GSDME (gasdermin E) - Rat Genome Database

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Gene: GSDME (gasdermin E) Homo sapiens
Analyze
Symbol: GSDME
Name: gasdermin E
RGD ID: 1349553
HGNC Page HGNC:2810
Description: Enables cardiolipin binding activity; phosphatidylinositol-4,5-bisphosphate binding activity; and wide pore channel activity. Involved in several processes, including cellular response to tumor necrosis factor; granzyme-mediated programmed cell death signaling pathway; and positive regulation of intracellular signal transduction. Located in cytosol and plasma membrane. Is active in membrane. Implicated in autosomal dominant nonsyndromic deafness 5 and sensorineural hearing loss.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: deafness, autosomal dominant 5; DFNA5; DFNA5, deafness associated tumor suppressor; gasdermin-E; ICERE-1; inversely correlated with estrogen receptor expression 1; LOC107986779; non-syndromic hearing impairment protein 5; nonsyndromic hearing impairment protein; uncharacterized LOC107986779
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38724,698,355 - 24,795,539 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl724,698,355 - 24,757,940 (-)EnsemblGRCh38hg38GRCh38
GRCh37724,737,974 - 24,797,558 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36724,704,499 - 24,764,164 (-)NCBINCBI36Build 36hg18NCBI36
Build 34724,511,214 - 24,570,603NCBI
Celera724,726,449 - 24,786,103 (-)NCBICelera
Cytogenetic Map7p15.3NCBI
HuRef724,622,538 - 24,682,209 (-)NCBIHuRef
CHM1_1724,739,537 - 24,799,201 (-)NCBICHM1_1
T2T-CHM13v2.0724,836,367 - 24,933,504 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2724,789,534 - 24,849,193 (-)NCBI
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
(-)-epigallocatechin 3-gallate  (EXP)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-tribromophenol  (EXP)
2,4-diaminotoluene  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
3-methylcholanthrene  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
6alpha-methylprednisolone  (EXP)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (ISO)
aristolochic acid A  (EXP,ISO)
arsenite(3-)  (ISO)
arsenous acid  (EXP)
azathioprine  (EXP)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
Benzo[k]fluoranthene  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
caffeine  (EXP)
Calpeptin  (EXP)
carbon nanotube  (ISO)
carnosic acid  (ISO)
CGP 52608  (EXP)
chloropicrin  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
chromium(6+)  (EXP)
cisplatin  (EXP,ISO)
cobalt dichloride  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
deoxynivalenol  (EXP,ISO)
dexamethasone  (EXP,ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dihydroartemisinin  (EXP)
disulfiram  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
entinostat  (EXP)
ethyl methanesulfonate  (EXP)
fluoranthene  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
fulvestrant  (EXP)
ivermectin  (EXP)
L-methionine  (ISO)
lead(0)  (EXP)
maneb  (ISO)
menadione  (EXP)
methimazole  (ISO)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
N-acetyl-L-cysteine  (EXP)
N-ethyl-N-nitrosourea  (ISO)
N-methylformamide  (ISO)
N-nitrosodimethylamine  (EXP)
Nitidine  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorooctanoic acid  (EXP)
pirinixic acid  (ISO)
piroxicam  (EXP)
potassium chromate  (EXP)
potassium dichromate  (EXP)
prednisolone  (EXP)
progesterone  (EXP)
propiconazole  (ISO)
quercetin  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
silicon dioxide  (ISO)
sodium arsenite  (ISO)
sodium aurothiomalate  (EXP)
sulfadimethoxine  (ISO)
sunitinib  (EXP)
temozolomide  (EXP)
thioacetamide  (ISO)
tributylstannane  (ISO)
trichostatin A  (EXP)
tris(2-butoxyethyl) phosphate  (EXP)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IBA,IEA)
cytosol  (IDA,IEA,TAS)
membrane  (IDA,IEA)
plasma membrane  (IDA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# 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
6. Nonsyndromic hearing impairment is associated with a mutation in DFNA5. Van Laer L, etal., Nat Genet. 1998 Oct;20(2):194-7.
Additional References at PubMed
PMID:8589696   PMID:8619474   PMID:9110174   PMID:9450185   PMID:9523727   PMID:11058868   PMID:12461698   PMID:12477932   PMID:12853124   PMID:12853948   PMID:14559215   PMID:14676472  
PMID:14702039   PMID:15489334   PMID:16169070   PMID:16344560   PMID:16897187   PMID:17427029   PMID:17616391   PMID:17868390   PMID:18029348   PMID:18223688   PMID:18346456   PMID:19911014  
PMID:20301607   PMID:20379614   PMID:20403915   PMID:20467437   PMID:21522185   PMID:21805831   PMID:21873635   PMID:22493364   PMID:23414517   PMID:23956138   PMID:24154762   PMID:24506266  
PMID:24933359   PMID:25921289   PMID:26186194   PMID:26236191   PMID:26365971   PMID:26400775   PMID:28045099   PMID:28404884   PMID:28459430   PMID:28514442   PMID:28986522   PMID:29183726  
PMID:29266521   PMID:29682089   PMID:29849037   PMID:30061362   PMID:30091681   PMID:30564238   PMID:30710195   PMID:30976076   PMID:30993897   PMID:31519766   PMID:31586073   PMID:31953257  
PMID:32188940   PMID:32296183   PMID:32296846   PMID:32486382   PMID:32839451   PMID:33004249   PMID:33186472   PMID:33422423   PMID:33542198   PMID:33689708   PMID:33852854   PMID:33961781  
PMID:33979579   PMID:34133932   PMID:34256094   PMID:34273529   PMID:34369076   PMID:34433433   PMID:34476497   PMID:34480835   PMID:34553845   PMID:34571081   PMID:34666646   PMID:35002520  
PMID:35148998   PMID:35156780   PMID:35292781   PMID:35339492   PMID:35594856   PMID:35640035   PMID:35863214   PMID:35923131   PMID:35972780   PMID:36168628   PMID:36215168   PMID:36411454  
PMID:36607699   PMID:37085908   PMID:37438979   PMID:37774976   PMID:38429278  


Genomics

Comparative Map Data
GSDME
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38724,698,355 - 24,795,539 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl724,698,355 - 24,757,940 (-)EnsemblGRCh38hg38GRCh38
GRCh37724,737,974 - 24,797,558 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36724,704,499 - 24,764,164 (-)NCBINCBI36Build 36hg18NCBI36
Build 34724,511,214 - 24,570,603NCBI
Celera724,726,449 - 24,786,103 (-)NCBICelera
Cytogenetic Map7p15.3NCBI
HuRef724,622,538 - 24,682,209 (-)NCBIHuRef
CHM1_1724,739,537 - 24,799,201 (-)NCBICHM1_1
T2T-CHM13v2.0724,836,367 - 24,933,504 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2724,789,534 - 24,849,193 (-)NCBI
Gsdme
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39650,167,013 - 50,240,837 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl650,165,868 - 50,240,842 (-)EnsemblGRCm39 Ensembl
GRCm38650,207,401 - 50,263,857 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl650,188,888 - 50,263,862 (-)EnsemblGRCm38mm10GRCm38
MGSCv37650,157,402 - 50,211,768 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36650,136,989 - 50,191,355 (-)NCBIMGSCv36mm8
Celera650,724,199 - 50,778,504 (-)NCBICelera
Cytogenetic Map6B2.3NCBI
cM Map624.13NCBI
Gsdme
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8480,590,344 - 80,651,943 (-)NCBIGRCr8
mRatBN7.2479,258,799 - 79,321,129 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl479,257,804 - 79,320,806 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx484,481,566 - 84,538,385 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0480,257,093 - 80,313,918 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0478,697,400 - 78,754,225 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0479,934,075 - 79,999,678 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl479,934,887 - 79,989,572 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04144,606,016 - 144,670,696 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4478,431,841 - 78,492,217 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1478,707,973 - 78,721,124 (-)NCBI
Celera474,170,353 - 74,229,548 (-)NCBICelera
Cytogenetic Map4q24NCBI
Gsdme
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541026,701,893 - 26,769,989 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541026,700,977 - 26,761,683 (-)NCBIChiLan1.0ChiLan1.0
GSDME
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2629,555,469 - 29,615,294 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1777,880,196 - 77,940,638 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0725,373,485 - 25,433,001 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1724,977,838 - 25,039,525 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl724,977,838 - 25,039,525 (-)Ensemblpanpan1.1panPan2
GSDME
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11438,210,975 - 38,286,729 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1438,211,540 - 38,292,280 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1437,761,175 - 37,836,931 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01438,147,520 - 38,223,342 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1438,147,531 - 38,220,379 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11438,261,120 - 38,336,198 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01437,953,705 - 38,029,068 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01438,295,918 - 38,371,682 (-)NCBIUU_Cfam_GSD_1.0
Gsdme
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511882,443,029 - 82,508,175 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049364781,655,487 - 1,720,996 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GSDME
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1847,526,797 - 47,583,731 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11847,524,637 - 47,583,748 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21852,434,841 - 52,489,985 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GSDME
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12133,611,068 - 33,671,497 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2133,612,013 - 33,672,461 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604270,981,267 - 71,041,514 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gsdme
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247395,798,771 - 5,871,088 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247395,790,372 - 5,879,979 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GSDME
293 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NG_011593.1:g.55397_56585delins59701_59837invGCCCA complex Autosomal dominant nonsyndromic hearing loss 5 [RCV000002171] Chr7:7p15 pathogenic
GSMDE, 3-BP DEL, IVS7, -17CTT deletion Autosomal dominant nonsyndromic hearing loss 5 [RCV000002172] Chr7:7p15 pathogenic
NM_004403.3(GSDME):c.991-6C>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV000002173] Chr7:24706382 [GRCh38]
Chr7:24746001 [GRCh37]
Chr7:7p15.3		 pathogenic
NM_004403.3(GSDME):c.1183+4A>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV000002174] Chr7:24706180 [GRCh38]
Chr7:24745799 [GRCh37]
Chr7:7p15.3		 pathogenic
NM_001127453.2(GSDME):c.686dup (p.Asp229fs) duplication not specified [RCV000602931] Chr7:24717264..24717265 [GRCh38]
Chr7:24756883..24756884 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.1183+9A>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV000287752]|GSDME-related condition [RCV003924922]|not provided [RCV000897998]|not specified [RCV000037969] Chr7:24706175 [GRCh38]
Chr7:24745794 [GRCh37]
Chr7:7p15.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001127453.2(GSDME):c.1199C>T (p.Ala400Val) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV000382370]|not provided [RCV000842623]|not specified [RCV000037970] Chr7:24702818 [GRCh38]
Chr7:24742437 [GRCh37]
Chr7:7p15.3		 benign|likely benign
NM_001127453.2(GSDME):c.1200A>G (p.Ala400=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV000346464]|not provided [RCV002228126]|not specified [RCV000037971] Chr7:24702817 [GRCh38]
Chr7:24742436 [GRCh37]
Chr7:7p15.3		 benign|likely benign
