STX16-NPEPL1 (STX16-NPEPL1 readthrough (NMD candidate)) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: STX16-NPEPL1 (STX16-NPEPL1 readthrough (NMD candidate)) Homo sapiens
Analyze
No known orthologs.
Symbol: STX16-NPEPL1
Name: STX16-NPEPL1 readthrough (NMD candidate)
RGD ID: 5133079
HGNC Page HGNC:41993
Description: Predicted to enable SNAP receptor activity. Predicted to be involved in intracellular protein transport; membrane fusion; and vesicle-mediated transport. Predicted to be located in membrane.
Type: ncrna (Ensembl: protein-coding)
RefSeq Status: VALIDATED
RGD Orthologs
Alliance Genes
More Info homologs ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382058,651,253 - 58,715,844 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2058,651,434 - 58,715,410 (+)EnsemblGRCh38hg38GRCh38
GRCh372057,226,309 - 57,290,900 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map20q13.32NCBI
HuRef2054,010,737 - 54,077,009 (+)NCBIHuRef
CHM1_12057,127,816 - 57,192,579 (+)NCBICHM1_1
T2T-CHM13v2.02060,433,317 - 60,498,449 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:20967262   PMID:26760575   PMID:29117863   PMID:36215168  


Genomics

Variants

.
Variants in STX16-NPEPL1
193 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NR_037945.1(STX16-NPEPL1):n.1628-4080G>C single nucleotide variant Lung cancer [RCV000101694] Chr20:58686954 [GRCh38]
Chr20:57262010 [GRCh37]
Chr20:20q13.32
uncertain significance
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33
pathogenic
GRCh38/hg38 20q13.2-13.33(chr20:55630597-60941207)x3 copy number gain See cases [RCV000135622] Chr20:55630597..60941207 [GRCh38]
Chr20:54220678..59516263 [GRCh37]
Chr20:53639062..58949658 [NCBI36]
Chr20:20q13.2-13.33
likely pathogenic
GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3 copy number gain See cases [RCV000138035] Chr20:56198032..64277321 [GRCh38]
Chr20:54773088..62908674 [GRCh37]
Chr20:54206495..62379118 [NCBI36]
Chr20:20q13.2-13.33
pathogenic
GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3 copy number gain See cases [RCV000141347] Chr20:57229415..64273089 [GRCh38]
Chr20:55804471..62904442 [GRCh37]
Chr20:55237878..62374886 [NCBI36]
Chr20:20q13.31-13.33
pathogenic
GRCh38/hg38 20q13.32(chr20:58630473-58881669)x3 copy number gain See cases [RCV000141642] Chr20:58630473..58881669 [GRCh38]
Chr20:57205529..57456724 [GRCh37]
Chr20:56638935..56890119 [NCBI36]
Chr20:20q13.32
uncertain significance
GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3 copy number gain See cases [RCV000143584] Chr20:53236165..64284202 [GRCh38]
Chr20:51852704..62915555 [GRCh37]
Chr20:51286111..62385999 [NCBI36]
Chr20:20q13.2-13.33
likely pathogenic
GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3 copy number gain See cases [RCV000053035] Chr20:44787704..64277321 [GRCh38]
Chr20:43416345..62908674 [GRCh37]
Chr20:42849759..62379118 [NCBI36]
Chr20:20q13.12-13.33
pathogenic
NM_001001433.3(STX16):c.716A>G (p.Glu239Gly) single nucleotide variant Inborn genetic diseases [RCV002520027]|Pseudohypoparathyroidism type 1B [RCV000291165]|not provided [RCV002523170] Chr20:58671221 [GRCh38]
Chr20:57246277 [GRCh37]
Chr20:20q13.32
likely benign|uncertain significance
NM_001001433.3(STX16):c.*1797C>G single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000274184] Chr20:58678088 [GRCh38]
Chr20:57253144 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_001001433.3(STX16):c.569G>A (p.Arg190Gln) single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000292251]|not provided [RCV000958096] Chr20:58670524 [GRCh38]
Chr20:57245580 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_001001433.3(STX16):c.*2293G>A single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000279185] Chr20:58678584 [GRCh38]
Chr20:57253640 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_001001433.3(STX16):c.217C>T (p.Arg73Trp) single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000262733] Chr20:58667562 [GRCh38]
Chr20:57242618 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_001001433.3(STX16):c.456G>T (p.Glu152Asp) single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000280288]|not provided [RCV000893064]|not specified [RCV000499786] Chr20:58669353 [GRCh38]
Chr20:57244409 [GRCh37]
Chr20:20q13.32
benign|likely benign|uncertain significance
NM_001001433.3(STX16):c.*2962C>T single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000319835] Chr20:58679253 [GRCh38]
Chr20:57254309 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_001001433.3(STX16):c.*1378A>T single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000341743] Chr20:58677669 [GRCh38]
Chr20:57252725 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.*2885C>T single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000354854] Chr20:58679176 [GRCh38]
Chr20:57254232 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_001001433.3(STX16):c.*173C>G single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000355915] Chr20:58676464 [GRCh38]
Chr20:57251520 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.132+15G>A single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000321261]|not provided [RCV002523169] Chr20:58652153 [GRCh38]
Chr20:57227209 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_001001433.3(STX16):c.*1049G>A single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000271521] Chr20:58677340 [GRCh38]
Chr20:57252396 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_001001433.3(STX16):c.*2365A>T single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000309865] Chr20:58678656 [GRCh38]
