814766 [GRCh37]
Chr5:5q35.3
likely pathogenic
NM_000505.3(F12):c.1027G>C (p.Ala343Pro) single nucleotide variant Factor XII deficiency disease [RCV000490384] Chr5:177404082 [GRCh38]
Chr5:176831083 [GRCh37]
Chr5:5q35.3
likely pathogenic|likely benign|conflicting interpretations of pathogenicity
NM_000505.3(F12):c.983C>G (p.Thr328Arg) single nucleotide variant Factor XII deficiency disease [RCV001198361]|Hereditary angioedema type 3 [RCV000001229]|Hyperbilirubinemia [RCV000414902] Chr5:177404231 [GRCh38]
Chr5:176831232 [GRCh37]
Chr5:5q35.3
pathogenic
NM_000505.4(F12):c.983C>A (p.Thr328Lys) single nucleotide variant Factor XII deficiency disease [RCV000763138]|Hereditary angioedema type 3 [RCV000001228]|Hereditary angioneurotic edema [RCV000222890]|not provided [RCV000255869] Chr5:177404231 [GRCh38]
Chr5:176831232 [GRCh37]
Chr5:5q35.3
pathogenic
NM_000505.3(F12):c.158A>G (p.Tyr53Cys) single nucleotide variant FACTOR XII (TENRI) [RCV000001227]|Factor XII deficiency disease [RCV000778921]|Hereditary angioedema type 3 [RCV001158012] Chr5:177406019 [GRCh38]
Chr5:176833020 [GRCh37]
Chr5:5q35.3
pathogenic|uncertain significance
NM_000505.4(F12):c.-4T>C single nucleotide variant FACTOR XII POLYMORPHISM [RCV000001226]|Factor XII deficiency disease [RCV000293630]|Hereditary angioedema type 3 [RCV000346234]|not specified [RCV000242780] Chr5:177409531 [GRCh38]
Chr5:176836532 [GRCh37]
Chr5:5q35.3
benign
NM_000505.3(F12):c.1681-1G>A single nucleotide variant F12-Related Disorders [RCV000382012]|Factor XII deficiency disease [RCV000001225]|Nephrolithiasis/osteoporosis, hypophosphatemic [RCV000306437] Chr5:177402460 [GRCh38]
Chr5:176829461 [GRCh37]
Chr5:5q35.3
pathogenic|likely pathogenic|likely benign
NM_000505.3(F12):c.1115G>C (p.Arg372Pro) single nucleotide variant FACTOR XII (LOCARNO) [RCV000001224] Chr5:177403994 [GRCh38]
Chr5:176830995 [GRCh37]
Chr5:5q35.3
pathogenic
NM_003052.5(SLC34A1):c.13G>A (p.Gly5Arg) single nucleotide variant Malignant tumor of prostate [RCV000149142] Chr5:177385754 [GRCh38]
Chr5:176812755 [GRCh37]
Chr5:5q35.3
uncertain significance
GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3 copy number gain See cases [RCV000133847] Chr5:156825512..181269805 [GRCh38]
Chr5:156252523..180696806 [GRCh37]
Chr5:156185101..180629412 [NCBI36]
Chr5:5q33.3-35.3
pathogenic
GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3 copy number gain See cases [RCV000135546] Chr5:164386701..181269805 [GRCh38]
Chr5:163813707..180696806 [GRCh37]
Chr5:163746285..180629412 [NCBI36]
Chr5:5q34-35.3
pathogenic
GRCh38/hg38 5q35.3(chr5:177261458-177651722)x3 copy number gain See cases [RCV000138817] Chr5:177261458..177651722 [GRCh38]
Chr5:176688459..177078723 [GRCh37]
Chr5:176621065..177011329 [NCBI36]
Chr5:5q35.3
likely benign|uncertain significance
GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3 copy number gain See cases [RCV000141249] Chr5:169334755..181285301 [GRCh38]
Chr5:168761759..180712302 [GRCh37]
Chr5:168694337..180644908 [NCBI36]
Chr5:5q35.1-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1 copy number loss See cases [RCV000141987] Chr5:175536771..181292788 [GRCh38]
Chr5:174963774..180719789 [GRCh37]
Chr5:174896380..180652395 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175989092-178009412)x1 copy number loss See cases [RCV000142365] Chr5:175989092..178009412 [GRCh38]
Chr5:175416095..177436413 [GRCh37]
Chr5:175348701..177369019 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176132340-177995759)x1 copy number loss See cases [RCV000142510] Chr5:176132340..177995759 [GRCh38]
Chr5:175559343..177422760 [GRCh37]
Chr5:175491949..177355366 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176291838-178662699)x1 copy number loss See cases [RCV000142047] Chr5:176291838..178662699 [GRCh38]
Chr5:175718841..178089700 [GRCh37]
Chr5:175651447..178022306 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176700128-181269805)x1 copy number loss See cases [RCV000142648] Chr5:176700128..181269805 [GRCh38]
Chr5:176127129..180696806 [GRCh37]
Chr5:176059735..180629412 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176517339-177709289)x1 copy number loss See cases [RCV000142538] Chr5:176517339..177709289 [GRCh38]
Chr5:175944340..177136290 [GRCh37]
Chr5:175876946..177068896 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176143674-178009412)x1 copy number loss See cases [RCV000143463] Chr5:176143674..178009412 [GRCh38]
Chr5:175570677..177436413 [GRCh37]
Chr5:175503283..177369019 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174397487-180686444)x1 copy number loss See cases [RCV000167565] Chr5:174397487..180686444 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
NM_003052.5(SLC34A1):c.741C>A (p.Ile247=) single nucleotide variant Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV000259233] Chr5:177388090 [GRCh38]
Chr5:176815091 [GRCh37]
Chr5:5q35.3
benign|likely benign
NM_000505.3(F12):c.398-12C>T single nucleotide variant Factor XII deficiency disease [RCV000263338]|Hereditary angioedema type 3 [RCV000316243] Chr5:177405197 [GRCh38]
Chr5:176832198 [GRCh37]
Chr5:5q35.3
benign|likely benign
NM_003052.5(SLC34A1):c.437C>T (p.Pro146Leu) single nucleotide variant Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV000263742] Chr5:177386471 [GRCh38]
Chr5:176813472 [GRCh37]
Chr5:5q35.3
benign|likely benign
NM_003052.5(SLC34A1):c.458G>T (p.Gly153Val) single nucleotide variant Hypercalcemia, infantile, 2 [RCV000223664]|SLC34A1-Related Disorders [RCV000778761] Chr5:177386492 [GRCh38]