NM_001127453.2(GSDME):c.1334T>A (p.Phe445Tyr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV000330799]|not provided [RCV000948760]|not specified [RCV000037972] Chr7:24699183 [GRCh38]
Chr7:24738802 [GRCh37]
Chr7:7p15.3		 benign|likely benign
NM_001127453.2(GSDME):c.405-15G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV000400209]|not provided [RCV001675593]|not specified [RCV000037973] Chr7:24719233 [GRCh38]
Chr7:24758852 [GRCh37]
Chr7:7p15.3		 benign|likely benign
NM_001127453.2(GSDME):c.424C>A (p.Pro142Thr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV000279194]|not provided [RCV002228127]|not specified [RCV000037974] Chr7:24719199 [GRCh38]
Chr7:24758818 [GRCh37]
Chr7:7p15.3		 benign|likely benign
NM_001127453.2(GSDME):c.447A>G (p.Glu149=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV000397241]|not provided [RCV002228128]|not specified [RCV000037975] Chr7:24719176 [GRCh38]
Chr7:24758795 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.489G>A (p.Thr163=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV000282682]|not provided [RCV002228129]|not specified [RCV000037976] Chr7:24719134 [GRCh38]
Chr7:24758753 [GRCh37]
Chr7:7p15.3		 benign|likely benign
NM_001127453.2(GSDME):c.577-15C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV000379663]|not provided [RCV001582511]|not specified [RCV000037977] Chr7:24717389 [GRCh38]
Chr7:24757008 [GRCh37]
Chr7:7p15.3		 benign|likely benign
NM_001127453.2(GSDME):c.619G>A (p.Val207Met) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV000329308]|not provided [RCV002228130]|not specified [RCV000037978] Chr7:24717332 [GRCh38]
Chr7:24756951 [GRCh37]
Chr7:7p15.3		 benign|likely benign
NM_001127453.2(GSDME):c.863-6T>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV000298605]|not provided [RCV002228131]|not specified [RCV000037979] Chr7:24708260 [GRCh38]
Chr7:24747879 [GRCh37]
Chr7:7p15.3		 benign|likely benign
NM_001127453.2(GSDME):c.969A>G (p.Leu323=) single nucleotide variant not specified [RCV000037980] Chr7:24708148 [GRCh38]
Chr7:24747767 [GRCh37]
Chr7:7p15.3		 likely benign
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 copy number gain See cases [RCV000051159] Chr7:54185..41875885 [GRCh38]
Chr7:54185..41915483 [GRCh37]
Chr7:149268..41882008 [NCBI36]
Chr7:7p22.3-14.1		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 copy number gain See cases [RCV000053530] Chr7:54185..37089712 [GRCh38]
Chr7:54185..37129317 [GRCh37]
Chr7:149268..37095842 [NCBI36]
Chr7:7p22.3-14.2		 pathogenic
GRCh38/hg38 7p21.2-15.2(chr7:16234212-26167278)x3 copy number gain See cases [RCV000053531] Chr7:16234212..26167278 [GRCh38]
Chr7:16273837..26206898 [GRCh37]
Chr7:16240362..26173423 [NCBI36]
Chr7:7p21.2-15.2		 pathogenic
GRCh38/hg38 7p21.1-15.2(chr7:20210912-27849400)x1 copy number loss See cases [RCV000134333] Chr7:20210912..27849400 [GRCh38]
Chr7:20250535..27889019 [GRCh37]
Chr7:20217060..27855544 [NCBI36]
Chr7:7p21.1-15.2		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3 copy number gain See cases [RCV000136557] Chr7:54185..26827634 [GRCh38]
Chr7:54185..26867253 [GRCh37]
Chr7:149268..26833778 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1 copy number loss See cases [RCV000136775] Chr7:20561456..32005143 [GRCh38]
Chr7:20601079..32044755 [GRCh37]
Chr7:20567604..32011280 [NCBI36]
Chr7:7p21.1-14.3		 pathogenic
GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3 copy number gain See cases [RCV000136649] Chr7:5682209..27230311 [GRCh38]
Chr7:5721840..27269930 [GRCh37]
Chr7:5688366..27236455 [NCBI36]
Chr7:7p22.1-15.2		 pathogenic
GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3 copy number gain See cases [RCV000137824] Chr7:45130..25221165 [GRCh38]
Chr7:45130..25260784 [GRCh37]
Chr7:140213..25227309 [NCBI36]
Chr7:7p22.3-15.3		 pathogenic
GRCh38/hg38 7p21.2-15.3(chr7:15533812-24851432)x1 copy number loss See cases [RCV000137924] Chr7:15533812..24851432 [GRCh38]
Chr7:15573437..24891051 [GRCh37]
Chr7:15539962..24857576 [NCBI36]
Chr7:7p21.2-15.3		 pathogenic
GRCh38/hg38 7p15.3-15.2(chr7:23765383-26136158)x1 copy number loss See cases [RCV000138258] Chr7:23765383..26136158 [GRCh38]
Chr7:23805002..26175778 [GRCh37]
Chr7:23771527..26142303 [NCBI36]
Chr7:7p15.3-15.2		 likely pathogenic|uncertain significance
GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3 copy number gain See cases [RCV000143060] Chr7:1698124..27207295 [GRCh38]
Chr7:1737760..27246914 [GRCh37]
Chr7:1704286..27213439 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1 copy number loss See cases [RCV000142708] Chr7:10610069..25760560 [GRCh38]
Chr7:10649696..25800180 [GRCh37]
Chr7:10616221..25766705 [NCBI36]
Chr7:7p21.3-15.2		 pathogenic
GRCh38/hg38 7p15.3(chr7:24539631-24756793)x1 copy number loss See cases [RCV000143642] Chr7:24539631..24756793 [GRCh38]
Chr7:24579250..24796412 [GRCh37]
Chr7:24545775..24762937 [NCBI36]
Chr7:7p15.3		 uncertain significance
GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3 copy number gain See cases [RCV000143586] Chr7:43360..27196404 [GRCh38]
Chr7:43360..27236023 [GRCh37]
Chr7:138443..27202548 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
NM_001127453.2(GSDME):c.991T>C (p.Cys331Arg) single nucleotide variant not provided [RCV003727627]|not specified [RCV000155903] Chr7:24706376 [GRCh38]
Chr7:24745995 [GRCh37]
Chr7:7p15.3		 likely benign|uncertain significance
NM_004403.3(GSDME):c.862+10dup duplication not specified [RCV000155927] Chr7:24710213..24710214 [GRCh38]
Chr7:24749832..24749833 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.1355T>C (p.Phe452Ser) single nucleotide variant not specified [RCV000150384] Chr7:24699162 [GRCh38]
Chr7:24738781 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.1274ATG[1] (p.Asp426del) microsatellite Autosomal dominant nonsyndromic hearing loss 5 [RCV000770769]|GSDME-related condition [RCV003907418]|Nonsyndromic Hearing Loss, Mixed [RCV000385779]|not provided [RCV002228539]|not specified [RCV000150385] Chr7:24699238..24699240 [GRCh38]
Chr7:24738857..24738859 [GRCh37]
Chr7:7p15.3		 likely pathogenic|benign|likely benign|uncertain significance
NM_001127453.2(GSDME):c.826T>C (p.Ser276Pro) single nucleotide variant not specified [RCV000150386] Chr7:24710260 [GRCh38]
Chr7:24749879 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.1416G>A (p.Lys472=) single nucleotide variant not specified [RCV000156360] Chr7:24699101 [GRCh38]
Chr7:24738720 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.991-21TTC[2] microsatellite Autosomal dominant nonsyndromic hearing loss 5 [RCV001808425]|Rare genetic deafness [RCV000156800]|not provided [RCV001092560] Chr7:24706389..24706391 [GRCh38]
Chr7:24746008..24746010 [GRCh37]
Chr7:7p15.3		 pathogenic
NM_001127453.2(GSDME):c.1218T>C (p.Thr406=) single nucleotide variant not specified [RCV000156888] Chr7:24702799 [GRCh38]
Chr7:24742418 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.405-12T>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV000352584]|not provided [RCV001534180]|not specified [RCV000150387] Chr7:24719230 [GRCh38]
Chr7:24758849 [GRCh37]
Chr7:7p15.3		 benign|likely benign
NM_001127453.2(GSDME):c.1122C>T (p.Pro374=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV000303145]|not provided [RCV000724416]|not specified [RCV000155076] Chr7:24706245 [GRCh38]
Chr7:24745864 [GRCh37]
Chr7:7p15.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127453.2(GSDME):c.658G>A (p.Gly220Ser) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV000274170]|not provided [RCV000952918]|not specified [RCV000155077] Chr7:24717293 [GRCh38]
Chr7:24756912 [GRCh37]
Chr7:7p15.3		 benign|likely benign
NM_001127453.2(GSDME):c.1118G>A (p.Gly373Asp) single nucleotide variant not provided [RCV001568973]|not specified [RCV000155078] Chr7:24706249 [GRCh38]
Chr7:24745868 [GRCh37]
Chr7:7p15.3		 likely benign|uncertain significance
NM_001127453.2(GSDME):c.553G>A (p.Gly185Ser) single nucleotide variant Inborn genetic diseases [RCV004019855]|not provided [RCV001795279]|not specified [RCV000155079] Chr7:24719070 [GRCh38]
Chr7:24758689 [GRCh37]
Chr7:7p15.3		 uncertain significance
GRCh37/hg19 7p15.3-14.3(chr7:22935369-32621975)x1 copy number loss See cases [RCV000240125] Chr7:22935369..32621975 [GRCh37]
Chr7:7p15.3-14.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_001127453.2(GSDME):c.712C>T (p.Arg238Ter) single nucleotide variant not provided [RCV000767142]|not specified [RCV000216130] Chr7:24710374 [GRCh38]
Chr7:24749993 [GRCh37]
Chr7:7p15.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001127453.2(GSDME):c.830C>T (p.Ser277Phe) single nucleotide variant not specified [RCV000218679] Chr7:24710256 [GRCh38]
Chr7:24749875 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_004403.2(GSDME):c.(?_863)-60_(1257_?)+61del deletion Rare genetic deafness [RCV000221030] Chr7:24702699..24708314 [GRCh38]
Chr7:24742318..24747933 [GRCh37]
Chr7:7p15.3		 likely pathogenic
NM_001127453.2(GSDME):c.570G>A (p.Thr190=) single nucleotide variant not specified [RCV000221097] Chr7:24719053 [GRCh38]
Chr7:24758672 [GRCh37]
Chr7:7p15.3		 likely benign
NM_004403.3(GSDME):c.119dup (p.Lys41fs) duplication GSDME-related condition [RCV003937850]|Nonsyndromic genetic hearing loss [RCV001544543]|not provided [RCV000963202]|not specified [RCV000214538] Chr7:24749655..24749656 [GRCh38]
Chr7:24789274..24789275 [GRCh37]
Chr7:7p15.3		 benign|likely benign|uncertain significance
NM_001127453.2(GSDME):c.934G>A (p.Asp312Asn) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV001163504]|not provided [RCV002519604]|not specified [RCV000214775] Chr7:24708183 [GRCh38]
Chr7:24747802 [GRCh37]
Chr7:7p15.3		 benign|likely benign|uncertain significance
NM_001127453.2(GSDME):c.212-6T>A single nucleotide variant not specified [RCV000223065] Chr7:24744760 [GRCh38]
Chr7:24784379 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.87T>A (p.Asp29Glu) single nucleotide variant not provided [RCV001753640]|not specified [RCV000221749] Chr7:24749688 [GRCh38]
Chr7:24789307 [GRCh37]
Chr7:7p15.3		 benign|likely benign
NM_001127453.2(GSDME):c.1213G>A (p.Gly405Ser) single nucleotide variant not specified [RCV000219407] Chr7:24702804 [GRCh38]
Chr7:24742423 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.1017G>A (p.Ser339=) single nucleotide variant not specified [RCV000605275] Chr7:24706350 [GRCh38]
Chr7:24745969 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.611A>T (p.Asp204Val) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV000270022]|Hearing impairment [RCV001375130]|not provided [RCV001358026] Chr7:24717340 [GRCh38]
Chr7:24756959 [GRCh37]
Chr7:7p15.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127453.2(GSDME):c.766G>A (p.Asp256Asn) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV000313993]|not provided [RCV002512087] Chr7:24710320 [GRCh38]
Chr7:24749939 [GRCh37]
Chr7:7p15.3		 likely benign|uncertain significance
NM_001127453.2(GSDME):c.544G>A (p.Gly182Ser) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV000321436] Chr7:24719079 [GRCh38]
Chr7:24758698 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.325G>A (p.Val109Ile) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV000367761]|not provided [RCV002286731] Chr7:24744641 [GRCh38]
Chr7:24784260 [GRCh37]
Chr7:7p15.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001127453.2(GSDME):c.685G>A (p.Asp229Asn) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV000368779] Chr7:24717266 [GRCh38]
Chr7:24756885 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.782G>A (p.Arg261Gln) single nucleotide variant Inborn genetic diseases [RCV004022046]|Nonsyndromic Hearing Loss, Mixed [RCV000353538]|not provided [RCV002524529] Chr7:24710304 [GRCh38]
Chr7:24749923 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.*326C>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV000398373] Chr7:24698700 [GRCh38]
Chr7:24738319 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.576+13G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV000285213]|not provided [RCV002229981] Chr7:24719034 [GRCh38]
