SCNN1D (sodium channel epithelial 1 subunit delta) - Rat Genome Database

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Gene: SCNN1D (sodium channel epithelial 1 subunit delta) Homo sapiens
Analyze
Symbol: SCNN1D
Name: sodium channel epithelial 1 subunit delta
RGD ID: 1346343
HGNC Page HGNC:10601
Description: Predicted to enable ligand-gated sodium channel activity. Involved in cellular response to acidic pH; intracellular sodium ion homeostasis; and sodium ion import across plasma membrane. Located in actin cytoskeleton and plasma membrane. Part of sodium channel complex.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: amiloride-sensitive sodium channel subunit delta; delta-ENaC; delta-NaCH; dNaCh; ENaCd; ENaCdelta; epithelial Na(+) channel subunit delta; MGC149710; MGC149711; nonvoltage-gated sodium channel 1 subunit delta; SCNED; sodium channel epithelial 1 delta subunit; sodium channel, non voltage gated 1 delta subunit; sodium channel, non-voltage-gated 1, delta subunit; sodium channel, nonvoltage-gated 1, delta; sodium channel, voltage-gated, type I, delta polypeptide
RGD Orthologs
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
GRCh3811,280,436 - 1,292,025 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11,280,436 - 1,292,029 (+)EnsemblGRCh38hg38GRCh38
GRCh3711,215,816 - 1,227,405 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611,207,439 - 1,217,272 (+)NCBINCBI36Build 36hg18NCBI36
Build 3411,257,498 - 1,267,332NCBI
Celera11,353,752 - 1,364,767 (-)NCBICelera
Cytogenetic Map1p36.33NCBI
HuRef1487,469 - 498,615 (+)NCBIHuRef
CHM1_111,202,865 - 1,213,108 (+)NCBICHM1_1
T2T-CHM13v2.01709,443 - 723,551 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Cellular Component
actin cytoskeleton  (IDA)
apical plasma membrane  (IDA)
membrane  (IDA,IEA)
plasma membrane  (IBA,IDA,IEA,NAS,TAS)
sodium channel complex  (IBA,IDA)

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. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7499195   PMID:8661065   PMID:8889548   PMID:12477932   PMID:14645214   PMID:14702039   PMID:14726523   PMID:15084585   PMID:15308635   PMID:15489334   PMID:16423824   PMID:16710414  
PMID:16930535   PMID:17472699   PMID:18073141   PMID:18298571   PMID:18951889   PMID:19359370   PMID:19520916   PMID:19717556   PMID:19812697   PMID:19913121   PMID:20628086   PMID:20631247  
PMID:21307123   PMID:21419751   PMID:21562313   PMID:21741370   PMID:21873635   PMID:22159085   PMID:22505667   PMID:22983350   PMID:23589227   PMID:24419567   PMID:25677639   PMID:26772908  
PMID:27941075   PMID:28514442   PMID:28708422   PMID:30997501   PMID:31754387   PMID:31900314   PMID:33673381   PMID:33961781   PMID:36193739  


Genomics

Comparative Map Data
SCNN1D
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811,280,436 - 1,292,025 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11,280,436 - 1,292,029 (+)EnsemblGRCh38hg38GRCh38
GRCh3711,215,816 - 1,227,405 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611,207,439 - 1,217,272 (+)NCBINCBI36Build 36hg18NCBI36
Build 3411,257,498 - 1,267,332NCBI
Celera11,353,752 - 1,364,767 (-)NCBICelera
Cytogenetic Map1p36.33NCBI
HuRef1487,469 - 498,615 (+)NCBIHuRef
CHM1_111,202,865 - 1,213,108 (+)NCBICHM1_1
T2T-CHM13v2.01709,443 - 723,551 (+)NCBIT2T-CHM13v2.0
Scnn1d
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554869,508,435 - 9,514,107 (-)NCBIChiLan1.0ChiLan1.0
SCNN1D
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21226,935,345 - 226,952,596 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11225,632,019 - 225,649,369 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0135,437 - 46,538 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.111,239,074 - 1,248,062 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11,238,512 - 1,247,649 (+)Ensemblpanpan1.1panPan2
SCNN1D
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1556,455,677 - 56,466,035 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl556,461,939 - 56,465,595 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha556,532,576 - 56,542,936 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0556,658,510 - 56,668,872 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1556,649,231 - 56,659,591 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0556,541,513 - 56,551,874 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0556,931,514 - 56,941,874 (+)NCBIUU_Cfam_GSD_1.0
Scnn1d
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505827,607,570 - 27,614,765 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049367371,851,185 - 1,854,923 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SCNN1D
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1663,568,171 - 63,578,623 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2658,044,741 - 58,047,444 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SCNN1D
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120130,158,282 - 130,169,479 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605434,724,525 - 34,734,712 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Scnn1d
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248188,316,300 - 8,321,995 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SCNN1D
96 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 1p36.33-36.31(chr1:834101-6076140) copy number loss Primary dilated cardiomyopathy [RCV000626523] Chr1:834101..6076140 [GRCh37]
Chr1:1p36.33-36.31		 pathogenic
GRCh37/hg19 1q21.2(chr1:149041013-149699420)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050339]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050339]|See cases [RCV000050339] Chr1:149041013..149699420 [GRCh37]
Chr1:1q21.2		 benign
GRCh38/hg38 1p36.33-36.32(chr1:844347-3006252)x1 copy number loss See cases [RCV000050857] Chr1:844347..3006252 [GRCh38]
Chr1:779727..2922816 [GRCh37]
Chr1:769590..2912676 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-3712147)x1 copy number loss See cases [RCV000050882] Chr1:844347..3712147 [GRCh38]
Chr1:779727..3628711 [GRCh37]
Chr1:769590..3618571 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-5682587)x1 copy number loss See cases [RCV000050642] Chr1:844347..5682587 [GRCh38]
Chr1:779727..5742647 [GRCh37]
Chr1:769590..5665234 [NCBI36]
Chr1:1p36.33-36.31		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-3319395)x1 copy number loss See cases [RCV000050647] Chr1:844347..3319395 [GRCh38]
Chr1:779727..3235959 [GRCh37]
Chr1:769590..3225819 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-2627474)x1 copy number loss See cases [RCV000050752] Chr1:844347..2627474 [GRCh38]
Chr1:779727..2558913 [GRCh37]
Chr1:769590..2548773 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-6477436)x1 copy number loss See cases [RCV000051143] Chr1:844347..6477436 [GRCh38]
Chr1:779727..6537496 [GRCh37]
