Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | pseudohypoaldosteronism | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | pseudohypoaldosteronism | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
3. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
4. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
5. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
PMID:9464276 | PMID:9587053 | PMID:11483580 | PMID:11780052 | PMID:11839770 | PMID:12110575 | PMID:12477932 | PMID:14671302 | PMID:15215310 | PMID:15231748 | PMID:15489334 | PMID:15800843 |
PMID:16154903 | PMID:17389686 | PMID:17852734 | PMID:18029348 | PMID:18195106 | PMID:19620288 | PMID:19887622 | PMID:19916794 | PMID:20061437 | PMID:20589833 | PMID:20826815 | PMID:20838585 |
PMID:21062889 | PMID:21223469 | PMID:21423176 | PMID:21873635 | PMID:23087324 | PMID:23095209 | PMID:23677696 | PMID:24109596 | PMID:24705354 | PMID:25416956 | PMID:25843330 | PMID:26344197 |
PMID:26598620 | PMID:26638075 | PMID:26760575 | PMID:26972000 | PMID:27338644 | PMID:27432908 | PMID:27880917 | PMID:28514442 | PMID:28626000 | PMID:29072892 | PMID:29117863 | PMID:29180619 |
PMID:29509190 | PMID:29568061 | PMID:30021884 | PMID:30575818 | PMID:30833792 | PMID:30948266 | PMID:31527615 | PMID:31871319 | PMID:32296183 | PMID:33087821 | PMID:33247854 | PMID:33269569 |
PMID:33845483 | PMID:33961781 | PMID:34369648 | PMID:34477200 | PMID:34597346 | PMID:34709727 | PMID:35271311 | PMID:36215168 | PMID:36300783 | PMID:37827155 | PMID:38095637 |
STX16 (Homo sapiens - human) |
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Stx16 (Mus musculus - house mouse) |
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Stx16 (Rattus norvegicus - Norway rat) |
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Stx16 (Chinchilla lanigera - long-tailed chinchilla) |
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STX16 (Pan paniscus - bonobo/pygmy chimpanzee) |
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STX16 (Canis lupus familiaris - dog) |
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Stx16 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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STX16 (Sus scrofa - pig) |
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STX16 (Chlorocebus sabaeus - green monkey) |
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Stx16 (Heterocephalus glaber - naked mole-rat) |
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Variants in STX16
161 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
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 |
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 |
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 |
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.*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 |
GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3 | copy number gain | See cases [RCV000511980] | Chr20:51542616..62915555 [GRCh37] Chr20:20q13.2-13.33 |
likely pathogenic |
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 | copy number gain | See cases [RCV000510832] | Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) | copy number gain | See cases [RCV000512450] | Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 | copy number gain | not provided [RCV000741058] | Chr20:63244..62948788 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 | copy number gain | not provided [RCV000741059] | Chr20:63244..62961294 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 | copy number gain | not provided [RCV000741057] | Chr20:63244..62912463 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
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.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.792+128dup | duplication | not provided [RCV001679966] | Chr20:58671422..58671423 [GRCh38] Chr20:57246478..57246479 [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.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.666G>A (p.Gln222=) | single nucleotide variant | not provided [RCV000909797] | Chr20:58671171 [GRCh38] Chr20:57246227 [GRCh37] Chr20:20q13.32 |
likely benign |
GRCh37/hg19 20q13.32(chr20:57244540-57246216) | copy number loss | Pseudohypoparathyroidism type 1B [RCV000767625] | Chr20:57244540..57246216 [GRCh37] Chr20:20q13.32 |
pathogenic |
GRCh37/hg19 20q13.2-13.33(chr20:54143747-62194881) | copy number gain | not provided [RCV000767669] | Chr20:54143747..62194881 [GRCh37] Chr20:20q13.2-13.33 |
pathogenic |