Chr7:24758653 [GRCh37]
Chr7:7p15.3		 benign|likely benign|uncertain significance
NM_001127453.2(GSDME):c.*537C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV000372352] Chr7:24698489 [GRCh38]
Chr7:24738108 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.1156G>A (p.Ala386Thr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV000399237] Chr7:24706211 [GRCh38]
Chr7:24745830 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.*321T>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV000304757] Chr7:24698705 [GRCh38]
Chr7:24738324 [GRCh37]
Chr7:7p15.3		 likely benign|uncertain significance
NM_001127453.2(GSDME):c.*448T>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV000347750] Chr7:24698578 [GRCh38]
Chr7:24738197 [GRCh37]
Chr7:7p15.3		 benign|likely benign
NM_001127453.2(GSDME):c.480G>C (p.Gln160His) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV000337658]|not provided [RCV001591025] Chr7:24719143 [GRCh38]
Chr7:24758762 [GRCh37]
Chr7:7p15.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127453.2(GSDME):c.*273C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV000359453]|not provided [RCV001672690] Chr7:24698753 [GRCh38]
Chr7:24738372 [GRCh37]
Chr7:7p15.3		 benign|likely benign
NM_001127453.2(GSDME):c.*505del deletion Nonsyndromic Hearing Loss, Mixed [RCV000351521] Chr7:24698521 [GRCh38]
Chr7:24738140 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.528C>T (p.Val176=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV000376100]|not provided [RCV002229982] Chr7:24719095 [GRCh38]
Chr7:24758714 [GRCh37]
Chr7:7p15.3		 benign|likely benign
NM_001127453.2(GSDME):c.864G>A (p.Ala288=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV000401247]|GSDME-related condition [RCV003912541]|not provided [RCV000840000]|not specified [RCV000606704] Chr7:24708253 [GRCh38]
Chr7:24747872 [GRCh37]
Chr7:7p15.3		 benign|likely benign
NM_001127453.2(GSDME):c.*429T>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV000402128] Chr7:24698597 [GRCh38]
Chr7:24738216 [GRCh37]
Chr7:7p15.3		 likely benign|uncertain significance
NM_001127453.2(GSDME):c.1179C>T (p.Leu393=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV000342766]|not provided [RCV002229907]|not specified [RCV000825743] Chr7:24706188 [GRCh38]
Chr7:24745807 [GRCh37]
Chr7:7p15.3		 likely benign|uncertain significance
NM_001127453.2(GSDME):c.1348C>T (p.Arg450Cys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV000275680]|not provided [RCV001718777] Chr7:24699169 [GRCh38]
Chr7:24738788 [GRCh37]
Chr7:7p15.3		 benign|likely benign|uncertain significance
NM_001127453.2(GSDME):c.*481G>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV000292870] Chr7:24698545 [GRCh38]
Chr7:24738164 [GRCh37]
Chr7:7p15.3		 benign|likely benign
NM_001127453.2(GSDME):c.*72C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV000355586] Chr7:24698954 [GRCh38]
Chr7:24738573 [GRCh37]
Chr7:7p15.3		 likely benign
NM_004403.2(GSDME):c.-329G>A single nucleotide variant Nonsyndromic Hearing Loss, Mixed [RCV000324574] Chr7:24758016 [GRCh38]
Chr7:24797635 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.*30C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV000260512]|not provided [RCV001537585] Chr7:24698996 [GRCh38]
Chr7:24738615 [GRCh37]
Chr7:7p15.3		 benign|likely benign
NM_001127453.2(GSDME):c.*346G>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV000308064] Chr7:24698680 [GRCh38]
Chr7:24738299 [GRCh37]
Chr7:7p15.3		 likely benign|uncertain significance
NM_001127453.2(GSDME):c.584C>T (p.Ala195Val) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV000325048] Chr7:24717367 [GRCh38]
Chr7:24756986 [GRCh37]
Chr7:7p15.3		 likely benign|uncertain significance
NM_001127453.2(GSDME):c.*333T>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV000344395] Chr7:24698693 [GRCh38]
Chr7:24738312 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.612C>T (p.Asp204=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV000365327]|not provided [RCV001613197] Chr7:24717339 [GRCh38]
Chr7:24756958 [GRCh37]
Chr7:7p15.3		 benign|likely benign
NM_001127453.2(GSDME):c.119AGA[1] (p.Lys41del) microsatellite Nonsyndromic Hearing Loss, Mixed [RCV000309273] Chr7:24749651..24749653 [GRCh38]
Chr7:24789270..24789272 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.*527C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV000296605] Chr7:24698499 [GRCh38]
Chr7:24738118 [GRCh37]
Chr7:7p15.3		 benign|likely benign
NM_001127453.2(GSDME):c.*24G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV000315721]|not provided [RCV001584083] Chr7:24699002 [GRCh38]
Chr7:24738621 [GRCh37]
Chr7:7p15.3		 likely benign|uncertain significance
NM_001127453.2(GSDME):c.1121C>T (p.Pro374Leu) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV000338470] Chr7:24706246 [GRCh38]
Chr7:24745865 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.1349G>A (p.Arg450His) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV000388864]|not provided [RCV002229980] Chr7:24699168 [GRCh38]
Chr7:24738787 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.225G>A (p.Ser75=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV000390510] Chr7:24744741 [GRCh38]
Chr7:24784360 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_004403.3(GSDME):c.-235C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV000269316] Chr7:24757922 [GRCh38]
Chr7:24797541 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.*607A>G single nucleotide variant Nonsyndromic Hearing Loss, Mixed [RCV000262723] Chr7:24698419 [GRCh38]
Chr7:24738038 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.*260A>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV000264225] Chr7:24698766 [GRCh38]
Chr7:24738385 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127454.2(GSDME):c.-276G>A single nucleotide variant not provided [RCV000357496] Chr7:24744749 [GRCh38]
Chr7:24784368 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.*481_*485dup duplication Nonsyndromic Hearing Loss, Mixed [RCV000387429] Chr7:24698540..24698541 [GRCh38]
Chr7:24738159..24738160 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.772C>T (p.Leu258=) single nucleotide variant Nonsyndromic Hearing Loss, Mixed [RCV000277643] Chr7:24710314 [GRCh38]
Chr7:24749933 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_004403.3(GSDME):c.823A>G (p.Ile275Val) single nucleotide variant GSDME-related condition [RCV003930191]|not provided [RCV000364780] Chr7:24710263 [GRCh38]
Chr7:24749882 [GRCh37]
Chr7:7p15.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127453.2(GSDME):c.469G>A (p.Val157Ile) single nucleotide variant Inborn genetic diseases [RCV003246128] Chr7:24719154 [GRCh38]
Chr7:24758773 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.404+33A>T single nucleotide variant not provided [RCV001565571] Chr7:24744529 [GRCh38]
Chr7:24784148 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.1193_1196dup (p.Ser399delinsArgTer) duplication Autosomal dominant nonsyndromic hearing loss 5 [RCV000490372]|not provided [RCV001566169] Chr7:24702820..24702821 [GRCh38]
Chr7:24742439..24742440 [GRCh37]
Chr7:7p15.3		 likely benign|uncertain significance
NM_004403.3(GSDME):c.1417G>A (p.Asp473Asn) single nucleotide variant not provided [RCV000488393] Chr7:24699100 [GRCh38]
Chr7:24738719 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.1253A>G (p.His418Arg) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV000291443] Chr7:24702764 [GRCh38]
Chr7:24742383 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_004403.3(GSDME):c.-216C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV000363847] Chr7:24757903 [GRCh38]
Chr7:24797522 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.*583T>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV000317848] Chr7:24698443 [GRCh38]
Chr7:24738062 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_004403.2(GSDME):c.-345delG deletion Nonsyndromic Hearing Loss, Mixed [RCV000391718] Chr7:24758032 [GRCh38]
Chr7:24797651 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.*224_*227dup duplication Nonsyndromic Hearing Loss, Mixed [RCV000300706] Chr7:24698798..24698799 [GRCh38]
Chr7:24738417..24738418 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.358A>C (p.Lys120Gln) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV000313145] Chr7:24744608 [GRCh38]
Chr7:24784227 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_004403.3(GSDME):c.1198G>A (p.Ala400Thr) single nucleotide variant Inborn genetic diseases [RCV004024844]|not provided [RCV000591886] Chr7:24702819 [GRCh38]
Chr7:24742438 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127454.2(GSDME):c.-232C>T single nucleotide variant not provided [RCV000730504] Chr7:24744705 [GRCh38]
Chr7:24784324 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_004403.3(GSDME):c.993C>T (p.Cys331=) single nucleotide variant not provided [RCV000591274] Chr7:24706374 [GRCh38]
Chr7:24745993 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.1264G>A (p.Ala422Thr) single nucleotide variant not provided [RCV000523646] Chr7:24699253 [GRCh38]
Chr7:24738872 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_004403.3(GSDME):c.1056G>C (p.Gln352His) single nucleotide variant not provided [RCV000591366] Chr7:24706311 [GRCh38]
Chr7:24745930 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.1089_1113dup (p.Pro372fs) duplication Autosomal dominant nonsyndromic hearing loss 5 [RCV003221318] Chr7:24706253..24706254 [GRCh38]
Chr7:24745872..24745873 [GRCh37]
Chr7:7p15.3		 pathogenic|likely pathogenic
NM_004403.3(GSDME):c.521T>C (p.Met174Thr) single nucleotide variant not provided [RCV000969032]|not specified [RCV000733592] Chr7:24719102 [GRCh38]
Chr7:24758721 [GRCh37]
Chr7:7p15.3		 benign|likely benign
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34		 pathogenic
GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3 copy number gain See cases [RCV000446478] Chr7:11562624..36395416 [GRCh37]
Chr7:7p21.3-14.2		 pathogenic
GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3 copy number gain See cases [RCV000512091] Chr7:11048840..52863626 [GRCh37]
Chr7:7p21.3-12.1		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3 copy number gain See cases [RCV000510275] Chr7:704573..29257946 [GRCh37]
Chr7:7p22.3-14.3		 pathogenic
GRCh37/hg19 7p15.3-14.3(chr7:24344104-28879357)x1 copy number loss See cases [RCV000510695] Chr7:24344104..28879357 [GRCh37]
Chr7:7p15.3-14.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_001127453.2(GSDME):c.456T>G (p.Asn152Lys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV001160230]|Sensorineural hearing loss disorder [RCV000626756] Chr7:24719167 [GRCh38]
Chr7:24758786 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.1150A>G (p.Met384Val) single nucleotide variant Inborn genetic diseases [RCV003257010] Chr7:24706217 [GRCh38]
Chr7:24745836 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.687C>T (p.Asp229=) single nucleotide variant not specified [RCV000615457] Chr7:24717264 [GRCh38]
Chr7:24756883 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.1331G>T (p.Arg444Met) single nucleotide variant not specified [RCV000613288] Chr7:24699186 [GRCh38]
Chr7:24738805 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.1208T>C (p.Leu403Pro) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV001160131]|not provided [RCV000897752]|not specified [RCV000611135] Chr7:24702809 [GRCh38]
Chr7:24742428 [GRCh37]
Chr7:7p15.3		 benign|likely benign
NM_001127453.2(GSDME):c.656A>G (p.Tyr219Cys) single nucleotide variant not specified [RCV000599863] Chr7:24717295 [GRCh38]
Chr7:24756914 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.1183+1G>A single nucleotide variant not provided [RCV000585207] Chr7:24706183 [GRCh38]
Chr7:24745802 [GRCh37]
Chr7:7p15.3		 pathogenic|likely pathogenic
NM_004403.3(GSDME):c.1363G>C (p.Ala455Pro) single nucleotide variant not provided [RCV000513452] Chr7:24699154 [GRCh38]