Chr1:769590..6460083 [NCBI36]
Chr1:1p36.33-36.31		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:792758-5006311)x3 copy number gain See cases [RCV000051779] Chr1:792758..5006311 [GRCh38]
Chr1:728138..5066371 [GRCh37]
Chr1:718001..4966231 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:826553-4719105)x3 copy number gain See cases [RCV000051780] Chr1:826553..4719105 [GRCh38]
Chr1:761933..4779165 [GRCh37]
Chr1:751796..4679025 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-6231924)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051782]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051782]|See cases [RCV000051782] Chr1:844347..6231924 [GRCh38]
Chr1:779727..6291984 [GRCh37]
Chr1:769590..6214571 [NCBI36]
Chr1:1p36.33-36.31		 pathogenic
GRCh38/hg38 1p36.33(chr1:844347-2131805)x1 copy number loss See cases [RCV000052043] Chr1:844347..2131805 [GRCh38]
Chr1:779727..2063244 [GRCh37]
Chr1:769590..2053104 [NCBI36]
Chr1:1p36.33		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:845437-2523513)x1 copy number loss See cases [RCV000052044] Chr1:845437..2523513 [GRCh38]
Chr1:780817..2454952 [GRCh37]
Chr1:770680..2444812 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1 copy number loss See cases [RCV000052045] Chr1:859215..8747647 [GRCh38]
Chr1:794595..8807706 [GRCh37]
Chr1:784458..8730293 [NCBI36]
Chr1:1p36.33-36.23		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:870177-4426613)x1 copy number loss See cases [RCV000052063] Chr1:870177..4426613 [GRCh38]
Chr1:805557..4486673 [GRCh37]
Chr1:795420..4386533 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33(chr1:872305-2047715)x1 copy number loss See cases [RCV000052064] Chr1:872305..2047715 [GRCh38]
Chr1:807685..1979154 [GRCh37]
Chr1:797548..1969014 [NCBI36]
Chr1:1p36.33		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:872305-3054463)x1 copy number loss See cases [RCV000052065] Chr1:872305..3054463 [GRCh38]
Chr1:807685..2971027 [GRCh37]
Chr1:797548..2960887 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:872305-4133409)x1 copy number loss See cases [RCV000052066] Chr1:872305..4133409 [GRCh38]
Chr1:807685..4193469 [GRCh37]
Chr1:797548..4093329 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1 copy number loss See cases [RCV000051993] Chr1:629025..8537745 [GRCh38]
Chr1:564405..8597804 [GRCh37]
Chr1:554268..8520391 [NCBI36]
Chr1:1p36.33-36.23		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:629044-3346226)x1 copy number loss See cases [RCV000051994] Chr1:629044..3346226 [GRCh38]
Chr1:564424..3262790 [GRCh37]
Chr1:554287..3252650 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x3 copy number gain See cases [RCV000052067] Chr1:872305..2642603 [GRCh38]
Chr1:807685..2574042 [GRCh37]
Chr1:797548..2563902 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x1 copy number loss See cases [RCV000052068] Chr1:872305..2642603 [GRCh38]
Chr1:807685..2574042 [GRCh37]
Chr1:797548..2563902 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1084373-3367776)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052069]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052069]|See cases [RCV000052069] Chr1:1084373..3367776 [GRCh38]
Chr1:1019753..3284340 [GRCh37]
Chr1:1009616..3274200 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1 copy number loss See cases [RCV000051995] Chr1:629044..7008678 [GRCh38]
Chr1:564424..7068738 [GRCh37]
Chr1:554287..6991325 [NCBI36]
Chr1:1p36.33-36.31		 pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:1181847-5507243)x1 copy number loss See cases [RCV000052070] Chr1:1181847..5507243 [GRCh38]
Chr1:1117227..5567303 [GRCh37]
Chr1:1107090..5489890 [NCBI36]
Chr1:1p36.33-36.31		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-4155674)x1 copy number loss See cases [RCV000051996] Chr1:821713..4155674 [GRCh38]
Chr1:757093..4215734 [GRCh37]
Chr1:746956..4115594 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844147-5970026)x1 copy number loss See cases [RCV000052014] Chr1:844147..5970026 [GRCh38]
Chr1:779527..6030086 [GRCh37]
Chr1:769390..5952673 [NCBI36]
Chr1:1p36.33-36.31		 pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844147-5827203)x1 copy number loss See cases [RCV000052015] Chr1:844147..5827203 [GRCh38]
Chr1:779527..5887263 [GRCh37]
Chr1:769390..5809850 [NCBI36]
Chr1:1p36.33-36.31		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844147-4598532)x1 copy number loss See cases [RCV000052017] Chr1:844147..4598532 [GRCh38]
Chr1:779527..4658592 [GRCh37]
Chr1:769390..4558452 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844147-5020772)x1 copy number loss See cases [RCV000052018] Chr1:844147..5020772 [GRCh38]
Chr1:779527..5080832 [GRCh37]
Chr1:769390..4980692 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-5363885)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052037]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052037]|See cases [RCV000052037] Chr1:844347..5363885 [GRCh38]
Chr1:779727..5423945 [GRCh37]
Chr1:769590..5323805 [NCBI36]
Chr1:1p36.33-36.31		 pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:844347-10809098)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]|See cases [RCV000052038] Chr1:844347..10809098 [GRCh38]
Chr1:779727..10869155 [GRCh37]
Chr1:769590..10791742 [NCBI36]
Chr1:1p36.33-36.22		 pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-5431639)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052039]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052039]|See cases [RCV000052039] Chr1:844347..5431639 [GRCh38]
Chr1:779727..5491699 [GRCh37]
Chr1:769590..5414286 [NCBI36]
Chr1:1p36.33-36.31		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-4665295)x1 copy number loss See cases [RCV000052040] Chr1:844347..4665295 [GRCh38]
Chr1:779727..4725355 [GRCh37]
Chr1:769590..4625215 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33(chr1:844347-2014739)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052041]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052041]|See cases [RCV000052041] Chr1:844347..2014739 [GRCh38]
Chr1:779727..1946178 [GRCh37]
Chr1:769590..1936038 [NCBI36]
Chr1:1p36.33		 pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:844347-7151129)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052042]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052042]|See cases [RCV000052042] Chr1:844347..7151129 [GRCh38]
Chr1:779727..7211189 [GRCh37]
Chr1:769590..7133776 [NCBI36]
Chr1:1p36.33-36.23		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:911300-3614487)x3 copy number gain See cases [RCV000133658] Chr1:911300..3614487 [GRCh38]
Chr1:846680..3531051 [GRCh37]
Chr1:836543..3520911 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33(chr1:1013081-1722599)x1 copy number loss See cases [RCV000134145] Chr1:1013081..1722599 [GRCh38]
Chr1:948461..1654038 [GRCh37]