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.*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.593T>C (p.Phe198Ser) | single nucleotide variant | Pseudohypoparathyroidism type 1B [RCV001137591] | Chr20:58670548 [GRCh38] Chr20:57245604 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NC_000020.10:g.(?_56993257)_(57967907_?)dup | duplication | Amyotrophic lateral sclerosis type 8 [RCV002254579] | Chr20:56993257..57967907 [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.*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.*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.*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.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.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.*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.*1747G>C | single nucleotide variant | Pseudohypoparathyroidism type 1B [RCV001139929] | Chr20:58678038 [GRCh38] Chr20:57253094 [GRCh37] Chr20:20q13.32 |
benign |
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.*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.*1223A>G | single nucleotide variant | Pseudohypoparathyroidism type 1B [RCV001137703] | Chr20:58677514 [GRCh38] Chr20:57252570 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NC_000020.10:g.(?_57244327)_(57246373_?)del | deletion | not provided [RCV003105387] | Chr20:57244327..57246373 [GRCh37] Chr20:20q13.32 |
pathogenic |
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.99C>T (p.Thr33=) | single nucleotide variant | not provided [RCV000921521] | Chr20:58652105 [GRCh38] Chr20:57227161 [GRCh37] Chr20:20q13.32 |
likely 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.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.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.*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.*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.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.-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.*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.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.*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.-421C>G | single nucleotide variant | Pseudohypoparathyroidism type 1B [RCV001140478] | Chr20:58651586 [GRCh38] Chr20:57226642 [GRCh37] Chr20:20q13.32 |
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.*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.*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.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.*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.*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.792+140_792+141del | deletion | not provided [RCV001708517] | Chr20:58671436..58671437 [GRCh38] Chr20:57246492..57246493 [GRCh37] Chr20:20q13.32 |
benign |
GRCh37/hg19 20q13.31-13.33(chr20:55743522-62032989)x3 | copy number gain | not provided [RCV001007097] | Chr20:55743522..62032989 [GRCh37] Chr20:20q13.31-13.33 |
pathogenic |
NC_000020.11:g.58651187G>C | single nucleotide variant | not provided [RCV001652499] | Chr20:58651187 [GRCh38] Chr20:57226243 [GRCh37] Chr20:20q13.32 |
benign |
NC_000020.11:g.58651023C>G | single nucleotide variant | not provided [RCV001692973] | Chr20:58651023 [GRCh38] Chr20:57226079 [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.*1997A>G | single nucleotide variant | Pseudohypoparathyroidism type 1B [RCV001142567] | Chr20:58678288 [GRCh38] Chr20:57253344 [GRCh37] Chr20:20q13.32 |
benign |
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.-25A>C | single nucleotide variant | Pseudohypoparathyroidism type 1B [RCV001140479] | Chr20:58651982 [GRCh38] Chr20:57227038 [GRCh37] Chr20:20q13.32 |
benign |
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.*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.*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.*1886T>C | single nucleotide variant | Pseudohypoparathyroidism type 1B [RCV001140689] | Chr20:58678177 [GRCh38] Chr20:57253233 [GRCh37] Chr20:20q13.32 |
benign |
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 |
GRCh37/hg19 20q13.32-13.33(chr20:56788101-62762405)x3 | copy number gain | not provided [RCV001007098] | Chr20:56788101..62762405 [GRCh37] Chr20:20q13.32-13.33 |
pathogenic |
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.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 |
GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3 | copy number gain | not provided [RCV001537917] | Chr20:51799648..62916626 [GRCh37] Chr20:20q13.2-13.33 |
pathogenic |
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 |
NC_000020.10:g.(?_56993257)_(57967907_?)dup | duplication | Amyotrophic lateral sclerosis type 8 [RCV001324796] | Chr20:56993257..57967907 [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.792+131G>A | single nucleotide variant | not provided [RCV001682096] | Chr20:58671428 [GRCh38] Chr20:57246484 [GRCh37] Chr20:20q13.32 |