Chr20:57253712 [GRCh37]
Chr20:20q13.32
benign
NM_001001433.3(STX16):c.141C>T (p.Asp47=) single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000359761]|not provided [RCV000960991] Chr20:58659631 [GRCh38]
Chr20:57234687 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_001001433.3(STX16):c.-63T>C single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000360413] Chr20:58651944 [GRCh38]
Chr20:57227000 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_001001433.3(STX16):c.*2896A>G single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000259945] Chr20:58679187 [GRCh38]
Chr20:57254243 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.-673C>G single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000281742] Chr20:58651334 [GRCh38]
Chr20:57226390 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.*1899C>T single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000272951] Chr20:58678190 [GRCh38]
Chr20:57253246 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_001001433.3(STX16):c.*1863C>A single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000312898] Chr20:58678154 [GRCh38]
Chr20:57253210 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_001001433.3(STX16):c.*1785A>G single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000313463] Chr20:58678076 [GRCh38]
Chr20:57253132 [GRCh37]
Chr20:20q13.32
benign
NM_001001433.3(STX16):c.-355C>T single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000366315] Chr20:58651652 [GRCh38]
Chr20:57226708 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_001001433.3(STX16):c.*2183G>A single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000319038] Chr20:58678474 [GRCh38]
Chr20:57253530 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_001001433.3(STX16):c.394-7C>T single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000319973] Chr20:58669284 [GRCh38]
Chr20:57244340 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_001001433.3(STX16):c.*1790A>T single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000370509] Chr20:58678081 [GRCh38]
Chr20:57253137 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_001001433.3(STX16):c.-693G>A single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000373969] Chr20:58651314 [GRCh38]
Chr20:57226370 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.443G>A (p.Arg148Gln) single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000372356]|not provided [RCV001675837] Chr20:58669340 [GRCh38]
Chr20:57244396 [GRCh37]
Chr20:20q13.32
benign
NM_001001433.3(STX16):c.-160G>A single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000307996] Chr20:58651847 [GRCh38]
Chr20:57226903 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_001001433.3(STX16):c.*2347_*2348insAAA insertion Autosomal dominant pseudohypoaldosteronism type 1 [RCV000401194] Chr20:58678638..58678639 [GRCh38]
Chr20:57253694..57253695 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.2(STX16):c.-744T>C single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000282745] Chr20:58651263 [GRCh38]
Chr20:57226319 [GRCh37]
Chr20:20q13.32
benign
NM_001001433.3(STX16):c.*1547C>G single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000282808] Chr20:58677838 [GRCh38]
Chr20:57252894 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.*2627G>C single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000323420] Chr20:58678918 [GRCh38]
Chr20:57253974 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_001001433.3(STX16):c.*2060T>C single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000324452] Chr20:58678351 [GRCh38]
Chr20:57253407 [GRCh37]
Chr20:20q13.32
benign
NM_001001433.3(STX16):c.*2199C>T single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000376010] Chr20:58678490 [GRCh38]
Chr20:57253546 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_001001433.3(STX16):c.*2080G>A single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000377104] Chr20:58678371 [GRCh38]
Chr20:57253427 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_001001433.3(STX16):c.*1928C>T single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000325558] Chr20:58678219 [GRCh38]
Chr20:57253275 [GRCh37]
Chr20:20q13.32
benign
NM_001001433.3(STX16):c.540G>A (p.Gln180=) single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000332957]|not provided [RCV001538570] Chr20:58669437 [GRCh38]
Chr20:57244493 [GRCh37]
Chr20:20q13.32
benign
NM_001001433.3(STX16):c.*1488A>C single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000379967] Chr20:58677779 [GRCh38]
Chr20:57252835 [GRCh37]
Chr20:20q13.32
likely benign|uncertain significance
NM_001001433.3(STX16):c.-550G>A single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000334544] Chr20:58651457 [GRCh38]
Chr20:57226513 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_001001433.3(STX16):c.*441C>G single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000276364] Chr20:58676732 [GRCh38]
Chr20:57251788 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.*2016G>T single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000382526] Chr20:58678307 [GRCh38]
Chr20:57253363 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.-350C>A single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000392989] Chr20:58651657 [GRCh38]
Chr20:57226713 [GRCh37]
Chr20:20q13.32
benign
NM_001001433.3(STX16):c.*70G>A single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000391193] Chr20:58676361 [GRCh38]
Chr20:57251417 [GRCh37]
Chr20:20q13.32
benign