Chr1:938324..1643898 [NCBI36]
Chr1:1p36.33		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1118636-4179080)x1 copy number loss See cases [RCV000134211] Chr1:1118636..4179080 [GRCh38]
Chr1:1054016..4239140 [GRCh37]
Chr1:1043879..4139000 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844353-3487877)x1 copy number loss See cases [RCV000134747] Chr1:844353..3487877 [GRCh38]
Chr1:779733..3404441 [GRCh37]
Chr1:769596..3394301 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844353-5827192)x3 copy number gain See cases [RCV000134750] Chr1:844353..5827192 [GRCh38]
Chr1:779733..5887252 [GRCh37]
Chr1:769596..5809839 [NCBI36]
Chr1:1p36.33-36.31		 pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-6916587)x1 copy number loss See cases [RCV000133943] Chr1:844347..6916587 [GRCh38]
Chr1:779727..6976647 [GRCh37]
Chr1:769590..6899234 [NCBI36]
Chr1:1p36.33-36.31		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-4398122)x1 copy number loss See cases [RCV000134137] Chr1:844347..4398122 [GRCh38]
Chr1:779727..4458182 [GRCh37]
Chr1:769590..4358042 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844353-2420916)x1 copy number loss See cases [RCV000134055] Chr1:844353..2420916 [GRCh38]
Chr1:779733..2352355 [GRCh37]
Chr1:769596..2342215 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33(chr1:932163-1792271)x4 copy number gain See cases [RCV000134939] Chr1:932163..1792271 [GRCh38]
Chr1:867543..1723710 [GRCh37]
Chr1:857406..1713570 [NCBI36]
Chr1:1p36.33		 likely benign
GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1 copy number loss See cases [RCV000136554] Chr1:844347..8171914 [GRCh38]
Chr1:779727..8231974 [GRCh37]
Chr1:769590..8154561 [NCBI36]
Chr1:1p36.33-36.23		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:874379-4973261)x1 copy number loss See cases [RCV000136715] Chr1:874379..4973261 [GRCh38]
Chr1:809759..5033321 [GRCh37]
Chr1:799622..4933181 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1 copy number loss See cases [RCV000136695] Chr1:844347..12470133 [GRCh38]
Chr1:779727..12530188 [GRCh37]
Chr1:769590..12452775 [NCBI36]
Chr1:1p36.33-36.22		 pathogenic|likely pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1022094-4665295)x1 copy number loss See cases [RCV000137380] Chr1:1022094..4665295 [GRCh38]
Chr1:957474..4725355 [GRCh37]
Chr1:947337..4625215 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-3569891)x1 copy number loss See cases [RCV000138225] Chr1:821713..3569891 [GRCh38]
Chr1:757093..3486455 [GRCh37]
Chr1:746956..3476315 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-3928354)x3 copy number gain See cases [RCV000138165] Chr1:821713..3928354 [GRCh38]
Chr1:757093..3823583 [GRCh37]
Chr1:746956..3834778 [NCBI36]
Chr1:1p36.33-36.32		 likely pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-2463016)x1 copy number loss See cases [RCV000137890] Chr1:821713..2463016 [GRCh38]
Chr1:757093..2394455 [GRCh37]
Chr1:746956..2384315 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-2463016)x4 copy number gain See cases [RCV000137894] Chr1:821713..2463016 [GRCh38]
Chr1:757093..2394455 [GRCh37]
Chr1:746956..2384315 [NCBI36]
Chr1:1p36.33-36.32		 uncertain significance
GRCh38/hg38 1p36.33-36.32(chr1:821713-5239643)x1 copy number loss See cases [RCV000137978] Chr1:821713..5239643 [GRCh38]
Chr1:757093..5299703 [GRCh37]
Chr1:746956..5199563 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844353-3153909)x1 copy number loss See cases [RCV000138704] Chr1:844353..3153909 [GRCh38]
Chr1:779733..3070473 [GRCh37]
Chr1:769596..3060333 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1072906-2806838)x1 copy number loss See cases [RCV000138883] Chr1:1072906..2806838 [GRCh38]
Chr1:1008286..2723403 [GRCh37]
Chr1:998149..2713263 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844353-6477474)x1 copy number loss See cases [RCV000139404] Chr1:844353..6477474 [GRCh38]
Chr1:779733..6537534 [GRCh37]
Chr1:769596..6460121 [NCBI36]
Chr1:1p36.33-36.31		 pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:821713-7000838)x1 copy number loss See cases [RCV000138896] Chr1:821713..7000838 [GRCh38]
Chr1:757093..7060898 [GRCh37]
Chr1:746956..6983485 [NCBI36]
Chr1:1p36.33-36.31		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:778698-4898439)x1 copy number loss See cases [RCV000140164] Chr1:778698..4898439 [GRCh38]
Chr1:714078..4958499 [GRCh37]
Chr1:703941..4858359 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-2554047)x1 copy number loss See cases [RCV000139876] Chr1:821713..2554047 [GRCh38]
Chr1:757093..2485486 [GRCh37]
Chr1:746956..2479281 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-3438208)x1 copy number loss See cases [RCV000139780] Chr1:821713..3438208 [GRCh38]
Chr1:757093..3354772 [GRCh37]
Chr1:746956..3344632 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-5099990)x1 copy number loss See cases [RCV000141318] Chr1:821713..5099990 [GRCh38]
Chr1:757093..5160050 [GRCh37]
Chr1:746956..5059910 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-2976123)x1 copy number loss See cases [RCV000141227] Chr1:821713..2976123 [GRCh38]
Chr1:757093..2892687 [GRCh37]
Chr1:746956..2882547 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-4225085)x1 copy number loss See cases [RCV000141356] Chr1:821713..4225085 [GRCh38]
Chr1:757093..4285145 [GRCh37]
Chr1:746956..4185005 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:821713-5480263)x1 copy number loss See cases [RCV000140709] Chr1:821713..5480263 [GRCh38]
Chr1:757093..5540323 [GRCh37]
Chr1:746956..5462910 [NCBI36]
Chr1:1p36.33-36.31		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:914086-2465738)x1 copy number loss See cases [RCV000140892] Chr1:914086..2465738 [GRCh38]
Chr1:849466..2397177 [GRCh37]
Chr1:839329..2387037 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:914086-3305463)x1 copy number loss See cases [RCV000140894] Chr1:914086..3305463 [GRCh38]
Chr1:849466..3222027 [GRCh37]
Chr1:839329..3211887 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1 copy number loss See cases [RCV000141970] Chr1:914086..9567122 [GRCh38]
Chr1:849466..9627180 [GRCh37]
Chr1:839329..9549767 [NCBI36]
Chr1:1p36.33-36.22		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:914086-3587042)x1 copy number loss See cases [RCV000141668] Chr1:914086..3587042 [GRCh38]
Chr1:849466..3503606 [GRCh37]
Chr1:839329..3493466 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1 copy number loss See cases [RCV000141577] Chr1:902111..9556305 [GRCh38]
Chr1:837491..9616363 [GRCh37]
Chr1:827354..9538950 [NCBI36]
Chr1:1p36.33-36.22		 pathogenic
GRCh38/hg38 1p36.33(chr1:914086-1538895)x1 copy number loss See cases [RCV000142178] Chr1:914086..1538895 [GRCh38]
Chr1:849466..1474275 [GRCh37]
Chr1:839329..1464138 [NCBI36]
Chr1:1p36.33		 likely pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:911300-2963389)x1 copy number loss See cases [RCV000142754] Chr1:911300..2963389 [GRCh38]