benign |
GRCh37/hg19 20q13.32-13.33(chr20:56835739-62915555) | copy number gain | not specified [RCV002052713] | Chr20:56835739..62915555 [GRCh37] Chr20:20q13.32-13.33 |
pathogenic |
GRCh37/hg19 20q13.31-13.32(chr20:55292205-57866365) | copy number loss | not specified [RCV002052712] | Chr20:55292205..57866365 [GRCh37] Chr20:20q13.31-13.32 |
pathogenic |
NC_000020.10:g.(?_54823900)_(57899514_?)del | deletion | not provided [RCV001900543] | Chr20:54823900..57899514 [GRCh37] Chr20:20q13.2-13.32 |
uncertain significance |
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.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_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_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_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.973C>T (p.Arg325Ter) | single nucleotide variant | not provided [RCV002623276] | Chr20:58676286 [GRCh38] Chr20:57251342 [GRCh37] Chr20:20q13.32 |
benign |
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.157C>T (p.Arg53Cys) | single nucleotide variant | not provided [RCV002619281] | Chr20:58667502 [GRCh38] Chr20:57242558 [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_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.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_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.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.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_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_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 |
GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3 | copy number gain | See cases [RCV003329549] | Chr20:52773668..62965020 [GRCh37] Chr20:20q13.2-13.33 |
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 |
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. |
RH104064 |
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PMC213493P1 |
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STX16_8844 |
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STS-H63081 |
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A009Q02 |
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RH64145 |
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D20S496 |
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RH69331 |
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RH16472 |
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||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
D10S16 | No map positions available. | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
D22S296 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
D1S1361 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
D16S325 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
D8S2279 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
G32759 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
D1S1425 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
D10S16 |
|
alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
High | ||||||||||||||||||
Medium | 2437 | 2918 | 1711 | 613 | 1931 | 454 | 4351 | 2139 | 3689 | 406 | 1456 | 1609 | 175 | 1 | 1204 | 2783 | 5 | 2 |
Low | 2 | 73 | 15 | 11 | 20 | 11 | 6 | 58 | 45 | 13 | 4 | 4 | 5 | 1 | ||||
Below cutoff |
RefSeq Transcripts | NG_011831 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001001433 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001134772 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001134773 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001204868 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_003763 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_037941 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_037942 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_037943 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AA256337 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF008935 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF008936 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF008937 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF038897 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF305817 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF428146 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AI570829 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK026970 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK026974 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK296282 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK304867 