NM_001001433.3(STX16):c.*2363_*2366dup duplication Autosomal dominant pseudohypoaldosteronism type 1 [RCV000393086] Chr20:58678639..58678640 [GRCh38]
Chr20:57253695..57253696 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.644A>T (p.His215Leu) single nucleotide variant Inborn genetic diseases [RCV002520025]|Pseudohypoparathyroidism type 1B [RCV000398773]|not provided [RCV002520026] Chr20:58670599 [GRCh38]
Chr20:57245655 [GRCh37]
Chr20:20q13.32
benign|likely benign|uncertain significance
NM_001001433.3(STX16):c.*1652G>A single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000399462] Chr20:58677943 [GRCh38]
Chr20:57252999 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_001001433.3(STX16):c.*2543G>C single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000361149] Chr20:58678834 [GRCh38]
Chr20:57253890 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_001001433.3(STX16):c.*183G>T single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000263427]|not provided [RCV001613111] Chr20:58676474 [GRCh38]
Chr20:57251530 [GRCh37]
Chr20:20q13.32
benign
NM_001001433.3(STX16):c.*1725A>T single nucleotide variant Autosomal dominant pseudohypoaldosteronism type 1 [RCV000300454] Chr20:58678016 [GRCh38]
Chr20:57253072 [GRCh37]
Chr20:20q13.32
likely benign
NM_001001433.3(STX16):c.-534C>G single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000401873] Chr20:58651473 [GRCh38]
Chr20:57226529 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_001001433.3(STX16):c.*114C>T single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000303498] Chr20:58676405 [GRCh38]
Chr20:57251461 [GRCh37]
Chr20:20q13.32
likely benign|uncertain significance
NM_001001433.3(STX16):c.585G>A (p.Gln195=) single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000349407]|not provided [RCV000882418] Chr20:58670540 [GRCh38]
Chr20:57245596 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_001001433.3(STX16):c.-464G>A single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000349157]|not provided [RCV003430865] Chr20:58651543 [GRCh38]
Chr20:57226599 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_001001433.3(STX16):c.*2364_*2366dup duplication Autosomal dominant pseudohypoaldosteronism type 1 [RCV000349488] Chr20:58678639..58678640 [GRCh38]
Chr20:57253695..57253696 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.*2594T>C single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000268338] Chr20:58678885 [GRCh38]
Chr20:57253941 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.*1581G>C single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000340213] Chr20:58677872 [GRCh38]
Chr20:57252928 [GRCh37]
Chr20:20q13.32
benign
NM_001001433.3(STX16):c.557-7G>C single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000388897]|not provided [RCV000959628] Chr20:58670505 [GRCh38]
Chr20:57245561 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_001001433.3(STX16):c.*2057G>A single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000267008] Chr20:58678348 [GRCh38]
Chr20:57253404 [GRCh37]
Chr20:20q13.32
benign
NM_001001433.3(STX16):c.106C>A (p.Pro36Thr) single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000268540]|not provided [RCV000971975] Chr20:58652112 [GRCh38]
Chr20:57227168 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_001001433.3(STX16):c.383A>C (p.Glu128Ala) single nucleotide variant Inborn genetic diseases [RCV003245885] Chr20:58668117 [GRCh38]
Chr20:57243173 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.*651_*653dup duplication Autosomal dominant pseudohypoaldosteronism type 1 [RCV000330075]|not provided [RCV003430866] Chr20:58676941..58676942 [GRCh38]
Chr20:57251997..57251998 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_001001433.3(STX16):c.*2475T>C single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000362207] Chr20:58678766 [GRCh38]
Chr20:57253822 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.*1203T>C single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000381000] Chr20:58677494 [GRCh38]
Chr20:57252550 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.912G>C (p.Val304=) single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000304168] Chr20:58676225 [GRCh38]
Chr20:57251281 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.*2499C>T single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000304097] Chr20:58678790 [GRCh38]
Chr20:57253846 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.*1898A>G single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000365155] Chr20:58678189 [GRCh38]
Chr20:57253245 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.*3175_*3176del deletion Autosomal dominant pseudohypoaldosteronism type 1 [RCV000293916] Chr20:58679463..58679464 [GRCh38]
Chr20:57254519..57254520 [GRCh37]
Chr20:20q13.32
benign
NM_001001433.3(STX16):c.*1746C>T single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000334449] Chr20:58678037 [GRCh38]
Chr20:57253093 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.*952C>A single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000386908] Chr20:58677243 [GRCh38]
Chr20:57252299 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.*2137C>T single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000285004] Chr20:58678428 [GRCh38]
Chr20:57253484 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.-465T>G single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000296561] Chr20:58651542 [GRCh38]