Chr7:24738773 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.1197C>T (p.Ser399=) single nucleotide variant not provided [RCV000916277]|not specified [RCV000606166] Chr7:24702820 [GRCh38]
Chr7:24742439 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.693G>C (p.Gln231His) single nucleotide variant Inborn genetic diseases [RCV004026020]|not provided [RCV000658029] Chr7:24717258 [GRCh38]
Chr7:24756877 [GRCh37]
Chr7:7p15.3		 uncertain significance
GRCh37/hg19 7p15.3(chr7:24346679-25023700)x3 copy number gain not provided [RCV000682862] Chr7:24346679..25023700 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.212-33A>G single nucleotide variant not provided [RCV001546259] Chr7:24744787 [GRCh38]
Chr7:24784406 [GRCh37]
Chr7:7p15.3		 likely benign
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Childhood apraxia of speech [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_001127453.2(GSDME):c.990+235G>A single nucleotide variant not provided [RCV001724627] Chr7:24707892 [GRCh38]
Chr7:24747511 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.212-32_212-30del deletion not provided [RCV001534939] Chr7:24744784..24744786 [GRCh38]
Chr7:24784403..24784405 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.1184-101C>T single nucleotide variant not provided [RCV001691152] Chr7:24702934 [GRCh38]
Chr7:24742553 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.980T>C (p.Leu327Pro) single nucleotide variant not provided [RCV001569482] Chr7:24708137 [GRCh38]
Chr7:24747756 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.576+101C>T single nucleotide variant not provided [RCV001679216] Chr7:24718946 [GRCh38]
Chr7:24758565 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.697+230T>C single nucleotide variant not provided [RCV001724641] Chr7:24717024 [GRCh38]
Chr7:24756643 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.906G>A (p.Leu302=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV001163798] Chr7:24708211 [GRCh38]
Chr7:24747830 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.635C>T (p.Pro212Leu) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV001163799]|Inborn genetic diseases [RCV004032870]|not provided [RCV003313180] Chr7:24717316 [GRCh38]
Chr7:24756935 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.212-197AC[21] microsatellite not provided [RCV001583415] Chr7:24744923..24744924 [GRCh38]
Chr7:24784542..24784543 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.1443T>C (p.Leu481=) single nucleotide variant not provided [RCV000925506] Chr7:24699074 [GRCh38]
Chr7:24738693 [GRCh37]
Chr7:7p15.3		 likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_001127453.2(GSDME):c.429G>C (p.Val143=) single nucleotide variant not provided [RCV000925170] Chr7:24719194 [GRCh38]
Chr7:24758813 [GRCh37]
Chr7:7p15.3		 likely benign
GRCh37/hg19 7p15.3-14.3(chr7:23877135-33139446)x1 copy number loss not provided [RCV001005924] Chr7:23877135..33139446 [GRCh37]
Chr7:7p15.3-14.3		 pathogenic
NM_001127453.2(GSDME):c.1183+17A>G single nucleotide variant not provided [RCV000832615] Chr7:24706167 [GRCh38]
Chr7:24745786 [GRCh37]
Chr7:7p15.3		 benign|likely benign
NM_001127453.2(GSDME):c.159T>C (p.Phe53=) single nucleotide variant not provided [RCV000975933] Chr7:24749616 [GRCh38]
Chr7:24789235 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.713G>A (p.Arg238Gln) single nucleotide variant not provided [RCV000839996] Chr7:24710373 [GRCh38]
Chr7:24749992 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.938T>C (p.Ile313Thr) single nucleotide variant not specified [RCV000825914] Chr7:24708179 [GRCh38]
Chr7:24747798 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.1183+75G>A single nucleotide variant not provided [RCV000835027] Chr7:24706109 [GRCh38]
Chr7:24745728 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.212-54C>T single nucleotide variant not provided [RCV000843160] Chr7:24744808 [GRCh38]
Chr7:24784427 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.991-70G>C single nucleotide variant not provided [RCV000843161] Chr7:24706446 [GRCh38]
Chr7:24746065 [GRCh37]
Chr7:7p15.3		 benign
NC_000007.13:g.23236782_30690453del7453672 deletion Silver Russell Syndrome-related disorder [RCV000785664] Chr7:23236782..30690453 [GRCh37]
Chr7:7p15.3-14.3		 pathogenic
NM_001127453.2(GSDME):c.1122C>G (p.Pro374=) single nucleotide variant not provided [RCV000991887] Chr7:24706245 [GRCh38]
Chr7:24745864 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.1199_1200inv (p.Ala400Val) inversion not provided [RCV000991888] Chr7:24702817..24702818 [GRCh38]
Chr7:24742436..24742437 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.573G>A (p.Val191=) single nucleotide variant not provided [RCV000975795] Chr7:24719050 [GRCh38]
Chr7:24758669 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.587C>T (p.Thr196Met) single nucleotide variant not provided [RCV001587219]|not specified [RCV001195315] Chr7:24717364 [GRCh38]
Chr7:24756983 [GRCh37]
Chr7:7p15.3		 benign|likely benign
NM_001127453.2(GSDME):c.577G>T (p.Val193Leu) single nucleotide variant Inborn genetic diseases [RCV003270728] Chr7:24717374 [GRCh38]
Chr7:24756993 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.75G>T (p.Leu25=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV001163922]|not provided [RCV002285451] Chr7:24749700 [GRCh38]
Chr7:24789319 [GRCh37]
Chr7:7p15.3		 likely benign|uncertain significance
NM_001127453.2(GSDME):c.1183+86G>A single nucleotide variant not provided [RCV001550911] Chr7:24706098 [GRCh38]
Chr7:24745717 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.1183+168C>A single nucleotide variant not provided [RCV001666178] Chr7:24706016 [GRCh38]
Chr7:24745635 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.1257+251C>T single nucleotide variant not provided [RCV001684194] Chr7:24702509 [GRCh38]
Chr7:24742128 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.1183+135G>C single nucleotide variant not provided [RCV001555593] Chr7:24706049 [GRCh38]
Chr7:24745668 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.697+191dup duplication not provided [RCV001583952] Chr7:24717062..24717063 [GRCh38]
Chr7:24756681..24756682 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.1184-305C>T single nucleotide variant not provided [RCV001561629] Chr7:24703138 [GRCh38]
Chr7:24742757 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.212-280AC[23] microsatellite not provided [RCV001666964] Chr7:24744985..24744988 [GRCh38]
Chr7:24784604..24784607 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.212-280AC[20] microsatellite not provided [RCV001672103] Chr7:24744985..24744994 [GRCh38]
Chr7:24784604..24784613 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.576+21C>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV001661392]|not provided [RCV001676071] Chr7:24719026 [GRCh38]
Chr7:24758645 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.1184-124G>A single nucleotide variant not provided [RCV001688961] Chr7:24702957 [GRCh38]
Chr7:24742576 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.1100T>C (p.Leu367Ser) single nucleotide variant not provided [RCV001594280] Chr7:24706267 [GRCh38]
Chr7:24745886 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.212-17C>T single nucleotide variant not provided [RCV001577683] Chr7:24744771 [GRCh38]
Chr7:24784390 [GRCh37]
Chr7:7p15.3		 benign|likely benign
NM_001127453.2(GSDME):c.212-280AC[21] microsatellite not provided [RCV001685867] Chr7:24744985..24744992 [GRCh38]
Chr7:24784604..24784611 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.698-213del deletion not provided [RCV001620580] Chr7:24710601 [GRCh38]
Chr7:24750220 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.577-202G>A single nucleotide variant not provided [RCV001656581] Chr7:24717576 [GRCh38]
Chr7:24757195 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.211+83C>A single nucleotide variant not provided [RCV001544790] Chr7:24749481 [GRCh38]
Chr7:24789100 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.1183+188T>G single nucleotide variant not provided [RCV001614583] Chr7:24705996 [GRCh38]
Chr7:24745615 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.211+101G>A single nucleotide variant not provided [RCV001618738] Chr7:24749463 [GRCh38]
Chr7:24789082 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.863-37C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV001658356]|not provided [RCV001640057] Chr7:24708291 [GRCh38]
Chr7:24747910 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.211+201C>T single nucleotide variant not provided [RCV001620990] Chr7:24749363 [GRCh38]
Chr7:24788982 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.1257+111T>G single nucleotide variant not provided [RCV001559571] Chr7:24702649 [GRCh38]
Chr7:24742268 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.697+126A>G single nucleotide variant not provided [RCV001715328] Chr7:24717128 [GRCh38]
Chr7:24756747 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.1258-281C>T single nucleotide variant not provided [RCV001592742] Chr7:24699540 [GRCh38]
Chr7:24739159 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.576+247dup duplication not provided [RCV001616564] Chr7:24718798..24718799 [GRCh38]
Chr7:24758417..24758418 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.991-31G>A single nucleotide variant not provided [RCV001547437] Chr7:24706407 [GRCh38]
Chr7:24746026 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.212-197AC[16] microsatellite not provided [RCV001715056] Chr7:24744923..24744924 [GRCh38]
Chr7:24784542..24784543 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.1248G>A (p.Leu416=) single nucleotide variant not provided [RCV000977840] Chr7:24702769 [GRCh38]
Chr7:24742388 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.*299A>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV001158776] Chr7:24698727 [GRCh38]
Chr7:24738346 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.577-12T>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV001158889]|not provided [RCV003769762] Chr7:24717386 [GRCh38]
Chr7:24757005 [GRCh37]
Chr7:7p15.3		 likely benign|uncertain significance
NM_001127453.2(GSDME):c.356G>A (p.Arg119Lys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV001163602]|not provided [RCV003442217] Chr7:24744610 [GRCh38]
Chr7:24784229 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.430C>A (p.Leu144Ile) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV001160231] Chr7:24719193 [GRCh38]
Chr7:24758812 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.1258-304A>G single nucleotide variant not provided [RCV001720912] Chr7:24699563 [GRCh38]
Chr7:24739182 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.212-30G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV001661084]|not provided [RCV001661085] Chr7:24744784 [GRCh38]
Chr7:24784403 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.991-331C>T single nucleotide variant not provided [RCV001577922] Chr7:24706707 [GRCh38]
Chr7:24746326 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.1085_1097dup (p.Leu367fs) duplication not provided [RCV003231678] Chr7:24706269..24706270 [GRCh38]
Chr7:24745888..24745889 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.991-252C>T single nucleotide variant not provided [RCV001688796] Chr7:24706628 [GRCh38]
Chr7:24746247 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.990+250_990+251del deletion not provided [RCV001598257] Chr7:24707876..24707877 [GRCh38]
Chr7:24747495..24747496 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.211+117C>T single nucleotide variant not provided [RCV001552969] Chr7:24749447 [GRCh38]
Chr7:24789066 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.-19-37C>T single nucleotide variant not provided [RCV001656067] Chr7:24749830 [GRCh38]
Chr7:24789449 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.212-61C>A single nucleotide variant not provided [RCV001576039] Chr7:24744815 [GRCh38]