Chr5:176813493 [GRCh37]
Chr5:5q35.3
pathogenic|likely pathogenic
NM_003052.5(SLC34A1):c.458G>C (p.Gly153Ala) single nucleotide variant Hypercalcemia, infantile, 2 [RCV000223665] Chr5:177386492 [GRCh38]
Chr5:176813493 [GRCh37]
Chr5:5q35.3
pathogenic
NM_003052.5(SLC34A1):c.272_292del (p.Val91_Ala97del) deletion Hypercalcemia, infantile, 2 [RCV000223670]|not provided [RCV000951080] Chr5:177386232..177386252 [GRCh38]
Chr5:176813233..176813253 [GRCh37]
Chr5:5q35.3
pathogenic|likely pathogenic|benign
NM_003052.5(SLC34A1):c.1006+1G>A single nucleotide variant Hypercalcemia, infantile, 2 [RCV000223671]|Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV001157728]|not provided [RCV000354958] Chr5:177393764 [GRCh38]
Chr5:176820765 [GRCh37]
Chr5:5q35.3
pathogenic|uncertain significance
NM_003052.5(SLC34A1):c.644+1G>A single nucleotide variant Hypercalcemia, infantile, 2 [RCV000223675]|Nephrocalcinosis [RCV000662327] Chr5:177387874 [GRCh38]
Chr5:176814875 [GRCh37]
Chr5:5q35.3
pathogenic|likely pathogenic
NM_003052.5(SLC34A1):c.1006T>G (p.Cys336Gly) single nucleotide variant Hypercalcemia, infantile, 2 [RCV000223677] Chr5:177393763 [GRCh38]
Chr5:176820764 [GRCh37]
Chr5:5q35.3
pathogenic
NM_003052.5(SLC34A1):c.284G>A (p.Arg95His) single nucleotide variant Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV000267209]|not provided [RCV000886573]|not specified [RCV000238871] Chr5:177386245 [GRCh38]
Chr5:176813246 [GRCh37]
Chr5:5q35.3
benign|likely benign
NM_000505.3(F12):c.1018+13G>C single nucleotide variant Factor XII deficiency disease [RCV000378159]|Hereditary angioedema type 3 [RCV000283662] Chr5:177404183 [GRCh38]
Chr5:176831184 [GRCh37]
Chr5:5q35.3
benign|likely benign|uncertain significance
NM_000505.4(F12):c.619G>C (p.Ala207Pro) single nucleotide variant Factor XII deficiency disease [RCV000360167]|Hereditary angioedema type 3 [RCV000264675]|not specified [RCV000252303] Chr5:177404825 [GRCh38]
Chr5:176831826 [GRCh37]
Chr5:5q35.3
benign
NM_000505.3(F12):c.1107G>C (p.Ser369=) single nucleotide variant Factor XII deficiency disease [RCV000327151]|Hereditary angioedema type 3 [RCV000271624]|not provided [RCV000861563] Chr5:177404002 [GRCh38]
Chr5:176831003 [GRCh37]
Chr5:5q35.3
benign|likely benign|uncertain significance
NM_000505.4(F12):c.1251-9C>T single nucleotide variant Factor XII deficiency disease [RCV000407124]|Hereditary angioedema type 3 [RCV001153639]|Hereditary angioneurotic edema [RCV000315363]|Nephrolithiasis/osteoporosis, hypophosphatemic [RCV000262305]|not specified [RCV000247566] Chr5:177403626 [GRCh38]
Chr5:176830627 [GRCh37]
Chr5:5q35.3
benign
NM_000505.3(F12):c.1025C>T (p.Pro342Leu) single nucleotide variant Factor XII deficiency disease [RCV000323673]|Hereditary angioedema type 3 [RCV000268631]|not provided [RCV000659040] Chr5:177404084 [GRCh38]
Chr5:176831085 [GRCh37]
Chr5:5q35.3
benign|likely benign|uncertain significance
NM_003052.5(SLC34A1):c.*239C>A single nucleotide variant Nephrolithiasis/osteoporosis, hypophosphatemic [RCV000276194]|Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV001153525] Chr5:177398525 [GRCh38]
Chr5:176825526 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_000505.3(F12):c.930G>C (p.Arg310Ser) single nucleotide variant Factor XII deficiency disease [RCV000351816]|Hereditary angioedema type 3 [RCV000278152]|not specified [RCV000441555] Chr5:177404284 [GRCh38]
Chr5:176831285 [GRCh37]
Chr5:5q35.3
benign|likely benign
NM_003052.5(SLC34A1):c.774T>C (p.His258=) single nucleotide variant Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV000333130]|not specified [RCV001195554] Chr5:177388123 [GRCh38]
Chr5:176815124 [GRCh37]
Chr5:5q35.3
benign
NM_000505.3(F12):c.-3G>A single nucleotide variant Factor XII deficiency disease [RCV000333681]|Hereditary angioedema type 3 [RCV000385814] Chr5:177409530 [GRCh38]
Chr5:176836531 [GRCh37]
Chr5:5q35.3
likely benign|uncertain significance
NM_003052.5(SLC34A1):c.-68G>A single nucleotide variant Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV000399336] Chr5:177384467 [GRCh38]
Chr5:176811468 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_003052.5(SLC34A1):c.510C>T (p.Ile170=) single nucleotide variant Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV000318104] Chr5:177386544 [GRCh38]
Chr5:176813545 [GRCh37]
Chr5:5q35.3
benign|likely benign
NM_003052.5(SLC34A1):c.389-5C>T single nucleotide variant Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV000303588]|not provided [RCV000963164] Chr5:177386418 [GRCh38]
Chr5:176813419 [GRCh37]
Chr5:5q35.3
benign|likely benign
NM_000505.3(F12):c.1018+12G>C single nucleotide variant Factor XII deficiency disease [RCV000320036]|Hereditary angioedema type 3 [RCV000374697] Chr5:177404184 [GRCh38]
Chr5:176831185 [GRCh37]
Chr5:5q35.3
benign|likely benign|uncertain significance
NM_003052.5(SLC34A1):c.398C>T (p.Ala133Val) single nucleotide variant Nephrocalcinosis [RCV000662331]|Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV000358499]|not provided [RCV000957594] Chr5:177386432 [GRCh38]
Chr5:176813433 [GRCh37]
Chr5:5q35.3
likely pathogenic|likely benign
NM_000505.3(F12):c.-8C>T single nucleotide variant Factor XII deficiency disease [RCV000287899]|Hereditary angioedema type 3 [RCV000384518] Chr5:177409535 [GRCh38]
Chr5:176836536 [GRCh37]
Chr5:5q35.3
likely benign
NM_003052.5(SLC34A1):c.1348G>A (p.Gly450Ser) single nucleotide variant Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV000290137]|not provided [RCV000414507] Chr5:177397006 [GRCh38]