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK316547 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL050327 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL139349 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY414339 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC019042 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC073876 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BQ229292 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BU844520 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BU844980 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BX396221 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BX537977 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CA427122 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CF594260 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471077 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068258 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DC424825 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ272217 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF456959 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF456966 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000312283 ⟹ ENSP00000312086 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000355957 ⟹ ENSP00000348229 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000358029 ⟹ ENSP00000350723 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000359617 ⟹ ENSP00000352634 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000361830 ⟹ ENSP00000354445 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000371132 ⟹ ENSP00000360173 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000371141 ⟹ ENSP00000360183 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000412911 ⟹ ENSP00000416852 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000438253 ⟹ ENSP00000401801 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000458280 ⟹ ENSP00000388348 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000460655 ⟹ ENSP00000435118 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000464640 ⟹ ENSP00000432414 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000467096 ⟹ ENSP00000434369 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000468590 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000476384 ⟹ ENSP00000437209 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000483434 ⟹ ENSP00000432823 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000490700 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000493301 ⟹ ENSP00000436667 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000496003 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000496117 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001001433 ⟹ NP_001001433 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001134772 ⟹ NP_001128244 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001134773 ⟹ NP_001128245 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001204868 ⟹ NP_001191797 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_003763 ⟹ NP_003754 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NR_037941 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | NON-CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NR_037942 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | NON-CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NR_037943 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | NON-CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
Protein RefSeqs | NP_001001433 | (Get FASTA) | NCBI Sequence Viewer |
NP_001128244 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001128245 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001191797 | (Get FASTA) | NCBI Sequence Viewer | |
NP_003754 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAB69282 | (Get FASTA) | NCBI Sequence Viewer |
AAB69283 | (Get FASTA) | NCBI Sequence Viewer | |
AAB69284 | (Get FASTA) | NCBI Sequence Viewer | |
AAC05647 | (Get FASTA) | NCBI Sequence Viewer | |
AAH19042 | (Get FASTA) | NCBI Sequence Viewer | |
AAH73876 | (Get FASTA) | NCBI Sequence Viewer | |
AAK55520 | (Get FASTA) | NCBI Sequence Viewer | |
AAL25100 | (Get FASTA) | NCBI Sequence Viewer | |
BAG58991 | (Get FASTA) | NCBI Sequence Viewer | |
BAG65605 | (Get FASTA) | NCBI Sequence Viewer | |
BAH14918 | (Get FASTA) | NCBI Sequence Viewer | |
EAW75481 | (Get FASTA) | NCBI Sequence Viewer | |
EAW75482 | (Get FASTA) | NCBI Sequence Viewer | |
EAW75483 | (Get FASTA) | NCBI Sequence Viewer | |
EAW75484 | (Get FASTA) | NCBI Sequence Viewer | |
EAW75485 | (Get FASTA) | NCBI Sequence Viewer | |