Chr7:24784434 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.577-248T>G single nucleotide variant not provided [RCV001620389] Chr7:24717622 [GRCh38]
Chr7:24757241 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.1183+170C>A single nucleotide variant not provided [RCV001720370] Chr7:24706014 [GRCh38]
Chr7:24745633 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.*32G>A single nucleotide variant not provided [RCV001574104] Chr7:24698994 [GRCh38]
Chr7:24738613 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.404+194G>T single nucleotide variant not provided [RCV001636481] Chr7:24744368 [GRCh38]
Chr7:24783987 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.212-280AC[22] microsatellite not provided [RCV001720910] Chr7:24744985..24744990 [GRCh38]
Chr7:24784604..24784609 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.863-76A>G single nucleotide variant not provided [RCV001572427] Chr7:24708330 [GRCh38]
Chr7:24747949 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.212-197AC[12] microsatellite not provided [RCV001714891] Chr7:24744924..24744927 [GRCh38]
Chr7:24784543..24784546 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.697+33_697+62dup duplication not provided [RCV001598071] Chr7:24717191..24717192 [GRCh38]
Chr7:24756810..24756811 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.1183+184T>A single nucleotide variant not provided [RCV001686817] Chr7:24706000 [GRCh38]
Chr7:24745619 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.1016C>G (p.Ser339Trp) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV001163502]|Inborn genetic diseases [RCV003163355] Chr7:24706351 [GRCh38]
Chr7:24745970 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.939C>T (p.Ile313=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV001163503]|not provided [RCV001619891] Chr7:24708178 [GRCh38]
Chr7:24747797 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.275T>G (p.Leu92Arg) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV001163604] Chr7:24744691 [GRCh38]
Chr7:24784310 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.247A>G (p.Lys83Glu) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV001163605]|not provided [RCV001655690] Chr7:24744719 [GRCh38]
Chr7:24784338 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.*87A>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV001158778]|not provided [RCV001725214] Chr7:24698939 [GRCh38]
Chr7:24738558 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.733G>A (p.Glu245Lys) single nucleotide variant not provided [RCV001092561] Chr7:24710353 [GRCh38]
Chr7:24749972 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.576+222TA[2] microsatellite not provided [RCV001670151] Chr7:24718820..24718821 [GRCh38]
Chr7:24758439..24758440 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.1184-208C>G single nucleotide variant not provided [RCV001590183] Chr7:24703041 [GRCh38]
Chr7:24742660 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.697+17A>G single nucleotide variant not provided [RCV001548237] Chr7:24717237 [GRCh38]
Chr7:24756856 [GRCh37]
Chr7:7p15.3		 benign|likely benign
NM_001127453.2(GSDME):c.404+124C>T single nucleotide variant not provided [RCV001695217] Chr7:24744438 [GRCh38]
Chr7:24784057 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.576+51C>G single nucleotide variant not provided [RCV001652966] Chr7:24718996 [GRCh38]
Chr7:24758615 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.212-197AC[15] microsatellite not provided [RCV001713907] Chr7:24744923..24744924 [GRCh38]
Chr7:24784542..24784543 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.405-301C>T single nucleotide variant not provided [RCV001645918] Chr7:24719519 [GRCh38]
Chr7:24759138 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.577-209G>T single nucleotide variant not provided [RCV001696174] Chr7:24717583 [GRCh38]
Chr7:24757202 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.405-226C>T single nucleotide variant not provided [RCV001681051] Chr7:24719444 [GRCh38]
Chr7:24759063 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.862+87del deletion not provided [RCV001690243] Chr7:24710137 [GRCh38]
Chr7:24749756 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.212-112T>C single nucleotide variant not provided [RCV001695603] Chr7:24744866 [GRCh38]
Chr7:24784485 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.1183+186T>C single nucleotide variant not provided [RCV001650272] Chr7:24705998 [GRCh38]
Chr7:24745617 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.577-237C>T single nucleotide variant not provided [RCV001616575] Chr7:24717611 [GRCh38]
Chr7:24757230 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.991-273G>A single nucleotide variant not provided [RCV001671623] Chr7:24706649 [GRCh38]
Chr7:24746268 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.1184-133G>A single nucleotide variant not provided [RCV001695732] Chr7:24702966 [GRCh38]
Chr7:24742585 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.862+249C>T single nucleotide variant not provided [RCV001670017] Chr7:24709975 [GRCh38]
Chr7:24749594 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.211+50dup duplication not provided [RCV001670101] Chr7:24749497..24749498 [GRCh38]
Chr7:24789116..24789117 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.1183+5G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV001726411]|not provided [RCV002549142]|not specified [RCV001000846] Chr7:24706179 [GRCh38]
Chr7:24745798 [GRCh37]
Chr7:7p15.3		 likely pathogenic|uncertain significance
NM_001127453.2(GSDME):c.294G>A (p.Lys98=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV001163603] Chr7:24744672 [GRCh38]
Chr7:24784291 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.*239T>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV001158777] Chr7:24698787 [GRCh38]
Chr7:24738406 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.*81T>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV001158779] Chr7:24698945 [GRCh38]
Chr7:24738564 [GRCh37]
Chr7:7p15.3		 likely benign
GRCh37/hg19 7p15.3(chr7:24676088-25075802)x3 copy number gain not provided [RCV001005925] Chr7:24676088..25075802 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.212-1G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV001332442] Chr7:24744755 [GRCh38]
Chr7:24784374 [GRCh37]
Chr7:7p15.3		 likely pathogenic|conflicting interpretations of pathogenicity
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_001127453.2(GSDME):c.1173_1174insC (p.Ala392fs) insertion not provided [RCV002239479] Chr7:24706193..24706194 [GRCh38]
Chr7:24745812..24745813 [GRCh37]
Chr7:7p15.3		 pathogenic|uncertain significance
NM_001127453.2(GSDME):c.1429T>G (p.Phe477Val) single nucleotide variant not provided [RCV001294343] Chr7:24699088 [GRCh38]
Chr7:24738707 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.1063del (p.Asp355fs) deletion Deafness, autosomal dominant 5 [RCV001292833] Chr7:24706304 [GRCh38]
Chr7:24745923 [GRCh37]
Chr7:7p15.3		 pathogenic
NM_001127453.2(GSDME):c.1184-62G>A single nucleotide variant not provided [RCV001608892] Chr7:24702895 [GRCh38]
Chr7:24742514 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.1183+177T>A single nucleotide variant not provided [RCV001541636] Chr7:24706007 [GRCh38]
Chr7:24745626 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.-19-313C>G single nucleotide variant not provided [RCV001583640] Chr7:24750106 [GRCh38]
Chr7:24789725 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.212-197AC[7] microsatellite not provided [RCV001612628] Chr7:24744924..24744937 [GRCh38]
Chr7:24784543..24784556 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.404+199del deletion not provided [RCV001649021] Chr7:24744363 [GRCh38]
Chr7:24783982 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.212-280AC[26] microsatellite not provided [RCV001667608] Chr7:24744984..24744985 [GRCh38]
Chr7:24784603..24784604 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.212-280AC[24] microsatellite not provided [RCV001652338] Chr7:24744985..24744986 [GRCh38]
Chr7:24784604..24784605 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.211+50_211+51dup duplication not provided [RCV001716577] Chr7:24749497..24749498 [GRCh38]
Chr7:24789116..24789117 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.991-27T>C single nucleotide variant not provided [RCV001648303] Chr7:24706403 [GRCh38]
Chr7:24746022 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.529G>A (p.Glu177Lys) single nucleotide variant Inborn genetic diseases [RCV004039555]|not provided [RCV001653098] Chr7:24719094 [GRCh38]
Chr7:24758713 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.1102C>G (p.Gln368Glu) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV001726686] Chr7:24706265 [GRCh38]
Chr7:24745884 [GRCh37]
Chr7:7p15.3		 pathogenic
NM_001127453.2(GSDME):c.90G>A (p.Lys30=) single nucleotide variant not provided [RCV003108721] Chr7:24749685 [GRCh38]
Chr7:24789304 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.1278T>C (p.Asp426=) single nucleotide variant not provided [RCV002238371] Chr7:24699239 [GRCh38]
Chr7:24738858 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.1257+20G>T single nucleotide variant not provided [RCV002238372] Chr7:24702740 [GRCh38]
Chr7:24742359 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.1006_1035del (p.Ser336_Leu345del) deletion not provided [RCV002238373] Chr7:24706332..24706361 [GRCh38]
Chr7:24745951..24745980 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.1029G>A (p.Ala343=) single nucleotide variant not provided [RCV002238374] Chr7:24706338 [GRCh38]
Chr7:24745957 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.991-18T>G single nucleotide variant not provided [RCV002238375] Chr7:24706394 [GRCh38]
Chr7:24746013 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.990+16T>A single nucleotide variant not provided [RCV002238376] Chr7:24708111 [GRCh38]
Chr7:24747730 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.974T>C (p.Met325Thr) single nucleotide variant not provided [RCV002238377] Chr7:24708143 [GRCh38]
Chr7:24747762 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.930G>A (p.Leu310=) single nucleotide variant not provided [RCV002238378] Chr7:24708187 [GRCh38]
Chr7:24747806 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.863-16T>C single nucleotide variant not provided [RCV002238380] Chr7:24708270 [GRCh38]
Chr7:24747889 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.833A>C (p.Gln278Pro) single nucleotide variant not provided [RCV002238381] Chr7:24710253 [GRCh38]
Chr7:24749872 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.569C>T (p.Thr190Met) single nucleotide variant Inborn genetic diseases [RCV004047314]|not provided [RCV002238383] Chr7:24719054 [GRCh38]
Chr7:24758673 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.539G>C (p.Cys180Ser) single nucleotide variant not provided [RCV002238384] Chr7:24719084 [GRCh38]
Chr7:24758703 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.1104G>C (p.Gln368His) single nucleotide variant not provided [RCV002239480] Chr7:24706263 [GRCh38]
Chr7:24745882 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.1061A>C (p.Gln354Pro) single nucleotide variant Inborn genetic diseases [RCV004047313]|not provided [RCV002239481] Chr7:24706306 [GRCh38]
Chr7:24745925 [GRCh37]
Chr7:7p15.3		 likely benign|uncertain significance
NM_001127453.2(GSDME):c.1405G>C (p.Val469Leu) single nucleotide variant not provided [RCV002238369] Chr7:24699112 [GRCh38]
Chr7:24738731 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.1306T>C (p.Leu436=) single nucleotide variant not provided [RCV002238370] Chr7:24699211 [GRCh38]
Chr7:24738830 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.900G>A (p.Ala300=) single nucleotide variant not provided [RCV002238379] Chr7:24708217 [GRCh38]
Chr7:24747836 [GRCh37]
Chr7:7p15.3		 likely benign|uncertain significance