Chr1:846680..2879954 [GRCh37]
Chr1:836543..2869814 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic|likely pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:898721-7811306)x1 copy number loss See cases [RCV000142651] Chr1:898721..7811306 [GRCh38]
Chr1:834101..7871366 [GRCh37]
Chr1:823964..7793953 [NCBI36]
Chr1:1p36.33-36.23		 pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1 copy number loss See cases [RCV000142615] Chr1:911300..9329925 [GRCh38]
Chr1:846680..9389984 [GRCh37]
Chr1:836543..9312571 [NCBI36]
Chr1:1p36.33-36.22		 pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1 copy number loss See cases [RCV000142709] Chr1:844347..7870545 [GRCh38]
Chr1:779727..7930605 [GRCh37]
Chr1:769590..7853192 [NCBI36]
Chr1:1p36.33-36.23		 pathogenic
GRCh38/hg38 1p36.33(chr1:914086-1613769)x1 copy number loss See cases [RCV000143224] Chr1:914086..1613769 [GRCh38]
Chr1:849466..1549149 [GRCh37]
Chr1:839329..1539012 [NCBI36]
Chr1:1p36.33		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-2627474)x1 copy number loss See cases [RCV000148161] Chr1:844347..2627474 [GRCh38]
Chr1:779727..2558913 [GRCh37]
Chr1:769590..2548773 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844147-2963530)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052016]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052016]|See cases [RCV000052016] Chr1:844147..2963530 [GRCh38]
Chr1:779527..2880095 [GRCh37]
Chr1:769390..2869955 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-2636393)x1 copy number loss See cases [RCV000141208] Chr1:821713..2636393 [GRCh38]
Chr1:757093..2567832 [GRCh37]
Chr1:746956..2557692 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:874455-2577794)x1 copy number loss See cases [RCV000240189] Chr1:874455..2577794 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:852863-4203509)x3 copy number gain Distal trisomy 1p36 [RCV000519759] Chr1:852863..4203509 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
Single allele complex Breast ductal adenocarcinoma [RCV000207058] Chr1:909238..24706269 [GRCh37]
Chr1:1p36.33-36.11		 uncertain significance
chr1:909238-16736132 complex variant complex Breast ductal adenocarcinoma [RCV000207094] Chr1:909238..16736132 [GRCh37]
Chr1:1p36.33-36.13		 uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1 copy number loss See cases [RCV000239416] Chr1:82154..12699337 [GRCh37]
Chr1:1p36.33-36.22		 pathogenic
GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1 copy number loss See cases [RCV000240403] Chr1:746608..15077159 [GRCh37]
Chr1:1p36.33-36.21		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:874455-3177921)x1 copy number loss See cases [RCV000240333] Chr1:874455..3177921 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-3396845)x3 copy number gain See cases [RCV000449132] Chr1:849466..3396845 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-6566086)x1 copy number loss See cases [RCV000449148] Chr1:849466..6566086 [GRCh37]
Chr1:1p36.33-36.31		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-5318552)x1 copy number loss See cases [RCV000449322] Chr1:849466..5318552 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849466-9683808)x1 copy number loss See cases [RCV000446331] Chr1:849466..9683808 [GRCh37]
Chr1:1p36.33-36.22		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:19225-4401691)x3 copy number gain See cases [RCV000447000] Chr1:19225..4401691 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4099471)x1 copy number loss See cases [RCV000446544] Chr1:849466..4099471 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33(chr1:1226242-1268865)x3 copy number gain See cases [RCV000447162] Chr1:1226242..1268865 [GRCh37]
Chr1:1p36.33		 benign
GRCh37/hg19 1p36.33-36.32(chr1:564424-3582058)x1 copy number loss See cases [RCV000447515] Chr1:564424..3582058 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-5707515)x1 copy number loss See cases [RCV000448903] Chr1:849466..5707515 [GRCh37]
Chr1:1p36.33-36.31		 pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-7300178)x1 copy number loss See cases [RCV000448061] Chr1:849466..7300178 [GRCh37]
Chr1:1p36.33-36.23		 pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-6374209)x1 copy number loss See cases [RCV000512052] Chr1:849466..6374209 [GRCh37]
Chr1:1p36.33-36.31		 pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-6505278)x1 copy number loss See cases [RCV000510494] Chr1:849466..6505278 [GRCh37]
Chr1:1p36.33-36.31		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4048535)x1 copy number loss See cases [RCV000510640] Chr1:849466..4048535 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33(chr1:849466-1663402)x3 copy number gain See cases [RCV000510511] Chr1:849466..1663402 [GRCh37]
Chr1:1p36.33		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-2607016)x1 copy number loss See cases [RCV000511408] Chr1:849466..2607016 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-2330338)x1 copy number loss See cases [RCV000512029] Chr1:849466..2330338 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-7637060)x1 copy number loss See cases [RCV000511381] Chr1:849466..7637060 [GRCh37]
Chr1:1p36.33-36.23		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-2748837)x1 copy number loss See cases [RCV000511834] Chr1:849466..2748837 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-2554275)x1 copy number loss See cases [RCV000510858] Chr1:849466..2554275 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_001130413.4(SCNN1D):c.391C>T (p.Pro131Ser) single nucleotide variant not specified [RCV004312572] Chr1:1284017 [GRCh38]
Chr1:1219397 [GRCh37]
Chr1:1p36.33		 uncertain significance
NC_000001.11:g.(?_1020153)_(1313808_?)del deletion Congenital myasthenic syndrome 8 [RCV000651427] Chr1:1020153..1313808 [GRCh38]
Chr1:955533..1249188 [GRCh37]
Chr1:1p36.33		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-5352492)x1 copy number loss See cases [RCV000512243] Chr1:849466..5352492 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-8901938)x1 copy number loss See cases [RCV000512568] Chr1:849466..8901938 [GRCh37]
Chr1:1p36.33-36.23		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4262915)x1 copy number loss not provided [RCV000684533] Chr1:849466..4262915 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-7305595)x1 copy number loss not provided [RCV000684534] Chr1:849466..7305595 [GRCh37]
Chr1:1p36.33-36.23		 pathogenic
GRCh37/hg19 1p36.33(chr1:1129318-2040693)x1 copy number loss not provided [RCV000684535] Chr1:1129318..2040693 [GRCh37]
Chr1:1p36.33		 likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33(chr1:1221530-1226757)x1 copy number loss not provided [RCV000736329] Chr1:1221530..1226757 [GRCh37]
Chr1:1p36.33		 benign