EAW75486 | (Get FASTA) | NCBI Sequence Viewer | |
EAW75487 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000312086.8 | ||
ENSP00000348229 | |||
ENSP00000348229.5 | |||
ENSP00000350723 | |||
ENSP00000350723.4 | |||
ENSP00000352634 | |||
ENSP00000352634.4 | |||
ENSP00000360173 | |||
ENSP00000360173.4 | |||
ENSP00000360183 | |||
ENSP00000360183.4 | |||
ENSP00000388348.1 | |||
ENSP00000401801.1 | |||
ENSP00000416852.1 | |||
ENSP00000432414.1 | |||
ENSP00000432823.1 | |||
ENSP00000434369.1 | |||
ENSP00000435118.1 | |||
ENSP00000436667.1 | |||
ENSP00000437209.1 | |||
GenBank Protein | O14662 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001001433 ⟸ NM_001001433 |
- Peptide Label: | isoform a |
- UniProtKB: | Q9H1T8 (UniProtKB/Swiss-Prot), Q9H1T7 (UniProtKB/Swiss-Prot), Q9H0Z0 (UniProtKB/Swiss-Prot), Q6GMS8 (UniProtKB/Swiss-Prot), Q5XKI6 (UniProtKB/Swiss-Prot), Q5W087 (UniProtKB/Swiss-Prot), Q5W086 (UniProtKB/Swiss-Prot), Q5W084 (UniProtKB/Swiss-Prot), O60517 (UniProtKB/Swiss-Prot), O14663 (UniProtKB/Swiss-Prot), O14661 (UniProtKB/Swiss-Prot), E1P607 (UniProtKB/Swiss-Prot), E1P5M0 (UniProtKB/Swiss-Prot), B7ZBN3 (UniProtKB/Swiss-Prot), B7ZBN2 (UniProtKB/Swiss-Prot), B7ZBN1 (UniProtKB/Swiss-Prot), A8MPP0 (UniProtKB/Swiss-Prot), A6NN69 (UniProtKB/Swiss-Prot), A6NK32 (UniProtKB/Swiss-Prot), Q9UIX5 (UniProtKB/Swiss-Prot), O14662 (UniProtKB/Swiss-Prot), B4E3U3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001128244 ⟸ NM_001134772 |
- Peptide Label: | isoform c |
- UniProtKB: | B4E3U3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001128245 ⟸ NM_001134773 |
- Peptide Label: | isoform d |
- UniProtKB: | B4E3U3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_003754 ⟸ NM_003763 |
- Peptide Label: | isoform b |
- UniProtKB: | B4E3U3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001191797 ⟸ NM_001204868 |
- Peptide Label: | isoform e |
- UniProtKB: | B4E3U3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000401801 ⟸ ENST00000438253 |
RefSeq Acc Id: | ENSP00000352634 ⟸ ENST00000359617 |
RefSeq Acc Id: | ENSP00000360173 ⟸ ENST00000371132 |
RefSeq Acc Id: | ENSP00000360183 ⟸ ENST00000371141 |
RefSeq Acc Id: | ENSP00000432414 ⟸ ENST00000464640 |
RefSeq Acc Id: | ENSP00000416852 ⟸ ENST00000412911 |
RefSeq Acc Id: | ENSP00000434369 ⟸ ENST00000467096 |
RefSeq Acc Id: | ENSP00000354445 ⟸ ENST00000361830 |
RefSeq Acc Id: | ENSP00000436667 ⟸ ENST00000493301 |
RefSeq Acc Id: | ENSP00000312086 ⟸ ENST00000312283 |
RefSeq Acc Id: | ENSP00000432823 ⟸ ENST00000483434 |
RefSeq Acc Id: | ENSP00000388348 ⟸ ENST00000458280 |
RefSeq Acc Id: | ENSP00000348229 ⟸ ENST00000355957 |
RefSeq Acc Id: | ENSP00000435118 ⟸ ENST00000460655 |
RefSeq Acc Id: | ENSP00000350723 ⟸ ENST00000358029 |
RefSeq Acc Id: | ENSP00000437209 ⟸ ENST00000476384 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-O14662-F1-model_v2 | AlphaFold | O14662 | 1-325 | view protein structure |
RGD ID: | 6799121 | ||||||||
Promoter ID: | HG_KWN:39976 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | ENST00000312283, ENST00000358029, ENST00000359617, ENST00000361770, ENST00000371132, ENST00000371137, ENST00000371138, ENST00000371141, NM_001001433, OTTHUMT00000080516, OTTHUMT00000080521, OTTHUMT00000080522, OTTHUMT00000080523, OTTHUMT00000080524, OTTHUMT00000080527, OTTHUMT00000267909, OTTHUMT00000267910, OTTHUMT00000267912, OTTHUMT00000267914, OTTHUMT00000267915, UC002XZH.1, UC002XZL.1 | ||||||||
Position: |
|
RGD ID: | 13602216 | ||||||||
Promoter ID: | EPDNEW_H27292 | ||||||||
Type: | initiation region | ||||||||
Name: | STX16_5 | ||||||||
Description: | syntaxin 16 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H27291 EPDNEW_H27293 EPDNEW_H27294 EPDNEW_H27295 EPDNEW_H27296 EPDNEW_H27297 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
RGD ID: | 13602218 | ||||||||
Promoter ID: | EPDNEW_H27293 | ||||||||
Type: | initiation region | ||||||||
Name: | STX16_1 | ||||||||
Description: | syntaxin 16 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H27291 EPDNEW_H27292 EPDNEW_H27294 EPDNEW_H27295 EPDNEW_H27296 EPDNEW_H27297 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
RGD ID: | 13602220 | ||||||||
Promoter ID: | EPDNEW_H27294 | ||||||||
Type: | initiation region | ||||||||
Name: | STX16_4 | ||||||||
Description: | syntaxin 16 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H27291 EPDNEW_H27292 EPDNEW_H27293 EPDNEW_H27295 EPDNEW_H27296 EPDNEW_H27297 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 13602222 | ||||||||
Promoter ID: | EPDNEW_H27295 | ||||||||
Type: | single initiation site | ||||||||
Name: | STX16_2 | ||||||||