Chr5:176824007 [GRCh37]
Chr5:5q35.3
benign|likely benign|uncertain significance
NM_003052.5(SLC34A1):c.260-4C>A single nucleotide variant Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV000361980] Chr5:177386217 [GRCh38]
Chr5:176813218 [GRCh37]
Chr5:5q35.3
benign|likely benign
NM_003052.5(SLC34A1):c.1227C>A (p.Gly409=) single nucleotide variant Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV000384331] Chr5:177396785 [GRCh38]
Chr5:176823786 [GRCh37]
Chr5:5q35.3
benign|uncertain significance
NM_003052.5(SLC34A1):c.25G>T (p.Gly9Trp) single nucleotide variant Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV000407795] Chr5:177385766 [GRCh38]
Chr5:176812767 [GRCh37]
Chr5:5q35.3
benign|uncertain significance
NM_003052.5(SLC34A1):c.223C>T (p.Pro75Ser) single nucleotide variant Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV000407796]|not provided [RCV000971522] Chr5:177386100 [GRCh38]
Chr5:176813101 [GRCh37]
Chr5:5q35.3
benign|likely benign
NM_000505.3(F12):c.418C>G (p.Leu140Val) single nucleotide variant Factor XII deficiency disease [RCV000322122]|Hereditary angioedema type 3 [RCV000355853]|not provided [RCV000860986] Chr5:177405165 [GRCh38]
Chr5:176832166 [GRCh37]
Chr5:5q35.3
benign|likely benign
NM_003052.5(SLC34A1):c.260-14C>T single nucleotide variant Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV000307270] Chr5:177386207 [GRCh38]
Chr5:176813208 [GRCh37]
Chr5:5q35.3
benign|likely benign
NM_000505.3(F12):c.928A>T (p.Arg310Trp) single nucleotide variant Factor XII deficiency disease [RCV000400267]|Hereditary angioedema type 3 [RCV000293356] Chr5:177404286 [GRCh38]
Chr5:176831287 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_003052.5(SLC34A1):c.883T>A (p.Ser295Thr) single nucleotide variant Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV000293594] Chr5:177388319 [GRCh38]
Chr5:176815320 [GRCh37]
Chr5:5q35.3
likely benign|uncertain significance
NM_000505.3(F12):c.711C>T (p.Pro237=) single nucleotide variant Factor XII deficiency disease [RCV000308826]|Hereditary angioedema type 3 [RCV000363476] Chr5:177404588 [GRCh38]
Chr5:176831589 [GRCh37]
Chr5:5q35.3
benign
NM_003052.5(SLC34A1):c.1416+5G>A single nucleotide variant Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV000345066] Chr5:177397079 [GRCh38]
Chr5:176824080 [GRCh37]
Chr5:5q35.3
benign|likely benign
NM_003052.5(SLC34A1):c.782G>A (p.Arg261His) single nucleotide variant Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV000387892]|not provided [RCV001214517] Chr5:177388131 [GRCh38]
Chr5:176815132 [GRCh37]
Chr5:5q35.3
benign|likely benign|uncertain significance
NM_000505.3(F12):c.348C>A (p.Gly116=) single nucleotide variant Factor XII deficiency disease [RCV000294965]|Hereditary angioedema type 3 [RCV000373101] Chr5:177405372 [GRCh38]
Chr5:176832373 [GRCh37]
Chr5:5q35.3
benign|likely benign|uncertain significance
NM_003052.5(SLC34A1):c.110-6C>T single nucleotide variant Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV000310328] Chr5:177385981 [GRCh38]
Chr5:176812982 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_003052.5(SLC34A1):c.123C>T (p.Ile41=) single nucleotide variant Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV000347031] Chr5:177386000 [GRCh38]
Chr5:176813001 [GRCh37]
Chr5:5q35.3
likely benign|uncertain significance
NM_000505.3(F12):c.1212C>G (p.Pro404=) single nucleotide variant Factor XII deficiency disease [RCV000311557]|Hereditary angioedema type 3 [RCV000366214] Chr5:177403897 [GRCh38]
Chr5:176830898 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_000505.3(F12):c.756C>T (p.Ala252=) single nucleotide variant Factor XII deficiency disease [RCV000348457]|Hereditary angioedema type 3 [RCV000407996] Chr5:177404543 [GRCh38]
Chr5:176831544 [GRCh37]
Chr5:5q35.3
benign
NM_003052.5(SLC34A1):c.1172C>T (p.Thr391Met) single nucleotide variant Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV000348385] Chr5:177394193 [GRCh38]
Chr5:176821194 [GRCh37]
Chr5:5q35.3
benign|likely benign
NM_000505.3(F12):c.1251-12C>A single nucleotide variant Factor XII deficiency disease [RCV000405436]|Hereditary angioedema type 3 [RCV000370104] Chr5:177403629 [GRCh38]
Chr5:176830630 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_003052.5(SLC34A1):c.1469C>T (p.Pro490Leu) single nucleotide variant Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV000392801]|not provided [RCV001247463] Chr5:177397835 [GRCh38]
Chr5:176824836 [GRCh37]
Chr5:5q35.3
likely benign|uncertain significance
NM_003052.5(SLC34A1):c.-11G>C single nucleotide variant Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV000350474] Chr5:177385731 [GRCh38]
Chr5:176812732 [GRCh37]
Chr5:5q35.3
benign|likely benign
NM_003052.5(SLC34A1):c.654G>A (p.Ala218=) single nucleotide variant Hypercalcemia, infantile, 2 [RCV000505607]|Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV000372766] Chr5:177388003 [GRCh38]
Chr5:176815004 [GRCh37]
Chr5:5q35.3
pathogenic|likely benign
NM_003052.5(SLC34A1):c.*79G>C single nucleotide variant Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV000260883] Chr5:177398365 [GRCh38]
Chr5:176825366 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_003052.5(SLC34A1):c.*392A>G single nucleotide variant Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV000272552] Chr5:177398678 [GRCh38]
Chr5:176825679 [GRCh37]
Chr5:5q35.3
uncertain significance
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3