GRCh37/hg19 1p36.33(chr1:1221530-1226851)x1 copy number loss not provided [RCV000736330] Chr1:1221530..1226851 [GRCh37]
Chr1:1p36.33		 benign
GRCh37/hg19 1p36.33(chr1:1221530-1226912)x1 copy number loss not provided [RCV000736331] Chr1:1221530..1226912 [GRCh37]
Chr1:1p36.33		 benign
GRCh37/hg19 1p36.33(chr1:1221530-1267908)x1 copy number loss not provided [RCV000736332] Chr1:1221530..1267908 [GRCh37]
Chr1:1p36.33		 benign
GRCh37/hg19 1p36.33(chr1:1221530-1271808)x3 copy number gain not provided [RCV000736333] Chr1:1221530..1271808 [GRCh37]
Chr1:1p36.33		 benign
GRCh37/hg19 1p36.33(chr1:1221530-1289863)x3 copy number gain not provided [RCV000736334] Chr1:1221530..1289863 [GRCh37]
Chr1:1p36.33		 benign
GRCh37/hg19 1p36.33(chr1:1222529-1247820)x3 copy number gain not provided [RCV000736336] Chr1:1222529..1247820 [GRCh37]
Chr1:1p36.33		 benign
GRCh37/hg19 1p36.33(chr1:1222596-1248041)x3 copy number gain not provided [RCV000736337] Chr1:1222596..1248041 [GRCh37]
Chr1:1p36.33		 benign
GRCh37/hg19 1p36.33(chr1:1223122-1247469)x3 copy number gain not provided [RCV000736339] Chr1:1223122..1247469 [GRCh37]
Chr1:1p36.33		 benign
GRCh37/hg19 1p36.33(chr1:1223122-1247820)x3 copy number gain not provided [RCV000736340] Chr1:1223122..1247820 [GRCh37]
Chr1:1p36.33		 benign
GRCh37/hg19 1p36.33(chr1:1223385-1289863)x3 copy number gain not provided [RCV000736341] Chr1:1223385..1289863 [GRCh37]
Chr1:1p36.33		 benign
GRCh37/hg19 1p36.33-36.32(chr1:82154-3340855)x1 copy number loss not provided [RCV000736303] Chr1:82154..3340855 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33(chr1:82154-1226512)x3 copy number gain not provided [RCV000736300] Chr1:82154..1226512 [GRCh37]
Chr1:1p36.33		 benign
GRCh37/hg19 1p36.33-36.23(chr1:82154-7936272)x1 copy number loss not provided [RCV000736304] Chr1:82154..7936272 [GRCh37]
Chr1:1p36.33-36.23		 pathogenic
GRCh37/hg19 1p36.33(chr1:1222963-1226063)x1 copy number loss not provided [RCV000736338] Chr1:1222963..1226063 [GRCh37]
Chr1:1p36.33		 benign
GRCh37/hg19 1p36.33(chr1:1226757-1233490)x4 copy number gain not provided [RCV000736342] Chr1:1226757..1233490 [GRCh37]
Chr1:1p36.33		 benign
GRCh37/hg19 1p36.33-36.31(chr1:47851-6659872)x1 copy number loss not provided [RCV000736294] Chr1:47851..6659872 [GRCh37]
Chr1:1p36.33-36.31		 pathogenic
GRCh37/hg19 1p36.33(chr1:1222051-1225559)x1 copy number loss not provided [RCV000736335] Chr1:1222051..1225559 [GRCh37]
Chr1:1p36.33		 benign
GRCh37/hg19 1p36.33(chr1:1226757-1244646)x4 copy number gain not provided [RCV000736343] Chr1:1226757..1244646 [GRCh37]
Chr1:1p36.33		 benign
GRCh37/hg19 1p36.33(chr1:1226757-1246972)x4 copy number gain not provided [RCV000736344] Chr1:1226757..1246972 [GRCh37]
Chr1:1p36.33		 benign
GRCh37/hg19 1p36.33(chr1:82154-1289863)x3 copy number gain not provided [RCV000736302] Chr1:82154..1289863 [GRCh37]
Chr1:1p36.33		 benign
GRCh37/hg19 1p36.33(chr1:82154-1289835)x3 copy number gain not provided [RCV000736301] Chr1:82154..1289835 [GRCh37]
Chr1:1p36.33		 benign
GRCh37/hg19 1p36.33(chr1:727037-1366830)x1 copy number loss not provided [RCV000748800] Chr1:727037..1366830 [GRCh37]
Chr1:1p36.33		 likely benign
GRCh37/hg19 1p36.33-36.32(chr1:977062-5179574)x1 copy number loss not provided [RCV000748814] Chr1:977062..5179574 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33(chr1:1121794-1346905)x3 copy number gain not provided [RCV000748819] Chr1:1121794..1346905 [GRCh37]
Chr1:1p36.33		 benign
GRCh37/hg19 1p36.33(chr1:1130727-1289863)x3 copy number gain not provided [RCV000748822] Chr1:1130727..1289863 [GRCh37]
Chr1:1p36.33		 benign
GRCh37/hg19 1p36.33(chr1:1138913-1226512)x3 copy number gain not provided [RCV000748823] Chr1:1138913..1226512 [GRCh37]
Chr1:1p36.33		 benign
GRCh37/hg19 1p36.33(chr1:1219775-1288823)x1 copy number loss not provided [RCV000748827] Chr1:1219775..1288823 [GRCh37]
Chr1:1p36.33		 benign
GRCh37/hg19 1p36.33(chr1:849466-1314437)x1 copy number loss not provided [RCV000684531] Chr1:849466..1314437 [GRCh37]
Chr1:1p36.33		 pathogenic
GRCh37/hg19 1p36.33(chr1:849466-2240632)x1 copy number loss not provided [RCV000684532] Chr1:849466..2240632 [GRCh37]
Chr1:1p36.33		 pathogenic
GRCh37/hg19 1p36.33(chr1:1138913-1289863)x3 copy number gain not provided [RCV000748824] Chr1:1138913..1289863 [GRCh37]
Chr1:1p36.33		 benign
GRCh37/hg19 1p36.33(chr1:1219382-1226851)x1 copy number loss not provided [RCV000748825] Chr1:1219382..1226851 [GRCh37]
Chr1:1p36.33		 benign
GRCh37/hg19 1p36.33(chr1:1219775-1225559)x0 copy number loss not provided [RCV000748826] Chr1:1219775..1225559 [GRCh37]
Chr1:1p36.33		 benign
GRCh37/hg19 1p36.33(chr1:1220136-1225559)x0 copy number loss not provided [RCV000748828] Chr1:1220136..1225559 [GRCh37]
Chr1:1p36.33		 benign
GRCh37/hg19 1p36.33(chr1:1220136-1226512)x3 copy number gain not provided [RCV000748829] Chr1:1220136..1226512 [GRCh37]
Chr1:1p36.33		 benign
GRCh37/hg19 1p36.33-36.31(chr1:536777-6012896)x1 copy number loss not provided [RCV003312163] Chr1:536777..6012896 [GRCh37]
Chr1:1p36.33-36.31		 pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:82154-7637060)x1 copy number loss See cases [RCV000790584] Chr1:82154..7637060 [GRCh37]
Chr1:1p36.33-36.23		 pathogenic
NC_000001.10:g.(?_955543)_(2238214_?)del deletion Congenital myasthenic syndrome 8 [RCV001033252] Chr1:955543..2238214 [GRCh37]
Chr1:1p36.33		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:82154-3349513)x3 copy number gain See cases [RCV001007411] Chr1:82154..3349513 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
NC_000001.11:g.(?_1013554)_(1313808_?)del deletion Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001032824] Chr1:948934..1249188 [GRCh37]
Chr1:1p36.33		 uncertain significance
GRCh37/hg19 1p36.33(chr1:849466-1649932)x1 copy number loss not provided [RCV001005056] Chr1:849466..1649932 [GRCh37]
Chr1:1p36.33		 uncertain significance
GRCh37/hg19 1p36.33(chr1:568708-1283779) copy number loss not provided [RCV000767825] Chr1:568708..1283779 [GRCh37]
Chr1:1p36.33		 likely pathogenic
NC_000001.10:g.(?_955543)_(2957600_?)del deletion Shprintzen-Goldberg syndrome [RCV000816642] Chr1:955543..2957600 [GRCh37]
Chr1:1p36.33-36.32		 uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:568708-3662949) copy number loss Chromosome 1p36 deletion syndrome [RCV000767775] Chr1:568708..3662949 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1 copy number loss See cases [RCV000790592] Chr1:82154..11784118 [GRCh37]
Chr1:1p36.33-36.22		 pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:823964-6828363) copy number loss Chromosome 1p36 deletion syndrome [RCV000767774] Chr1:823964..6828363 [GRCh37]
Chr1:1p36.33-36.31		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:568708-2567832) copy number loss Chromosome 1p36 deletion syndrome [RCV000767776] Chr1:568708..2567832 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787413] Chr1:554375..9779842 [GRCh37]