Chr20:57226598 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.*2312G>A single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000336557] Chr20:58678603 [GRCh38]
Chr20:57253659 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.*2348del deletion Autosomal dominant pseudohypoaldosteronism type 1 [RCV000296705] Chr20:58678639 [GRCh38]
Chr20:57253695 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.-707G>A single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000321471] Chr20:58651300 [GRCh38]
Chr20:57226356 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.*270T>C single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000297545] Chr20:58676561 [GRCh38]
Chr20:57251617 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.-377G>A single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000309301] Chr20:58651630 [GRCh38]
Chr20:57226686 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.*436G>C single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000354633] Chr20:58676727 [GRCh38]
Chr20:57251783 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.907C>G (p.Leu303Val) single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000391187] Chr20:58676220 [GRCh38]
Chr20:57251276 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.*3093A>G single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000374406] Chr20:58679384 [GRCh38]
Chr20:57254440 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.-409G>A single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000392999] Chr20:58651598 [GRCh38]
Chr20:57226654 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.*1764C>T single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000392781] Chr20:58678055 [GRCh38]
Chr20:57253111 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.*2496del deletion Autosomal dominant pseudohypoaldosteronism type 1 [RCV000393063] Chr20:58678787 [GRCh38]
Chr20:57253843 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.*1232A>G single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000289142] Chr20:58677523 [GRCh38]
Chr20:57252579 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.*56T>C single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000342710] Chr20:58676347 [GRCh38]
Chr20:57251403 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.904A>G (p.Met302Val) single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000343736] Chr20:58676217 [GRCh38]
Chr20:57251273 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.*1160G>A single nucleotide variant Pseudohypoparathyroidism type 1B [RCV000328981] Chr20:58677451 [GRCh38]
Chr20:57252507 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.475G>A (p.Gly159Arg) single nucleotide variant not provided [RCV000485518] Chr20:58669372 [GRCh38]
Chr20:57244428 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_024663.4(NPEPL1):c.767C>G (p.Ala256Gly) single nucleotide variant Inborn genetic diseases [RCV003282266] Chr20:58701103 [GRCh38]
Chr20:57276159 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_024663.4(NPEPL1):c.1136C>T (p.Thr379Ile) single nucleotide variant Inborn genetic diseases [RCV003248381] Chr20:58713927 [GRCh38]
Chr20:57288983 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_024663.4(NPEPL1):c.1310A>T (p.Asp437Val) single nucleotide variant Inborn genetic diseases [RCV003266389] Chr20:58714567 [GRCh38]
Chr20:57289623 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.792+128dup duplication not provided [RCV001679966] Chr20:58671422..58671423 [GRCh38]
Chr20:57246478..57246479 [GRCh37]
Chr20:20q13.32
benign
NM_001001433.3(STX16):c.393+156C>T single nucleotide variant not provided [RCV001692618] Chr20:58668283 [GRCh38]
Chr20:57243339 [GRCh37]
Chr20:20q13.32
benign
NM_001001433.3(STX16):c.648+235= single nucleotide variant not provided [RCV001645371] Chr20:58670838 [GRCh38]
Chr20:57245894 [GRCh37]
Chr20:20q13.32
benign
NM_001001433.3(STX16):c.594C>T (p.Phe198=) single nucleotide variant Pseudohypoparathyroidism type 1B [RCV001137592]|not provided [RCV000897258] Chr20:58670549 [GRCh38]
Chr20:57245605 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_001001433.3(STX16):c.792+140_792+141del deletion not provided [RCV001708517] Chr20:58671436..58671437 [GRCh38]
Chr20:57246492..57246493 [GRCh37]
Chr20:20q13.32
benign
NM_001001433.3(STX16):c.792+140_792+147del deletion not provided [RCV001679078] Chr20:58671430..58671437 [GRCh38]
Chr20:57246486..57246493 [GRCh37]
Chr20:20q13.32
benign
NM_001001433.3(STX16):c.99C>T (p.Thr33=) single nucleotide variant not provided [RCV000921521] Chr20:58652105 [GRCh38]
Chr20:57227161 [GRCh37]
Chr20:20q13.32
likely benign
NM_024663.4(NPEPL1):c.424C>T (p.Arg142Trp) single nucleotide variant Inborn genetic diseases [RCV003269797] Chr20:58694509 [GRCh38]
Chr20:57269565 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.648+10C>T single nucleotide variant not provided [RCV000920439] Chr20:58670613 [GRCh38]
Chr20:57245669 [GRCh37]
Chr20:20q13.32
likely benign
NM_001001433.3(STX16):c.546C>A (p.Gly182=) single nucleotide variant not provided [RCV000897694] Chr20:58669443 [GRCh38]
Chr20:57244499 [GRCh37]
Chr20:20q13.32
likely benign
NM_001001433.3(STX16):c.666G>A (p.Gln222=) single nucleotide variant not provided [RCV000909797] Chr20:58671171 [GRCh38]
Chr20:57246227 [GRCh37]
Chr20:20q13.32
likely benign
NM_001001433.3(STX16):c.593T>C (p.Phe198Ser) single nucleotide variant Pseudohypoparathyroidism type 1B [RCV001137591] Chr20:58670548 [GRCh38]
Chr20:57245604 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.*2095C>T single nucleotide variant Pseudohypoparathyroidism type 1B [RCV001137819] Chr20:58678386 [GRCh38]