likely benign
NM_003052.5(SLC34A1):c.1325C>A (p.Pro442Gln) single nucleotide variant not provided [RCV000723087] Chr5:177396983 [GRCh38]
Chr5:176823984 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_000505.3(F12):c.-25G>A single nucleotide variant Factor XII deficiency disease [RCV000392086]|Hereditary angioedema type 3 [RCV000344877] Chr5:177409552 [GRCh38]
Chr5:176836553 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_003052.5(SLC34A1):c.*361T>C single nucleotide variant Factor XII deficiency disease [RCV000312189]|Hereditary angioneurotic edema [RCV000406005]|Nephrolithiasis/osteoporosis, hypophosphatemic [RCV000385590]|Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV001156139] Chr5:177398647 [GRCh38]
Chr5:176825648 [GRCh37]
Chr5:5q35.3
benign|likely benign
NM_000505.3(F12):c.-57G>C single nucleotide variant Factor XII deficiency disease [RCV000317529]|Hereditary angioneurotic edema [RCV000372080] Chr5:177409584 [GRCh38]
Chr5:176836585 [GRCh37]
Chr5:5q35.3
likely benign
NM_003052.5(SLC34A1):c.*323G>A single nucleotide variant Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV000331124] Chr5:177398609 [GRCh38]
Chr5:176825610 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_003052.5(SLC34A1):c.1635C>T (p.Gly545=) single nucleotide variant Factor XII deficiency disease [RCV000326709]|Hereditary angioneurotic edema [RCV000384048]|Nephrolithiasis/osteoporosis, hypophosphatemic [RCV000341697]|Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV001152237]|not provided [RCV000956355] Chr5:177398001 [GRCh38]
Chr5:176825002 [GRCh37]
Chr5:5q35.3
benign
NM_000505.3(F12):c.1272G>C (p.Thr424=) single nucleotide variant Factor XII deficiency disease [RCV000390084]|Hereditary angioedema type 3 [RCV001153637]|Hereditary angioneurotic edema [RCV000339217]|Nephrolithiasis/osteoporosis, hypophosphatemic [RCV000330431]|not provided [RCV000861570] Chr5:177403596 [GRCh38]
Chr5:176830597 [GRCh37]
Chr5:5q35.3
benign|likely benign
NM_000505.3(F12):c.630C>T (p.Asp210=) single nucleotide variant Factor XII deficiency disease [RCV000305424]|Hereditary angioedema type 3 [RCV000407965] Chr5:177404814 [GRCh38]
Chr5:176831815 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_003052.5(SLC34A1):c.-48G>C single nucleotide variant Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV000295538] Chr5:177384487 [GRCh38]
Chr5:176811488 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_003052.5(SLC34A1):c.1483C>T (p.Arg495Cys) single nucleotide variant Factor XII deficiency disease [RCV000269350]|Hereditary angioneurotic edema [RCV000389488]|Nephrolithiasis/osteoporosis, hypophosphatemic [RCV000305499]|Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV001152236] Chr5:177397849 [GRCh38]
Chr5:176824850 [GRCh37]
Chr5:5q35.3
benign|likely benign
NM_000505.3(F12):c.1299C>T (p.Asn433=) single nucleotide variant Factor XII deficiency disease [RCV000284138]|Hereditary angioedema type 3 [RCV001152355]|Hereditary angioneurotic edema [RCV000378378]|Nephrolithiasis/osteoporosis, hypophosphatemic [RCV000275367]|not provided [RCV000861740] Chr5:177403569 [GRCh38]
Chr5:176830570 [GRCh37]
Chr5:5q35.3
benign|likely benign
NM_003052.5(SLC34A1):c.*485G>A single nucleotide variant Factor XII deficiency disease [RCV000369193]|Hereditary angioneurotic edema [RCV000276999]|Nephrolithiasis/osteoporosis, hypophosphatemic [RCV000327698]|Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV001157825] Chr5:177398771 [GRCh38]
Chr5:176825772 [GRCh37]
Chr5:5q35.3
benign|likely benign
NM_003052.5(SLC34A1):c.*60G>A single nucleotide variant Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV000356949] Chr5:177398346 [GRCh38]
Chr5:176825347 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_000505.3(F12):c.1251-7C>T single nucleotide variant Factor XII deficiency disease [RCV000280606]|Hereditary angioedema type 3 [RCV001153638]|Hereditary angioneurotic edema [RCV000336347]|Nephrolithiasis/osteoporosis, hypophosphatemic [RCV000357198] Chr5:177403624 [GRCh38]
Chr5:176830625 [GRCh37]
Chr5:5q35.3
likely benign
NM_003052.5(SLC34A1):c.1719A>G (p.Leu573=) single nucleotide variant Factor XII deficiency disease [RCV000286248]|Hereditary angioneurotic edema [RCV000378335]|Nephrolithiasis/osteoporosis, hypophosphatemic [RCV000302184]|Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV001152239] Chr5:177398085 [GRCh38]
Chr5:176825086 [GRCh37]
Chr5:5q35.3
benign|likely benign
NM_000505.3(F12):c.-62C>T single nucleotide variant Factor XII deficiency disease [RCV000286884]|Hereditary angioneurotic edema [RCV000323254] Chr5:177409589 [GRCh38]
Chr5:176836590 [GRCh37]
Chr5:5q35.3
likely benign
NM_000505.3(F12):c.1342C>T (p.Arg448Cys) single nucleotide variant Factor XII deficiency disease [RCV000342441]|Hereditary angioedema type 3 [RCV001152354]|Hereditary angioneurotic edema [RCV000287521]|Nephrolithiasis/osteoporosis, hypophosphatemic [RCV000363488] Chr5:177403526 [GRCh38]
Chr5:176830527 [GRCh37]
Chr5:5q35.3
benign|likely benign
NM_003052.5(SLC34A1):c.1702C>T (p.His568Tyr) single nucleotide variant Factor XII deficiency disease [RCV000340024]|Hereditary angioneurotic edema [RCV000292092]|Nephrolithiasis/osteoporosis, hypophosphatemic [RCV000392789]|Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV001152238] Chr5:177398068 [GRCh38]
Chr5:176825069 [GRCh37]
Chr5:5q35.3
benign|likely benign