Chr1:1p36.33-36.22		 pathogenic
GRCh37/hg19 1p36.33(chr1:727731-2107858)x3 copy number gain not provided [RCV000846682] Chr1:727731..2107858 [GRCh37]
Chr1:1p36.33		 uncertain significance
GRCh37/hg19 1p36.33-36.31(chr1:849466-5625566)x1 copy number loss not provided [RCV001005059] Chr1:849466..5625566 [GRCh37]
Chr1:1p36.33-36.31		 pathogenic
NM_001130413.4(SCNN1D):c.67G>A (p.Gly23Ser) single nucleotide variant not specified [RCV004288592] Chr1:1281287 [GRCh38]
Chr1:1216667 [GRCh37]
Chr1:1p36.33		 uncertain significance
GRCh37/hg19 1p36.33-36.23(chr1:849466-7786545)x1 copy number loss not provided [RCV001005057] Chr1:849466..7786545 [GRCh37]
Chr1:1p36.33-36.23		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4829059)x1 copy number loss not provided [RCV001005060] Chr1:849466..4829059 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-6002955)x1 copy number loss not provided [RCV001005058] Chr1:849466..6002955 [GRCh37]
Chr1:1p36.33-36.31		 pathogenic
NC_000001.10:g.(?_955543)_(3350385_?)del deletion Left ventricular noncompaction 8 [RCV001033604] Chr1:955543..3350385 [GRCh37]
Chr1:1p36.33-36.32		 uncertain significance
GRCh37/hg19 1p36.33-36.23(chr1:762080-7309686) copy number loss Harel-Yoon syndrome [RCV001254115] Chr1:762080..7309686 [GRCh37]
Chr1:1p36.33-36.23		 likely pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-2518608)x1 copy number loss See cases [RCV002285055] Chr1:849466..2518608 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33(chr1:849466-1806659)x1 copy number loss not provided [RCV001260110] Chr1:849466..1806659 [GRCh37]
Chr1:1p36.33		 likely pathogenic
GRCh37/hg19 1p36.33(chr1:753462-1717335)x1 copy number loss not provided [RCV001270634] Chr1:753462..1717335 [GRCh37]
Chr1:1p36.33		 pathogenic
GRCh37/hg19 1p36.33(chr1:849466-2033256)x1 copy number loss not provided [RCV001260111] Chr1:849466..2033256 [GRCh37]
Chr1:1p36.33		 pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:1-5592835)x1 copy number loss not provided [RCV001260116] Chr1:1..5592835 [GRCh37]
Chr1:1p36.33-36.31		 pathogenic
NC_000001.10:g.(?_948954)_(1284445_?)dup duplication Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001305754]|not provided [RCV001308818] Chr1:948954..1284445 [GRCh37]
Chr1:1p36.33		 uncertain significance|no classifications from unflagged records
Single allele deletion Chromosome 1p36 deletion syndrome [RCV002247723] Chr1:817861..1836133 [GRCh38]
Chr1:1p36.33		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:753552-4034574)x1 copy number loss not provided [RCV001795535] Chr1:753552..4034574 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
NM_001130413.4(SCNN1D):c.736C>T (p.Arg246Cys) single nucleotide variant not provided [RCV001810787]|not specified [RCV004040884] Chr1:1286103 [GRCh38]
Chr1:1221483 [GRCh37]
Chr1:1p36.33		 uncertain significance
GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1 copy number loss not provided [RCV001832902] Chr1:849466..17525065 [GRCh37]
Chr1:1p36.33-36.13		 pathogenic
NC_000001.10:g.(?_989123)_(3160711_?)del deletion Left ventricular noncompaction 8 [RCV002004579] Chr1:989123..3160711 [GRCh37]
Chr1:1p36.33-36.32		 uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:849466-2621542)x1 copy number loss not provided [RCV001829223] Chr1:849466..2621542 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
NC_000001.10:g.(?_861322)_(3768971_?)del deletion Combined immunodeficiency due to OX40 deficiency [RCV001919158]|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001923367]|Joubert syndrome 25 [RCV001923368]|Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency [RCV001919159]|Peroxisome biogenesis disorder, complementation group 7 [RCV001919157]|not provided [RCV001943250] Chr1:861322..3768971 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic|uncertain significance|no classifications from unflagged records
NC_000001.10:g.(?_955553)_(3350375_?)del deletion Left ventricular noncompaction 8 [RCV001955735] Chr1:955553..3350375 [GRCh37]
Chr1:1p36.33-36.32		 uncertain significance
NC_000001.10:g.(?_861322)_(2161194_?)del deletion Idiopathic generalized epilepsy [RCV002050272] Chr1:861322..2161194 [GRCh37]
Chr1:1p36.33		 uncertain significance
GRCh37/hg19 1p36.33-36.31(chr1:849466-5625566) copy number loss Chromosome 1p36 deletion syndrome [RCV002280715] Chr1:849466..5625566 [GRCh37]
Chr1:1p36.33-36.31		 pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:834101-7930605)x1 copy number loss Chromosome 1p36 deletion syndrome [RCV002279763] Chr1:834101..7930605 [GRCh37]
Chr1:1p36.33-36.23		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4183006) copy number loss Chromosome 1p36 deletion syndrome [RCV002280716] Chr1:849466..4183006 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804) copy number loss Chromosome 1p36 deletion syndrome, proximal [RCV002280717] Chr1:849466..10258804 [GRCh37]
Chr1:1p36.33-36.22		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:1130311-2397177)x3 copy number gain not provided [RCV002474934] Chr1:1130311..2397177 [GRCh37]
Chr1:1p36.33-36.32		 uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1 copy number loss not provided [RCV002473951] Chr1:849467..12448956 [GRCh37]
Chr1:1p36.33-36.22		 pathogenic
GRCh37/hg19 1p36.33(chr1:1129319-1264880)x1 copy number loss not provided [RCV002474760] Chr1:1129319..1264880 [GRCh37]
Chr1:1p36.33		 uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:849467-2972435)x1 copy number loss not provided [RCV002472529] Chr1:849467..2972435 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
NM_001130413.4(SCNN1D):c.190G>A (p.Gly64Arg) single nucleotide variant not specified [RCV004219416] Chr1:1281523 [GRCh38]
Chr1:1216903 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.784G>A (p.Ala262Thr) single nucleotide variant not specified [RCV004191545] Chr1:1286151 [GRCh38]
Chr1:1221531 [GRCh37]
Chr1:1p36.33		 likely benign
NM_001130413.4(SCNN1D):c.2167G>A (p.Val723Met) single nucleotide variant not specified [RCV004226601] Chr1:1291368 [GRCh38]
Chr1:1226748 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.2297C>T (p.Pro766Leu) single nucleotide variant not specified [RCV004200530] Chr1:1291498 [GRCh38]
Chr1:1226878 [GRCh37]
Chr1:1p36.33		 likely benign
NM_001130413.4(SCNN1D):c.275C>A (p.Thr92Lys) single nucleotide variant not specified [RCV004107480] Chr1:1281608 [GRCh38]
Chr1:1216988 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.1701G>C (p.Glu567Asp) single nucleotide variant not specified [RCV004101245] Chr1:1290309 [GRCh38]
Chr1:1225689 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.194C>T (p.Pro65Leu) single nucleotide variant not specified [RCV004089973] Chr1:1281527 [GRCh38]