Description: | syntaxin 16 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H27291 EPDNEW_H27292 EPDNEW_H27293 EPDNEW_H27294 EPDNEW_H27296 EPDNEW_H27297 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
RGD ID: | 13602224 | ||||||||
Promoter ID: | EPDNEW_H27296 | ||||||||
Type: | initiation region | ||||||||
Name: | STX16_6 | ||||||||
Description: | syntaxin 16 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H27291 EPDNEW_H27292 EPDNEW_H27293 EPDNEW_H27294 EPDNEW_H27295 EPDNEW_H27297 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
RGD ID: | 13602226 | ||||||||
Promoter ID: | EPDNEW_H27297 | ||||||||
Type: | initiation region | ||||||||
Name: | STX16_3 | ||||||||
Description: | syntaxin 16 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H27291 EPDNEW_H27292 EPDNEW_H27293 EPDNEW_H27294 EPDNEW_H27295 EPDNEW_H27296 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:11431 | AgrOrtholog |
COSMIC | STX16 | COSMIC |
Ensembl Genes | ENSG00000124222 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000312283.12 | UniProtKB/TrEMBL |
ENST00000355957 | ENTREZGENE | |
ENST00000355957.9 | UniProtKB/Swiss-Prot | |
ENST00000358029 | ENTREZGENE | |
ENST00000358029.8 | UniProtKB/Swiss-Prot | |
ENST00000359617 | ENTREZGENE | |
ENST00000359617.8 | UniProtKB/Swiss-Prot | |
ENST00000371132 | ENTREZGENE | |
ENST00000371132.8 | UniProtKB/Swiss-Prot | |
ENST00000371141 | ENTREZGENE | |
ENST00000371141.8 | UniProtKB/Swiss-Prot | |
ENST00000412911.5 | UniProtKB/TrEMBL | |
ENST00000438253.1 | UniProtKB/TrEMBL | |
ENST00000458280.5 | UniProtKB/TrEMBL | |
ENST00000460655.5 | UniProtKB/TrEMBL | |
ENST00000464640.5 | UniProtKB/TrEMBL | |
ENST00000467096.5 | UniProtKB/Swiss-Prot | |
ENST00000476384.5 | UniProtKB/TrEMBL | |
ENST00000483434.5 | UniProtKB/TrEMBL | |
ENST00000493301.5 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.20.5.110 | UniProtKB/TrEMBL |
1.20.58.70 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GTEx | ENSG00000124222 | GTEx |
HGNC ID | HGNC:11431 | ENTREZGENE |
Human Proteome Map | STX16 | Human Proteome Map |
InterPro | SNARE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Syntaxin | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Syntaxin/epimorphin_CS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Syntaxin_N | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
T_SNARE_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:8675 | UniProtKB/Swiss-Prot |
NCBI Gene | 8675 | ENTREZGENE |
OMIM | 603666 | OMIM |
PANTHER | PTHR19957 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR19957:SF83 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | SNARE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Syntaxin | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA36231 | PharmGKB |
PROSITE | SYNTAXIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
T_SNARE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SMART | t_SNARE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SNARE fusion complex | UniProtKB/TrEMBL |
SSF47661 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | A6NK32 | ENTREZGENE |
A6NN69 | ENTREZGENE | |
A8MPP0 | ENTREZGENE | |
B4DJX9_HUMAN | UniProtKB/TrEMBL | |
B4E3U3 | ENTREZGENE, UniProtKB/TrEMBL | |
B7ZBM4_HUMAN | UniProtKB/TrEMBL | |
B7ZBM5_HUMAN | UniProtKB/TrEMBL | |
B7ZBM8_HUMAN | UniProtKB/TrEMBL | |
B7ZBN1 | ENTREZGENE | |
B7ZBN2 | ENTREZGENE | |
B7ZBN3 | ENTREZGENE | |
E1P5M0 | ENTREZGENE | |
E1P607 | ENTREZGENE | |
E9PLV7_HUMAN | UniProtKB/TrEMBL | |
E9PND6_HUMAN | UniProtKB/TrEMBL | |
F8W9Z6_HUMAN | UniProtKB/TrEMBL | |
H0YEW0_HUMAN | UniProtKB/TrEMBL | |
O14661 | ENTREZGENE | |
O14662 | ENTREZGENE | |
O14663 | ENTREZGENE | |
O60517 | ENTREZGENE | |
Q5W084 | ENTREZGENE | |
Q5W086 | ENTREZGENE | |
Q5W087 | ENTREZGENE | |
Q5XKI6 | ENTREZGENE | |
Q6GMS8 | ENTREZGENE | |
Q96NX8_HUMAN | UniProtKB/TrEMBL | |
Q9H0Z0 | ENTREZGENE | |
Q9H1T7 | ENTREZGENE | |
Q9H1T8 | ENTREZGENE | |
Q9UIX5 | ENTREZGENE | |
STX16_HUMAN | UniProtKB/Swiss-Prot | |
UniProt Secondary | A6NK32 | UniProtKB/Swiss-Prot |
A6NN69 | UniProtKB/Swiss-Prot | |
A8MPP0 | UniProtKB/Swiss-Prot | |
B7ZBN1 | UniProtKB/Swiss-Prot | |
B7ZBN2 | UniProtKB/Swiss-Prot | |
B7ZBN3 | UniProtKB/Swiss-Prot | |
E1P5M0 | UniProtKB/Swiss-Prot | |
E1P607 | UniProtKB/Swiss-Prot | |
O14661 | UniProtKB/Swiss-Prot | |
O14663 | UniProtKB/Swiss-Prot | |
O60517 | UniProtKB/Swiss-Prot | |
Q5W084 | UniProtKB/Swiss-Prot | |
Q5W086 | UniProtKB/Swiss-Prot | |
Q5W087 | UniProtKB/Swiss-Prot | |
Q5XKI6 | UniProtKB/Swiss-Prot | |
Q6GMS8 | UniProtKB/Swiss-Prot | |
Q9H0Z0 | UniProtKB/Swiss-Prot | |
Q9H1T7 | UniProtKB/Swiss-Prot | |
Q9H1T8 | UniProtKB/Swiss-Prot | |
Q9UIX5 | UniProtKB/Swiss-Prot |