NM_003052.5(SLC34A1):c.*179G>A single nucleotide variant Factor XII deficiency disease [RCV000402942]|Hereditary angioneurotic edema [RCV000343493]|Nephrolithiasis/osteoporosis, hypophosphatemic [RCV000297393]|Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV001153521] Chr5:177398465 [GRCh38]
Chr5:176825466 [GRCh37]
Chr5:5q35.3
benign|likely benign
NM_003052.5(SLC34A1):c.*202A>C single nucleotide variant Factor XII deficiency disease [RCV000299097]|Hereditary angioneurotic edema [RCV000337844]|Nephrolithiasis/osteoporosis, hypophosphatemic [RCV000370669]|Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV001153523] Chr5:177398488 [GRCh38]
Chr5:176825489 [GRCh37]
Chr5:5q35.3
benign
NM_000505.4(F12):c.957G>C (p.Gln319His) single nucleotide variant Factor XII deficiency disease [RCV001152453]|Hereditary angioedema type 3 [RCV001152452] Chr5:177404257 [GRCh38]
Chr5:176831258 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_003052.5(SLC34A1):c.94G>A (p.Val32Met) single nucleotide variant Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV001152137] Chr5:177385835 [GRCh38]
Chr5:176812836 [GRCh37]
Chr5:5q35.3
uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:174990352-180690937) copy number gain not provided [RCV000767711] Chr5:174990352..180690937 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
NM_000505.4(F12):c.129C>T (p.Thr43=) single nucleotide variant Factor XII deficiency disease [RCV001158013]|Hereditary angioedema type 3 [RCV001152534] Chr5:177406048 [GRCh38]
Chr5:176833049 [GRCh37]
Chr5:5q35.3
likely benign|uncertain significance
NM_003052.5(SLC34A1):c.1363G>A (p.Ala455Thr) single nucleotide variant not provided [RCV000722753] Chr5:177397021 [GRCh38]
Chr5:176824022 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_003052.5(SLC34A1):c.604G>A (p.Val202Met) single nucleotide variant Hypercalcemia, infantile, 2 [RCV000505563]|Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV001156015] Chr5:177387833 [GRCh38]
Chr5:176814834 [GRCh37]
Chr5:5q35.3
likely pathogenic|benign
GRCh37/hg19 5q35.2-35.3(chr5:176274007-180719789)x1 copy number loss See cases [RCV000447018] Chr5:176274007..180719789 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175722788-177423091)x3 copy number gain See cases [RCV000445774] Chr5:175722788..177423091 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:176505173-178230923)x1 copy number loss See cases [RCV000445817] Chr5:176505173..178230923 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174427052-180719789)x1 copy number loss See cases [RCV000448611] Chr5:174427052..180719789 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175601473-180100378)x1 copy number loss See cases [RCV000448793] Chr5:175601473..180100378 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3
pathogenic
GRCh37/hg19 5q35.1-35.3(chr5:171396359-180719789)x3 copy number gain See cases [RCV000448458] Chr5:171396359..180719789 [GRCh37]
Chr5:5q35.1-35.3
pathogenic
NM_000505.3(F12):c.894_911dup (p.Gln300_Thr305dup) duplication Hereditary angioedema type 3 [RCV000456124] Chr5:177404302..177404303 [GRCh38]
Chr5:176831303..176831304 [GRCh37]
Chr5:5q35.3
pathogenic
NM_003052.5(SLC34A1):c.73C>T (p.Arg25Ter) single nucleotide variant not provided [RCV000483521] Chr5:177385814 [GRCh38]
Chr5:176812815 [GRCh37]
Chr5:5q35.3
likely pathogenic
GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3 copy number gain See cases [RCV000512068] Chr5:172031248..180719789 [GRCh37]
Chr5:5q35.1-35.3
pathogenic
NM_003052.5(SLC34A1):c.934C>T (p.Gln312Ter) single nucleotide variant Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV000503372] Chr5:177388370 [GRCh38]
Chr5:176815371 [GRCh37]
Chr5:5q35.3
pathogenic|uncertain significance
NM_000505.3(F12):c.971_1018+24del deletion Hereditary angioedema type 3 [RCV000510138] Chr5:177404172..177404243 [GRCh38]
Chr5:176831173..176831244 [GRCh37]
Chr5:5q35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175438045-177392885)x1 copy number loss See cases [RCV000511974] Chr5:175438045..177392885 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
NM_003052.5(SLC34A1):c.713A>C (p.Glu238Ala) single nucleotide variant Hypercalcemia, infantile, 2 [RCV000505687] Chr5:177388062 [GRCh38]
Chr5:176815063 [GRCh37]
Chr5:5q35.3
likely pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175570677-177439550)x3 copy number gain See cases [RCV000511393] Chr5:175570677..177439550 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175570677-180719789)x1 copy number loss See cases [RCV000510785] Chr5:175570677..180719789 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
Single allele duplication not provided [RCV000768450] Chr5:175843728..180703728 [GRCh37]
Chr5:5q35.2-35.3
likely pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175570678-177437340)x1 copy number loss See cases [RCV000512405] Chr5:175570678..177437340 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
Single allele duplication not provided [RCV000677989] Chr5:176798338..177423150 [GRCh37]
Chr5:5q35.3
uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:175438045-177481250)x1 copy number loss not provided [RCV000682614] Chr5:175438045..177481250 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175570677-177436413)x1 copy number loss not provided [RCV000682615] Chr5:175570677..177436413 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:176044976-177023859)x1 copy number loss not provided [RCV000682618] Chr5:176044976..177023859 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5q33.2-35.3(chr5:155344802-180693344)x3 copy number gain not provided [RCV000745284] Chr5:155344802..180693344 [GRCh37]