Chr1:1216907 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.2362G>A (p.Glu788Lys) single nucleotide variant not specified [RCV004186223] Chr1:1291563 [GRCh38]
Chr1:1226943 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.572C>T (p.Thr191Met) single nucleotide variant not specified [RCV004085096] Chr1:1285939 [GRCh38]
Chr1:1221319 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.2219G>A (p.Ser740Asn) single nucleotide variant not specified [RCV004184789] Chr1:1291420 [GRCh38]
Chr1:1226800 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.1945C>G (p.Gln649Glu) single nucleotide variant not specified [RCV004246987] Chr1:1290922 [GRCh38]
Chr1:1226302 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.2188C>T (p.Arg730Cys) single nucleotide variant not specified [RCV004080877] Chr1:1291389 [GRCh38]
Chr1:1226769 [GRCh37]
Chr1:1p36.33		 likely benign
NM_001130413.4(SCNN1D):c.2320C>T (p.Pro774Ser) single nucleotide variant not specified [RCV004170234] Chr1:1291521 [GRCh38]
Chr1:1226901 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.860C>T (p.Ser287Leu) single nucleotide variant not specified [RCV004240671] Chr1:1286227 [GRCh38]
Chr1:1221607 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.1765C>T (p.Arg589Trp) single nucleotide variant not specified [RCV004182257] Chr1:1290373 [GRCh38]
Chr1:1225753 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.1814A>G (p.Glu605Gly) single nucleotide variant not specified [RCV004132354] Chr1:1290510 [GRCh38]
Chr1:1225890 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.1172C>T (p.Ala391Val) single nucleotide variant not specified [RCV004232211] Chr1:1287161 [GRCh38]
Chr1:1222541 [GRCh37]
Chr1:1p36.33		 likely benign
NM_001130413.4(SCNN1D):c.1874A>G (p.Lys625Arg) single nucleotide variant not specified [RCV004188762] Chr1:1290651 [GRCh38]
Chr1:1226031 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.157G>A (p.Gly53Arg) single nucleotide variant not specified [RCV004247248] Chr1:1281490 [GRCh38]
Chr1:1216870 [GRCh37]
Chr1:1p36.33		 likely benign
NM_001130413.4(SCNN1D):c.1609G>A (p.Gly537Ser) single nucleotide variant not specified [RCV004205819] Chr1:1287984 [GRCh38]
Chr1:1223364 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.55G>A (p.Gly19Ser) single nucleotide variant not specified [RCV004200912] Chr1:1281275 [GRCh38]
Chr1:1216655 [GRCh37]
Chr1:1p36.33		 likely benign
NM_001130413.4(SCNN1D):c.2208G>T (p.Trp736Cys) single nucleotide variant not specified [RCV004083014] Chr1:1291409 [GRCh38]
Chr1:1226789 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.2281G>A (p.Gly761Ser) single nucleotide variant not specified [RCV004106544] Chr1:1291482 [GRCh38]
Chr1:1226862 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.418T>C (p.Trp140Arg) single nucleotide variant not specified [RCV004087566] Chr1:1284044 [GRCh38]
Chr1:1219424 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.985G>A (p.Val329Ile) single nucleotide variant not specified [RCV004073629] Chr1:1286841 [GRCh38]
Chr1:1222221 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.596C>T (p.Ser199Leu) single nucleotide variant not provided [RCV004691553]|not specified [RCV004230462] Chr1:1285963 [GRCh38]
Chr1:1221343 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.257C>T (p.Pro86Leu) single nucleotide variant not specified [RCV004101282] Chr1:1281590 [GRCh38]
Chr1:1216970 [GRCh37]
Chr1:1p36.33		 likely benign
NM_001130413.4(SCNN1D):c.2210C>T (p.Pro737Leu) single nucleotide variant not specified [RCV004201360] Chr1:1291411 [GRCh38]
Chr1:1226791 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.164C>T (p.Ala55Val) single nucleotide variant not specified [RCV004187824] Chr1:1281497 [GRCh38]
Chr1:1216877 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.2039C>T (p.Ala680Val) single nucleotide variant not specified [RCV004209590] Chr1:1291127 [GRCh38]
Chr1:1226507 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.2380C>T (p.Pro794Ser) single nucleotide variant not specified [RCV004112397] Chr1:1291581 [GRCh38]
Chr1:1226961 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.2234C>T (p.Ala745Val) single nucleotide variant not specified [RCV004146308] Chr1:1291435 [GRCh38]
Chr1:1226815 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.677T>C (p.Phe226Ser) single nucleotide variant not specified [RCV004112320] Chr1:1286044 [GRCh38]
Chr1:1221424 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.32C>T (p.Pro11Leu) single nucleotide variant not specified [RCV004225350] Chr1:1281252 [GRCh38]
Chr1:1216632 [GRCh37]
Chr1:1p36.33		 likely benign
NM_001130413.4(SCNN1D):c.818G>A (p.Arg273His) single nucleotide variant not specified [RCV004241455] Chr1:1286185 [GRCh38]
Chr1:1221565 [GRCh37]
Chr1:1p36.33		 likely benign
NM_001130413.4(SCNN1D):c.352G>A (p.Glu118Lys) single nucleotide variant not specified [RCV004213319] Chr1:1283978 [GRCh38]
Chr1:1219358 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.2348C>T (p.Ala783Val) single nucleotide variant not specified [RCV004166512] Chr1:1291549 [GRCh38]
Chr1:1226929 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.712C>T (p.Arg238Cys) single nucleotide variant not specified [RCV004226910] Chr1:1286079 [GRCh38]
Chr1:1221459 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.1600T>G (p.Cys534Gly) single nucleotide variant not specified [RCV004178616] Chr1:1287975 [GRCh38]
Chr1:1223355 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.1030C>T (p.Arg344Cys) single nucleotide variant not specified [RCV004207450] Chr1:1286886 [GRCh38]
Chr1:1222266 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.2074A>G (p.Met692Val) single nucleotide variant not specified [RCV004157802] Chr1:1291275 [GRCh38]
Chr1:1226655 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.898G>A (p.Gly300Arg) single nucleotide variant not specified [RCV004190227] Chr1:1286265 [GRCh38]
Chr1:1221645 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.1528C>T (p.Arg510Trp) single nucleotide variant not specified [RCV004209204] Chr1:1287801 [GRCh38]
Chr1:1223181 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.1577G>A (p.Arg526Gln) single nucleotide variant not specified [RCV004077831] Chr1:1287952 [GRCh38]
Chr1:1223332 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.2189G>A (p.Arg730His) single nucleotide variant not specified [RCV004214453] Chr1:1291390 [GRCh38]
Chr1:1226770 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.1459G>C (p.Ala487Pro) single nucleotide variant not specified [RCV004076595] Chr1:1287732 [GRCh38]
Chr1:1223112 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.146C>T (p.Thr49Ile) single nucleotide variant not specified [RCV004219797] Chr1:1281479 [GRCh38]
Chr1:1216859 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.2183G>A (p.Arg728Gln) single nucleotide variant not specified [RCV004192224] Chr1:1291384 [GRCh38]