NM_001127453.2(GSDME):c.576+16C>T single nucleotide variant not provided [RCV002238382] Chr7:24719031 [GRCh38]
Chr7:24758650 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.488C>T (p.Thr163Met) single nucleotide variant not provided [RCV002238385] Chr7:24719135 [GRCh38]
Chr7:24758754 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.179A>G (p.Asp60Gly) single nucleotide variant not provided [RCV002238386] Chr7:24749596 [GRCh38]
Chr7:24789215 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.178G>A (p.Asp60Asn) single nucleotide variant not provided [RCV002238387] Chr7:24749597 [GRCh38]
Chr7:24789216 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.47A>T (p.Asp16Val) single nucleotide variant Inborn genetic diseases [RCV004047315]|not provided [RCV002238388] Chr7:24749728 [GRCh38]
Chr7:24789347 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.236A>G (p.Lys79Arg) single nucleotide variant not provided [RCV001762971] Chr7:24744730 [GRCh38]
Chr7:24784349 [GRCh37]
Chr7:7p15.3		 uncertain significance
Single allele deletion Kleefstra syndrome 1 [RCV002247732] Chr7:24702714..24720982 [GRCh38]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.732C>T (p.Phe244=) single nucleotide variant not provided [RCV002239482] Chr7:24710354 [GRCh38]
Chr7:24749973 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.698-20C>T single nucleotide variant not provided [RCV002239483] Chr7:24710408 [GRCh38]
Chr7:24750027 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.673T>C (p.Tyr225His) single nucleotide variant not provided [RCV002239484] Chr7:24717278 [GRCh38]
Chr7:24756897 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.346G>A (p.Gly116Arg) single nucleotide variant not provided [RCV002239485] Chr7:24744620 [GRCh38]
Chr7:24784239 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.274C>T (p.Leu92=) single nucleotide variant not provided [RCV002239486] Chr7:24744692 [GRCh38]
Chr7:24784311 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.203C>T (p.Pro68Leu) single nucleotide variant Inborn genetic diseases [RCV003163905]|not provided [RCV003238430] Chr7:24749572 [GRCh38]
Chr7:24789191 [GRCh37]
Chr7:7p15.3		 likely benign|uncertain significance
NM_001127453.2(GSDME):c.314dup (p.Ser106fs) duplication Autosomal dominant nonsyndromic hearing loss 5 [RCV002478022]|GSDME-related condition [RCV003407809]|not provided [RCV001787674] Chr7:24744651..24744652 [GRCh38]
Chr7:24784270..24784271 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.391G>A (p.Asp131Asn) single nucleotide variant not provided [RCV001757169] Chr7:24744575 [GRCh38]
Chr7:24784194 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.698-29C>G single nucleotide variant not provided [RCV001797235] Chr7:24710417 [GRCh38]
Chr7:24750036 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.1292T>C (p.Leu431Pro) single nucleotide variant not provided [RCV001758618] Chr7:24699225 [GRCh38]
Chr7:24738844 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.1258-2_1267del deletion not provided [RCV001756763] Chr7:24699250..24699261 [GRCh38]
Chr7:24738869..24738880 [GRCh37]
Chr7:7p15.3		 uncertain significance
GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167) copy number gain not specified [RCV002053668] Chr7:10745750..35305167 [GRCh37]
Chr7:7p21.3-14.2		 likely pathogenic
GRCh37/hg19 7p15.3(chr7:24423444-24894650) copy number gain not specified [RCV002053675] Chr7:24423444..24894650 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_004403.3(GSDME):c.781C>T (p.Arg261Ter) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV002221705]|not specified [RCV002246696]   pathogenic|uncertain significance
NM_001127453.2(GSDME):c.1472T>C (p.Leu491Ser) single nucleotide variant not provided [RCV003109970] Chr7:24699045 [GRCh38]
Chr7:24738664 [GRCh37]
Chr7:7p15.3		 uncertain significance
NC_000007.13:g.(?_24738645)_(25163738_?)dup duplication not provided [RCV003113470] Chr7:24738645..25163738 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.1289A>T (p.Asp430Val) single nucleotide variant Inborn genetic diseases [RCV003164429]|not provided [RCV002287071] Chr7:24699228 [GRCh38]
Chr7:24738847 [GRCh37]
Chr7:7p15.3		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
NM_001127453.2(GSDME):c.815C>T (p.Ala272Val) single nucleotide variant not provided [RCV003152126] Chr7:24710271 [GRCh38]
Chr7:24749890 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.59T>C (p.Ile20Thr) single nucleotide variant not provided [RCV003128929] Chr7:24749716 [GRCh38]
Chr7:24789335 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.424C>G (p.Pro142Ala) single nucleotide variant Inborn genetic diseases [RCV004067528]|not provided [RCV002461712] Chr7:24719199 [GRCh38]
Chr7:24758818 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.1348C>G (p.Arg450Gly) single nucleotide variant not provided [RCV002780124] Chr7:24699169 [GRCh38]
Chr7:24738788 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.1028C>T (p.Ala343Val) single nucleotide variant not provided [RCV002636228] Chr7:24706339 [GRCh38]
Chr7:24745958 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.1252C>T (p.His418Tyr) single nucleotide variant not provided [RCV003017599] Chr7:24702765 [GRCh38]
Chr7:24742384 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.765G>A (p.Leu255=) single nucleotide variant not provided [RCV002996457] Chr7:24710321 [GRCh38]
Chr7:24749940 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.29T>A (p.Leu10His) single nucleotide variant not provided [RCV002858254] Chr7:24749746 [GRCh38]
Chr7:24789365 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.1284A>G (p.Val428=) single nucleotide variant not provided [RCV003053822] Chr7:24699233 [GRCh38]
Chr7:24738852 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.325G>C (p.Val109Leu) single nucleotide variant Inborn genetic diseases [RCV004070128]|not provided [RCV003037084] Chr7:24744641 [GRCh38]
Chr7:24784260 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.698-20C>A single nucleotide variant not provided [RCV002570228] Chr7:24710408 [GRCh38]
Chr7:24750027 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.330G>A (p.Glu110=) single nucleotide variant not provided [RCV002570851] Chr7:24744636 [GRCh38]
Chr7:24784255 [GRCh37]
Chr7:7p15.3		 benign
NM_001127453.2(GSDME):c.1049_1103dup (p.Gln368fs) duplication not provided [RCV002948407] Chr7:24706263..24706264 [GRCh38]
Chr7:24745882..24745883 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.698-3C>A single nucleotide variant not provided [RCV002885863] Chr7:24710391 [GRCh38]
Chr7:24750010 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.759C>T (p.Val253=) single nucleotide variant not provided [RCV002741733] Chr7:24710327 [GRCh38]
Chr7:24749946 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.816G>C (p.Ala272=) single nucleotide variant not provided [RCV002625752] Chr7:24710270 [GRCh38]
Chr7:24749889 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.1183+3A>T single nucleotide variant not provided [RCV002508711] Chr7:24706181 [GRCh38]
Chr7:24745800 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.314G>A (p.Gly105Asp) single nucleotide variant not provided [RCV002982506] Chr7:24744652 [GRCh38]
Chr7:24784271 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.863C>G (p.Ala288Gly) single nucleotide variant not provided [RCV002914728] Chr7:24708254 [GRCh38]
Chr7:24747873 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.955T>C (p.Phe319Leu) single nucleotide variant not provided [RCV003026697] Chr7:24708162 [GRCh38]
Chr7:24747781 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.762C>T (p.Tyr254=) single nucleotide variant not provided [RCV003044859] Chr7:24710324 [GRCh38]
Chr7:24749943 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.845del (p.Pro281_Leu282insTer) deletion not provided [RCV003010454] Chr7:24710241 [GRCh38]
Chr7:24749860 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.980T>G (p.Leu327Arg) single nucleotide variant Inborn genetic diseases [RCV004068930]|not provided [RCV002605931] Chr7:24708137 [GRCh38]
Chr7:24747756 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.899C>T (p.Ala300Val) single nucleotide variant Inborn genetic diseases [RCV004070514]|not provided [RCV002607368] Chr7:24708218 [GRCh38]
Chr7:24747837 [GRCh37]
Chr7:7p15.3		 likely benign|uncertain significance
NM_001127453.2(GSDME):c.275T>C (p.Leu92Pro) single nucleotide variant not provided [RCV002608294] Chr7:24744691 [GRCh38]
Chr7:24784310 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.1183+19G>A single nucleotide variant not provided [RCV002588934] Chr7:24706165 [GRCh38]
Chr7:24745784 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.576+4C>T single nucleotide variant not provided [RCV002587270] Chr7:24719043 [GRCh38]
Chr7:24758662 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.43G>A (p.Ala15Thr) single nucleotide variant not provided [RCV003154406] Chr7:24749732 [GRCh38]
Chr7:24789351 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.650T>C (p.Ile217Thr) single nucleotide variant Inborn genetic diseases [RCV003210700] Chr7:24717301 [GRCh38]
Chr7:24756920 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.1454T>G (p.Leu485Arg) single nucleotide variant Inborn genetic diseases [RCV003175826]|not provided [RCV003779654] Chr7:24699063 [GRCh38]
Chr7:24738682 [GRCh37]
Chr7:7p15.3		 likely benign|uncertain significance
NM_001127453.2(GSDME):c.725G>A (p.Gly242Asp) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV003146049] Chr7:24710361 [GRCh38]
Chr7:24749980 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.344T>G (p.Phe115Cys) single nucleotide variant Inborn genetic diseases [RCV003206122] Chr7:24744622 [GRCh38]
Chr7:24784241 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.868del (p.Leu290fs) deletion Autosomal dominant nonsyndromic hearing loss 5 [RCV003225885] Chr7:24708249 [GRCh38]
Chr7:24747868 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.1441C>A (p.Leu481Ile) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 5 [RCV003146050] Chr7:24699076 [GRCh38]
Chr7:24738695 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.997G>A (p.Asp333Asn) single nucleotide variant Inborn genetic diseases [RCV004285601]|not provided [RCV003223913] Chr7:24706370 [GRCh38]
Chr7:24745989 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.698-3C>G single nucleotide variant not provided [RCV003323060] Chr7:24710391 [GRCh38]
Chr7:24750010 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.1184-6C>T single nucleotide variant not provided [RCV003482666] Chr7:24702839 [GRCh38]
Chr7:24742458 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.426T>C (p.Pro142=) single nucleotide variant not provided [RCV003569659] Chr7:24719197 [GRCh38]
Chr7:24758816 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.1007G>A (p.Ser336Asn) single nucleotide variant not provided [RCV003482475] Chr7:24706360 [GRCh38]
Chr7:24745979 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.1259T>C (p.Leu420Pro) single nucleotide variant not provided [RCV003436685] Chr7:24699258 [GRCh38]
Chr7:24738877 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.362AGG[1] (p.Glu122del) microsatellite not provided [RCV003436686] Chr7:24744599..24744601 [GRCh38]
Chr7:24784218..24784220 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.887T>G (p.Phe296Cys) single nucleotide variant not provided [RCV003690981] Chr7:24708230 [GRCh38]
Chr7:24747849 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.416T>G (p.Leu139Arg) single nucleotide variant not provided [RCV003696641] Chr7:24719207 [GRCh38]
Chr7:24758826 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.1008C>T (p.Ser336=) single nucleotide variant not provided [RCV003882392] Chr7:24706359 [GRCh38]
Chr7:24745978 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.1110_1114dup (p.Pro372fs) duplication not provided [RCV003686560] Chr7:24706252..24706253 [GRCh38]