Chr20:57253442 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.*2152G>A single nucleotide variant Pseudohypoparathyroidism type 1B [RCV001137821] Chr20:58678443 [GRCh38]
Chr20:57253499 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.706C>T (p.Arg236Trp) single nucleotide variant Pseudohypoparathyroidism type 1B [RCV001139816] Chr20:58671211 [GRCh38]
Chr20:57246267 [GRCh37]
Chr20:20q13.32
benign
NM_001001433.3(STX16):c.*3092A>C single nucleotide variant Pseudohypoparathyroidism type 1B [RCV001142661] Chr20:58679383 [GRCh38]
Chr20:57254439 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.*1676T>A single nucleotide variant Pseudohypoparathyroidism type 1B [RCV001139928] Chr20:58677967 [GRCh38]
Chr20:57253023 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.*2276G>C single nucleotide variant Pseudohypoparathyroidism type 1B [RCV001140055] Chr20:58678567 [GRCh38]
Chr20:57253623 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.*1195A>G single nucleotide variant Pseudohypoparathyroidism type 1B [RCV001137702] Chr20:58677486 [GRCh38]
Chr20:57252542 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.*1223A>G single nucleotide variant Pseudohypoparathyroidism type 1B [RCV001137703] Chr20:58677514 [GRCh38]
Chr20:57252570 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.*2138G>A single nucleotide variant Pseudohypoparathyroidism type 1B [RCV001137820] Chr20:58678429 [GRCh38]
Chr20:57253485 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.792+183_792+185del deletion not provided [RCV001657245] Chr20:58671478..58671480 [GRCh38]
Chr20:57246534..57246536 [GRCh37]
Chr20:20q13.32
benign
NM_001001433.3(STX16):c.792+140_792+145del deletion not provided [RCV001715508] Chr20:58671432..58671437 [GRCh38]
Chr20:57246488..57246493 [GRCh37]
Chr20:20q13.32
benign
NM_001001433.3(STX16):c.792+128_792+129insTAT insertion not provided [RCV001655192] Chr20:58671424..58671425 [GRCh38]
Chr20:57246480..57246481 [GRCh37]
Chr20:20q13.32
benign
NM_001001433.3(STX16):c.393+225C>T single nucleotide variant not provided [RCV001615677] Chr20:58668352 [GRCh38]
Chr20:57243408 [GRCh37]
Chr20:20q13.32
benign
NM_001001433.3(STX16):c.792+175G>A single nucleotide variant not provided [RCV001710703] Chr20:58671472 [GRCh38]
Chr20:57246528 [GRCh37]
Chr20:20q13.32
benign
NM_001001433.3(STX16):c.792+141G>A single nucleotide variant not provided [RCV001677327] Chr20:58671438 [GRCh38]
Chr20:57246494 [GRCh37]
Chr20:20q13.32
benign
NM_001001433.3(STX16):c.480C>T (p.Asn160=) single nucleotide variant not provided [RCV000941144] Chr20:58669377 [GRCh38]
Chr20:57244433 [GRCh37]
Chr20:20q13.32
likely benign
NM_001001433.3(STX16):c.303C>T (p.Ser101=) single nucleotide variant not provided [RCV000975992] Chr20:58668037 [GRCh38]
Chr20:57243093 [GRCh37]
Chr20:20q13.32
likely benign
NM_001001433.3(STX16):c.442C>T (p.Arg148Trp) single nucleotide variant Pseudohypoparathyroidism type 1B [RCV002495350]|not provided [RCV000882226] Chr20:58669339 [GRCh38]
Chr20:57244395 [GRCh37]
Chr20:20q13.32
likely benign
NM_001001433.3(STX16):c.875C>T (p.Ala292Val) single nucleotide variant Pseudohypoparathyroidism type 1B [RCV001139818] Chr20:58676188 [GRCh38]
Chr20:57251244 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.*2555C>G single nucleotide variant Pseudohypoparathyroidism type 1B [RCV001140810] Chr20:58678846 [GRCh38]
Chr20:57253902 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.*2568C>T single nucleotide variant Pseudohypoparathyroidism type 1B [RCV001140812] Chr20:58678859 [GRCh38]
Chr20:57253915 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.*539G>A single nucleotide variant Pseudohypoparathyroidism type 1B [RCV001142447] Chr20:58676830 [GRCh38]
Chr20:57251886 [GRCh37]
Chr20:20q13.32
benign
NM_001001433.3(STX16):c.*3053C>T single nucleotide variant Pseudohypoparathyroidism type 1B [RCV001142660] Chr20:58679344 [GRCh38]
Chr20:57254400 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.360T>C (p.His120=) single nucleotide variant Pseudohypoparathyroidism type 1B [RCV002495501]|not provided [RCV000911442]|not specified [RCV001818831] Chr20:58668094 [GRCh38]
Chr20:57243150 [GRCh37]
Chr20:20q13.32
likely benign
NM_001001433.3(STX16):c.792+131G>A single nucleotide variant not provided [RCV001682096] Chr20:58671428 [GRCh38]
Chr20:57246484 [GRCh37]
Chr20:20q13.32
benign
NM_001001433.3(STX16):c.394-96del deletion not provided [RCV001635766] Chr20:58669195 [GRCh38]
Chr20:57244251 [GRCh37]
Chr20:20q13.32
benign
NM_001001433.3(STX16):c.874-257G>C single nucleotide variant not provided [RCV001608186] Chr20:58675930 [GRCh38]
Chr20:57250986 [GRCh37]
Chr20:20q13.32
benign
NM_001001433.3(STX16):c.792+140_792+151del deletion not provided [RCV001721688] Chr20:58671427..58671438 [GRCh38]
Chr20:57246483..57246494 [GRCh37]
Chr20:20q13.32
benign
NM_001001433.3(STX16):c.792+140_792+149del deletion not provided [RCV001594653] Chr20:58671428..58671437 [GRCh38]
Chr20:57246484..57246493 [GRCh37]
Chr20:20q13.32
benign
NM_001001433.3(STX16):c.394-146A>G single nucleotide variant not provided [RCV001598950] Chr20:58669145 [GRCh38]
Chr20:57244201 [GRCh37]
Chr20:20q13.32
benign
NM_001001433.3(STX16):c.132+244dup duplication not provided [RCV001689364] Chr20:58652371..58652372 [GRCh38]
Chr20:57227427..57227428 [GRCh37]
Chr20:20q13.32
benign
NM_001001433.3(STX16):c.*3110G>T single nucleotide variant Pseudohypoparathyroidism type 1B [RCV001142662] Chr20:58679401 [GRCh38]
Chr20:57254457 [GRCh37]
Chr20:20q13.32
benign