Chr5:5q33.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174832617-180693344)x3 copy number gain not provided [RCV000745336] Chr5:174832617..180693344 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175346223-177423236)x1 copy number loss not provided [RCV000745338] Chr5:175346223..177423236 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175433876-177441189)x1 copy number loss not provided [RCV000745339] Chr5:175433876..177441189 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
NM_003052.5(SLC34A1):c.1708C>A (p.Pro570Thr) single nucleotide variant Hypercalcemia, infantile, 2 [RCV000786878] Chr5:177398074 [GRCh38]
Chr5:176825075 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_003052.5(SLC34A1):c.156_175delinsA (p.Gly53fs) indel Osteogenesis imperfecta type III [RCV000860017] Chr5:177386033..177386052 [GRCh38]
Chr5:176813034..176813053 [GRCh37]
Chr5:5q35.3
likely pathogenic
NM_003052.5(SLC34A1):c.652G>A (p.Ala218Thr) single nucleotide variant not provided [RCV000903947] Chr5:177388001 [GRCh38]
Chr5:176815002 [GRCh37]
Chr5:5q35.3
benign
NM_003052.5(SLC34A1):c.1038G>A (p.Pro346=) single nucleotide variant not provided [RCV000924664] Chr5:177394059 [GRCh38]
Chr5:176821060 [GRCh37]
Chr5:5q35.3
likely benign
NM_003052.5(SLC34A1):c.388+10G>C single nucleotide variant Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV001153418]|not provided [RCV000961682] Chr5:177386359 [GRCh38]
Chr5:176813360 [GRCh37]
Chr5:5q35.3
benign
NM_000505.3(F12):c.800+8G>A single nucleotide variant not provided [RCV000861857] Chr5:177404491 [GRCh38]
Chr5:176831492 [GRCh37]
Chr5:5q35.3
benign
GRCh37/hg19 5q35.2-35.3(chr5:176305543-177422876) copy number gain not provided [RCV000767712] Chr5:176305543..177422876 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.3(chr5:176732536-177260046)x1 copy number loss not provided [RCV000845642] Chr5:176732536..177260046 [GRCh37]
Chr5:5q35.3
uncertain significance
Single allele deletion Marfanoid habitus and intellectual disability [RCV000851176] Chr5:175875407..177036017 [GRCh37]
Chr5:5q35.2-35.3
likely pathogenic
GRCh37/hg19 5q35.3(chr5:176774402-177064884)x4 copy number gain not provided [RCV000848335] Chr5:176774402..177064884 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_000505.3(F12):c.1768T>A (p.Cys590Ser) single nucleotide variant FACTOR XII (WASHINGTON D.C.) [RCV000001223] Chr5:177402372 [GRCh38]
Chr5:176829373 [GRCh37]
Chr5:5q35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175570677-177439550)x3 copy number gain not provided [RCV000846148] Chr5:175570677..177439550 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.3(chr5:176643613-179085551)x3 copy number gain not provided [RCV000846590] Chr5:176643613..179085551 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_000505.4(F12):c.120C>T (p.Leu40=) single nucleotide variant Factor XII deficiency disease [RCV001152535]|Hereditary angioedema type 3 [RCV001152536] Chr5:177406057 [GRCh38]
Chr5:176833058 [GRCh37]
Chr5:5q35.3
benign|uncertain significance
NM_003052.5(SLC34A1):c.74G>A (p.Arg25Gln) single nucleotide variant Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV001152136] Chr5:177385815 [GRCh38]
Chr5:176812816 [GRCh37]
Chr5:5q35.3
benign
NM_000505.4(F12):c.1704G>A (p.Val568=) single nucleotide variant Factor XII deficiency disease [RCV001152350]|Hereditary angioedema type 3 [RCV001152351] Chr5:177402436 [GRCh38]
Chr5:176829437 [GRCh37]
Chr5:5q35.3
benign|uncertain significance
NM_000505.4(F12):c.1387+4C>G single nucleotide variant Factor XII deficiency disease [RCV001152352]|Hereditary angioedema type 3 [RCV001152353] Chr5:177403477 [GRCh38]
Chr5:176830478 [GRCh37]
Chr5:5q35.3
likely benign|uncertain significance
NM_003052.5(SLC34A1):c.1700G>A (p.Gly567Glu) single nucleotide variant not provided [RCV001220440] Chr5:177398066 [GRCh38]
Chr5:176825067 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_003052.5(SLC34A1):c.645G>A (p.Arg215=) single nucleotide variant not provided [RCV001209732] Chr5:177387994 [GRCh38]
Chr5:176814995 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_003052.5(SLC34A1):c.1624G>A (p.Val542Ile) single nucleotide variant not provided [RCV001235500] Chr5:177397990 [GRCh38]
Chr5:176824991 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_003052.5(SLC34A1):c.397G>A (p.Ala133Thr) single nucleotide variant Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV001153419] Chr5:177386431 [GRCh38]
Chr5:176813432 [GRCh37]
Chr5:5q35.3
likely benign
NM_003052.5(SLC34A1):c.*212G>T single nucleotide variant Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV001153524] Chr5:177398498 [GRCh38]
Chr5:176825499 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_003052.5(SLC34A1):c.745C>T (p.Arg249Ter) single nucleotide variant Autosomal recessive infantile hypercalcemia [RCV001195304] Chr5:177388094 [GRCh38]
Chr5:176815095 [GRCh37]
Chr5:5q35.3
likely pathogenic
NM_000505.4(F12):c.293G>A (p.Cys98Tyr) single nucleotide variant Factor XII deficiency disease [RCV001158008]|Hereditary angioedema type 3 [RCV001158009] Chr5:177405427 [GRCh38]
Chr5:176832428 [GRCh37]
Chr5:5q35.3
likely benign|uncertain significance
NM_000505.3(F12):c.144C>T (p.His48=) single nucleotide variant not provided [RCV000940749] Chr5:177406033 [GRCh38]
Chr5:176833034 [GRCh37]
Chr5:5q35.3
likely benign
NM_003052.5(SLC34A1):c.388+9C>T single nucleotide variant not provided [RCV000896310] Chr5:177386358 [GRCh38]