Chr7:24745871..24745872 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.689G>C (p.Gly230Ala) single nucleotide variant not provided [RCV003695238] Chr7:24717262 [GRCh38]
Chr7:24756881 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.404+13G>A single nucleotide variant not provided [RCV003691114] Chr7:24744549 [GRCh38]
Chr7:24784168 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.576+12C>T single nucleotide variant not provided [RCV003824595] Chr7:24719035 [GRCh38]
Chr7:24758654 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.224C>T (p.Ser75Leu) single nucleotide variant Inborn genetic diseases [RCV004366786]|not provided [RCV003825934] Chr7:24744742 [GRCh38]
Chr7:24784361 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.218T>A (p.Val73Glu) single nucleotide variant not provided [RCV003686551] Chr7:24744748 [GRCh38]
Chr7:24784367 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.468C>T (p.Cys156=) single nucleotide variant not provided [RCV003717993] Chr7:24719155 [GRCh38]
Chr7:24758774 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.1009G>A (p.Gly337Ser) single nucleotide variant Inborn genetic diseases [RCV004369240]|not provided [RCV003579763] Chr7:24706358 [GRCh38]
Chr7:24745977 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.78T>C (p.Asn26=) single nucleotide variant not provided [RCV003851128] Chr7:24749697 [GRCh38]
Chr7:24789316 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.1192G>A (p.Asp398Asn) single nucleotide variant not provided [RCV003717199] Chr7:24702825 [GRCh38]
Chr7:24742444 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.529GAG[1] (p.Glu178del) microsatellite not provided [RCV003854331] Chr7:24719089..24719091 [GRCh38]
Chr7:24758708..24758710 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.1115C>T (p.Pro372Leu) single nucleotide variant not provided [RCV003811008] Chr7:24706252 [GRCh38]
Chr7:24745871 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.549C>T (p.Ile183=) single nucleotide variant not provided [RCV003838534] Chr7:24719074 [GRCh38]
Chr7:24758693 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.272C>T (p.Thr91Ile) single nucleotide variant not provided [RCV003667072] Chr7:24744694 [GRCh38]
Chr7:24784313 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.349A>T (p.Thr117Ser) single nucleotide variant Inborn genetic diseases [RCV004374077]|not provided [RCV003725526] Chr7:24744617 [GRCh38]
Chr7:24784236 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.89A>G (p.Lys30Arg) single nucleotide variant not provided [RCV003701453] Chr7:24749686 [GRCh38]
Chr7:24789305 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.400G>A (p.Glu134Lys) single nucleotide variant not provided [RCV003548130] Chr7:24744566 [GRCh38]
Chr7:24784185 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.324C>T (p.Arg108=) single nucleotide variant not provided [RCV003838704] Chr7:24744642 [GRCh38]
Chr7:24784261 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.697+18T>C single nucleotide variant not provided [RCV003813806] Chr7:24717236 [GRCh38]
Chr7:24756855 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.188T>C (p.Ile63Thr) single nucleotide variant not provided [RCV003566467] Chr7:24749587 [GRCh38]
Chr7:24789206 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.1164C>T (p.Phe388=) single nucleotide variant not provided [RCV003707258] Chr7:24706203 [GRCh38]
Chr7:24745822 [GRCh37]
Chr7:7p15.3		 likely benign
NM_001127453.2(GSDME):c.576+5G>A single nucleotide variant not provided [RCV003706858] Chr7:24719042 [GRCh38]
Chr7:24758661 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.1003G>T (p.Val335Phe) single nucleotide variant not provided [RCV003859572] Chr7:24706364 [GRCh38]
Chr7:24745983 [GRCh37]
Chr7:7p15.3		 uncertain significance
GRCh37/hg19 7p21.3-15.2(chr7:13107394-27514163)x1 copy number loss not specified [RCV003986690] Chr7:13107394..27514163 [GRCh37]
Chr7:7p21.3-15.2		 pathogenic
NM_001127453.2(GSDME):c.1067T>A (p.Leu356His) single nucleotide variant not provided [RCV003721700] Chr7:24706300 [GRCh38]
Chr7:24745919 [GRCh37]
Chr7:7p15.3		 uncertain significance
GRCh37/hg19 7p21.1-14.3(chr7:17736012-30663423)x1 copy number loss not specified [RCV003986712] Chr7:17736012..30663423 [GRCh37]
Chr7:7p21.1-14.3		 pathogenic
NM_001127453.2(GSDME):c.1274ATG[3] (p.Asp426_Gly427insAsp) microsatellite not provided [RCV003843572] Chr7:24699237..24699238 [GRCh38]
Chr7:24738856..24738857 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.913C>A (p.Pro305Thr) single nucleotide variant GSDME-related condition [RCV003982675]|Inborn genetic diseases [RCV004369920] Chr7:24708204 [GRCh38]
Chr7:24747823 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.377A>C (p.Gln126Pro) single nucleotide variant Inborn genetic diseases [RCV004396226] Chr7:24744589 [GRCh38]
Chr7:24784208 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.848G>A (p.Ser283Asn) single nucleotide variant Inborn genetic diseases [RCV004396230] Chr7:24710238 [GRCh38]
Chr7:24749857 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.740A>G (p.Lys247Arg) single nucleotide variant Inborn genetic diseases [RCV004396229] Chr7:24710346 [GRCh38]
Chr7:24749965 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.1418A>G (p.Asp473Gly) single nucleotide variant Inborn genetic diseases [RCV004396221] Chr7:24699099 [GRCh38]
Chr7:24738718 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.1244C>T (p.Thr415Ile) single nucleotide variant Inborn genetic diseases [RCV004396214] Chr7:24702773 [GRCh38]
Chr7:24742392 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.1325C>T (p.Thr442Ile) single nucleotide variant Inborn genetic diseases [RCV004396217] Chr7:24699192 [GRCh38]
Chr7:24738811 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.1342G>A (p.Val448Met) single nucleotide variant Inborn genetic diseases [RCV004396218] Chr7:24699175 [GRCh38]
Chr7:24738794 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.1397T>C (p.Val466Ala) single nucleotide variant Inborn genetic diseases [RCV004396220] Chr7:24699120 [GRCh38]
Chr7:24738739 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.241G>A (p.Glu81Lys) single nucleotide variant Inborn genetic diseases [RCV004396222] Chr7:24744725 [GRCh38]
Chr7:24784344 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.956T>C (p.Phe319Ser) single nucleotide variant Inborn genetic diseases [RCV004396231] Chr7:24708161 [GRCh38]
Chr7:24747780 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.1261C>T (p.Arg421Cys) single nucleotide variant Inborn genetic diseases [RCV004396216] Chr7:24699256 [GRCh38]
Chr7:24738875 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.262G>A (p.Val88Met) single nucleotide variant Inborn genetic diseases [RCV004396223] Chr7:24744704 [GRCh38]
Chr7:24784323 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.382C>T (p.Leu128Phe) single nucleotide variant Inborn genetic diseases [RCV004396227] Chr7:24744584 [GRCh38]
Chr7:24784203 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.434A>G (p.Gln145Arg) single nucleotide variant Inborn genetic diseases [RCV004396228] Chr7:24719189 [GRCh38]
Chr7:24758808 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.1396G>A (p.Val466Met) single nucleotide variant Inborn genetic diseases [RCV004396219] Chr7:24699121 [GRCh38]
Chr7:24738740 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.295G>A (p.Val99Ile) single nucleotide variant Inborn genetic diseases [RCV004396224] Chr7:24744671 [GRCh38]
Chr7:24784290 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.322C>T (p.Arg108Cys) single nucleotide variant Inborn genetic diseases [RCV004396225] Chr7:24744644 [GRCh38]
Chr7:24784263 [GRCh37]
Chr7:7p15.3		 uncertain significance
NM_001127453.2(GSDME):c.802A>G (p.Met268Val) single nucleotide variant Inborn genetic diseases [RCV003342786]|not provided [RCV003777527] Chr7:24710284 [GRCh38]
Chr7:24749903 [GRCh37]
Chr7:7p15.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2836
Count of miRNA genes:972
Interacting mature miRNAs:1186
Transcripts:ENST00000342947, ENST00000409775, ENST00000409970, ENST00000411476, ENST00000414428, ENST00000415480, ENST00000419307, ENST00000430096, ENST00000446822, ENST00000469133, ENST00000473990, ENST00000479636, ENST00000493723, ENST00000545231, ENST00000559637
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D7S493  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37721,805,185 - 21,805,307UniSTSGRCh37
GRCh37721,805,095 - 21,805,307UniSTSGRCh37
Build 36721,771,710 - 21,771,832RGDNCBI36
Celera721,790,809 - 21,790,933RGD
Celera721,790,719 - 21,790,933UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7p21UniSTS
HuRef721,690,345 - 21,690,559UniSTS
HuRef721,690,435 - 21,690,559UniSTS
CRA_TCAGchr7v2721,856,416 - 21,856,628UniSTS
CRA_TCAGchr7v2721,856,506 - 21,856,628UniSTS
Marshfield Genetic Map734.69UniSTS
Marshfield Genetic Map734.69RGD
Genethon Genetic Map735.0UniSTS
TNG Radiation Hybrid Map79976.0UniSTS
deCODE Assembly Map736.92UniSTS
Stanford-G3 RH Map7754.0UniSTS
GeneMap99-GB4 RH Map797.39UniSTS
Whitehead-YAC Contig Map7 UniSTS
NCBI RH Map7333.9UniSTS
GeneMap99-G3 RH Map7754.0UniSTS
RH92452  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37724,743,028 - 24,743,122UniSTSGRCh37
Build 36724,709,553 - 24,709,647RGDNCBI36
Celera724,731,503 - 24,731,597RGD
Cytogenetic Map7p15UniSTS
HuRef724,627,592 - 24,627,686UniSTS
CRA_TCAGchr7v2724,794,588 - 24,794,682UniSTS
GeneMap99-GB4 RH Map7105.73UniSTS
DFNA5_8296  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37724,737,925 - 24,738,698UniSTSGRCh37
Build 36724,704,450 - 24,705,223RGDNCBI36
Celera724,726,400 - 24,727,173RGD
HuRef724,622,489 - 24,623,262UniSTS
CRA_TCAGchr7v2724,789,485 - 24,790,258UniSTS
RH78503  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37724,738,098 - 24,738,269UniSTSGRCh37
Build 36724,704,623 - 24,704,794RGDNCBI36
Celera724,726,573 - 24,726,744RGD
Cytogenetic Map7p15UniSTS
HuRef724,622,662 - 24,622,833UniSTS
CRA_TCAGchr7v2724,789,658 - 24,789,829UniSTS
GeneMap99-GB4 RH Map7106.56UniSTS
NCBI RH Map7415.5UniSTS
SHGC-36617  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37724,738,003 - 24,738,105UniSTSGRCh37
Build 36724,704,528 - 24,704,630RGDNCBI36
Celera724,726,478 - 24,726,580RGD
Cytogenetic Map7p15UniSTS
HuRef724,622,567 - 24,622,669UniSTS
CRA_TCAGchr7v2724,789,563 - 24,789,665UniSTS
TNG Radiation Hybrid Map711275.0UniSTS
GeneMap99-G3 RH Map7886.0UniSTS
A004M17  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37724,738,070 - 24,738,181UniSTSGRCh37
Build 36724,704,595 - 24,704,706RGDNCBI36
Celera724,726,545 - 24,726,656RGD
Cytogenetic Map7p15UniSTS
HuRef724,622,634 - 24,622,745UniSTS
CRA_TCAGchr7v2724,789,630 - 24,789,741UniSTS
GeneMap99-GB4 RH Map7106.56UniSTS
NCBI RH Map7415.5UniSTS
D7S632  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map7p15UniSTS
GeneMap99-G3 RH Map71279.0UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 587 1283 594 29 517 27 1204 370 1362 100 943 606 11 658 826 3
Low 1747 1093 1104 571 747 414 3134 1793 2347 302 496 975 160 546 1959 1
Below cutoff 64 600 25 22 652 23 17 26 5 16 9 23 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001127453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001127454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC003093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF007790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF073308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF075171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF131765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ270686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC099911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC125065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC125066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA197867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA820184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA908548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000342947   ⟹   ENSP00000339587