NM_001001433.3(STX16):c.454G>A (p.Glu152Lys) single nucleotide variant Pseudohypoparathyroidism type 1B [RCV001142333] Chr20:58669351 [GRCh38]
Chr20:57244407 [GRCh37]
Chr20:20q13.32
benign
NM_001001433.3(STX16):c.*1312A>T single nucleotide variant Pseudohypoparathyroidism type 1B [RCV001137704] Chr20:58677603 [GRCh38]
Chr20:57252659 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.*2377G>T single nucleotide variant Pseudohypoparathyroidism type 1B [RCV001140056] Chr20:58678668 [GRCh38]
Chr20:57253724 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.-421C>G single nucleotide variant Pseudohypoparathyroidism type 1B [RCV001140478] Chr20:58651586 [GRCh38]
Chr20:57226642 [GRCh37]
Chr20:20q13.32
benign
NM_001001433.3(STX16):c.-25A>C single nucleotide variant Pseudohypoparathyroidism type 1B [RCV001140479] Chr20:58651982 [GRCh38]
Chr20:57227038 [GRCh37]
Chr20:20q13.32
benign
NM_001001433.3(STX16):c.781A>C (p.Ile261Leu) single nucleotide variant Pseudohypoparathyroidism type 1B [RCV001139817] Chr20:58671286 [GRCh38]
Chr20:57246342 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.*2574T>C single nucleotide variant Pseudohypoparathyroidism type 1B [RCV001140813] Chr20:58678865 [GRCh38]
Chr20:57253921 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.315G>A (p.Lys105=) single nucleotide variant Pseudohypoparathyroidism type 1B [RCV001142332] Chr20:58668049 [GRCh38]
Chr20:57243105 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.*648A>C single nucleotide variant Pseudohypoparathyroidism type 1B [RCV001142449] Chr20:58676939 [GRCh38]
Chr20:57251995 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.*1896G>A single nucleotide variant Pseudohypoparathyroidism type 1B [RCV001140690] Chr20:58678187 [GRCh38]
Chr20:57253243 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.*3194C>T single nucleotide variant Pseudohypoparathyroidism type 1B [RCV001142663] Chr20:58679485 [GRCh38]
Chr20:57254541 [GRCh37]
Chr20:20q13.32
benign
NM_001001433.3(STX16):c.133-165_133-163del deletion not provided [RCV001691922] Chr20:58659458..58659460 [GRCh38]
Chr20:57234514..57234516 [GRCh37]
Chr20:20q13.32
benign
NM_001001433.3(STX16):c.*1156G>C single nucleotide variant Pseudohypoparathyroidism type 1B [RCV001142450] Chr20:58677447 [GRCh38]
Chr20:57252503 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.*1997A>G single nucleotide variant Pseudohypoparathyroidism type 1B [RCV001142567] Chr20:58678288 [GRCh38]
Chr20:57253344 [GRCh37]
Chr20:20q13.32
benign
NM_001001433.3(STX16):c.-494G>A single nucleotide variant Pseudohypoparathyroidism type 1B [RCV001139712] Chr20:58651513 [GRCh38]
Chr20:57226569 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.*1747G>C single nucleotide variant Pseudohypoparathyroidism type 1B [RCV001139929] Chr20:58678038 [GRCh38]
Chr20:57253094 [GRCh37]
Chr20:20q13.32
benign
NM_001001433.3(STX16):c.*2558T>C single nucleotide variant Pseudohypoparathyroidism type 1B [RCV001140811] Chr20:58678849 [GRCh38]
Chr20:57253905 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.-621G>A single nucleotide variant Pseudohypoparathyroidism type 1B [RCV001139711] Chr20:58651386 [GRCh38]
Chr20:57226442 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.*1565C>G single nucleotide variant Pseudohypoparathyroidism type 1B [RCV001139927] Chr20:58677856 [GRCh38]
Chr20:57252912 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.*558T>C single nucleotide variant Pseudohypoparathyroidism type 1B [RCV001142448] Chr20:58676849 [GRCh38]
Chr20:57251905 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.*1957T>C single nucleotide variant Pseudohypoparathyroidism type 1B [RCV001142566] Chr20:58678248 [GRCh38]
Chr20:57253304 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.*17G>A single nucleotide variant Pseudohypoparathyroidism type 1B [RCV001140592] Chr20:58676308 [GRCh38]
Chr20:57251364 [GRCh37]
Chr20:20q13.32
likely benign
NM_001001433.3(STX16):c.*217G>A single nucleotide variant Pseudohypoparathyroidism type 1B [RCV001140593] Chr20:58676508 [GRCh38]
Chr20:57251564 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.*1886T>C single nucleotide variant Pseudohypoparathyroidism type 1B [RCV001140689] Chr20:58678177 [GRCh38]
Chr20:57253233 [GRCh37]
Chr20:20q13.32
benign
NM_001001433.3(STX16):c.484G>T (p.Val162Leu) single nucleotide variant Pseudohypoparathyroidism type 1B [RCV001137590] Chr20:58669381 [GRCh38]
Chr20:57244437 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.*1186C>T single nucleotide variant Pseudohypoparathyroidism type 1B [RCV001137701] Chr20:58677477 [GRCh38]
Chr20:57252533 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.393+557_792+364del deletion Pseudohypoparathyroidism type 1B [RCV001255981] Chr20:58668511..58671488 [GRCh38]
Chr20:57243567..57246544 [GRCh37]
Chr20:20q13.32
pathogenic
NM_001001433.3(STX16):c.661G>A (p.Asp221Asn) single nucleotide variant not provided [RCV001356329] Chr20:58671166 [GRCh38]
Chr20:57246222 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.776C>T (p.Ala259Val) single nucleotide variant not provided [RCV001356197] Chr20:58671281 [GRCh38]
Chr20:57246337 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.792+140_792+143del deletion not provided [RCV001714737] Chr20:58671434..58671437 [GRCh38]
Chr20:57246490..57246493 [GRCh37]
Chr20:20q13.32
benign
NM_001001433.3(STX16):c.557-143= single nucleotide variant not provided [RCV001696002] Chr20:58670369 [GRCh38]
Chr20:57245425 [GRCh37]
Chr20:20q13.32
benign
NM_001001433.3(STX16):c.133-197A>G single nucleotide variant not provided [RCV001698523] Chr20:58659426 [GRCh38]