Chr5:176813359 [GRCh37]
Chr5:5q35.3
likely benign
NM_003052.5(SLC34A1):c.438G>A (p.Pro146=) single nucleotide variant not provided [RCV000894550] Chr5:177386472 [GRCh38]
Chr5:176813473 [GRCh37]
Chr5:5q35.3
likely benign
NM_000505.3(F12):c.757G>C (p.Glu253Gln) single nucleotide variant not provided [RCV000862881] Chr5:177404542 [GRCh38]
Chr5:176831543 [GRCh37]
Chr5:5q35.3
likely benign
NM_003052.5(SLC34A1):c.708C>T (p.Pro236=) single nucleotide variant not provided [RCV000907442] Chr5:177388057 [GRCh38]
Chr5:176815058 [GRCh37]
Chr5:5q35.3
likely benign
NM_003052.5(SLC34A1):c.1407C>T (p.Ser469=) single nucleotide variant not provided [RCV000907443] Chr5:177397065 [GRCh38]
Chr5:176824066 [GRCh37]
Chr5:5q35.3
likely benign
NM_003052.5(SLC34A1):c.621G>A (p.Ala207=) single nucleotide variant not provided [RCV000908985] Chr5:177387850 [GRCh38]
Chr5:176814851 [GRCh37]
Chr5:5q35.3
likely benign
NM_000505.4(F12):c.286+6A>G single nucleotide variant Factor XII deficiency disease [RCV001158010]|Hereditary angioedema type 3 [RCV001158011] Chr5:177405729 [GRCh38]
Chr5:176832730 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_003052.5(SLC34A1):c.*196C>T single nucleotide variant Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV001153522] Chr5:177398482 [GRCh38]
Chr5:176825483 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_000505.4(F12):c.1251-9C>A single nucleotide variant Factor XII deficiency disease [RCV001156237]|Hereditary angioedema type 3 [RCV001153640] Chr5:177403626 [GRCh38]
Chr5:176830627 [GRCh37]
Chr5:5q35.3
benign|uncertain significance
NM_003052.5(SLC34A1):c.909G>T (p.Gln303His) single nucleotide variant not provided [RCV001222094] Chr5:177388345 [GRCh38]
Chr5:176815346 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_003052.5(SLC34A1):c.464T>C (p.Leu155Pro) single nucleotide variant not provided [RCV001092137] Chr5:177386498 [GRCh38]
Chr5:176813499 [GRCh37]
Chr5:5q35.3
pathogenic
NM_003052.5(SLC34A1):c.1443C>T (p.Asn481=) single nucleotide variant Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV001152234] Chr5:177397809 [GRCh38]
Chr5:176824810 [GRCh37]
Chr5:5q35.3
likely benign
NM_000505.4(F12):c.*9G>A single nucleotide variant Factor XII deficiency disease [RCV001157829]|Hereditary angioedema type 3 [RCV001152349] Chr5:177402283 [GRCh38]
Chr5:176829284 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_003052.5(SLC34A1):c.*331A>G single nucleotide variant Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV001156138] Chr5:177398617 [GRCh38]
Chr5:176825618 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_003052.5(SLC34A1):c.1485C>A (p.Arg495=) single nucleotide variant not provided [RCV000913299] Chr5:177397851 [GRCh38]
Chr5:176824852 [GRCh37]
Chr5:5q35.3
likely benign
NM_000505.4(F12):c.530C>T (p.Ala177Val) single nucleotide variant Hereditary angioedema type 3 [RCV001263429] Chr5:177404914 [GRCh38]
Chr5:176831915 [GRCh37]
Chr5:5q35.3
benign
NM_000505.4(F12):c.1530G>C (p.Glu510Asp) single nucleotide variant Hereditary angioedema type 3 [RCV001263430] Chr5:177403255 [GRCh38]
Chr5:176830256 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_000505.4(F12):c.41T>C (p.Leu14Ser) single nucleotide variant Hereditary angioedema type 3 [RCV001263432] Chr5:177409487 [GRCh38]
Chr5:176836488 [GRCh37]
Chr5:5q35.3
likely benign
NM_003052.5(SLC34A1):c.909G>C (p.Gln303His) single nucleotide variant Fanconi renotubular syndrome 2 [RCV001263476] Chr5:177388345 [GRCh38]
Chr5:176815346 [GRCh37]
Chr5:5q35.3
uncertain significance
GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3 copy number gain 5q35 microduplication syndrome [RCV001263227] Chr5:170805664..180719789 [GRCh37]
Chr5:5q35.1-35.3
pathogenic
NM_003052.5(SLC34A1):c.1103T>C (p.Leu368Pro) single nucleotide variant not provided [RCV001245762] Chr5:177394124 [GRCh38]
Chr5:176821125 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_003052.5(SLC34A1):c.*431C>T single nucleotide variant Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV001157824] Chr5:177398717 [GRCh38]
Chr5:176825718 [GRCh37]
Chr5:5q35.3
benign
NM_000505.4(F12):c.*86C>T single nucleotide variant Factor XII deficiency disease [RCV001157828]|Hereditary angioedema type 3 [RCV001157827] Chr5:177402206 [GRCh38]
Chr5:176829207 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_003052.5(SLC34A1):c.1174+9C>T single nucleotide variant Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV001157729] Chr5:177394204 [GRCh38]
Chr5:176821205 [GRCh37]
Chr5:5q35.3
likely benign
NM_003052.5(SLC34A1):c.*52C>T single nucleotide variant Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV001152240] Chr5:177398338 [GRCh38]
Chr5:176825339 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_000505.4(F12):c.30G>A (p.Leu10=) single nucleotide variant Factor XII deficiency disease [RCV001152537]|Hereditary angioedema type 3 [RCV001152538] Chr5:177409498 [GRCh38]
Chr5:176836499 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_003052.5(SLC34A1):c.315A>C (p.Pro105=) single nucleotide variant Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV001153417] Chr5:177386276 [GRCh38]
Chr5:176813277 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_003052.5(SLC34A1):c.*65G>A single nucleotide variant Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV001153520] Chr5:177398351 [GRCh38]
Chr5:176825352 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_003052.5(SLC34A1):c.*241C>T single nucleotide variant Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV001156135] Chr5:177398527 [GRCh38]