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl724,698,355 - 24,757,939 (-)Ensembl
RefSeq Acc Id: ENST00000409970   ⟹   ENSP00000387119
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl724,698,389 - 24,757,475 (-)Ensembl
RefSeq Acc Id: ENST00000411476
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl724,710,225 - 24,744,734 (-)Ensembl
RefSeq Acc Id: ENST00000414428   ⟹   ENSP00000413963
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl724,707,313 - 24,757,731 (-)Ensembl
RefSeq Acc Id: ENST00000415480   ⟹   ENSP00000389874
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl724,707,279 - 24,717,316 (-)Ensembl
RefSeq Acc Id: ENST00000419307   ⟹   ENSP00000401332
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl724,698,491 - 24,757,940 (-)Ensembl
RefSeq Acc Id: ENST00000430096   ⟹   ENSP00000395540
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl724,702,427 - 24,706,226 (-)Ensembl
RefSeq Acc Id: ENST00000446822   ⟹   ENSP00000398445
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl724,707,279 - 24,719,096 (-)Ensembl
RefSeq Acc Id: ENST00000469133
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl724,708,036 - 24,710,587 (-)Ensembl
RefSeq Acc Id: ENST00000473990
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl724,744,011 - 24,749,794 (-)Ensembl
RefSeq Acc Id: ENST00000479636
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl724,698,356 - 24,706,037 (-)Ensembl
RefSeq Acc Id: ENST00000493723
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl724,716,469 - 24,749,793 (-)Ensembl
RefSeq Acc Id: ENST00000559637
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl724,708,252 - 24,724,784 (-)Ensembl
RefSeq Acc Id: ENST00000645220   ⟹   ENSP00000494186
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl724,698,355 - 24,757,464 (-)Ensembl
RefSeq Acc Id: NM_001127453   ⟹   NP_001120925
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38724,698,355 - 24,757,464 (-)NCBI
GRCh37724,737,974 - 24,797,639 (-)ENTREZGENE
HuRef724,622,538 - 24,682,209 (-)ENTREZGENE
CHM1_1724,739,537 - 24,798,645 (-)NCBI
T2T-CHM13v2.0724,836,367 - 24,895,471 (-)NCBI
CRA_TCAGchr7v2724,789,534 - 24,849,193 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001127454   ⟹   NP_001120926
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38724,698,355 - 24,757,939 (-)NCBI
GRCh37724,737,974 - 24,797,639 (-)ENTREZGENE
HuRef724,622,538 - 24,682,209 (-)ENTREZGENE
CHM1_1724,739,537 - 24,799,201 (-)NCBI
T2T-CHM13v2.0724,836,367 - 24,895,946 (-)NCBI
CRA_TCAGchr7v2724,789,534 - 24,849,193 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_004403   ⟹   NP_004394
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38724,698,355 - 24,757,939 (-)NCBI
GRCh37724,737,974 - 24,797,639 (-)ENTREZGENE
Build 36724,704,499 - 24,764,164 (-)NCBI Archive
HuRef724,622,538 - 24,682,209 (-)ENTREZGENE
CHM1_1724,739,537 - 24,799,201 (-)NCBI
T2T-CHM13v2.0724,836,367 - 24,895,946 (-)NCBI
CRA_TCAGchr7v2724,789,534 - 24,849,193 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_017011802   ⟹   XP_016867291
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38724,698,355 - 24,757,464 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024446670   ⟹   XP_024302438
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38724,698,355 - 24,795,539 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054357398   ⟹   XP_054213373
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0724,836,367 - 24,933,504 (-)NCBI
RefSeq Acc Id: XM_054357399   ⟹   XP_054213374
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0724,836,367 - 24,895,471 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001120925 (Get FASTA)   NCBI Sequence Viewer  
  NP_001120926 (Get FASTA)   NCBI Sequence Viewer  
  NP_004394 (Get FASTA)   NCBI Sequence Viewer  
  XP_016867291 (Get FASTA)   NCBI Sequence Viewer  
  XP_024302438 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213373 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213374 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB83938 (Get FASTA)   NCBI Sequence Viewer  
  AAC39635 (Get FASTA)   NCBI Sequence Viewer  
  AAC69324 (Get FASTA)   NCBI Sequence Viewer  
  AAC69326 (Get FASTA)   NCBI Sequence Viewer  
  AAD20039 (Get FASTA)   NCBI Sequence Viewer  
  AAH99911 (Get FASTA)   NCBI Sequence Viewer  
  AAI25066 (Get FASTA)   NCBI Sequence Viewer  
  AAI25067 (Get FASTA)   NCBI Sequence Viewer  
  BAF83464 (Get FASTA)   NCBI Sequence Viewer  
  BAG37026 (Get FASTA)   NCBI Sequence Viewer  
  BAG52917 (Get FASTA)   NCBI Sequence Viewer  
  EAL24246 (Get FASTA)   NCBI Sequence Viewer  
  EAW93812 (Get FASTA)   NCBI Sequence Viewer  
  EAW93813 (Get FASTA)   NCBI Sequence Viewer  
  EAW93814 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000339587
  ENSP00000339587.3
  ENSP00000387119
  ENSP00000387119.1
  ENSP00000389874.1
  ENSP00000395540.1
  ENSP00000398445.1
  ENSP00000401332
  ENSP00000401332.1
  ENSP00000413963.2
  ENSP00000494186
  ENSP00000494186.1
GenBank Protein O60443 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001120926   ⟸   NM_001127454
- Peptide Label: isoform b
- UniProtKB: O60443 (UniProtKB/Swiss-Prot),   A4FVA8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_004394   ⟸   NM_004403
- Peptide Label: isoform a
- UniProtKB: Q08AQ8 (UniProtKB/Swiss-Prot),   O14590 (UniProtKB/Swiss-Prot),   B3KT05 (UniProtKB/Swiss-Prot),   B2RAX9 (UniProtKB/Swiss-Prot),   A4D156 (UniProtKB/Swiss-Prot),   Q9UBV3 (UniProtKB/Swiss-Prot),   O60443 (UniProtKB/Swiss-Prot),   A4FTY0 (UniProtKB/TrEMBL),   A8K410 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001120925   ⟸   NM_001127453
- Peptide Label: isoform a
- UniProtKB: Q08AQ8 (UniProtKB/Swiss-Prot),   O14590 (UniProtKB/Swiss-Prot),   B3KT05 (UniProtKB/Swiss-Prot),   B2RAX9 (UniProtKB/Swiss-Prot),   A4D156 (UniProtKB/Swiss-Prot),   Q9UBV3 (UniProtKB/Swiss-Prot),   O60443 (UniProtKB/Swiss-Prot),   A4FTY0 (UniProtKB/TrEMBL),   A8K410 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016867291   ⟸   XM_017011802
- Peptide Label: isoform X2
- UniProtKB: O60443 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024302438   ⟸   XM_024446670
- Peptide Label: isoform X1
- UniProtKB: Q08AQ8 (UniProtKB/Swiss-Prot),   O60443 (UniProtKB/Swiss-Prot),   O14590 (UniProtKB/Swiss-Prot),   B3KT05 (UniProtKB/Swiss-Prot),   B2RAX9 (UniProtKB/Swiss-Prot),   A4D156 (UniProtKB/Swiss-Prot),   Q9UBV3 (UniProtKB/Swiss-Prot),   A4FTY0 (UniProtKB/TrEMBL),   A8K410 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000413963   ⟸   ENST00000414428
RefSeq Acc Id: ENSP00000389874   ⟸   ENST00000415480
RefSeq Acc Id: ENSP00000401332   ⟸   ENST00000419307
RefSeq Acc Id: ENSP00000395540   ⟸   ENST00000430096
RefSeq Acc Id: ENSP00000398445   ⟸   ENST00000446822
RefSeq Acc Id: ENSP00000387119   ⟸   ENST00000409970
RefSeq Acc Id: ENSP00000494186   ⟸   ENST00000645220
RefSeq Acc Id: ENSP00000339587   ⟸   ENST00000342947
RefSeq Acc Id: XP_054213373   ⟸   XM_054357398
- Peptide Label: isoform X1
- UniProtKB: Q08AQ8 (UniProtKB/Swiss-Prot),   O60443 (UniProtKB/Swiss-Prot),   O14590 (UniProtKB/Swiss-Prot),   B3KT05 (UniProtKB/Swiss-Prot),   B2RAX9 (UniProtKB/Swiss-Prot),   A4D156 (UniProtKB/Swiss-Prot),   Q9UBV3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054213374   ⟸   XM_054357399
- Peptide Label: isoform X2
Protein Domains
Gasdermin pore forming   Gasdermin PUB

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O60443-F1-model_v2 AlphaFold O60443 1-496 view protein structure

Promoters
RGD ID:6805436
Promoter ID:HG_KWN:56599
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000326890,   OTTHUMT00000326896
Position:
Human AssemblyChrPosition (strand)Source
Build 36724,708,926 - 24,713,012 (-)MPROMDB
RGD ID:6805440
Promoter ID:HG_KWN:56600
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000326895
Position:
Human AssemblyChrPosition (strand)Source
Build 36724,716,114 - 24,716,614 (-)MPROMDB
RGD ID:6805439
Promoter ID:HG_KWN:56601
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid
Transcripts:OTTHUMT00000326894
Position:
Human AssemblyChrPosition (strand)Source
Build 36724,723,151 - 24,724,362 (-)MPROMDB
RGD ID:6805437
Promoter ID:HG_KWN:56602
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000326893
Position:
Human AssemblyChrPosition (strand)Source
Build 36724,724,894 - 24,725,394 (-)MPROMDB
RGD ID:7210119
Promoter ID:EPDNEW_H10805
Type:initiation region
Name:DFNA5_1
Description:DFNA5, deafness associated tumor suppressor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10806  EPDNEW_H10807  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38724,757,449 - 24,757,509EPDNEW
RGD ID:7210121
Promoter ID:EPDNEW_H10806
Type:initiation region
Name:DFNA5_2
Description:DFNA5, deafness associated tumor suppressor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10805  EPDNEW_H10807  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38724,757,939 - 24,757,999EPDNEW
RGD ID:6805443
Promoter ID:HG_KWN:56605
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:ENST00000409775,   NM_001127454,   OTTHUMT00000214060,   OTTHUMT00000326891,   UC003SWZ.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36724,763,551 - 24,764,542 (-)MPROMDB
RGD ID:7210123
Promoter ID:EPDNEW_H10807
Type:single initiation site
Name:DFNA5_3
Description:DFNA5, deafness associated tumor suppressor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10805  EPDNEW_H10806  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38724,784,464 - 24,784,524EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2810 AgrOrtholog
COSMIC GSDME COSMIC
Ensembl Genes ENSG00000105928 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000342947 ENTREZGENE
  ENST00000342947.9 UniProtKB/Swiss-Prot
  ENST00000409970 ENTREZGENE
  ENST00000409970.6 UniProtKB/Swiss-Prot
  ENST00000414428.2 UniProtKB/TrEMBL
  ENST00000415480.5 UniProtKB/TrEMBL
  ENST00000419307 ENTREZGENE
  ENST00000419307.6 UniProtKB/Swiss-Prot
  ENST00000430096.1 UniProtKB/TrEMBL
  ENST00000446822.6 UniProtKB/TrEMBL
  ENST00000645220 ENTREZGENE
  ENST00000645220.1 UniProtKB/Swiss-Prot
GTEx ENSG00000105928 GTEx
HGNC ID HGNC:2810 ENTREZGENE
Human Proteome Map GSDME Human Proteome Map
InterPro Gasdermin_pore UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Gasdermin_PUB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GSDME UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1687 UniProtKB/Swiss-Prot
NCBI Gene 1687 ENTREZGENE
OMIM 608798 OMIM
PANTHER GASDERMIN-E UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR15207 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Gasdermin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Gasdermin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27281 PharmGKB
UniProt A4D156 ENTREZGENE
  A4FTY0 ENTREZGENE, UniProtKB/TrEMBL
  A4FVA8 ENTREZGENE, UniProtKB/TrEMBL
  A8K410 ENTREZGENE, UniProtKB/TrEMBL
  B2RAX9 ENTREZGENE
  B3KT05 ENTREZGENE
  C9JSR4_HUMAN UniProtKB/TrEMBL
  GSDME_HUMAN UniProtKB/Swiss-Prot
  H7BZJ0_HUMAN UniProtKB/TrEMBL
  H7C0L2_HUMAN UniProtKB/TrEMBL
  H7C147_HUMAN UniProtKB/TrEMBL
  O14590 ENTREZGENE
  O60443 ENTREZGENE
  Q08AQ8 ENTREZGENE
  Q9UBV3 ENTREZGENE
UniProt Secondary A4D156 UniProtKB/Swiss-Prot
  B2RAX9 UniProtKB/Swiss-Prot
  B3KT05 UniProtKB/Swiss-Prot
  O14590 UniProtKB/Swiss-Prot
  Q08AQ8 UniProtKB/Swiss-Prot
  Q9UBV3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2022-04-14 GSDME  gasdermin E  LOC107986779  uncharacterized LOC107986779  Data merged from RGD:38638579 737654 PROVISIONAL
2017-08-22 GSDME  gasdermin E  DFNA5  DFNA5, deafness associated tumor suppressor  Symbol and/or name change 5135510 APPROVED
2016-03-28 DFNA5  DFNA5, deafness associated tumor suppressor  DFNA5  deafness, autosomal dominant 5  Symbol and/or name change 5135510 APPROVED