Chr20:57234482 [GRCh37]
Chr20:20q13.32
benign
NM_001001433.3(STX16):c.145-2060_556+343del deletion Pseudohypoparathyroidism type 1B [RCV000006524] Chr20:58665428..58669794 [GRCh38]
Chr20:57240484..57244850 [GRCh37]
Chr20:20q13.32
pathogenic
NM_001001433.3(STX16):c.873+1_873+2dup duplication not provided [RCV003151993] Chr20:58673711..58673712 [GRCh38]
Chr20:57248767..57248768 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.451T>C (p.Ser151Pro) single nucleotide variant Inborn genetic diseases [RCV002728610] Chr20:58669348 [GRCh38]
Chr20:57244404 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_024663.4(NPEPL1):c.536G>A (p.Arg179Gln) single nucleotide variant Inborn genetic diseases [RCV002686776] Chr20:58698712 [GRCh38]
Chr20:57273768 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.133-18G>A single nucleotide variant not provided [RCV002730993] Chr20:58659605 [GRCh38]
Chr20:57234661 [GRCh37]
Chr20:20q13.32
likely benign
NM_001001433.3(STX16):c.450C>T (p.Cys150=) single nucleotide variant not provided [RCV002862160] Chr20:58669347 [GRCh38]
Chr20:57244403 [GRCh37]
Chr20:20q13.32
likely benign
NM_001001433.3(STX16):c.253-11C>T single nucleotide variant not provided [RCV003017663] Chr20:58667976 [GRCh38]
Chr20:57243032 [GRCh37]
Chr20:20q13.32
likely benign
NM_024663.4(NPEPL1):c.626G>A (p.Gly209Glu) single nucleotide variant Inborn genetic diseases [RCV002946604] Chr20:58699225 [GRCh38]
Chr20:57274281 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.44A>G (p.Asn15Ser) single nucleotide variant Inborn genetic diseases [RCV002753414] Chr20:58652050 [GRCh38]
Chr20:57227106 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_024663.4(NPEPL1):c.532G>A (p.Val178Met) single nucleotide variant Inborn genetic diseases [RCV002749032] Chr20:58698708 [GRCh38]
Chr20:57273764 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_024663.4(NPEPL1):c.34G>A (p.Ala12Thr) single nucleotide variant Inborn genetic diseases [RCV002689034] Chr20:58692934 [GRCh38]
Chr20:57267990 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_024663.4(NPEPL1):c.59G>C (p.Arg20Pro) single nucleotide variant Inborn genetic diseases [RCV002882767] Chr20:58692959 [GRCh38]
Chr20:57268015 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_024663.4(NPEPL1):c.529G>A (p.Gly177Ser) single nucleotide variant Inborn genetic diseases [RCV002794646] Chr20:58698705 [GRCh38]
Chr20:57273761 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_024663.4(NPEPL1):c.1087G>A (p.Asp363Asn) single nucleotide variant Inborn genetic diseases [RCV002849637] Chr20:58713505 [GRCh38]
Chr20:57288561 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.973C>T (p.Arg325Ter) single nucleotide variant not provided [RCV002623276] Chr20:58676286 [GRCh38]
Chr20:57251342 [GRCh37]
Chr20:20q13.32
benign
NM_024663.4(NPEPL1):c.868G>A (p.Val290Ile) single nucleotide variant Inborn genetic diseases [RCV002887940] Chr20:58707168 [GRCh38]
Chr20:57282224 [GRCh37]
Chr20:20q13.32
likely benign
NM_001001433.3(STX16):c.157C>T (p.Arg53Cys) single nucleotide variant not provided [RCV002619281] Chr20:58667502 [GRCh38]
Chr20:57242558 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_024663.4(NPEPL1):c.1121C>T (p.Ala374Val) single nucleotide variant Inborn genetic diseases [RCV002884835] Chr20:58713539 [GRCh38]
Chr20:57288595 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.485T>A (p.Val162Glu) single nucleotide variant Inborn genetic diseases [RCV002884503] Chr20:58669382 [GRCh38]
Chr20:57244438 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.792+14C>A single nucleotide variant not provided [RCV002736110] Chr20:58671311 [GRCh38]
Chr20:57246367 [GRCh37]
Chr20:20q13.32
likely benign
NM_001001433.3(STX16):c.535G>A (p.Ala179Thr) single nucleotide variant not provided [RCV002691175] Chr20:58669432 [GRCh38]
Chr20:57244488 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_024663.4(NPEPL1):c.571G>A (p.Glu191Lys) single nucleotide variant Inborn genetic diseases [RCV002713808] Chr20:58698747 [GRCh38]
Chr20:57273803 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.415G>A (p.Ala139Thr) single nucleotide variant Inborn genetic diseases [RCV002986997] Chr20:58669312 [GRCh38]
Chr20:57244368 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.155_158del (p.Asp52fs) deletion not provided [RCV003059853] Chr20:58667499..58667502 [GRCh38]
Chr20:57242555..57242558 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.422A>G (p.Gln141Arg) single nucleotide variant Inborn genetic diseases [RCV003004587] Chr20:58669319 [GRCh38]
Chr20:57244375 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.149C>T (p.Ala50Val) single nucleotide variant Inborn genetic diseases [RCV002893162] Chr20:58667494 [GRCh38]
Chr20:57242550 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.834C>G (p.Ser278=) single nucleotide variant not provided [RCV002574553] Chr20:58673672 [GRCh38]
Chr20:57248728 [GRCh37]
Chr20:20q13.32
benign
NM_024663.4(NPEPL1):c.1154C>T (p.Ala385Val) single nucleotide variant Inborn genetic diseases [RCV002788942] Chr20:58713945 [GRCh38]
Chr20:57289001 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.648+4C>T single nucleotide variant not provided [RCV002766868] Chr20:58670607 [GRCh38]
Chr20:57245663 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.144+16T>C single nucleotide variant not provided [RCV002740763] Chr20:58659650 [GRCh38]
Chr20:57234706 [GRCh37]
Chr20:20q13.32
benign
NM_001001433.3(STX16):c.394-12T>C single nucleotide variant not provided [RCV002765663] Chr20:58669279 [GRCh38]