Chr5:176825528 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_003052.5(SLC34A1):c.1466A>G (p.Tyr489Cys) single nucleotide variant Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV001152235] Chr5:177397832 [GRCh38]
Chr5:176824833 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_000505.4(F12):c.1018+11G>T single nucleotide variant Factor XII deficiency disease [RCV001152451]|Hereditary angioedema type 3 [RCV001152450] Chr5:177404185 [GRCh38]
Chr5:176831186 [GRCh37]
Chr5:5q35.3
benign|uncertain significance
NM_003052.5(SLC34A1):c.1416+3G>A single nucleotide variant not provided [RCV001066468] Chr5:177397077 [GRCh38]
Chr5:176824078 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_003052.5(SLC34A1):c.*301T>C single nucleotide variant Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV001156136] Chr5:177398587 [GRCh38]
Chr5:176825588 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_003052.5(SLC34A1):c.*315C>T single nucleotide variant Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV001156137] Chr5:177398601 [GRCh38]
Chr5:176825602 [GRCh37]
Chr5:5q35.3
benign
NM_000505.4(F12):c.1142G>A (p.Arg381His) single nucleotide variant Factor XII deficiency disease [RCV001156239]|Hereditary angioedema type 3 [RCV001156238] Chr5:177403967 [GRCh38]
Chr5:176830968 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_000505.4(F12):c.1018+14G>T single nucleotide variant Factor XII deficiency disease [RCV001157916]|Hereditary angioedema type 3 [RCV001157915] Chr5:177404182 [GRCh38]
Chr5:176831183 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_003052.5(SLC34A1):c.644G>A (p.Arg215Gln) single nucleotide variant Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV001156016] Chr5:177387873 [GRCh38]
Chr5:176814874 [GRCh37]
Chr5:5q35.3
likely benign
NM_003052.5(SLC34A1):c.*406C>T single nucleotide variant Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV001157823] Chr5:177398692 [GRCh38]
Chr5:176825693 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_003052.5(SLC34A1):c.*505C>T single nucleotide variant Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV001157826] Chr5:177398791 [GRCh38]
Chr5:176825792 [GRCh37]
Chr5:5q35.3
uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:175346695-177469711)x1 copy number loss Sotos syndrome [RCV001252953] Chr5:175346695..177469711 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
NM_003052.5(SLC34A1):c.454_480dup (p.Val152_Val160dup) duplication Hypercalcemia, infantile, 2 [RCV001251504] Chr5:177386480..177386481 [GRCh38]
Chr5:176813481..176813482 [GRCh37]
Chr5:5q35.3
likely pathogenic|uncertain significance
NM_000505.4(F12):c.1768T>G (p.Cys590Gly) single nucleotide variant Hereditary angioedema type 3 [RCV001263431] Chr5:177402372 [GRCh38]
Chr5:176829373 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_000505.4(F12):c.1599A>G (p.Ser533=) single nucleotide variant Hereditary angioedema type 3 [RCV001263433] Chr5:177402631 [GRCh38]
Chr5:176829632 [GRCh37]
Chr5:5q35.3
uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:175394616-177436413)x3 copy number gain not provided [RCV001258713] Chr5:175394616..177436413 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175570677-177114151)x3 copy number gain not provided [RCV001258712] Chr5:175570677..177114151 [GRCh37]
Chr5:5q35.2-35.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11019 AgrOrtholog
COSMIC SLC34A1 COSMIC
Ensembl Genes ENSG00000131183 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000321424 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000423022 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000423733 UniProtKB/TrEMBL
Ensembl Transcript ENST00000324417 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000504577 UniProtKB/TrEMBL
  ENST00000512593 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000131183 GTEx
HGNC ID HGNC:11019 ENTREZGENE
Human Proteome Map SLC34A1 Human Proteome Map
InterPro Na/Pi_transpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Na/Pi_transpt_2A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6569 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6569 ENTREZGENE
OMIM 182309 OMIM
  612286 OMIM
  613388 OMIM
  616963 OMIM
PANTHER PTHR10010 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10010:SF21 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Na_Pi_cotrans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35887 PharmGKB
TIGRFAMs 2a58 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R7R9 ENTREZGENE, UniProtKB/TrEMBL
  D6RCE5_HUMAN UniProtKB/TrEMBL
  NPT2A_HUMAN UniProtKB/Swiss-Prot
  Q05BP0_HUMAN UniProtKB/TrEMBL
  Q06495 ENTREZGENE
  Q7Z725 ENTREZGENE, UniProtKB/TrEMBL
  Q86VN6 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B4DPE3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 SLC34A1  solute carrier family 34 member 1    solute carrier family 34 (type II sodium/phosphate cotransporter), member 1  Symbol and/or name change 5135510 APPROVED
2014-11-26 SLC34A1  solute carrier family 34 (type II sodium/phosphate cotransporter), member 1    solute carrier family 34 (type II sodium/phosphate contransporter), member 1  Symbol and/or name change 5135510 APPROVED
2013-07-23 SLC34A1  solute carrier family 34 (type II sodium/phosphate contransporter), member 1    solute carrier family 34 (sodium phosphate), member 1  Symbol and/or name change 5135510 APPROVED