Chr20:57244335 [GRCh37]
Chr20:20q13.32
likely benign
NM_024663.4(NPEPL1):c.169A>G (p.Ser57Gly) single nucleotide variant Inborn genetic diseases [RCV002878733] Chr20:58693755 [GRCh38]
Chr20:57268811 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_024663.4(NPEPL1):c.1057G>A (p.Val353Met) single nucleotide variant Inborn genetic diseases [RCV002812555] Chr20:58713475 [GRCh38]
Chr20:57288531 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_024663.4(NPEPL1):c.479A>G (p.Asn160Ser) single nucleotide variant Inborn genetic diseases [RCV002648834] Chr20:58694564 [GRCh38]
Chr20:57269620 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_024663.4(NPEPL1):c.386G>A (p.Arg129Gln) single nucleotide variant Inborn genetic diseases [RCV002878270] Chr20:58694471 [GRCh38]
Chr20:57269527 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.201G>A (p.Ala67=) single nucleotide variant not provided [RCV003086413] Chr20:58667546 [GRCh38]
Chr20:57242602 [GRCh37]
Chr20:20q13.32
likely benign
NM_024663.4(NPEPL1):c.274G>A (p.Ala92Thr) single nucleotide variant Inborn genetic diseases [RCV002649259] Chr20:58693860 [GRCh38]
Chr20:57268916 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_024663.4(NPEPL1):c.112C>T (p.His38Tyr) single nucleotide variant Inborn genetic diseases [RCV002961263] Chr20:58693012 [GRCh38]
Chr20:57268068 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_024663.4(NPEPL1):c.895A>G (p.Lys299Glu) single nucleotide variant Inborn genetic diseases [RCV002808862] Chr20:58707195 [GRCh38]
Chr20:57282251 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.958G>A (p.Val320Ile) single nucleotide variant Inborn genetic diseases [RCV003161720]|not provided [RCV003072211] Chr20:58676271 [GRCh38]
Chr20:57251327 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_024663.4(NPEPL1):c.335T>C (p.Val112Ala) single nucleotide variant Inborn genetic diseases [RCV003184929] Chr20:58693921 [GRCh38]
Chr20:57268977 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_024663.4(NPEPL1):c.1435G>T (p.Gly479Cys) single nucleotide variant Inborn genetic diseases [RCV003381085] Chr20:58715189 [GRCh38]
Chr20:57290245 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001204872.2(NPEPL1):c.-41-261G>A single nucleotide variant not provided [RCV003440453] Chr20:58691463 [GRCh38]
Chr20:57266519 [GRCh37]
Chr20:20q13.32
likely benign
NM_024663.4(NPEPL1):c.569A>G (p.Asn190Ser) single nucleotide variant Inborn genetic diseases [RCV003351684] Chr20:58698745 [GRCh38]
Chr20:57273801 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.394-19C>T single nucleotide variant not provided [RCV003712534] Chr20:58669272 [GRCh38]
Chr20:57244328 [GRCh37]
Chr20:20q13.32
likely benign
NM_001001433.3(STX16):c.418G>A (p.Val140Met) single nucleotide variant STX16-related condition [RCV003392820] Chr20:58669315 [GRCh38]
Chr20:57244371 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_001001433.3(STX16):c.636T>C (p.Thr212=) single nucleotide variant not provided [RCV003544472] Chr20:58670591 [GRCh38]
Chr20:57245647 [GRCh37]
Chr20:20q13.32
likely benign
NM_001001433.3(STX16):c.102dup (p.Ser35fs) duplication not provided [RCV003712857] Chr20:58652106..58652107 [GRCh38]
Chr20:57227162..57227163 [GRCh37]
Chr20:20q13.32
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1518
Count of miRNA genes:703
Interacting mature miRNAs:803
Transcripts:ENST00000413559, ENST00000530122
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 appendage entire extraembryonic component
High
Medium 1 67 10 1 18 1
Low 140 29 214 166 563 168 249 57 140 157 216 239 5 2 3
Below cutoff 70 4 77 57 118 59 48 10 14 143 91 127 3 1

Sequence


RefSeq Acc Id: ENST00000413559
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,673,638 - 58,692,206 (+)Ensembl
RefSeq Acc Id: ENST00000530122   ⟹   ENSP00000457522
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,651,434 - 58,715,410 (+)Ensembl
RefSeq Acc Id: NR_037945
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382058,651,253 - 58,715,844 (+)NCBI
GRCh372057,226,309 - 57,290,900 (+)ENTREZGENE
HuRef2054,010,737 - 54,077,009 (+)ENTREZGENE
CHM1_12057,127,816 - 57,192,579 (+)NCBI
T2T-CHM13v2.02060,433,317 - 60,498,449 (+)NCBI
Sequence:
Protein Sequences
GenBank Protein BAD92533 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000457522.1
RefSeq Acc Id: ENSP00000457522   ⟸   ENST00000530122

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:41993 AgrOrtholog
COSMIC STX16-NPEPL1 COSMIC
Ensembl Genes ENSG00000254995 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000530122 ENTREZGENE
  ENST00000530122.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.58.70 UniProtKB/TrEMBL
GTEx ENSG00000254995 GTEx
HGNC ID HGNC:41993 ENTREZGENE
Human Proteome Map STX16-NPEPL1 Human Proteome Map
InterPro Syntaxin UniProtKB/TrEMBL
  Syntaxin/epimorphin_CS UniProtKB/TrEMBL
  Syntaxin_N UniProtKB/TrEMBL
  t-SNARE UniProtKB/TrEMBL
  T_SNARE_dom UniProtKB/TrEMBL
NCBI Gene 100534593 ENTREZGENE
PANTHER PTHR19957 UniProtKB/TrEMBL
  PTHR19957:SF83 UniProtKB/TrEMBL
Pfam Syntaxin UniProtKB/TrEMBL
PROSITE SYNTAXIN UniProtKB/TrEMBL
  T_SNARE UniProtKB/TrEMBL
RNAcentral URS000075AEF2 RNACentral
SMART t_SNARE UniProtKB/TrEMBL
Superfamily-SCOP t-snare UniProtKB/TrEMBL
UniProt H3BU86_HUMAN UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-05-14 STX16-NPEPL1  STX16-NPEPL1 readthrough (NMD candidate)  STX16-NPEPL1  STX16-NPEPL1 readthrough (non-protein coding)  Symbol and/or name change 5135510 APPROVED