Chr1:1226764 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.445G>T (p.Gly149Trp) single nucleotide variant not specified [RCV004228165] Chr1:1284071 [GRCh38]
Chr1:1219451 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.437A>G (p.Gln146Arg) single nucleotide variant not specified [RCV004133711] Chr1:1284063 [GRCh38]
Chr1:1219443 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.1334C>T (p.Pro445Leu) single nucleotide variant not specified [RCV004278378] Chr1:1287531 [GRCh38]
Chr1:1222911 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.991C>T (p.Leu331Phe) single nucleotide variant not specified [RCV004248067] Chr1:1286847 [GRCh38]
Chr1:1222227 [GRCh37]
Chr1:1p36.33		 likely benign
NM_001130413.4(SCNN1D):c.1442C>G (p.Pro481Arg) single nucleotide variant not specified [RCV004261748] Chr1:1287715 [GRCh38]
Chr1:1223095 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.2198G>C (p.Trp733Ser) single nucleotide variant not specified [RCV004263419] Chr1:1291399 [GRCh38]
Chr1:1226779 [GRCh37]
Chr1:1p36.33		 uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:1-2580976)x1 copy number loss Chromosome 1p36 deletion syndrome [RCV003226604] Chr1:1..2580976 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
NM_001130413.4(SCNN1D):c.1454C>T (p.Thr485Met) single nucleotide variant not specified [RCV004311193] Chr1:1287727 [GRCh38]
Chr1:1223107 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.1658G>C (p.Arg553Thr) single nucleotide variant not specified [RCV004338012] Chr1:1288033 [GRCh38]
Chr1:1223413 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.1040C>T (p.Pro347Leu) single nucleotide variant not specified [RCV004339052] Chr1:1286896 [GRCh38]
Chr1:1222276 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.1706G>T (p.Cys569Phe) single nucleotide variant not specified [RCV004360525] Chr1:1290314 [GRCh38]
Chr1:1225694 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.1747G>A (p.Glu583Lys) single nucleotide variant not specified [RCV004336022] Chr1:1290355 [GRCh38]
Chr1:1225735 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.1277C>G (p.Ser426Cys) single nucleotide variant not specified [RCV004353081] Chr1:1287266 [GRCh38]
Chr1:1222646 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.661C>T (p.Arg221Trp) single nucleotide variant not specified [RCV004341536] Chr1:1286028 [GRCh38]
Chr1:1221408 [GRCh37]
Chr1:1p36.33		 uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:1089596-2607016)x3 copy number gain not provided [RCV003483999] Chr1:1089596..2607016 [GRCh37]
Chr1:1p36.33-36.32		 uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1 copy number loss not provided [RCV003482961] Chr1:849467..9627901 [GRCh37]
Chr1:1p36.33-36.22		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:1129319-3615916)x3 copy number gain not provided [RCV003484001] Chr1:1129319..3615916 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:1182855-2431925)x1 copy number loss not provided [RCV003482994] Chr1:1182855..2431925 [GRCh37]
Chr1:1p36.33-36.32		 likely pathogenic
GRCh37/hg19 1p36.33(chr1:1138880-1647481)x3 copy number gain not provided [RCV003484002] Chr1:1138880..1647481 [GRCh37]
Chr1:1p36.33		 uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:849467-3500877)x1 copy number loss not provided [RCV003482983] Chr1:849467..3500877 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3 copy number gain Trisomy 12p [RCV003447845] Chr1:99125..34026935 [GRCh38]
Chr1:1p36.33-35.1		 pathogenic
NM_001130413.4(SCNN1D):c.717G>A (p.Leu239=) single nucleotide variant not provided [RCV003412593] Chr1:1286084 [GRCh38]
Chr1:1221464 [GRCh37]
Chr1:1p36.33		 likely benign
NM_001130413.4(SCNN1D):c.1035C>T (p.His345=) single nucleotide variant not provided [RCV003412594] Chr1:1286891 [GRCh38]
Chr1:1222271 [GRCh37]
Chr1:1p36.33		 likely benign
NM_001130413.4(SCNN1D):c.1287C>T (p.Tyr429=) single nucleotide variant not provided [RCV003412595] Chr1:1287276 [GRCh38]
Chr1:1222656 [GRCh37]
Chr1:1p36.33		 likely benign
NM_001130413.4(SCNN1D):c.1288G>A (p.Asp430Asn) single nucleotide variant not provided [RCV003412596] Chr1:1287277 [GRCh38]
Chr1:1222657 [GRCh37]
Chr1:1p36.33		 likely benign
NM_001130413.4(SCNN1D):c.1398C>T (p.His466=) single nucleotide variant not provided [RCV003412597] Chr1:1287595 [GRCh38]
Chr1:1222975 [GRCh37]
Chr1:1p36.33		 likely benign
NM_001130413.4(SCNN1D):c.1740G>A (p.Ala580=) single nucleotide variant not provided [RCV003412598] Chr1:1290348 [GRCh38]
Chr1:1225728 [GRCh37]
Chr1:1p36.33		 likely benign
NM_001130413.4(SCNN1D):c.1823G>A (p.Arg608Gln) single nucleotide variant not provided [RCV003412599] Chr1:1290519 [GRCh38]
Chr1:1225899 [GRCh37]
Chr1:1p36.33		 likely benign
GRCh37/hg19 1p36.33-36.32(chr1:849466-4529103)x3 copy number gain not specified [RCV003986984] Chr1:849466..4529103 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1 copy number loss not specified [RCV003986962] Chr1:849466..8966102 [GRCh37]
Chr1:1p36.33-36.23		 pathogenic
NM_001130413.4(SCNN1D):c.1419G>T (p.Arg473Ser) single nucleotide variant not specified [RCV004454976] Chr1:1287692 [GRCh38]
Chr1:1223072 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.1981A>C (p.Ser661Arg) single nucleotide variant not specified [RCV004454984] Chr1:1291069 [GRCh38]
Chr1:1226449 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.2110G>A (p.Val704Ile) single nucleotide variant not specified [RCV004454985] Chr1:1291311 [GRCh38]
Chr1:1226691 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.749C>T (p.Thr250Met) single nucleotide variant not specified [RCV004454994] Chr1:1286116 [GRCh38]
Chr1:1221496 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.1951C>A (p.Leu651Met) single nucleotide variant not specified [RCV004454982] Chr1:1290928 [GRCh38]
Chr1:1226308 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.538G>A (p.Ala180Thr) single nucleotide variant not specified [RCV004454992] Chr1:1285644 [GRCh38]
Chr1:1221024 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.2367G>T (p.Glu789Asp) single nucleotide variant not specified [RCV004454990] Chr1:1291568 [GRCh38]
Chr1:1226948 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.1531C>G (p.Pro511Ala) single nucleotide variant not specified [RCV004454978] Chr1:1287804 [GRCh38]
Chr1:1223184 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.2180G>A (p.Arg727His) single nucleotide variant not specified [RCV004454987] Chr1:1291381 [GRCh38]
Chr1:1226761 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.314C>T (p.Thr105Met) single nucleotide variant not specified [RCV004454991] Chr1:1282278 [GRCh38]
Chr1:1217658 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.1360G>T (p.Asp454Tyr) single nucleotide variant not specified [RCV004454975] Chr1:1287557 [GRCh38]
Chr1:1222937 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.1787G>C (p.Cys596Ser) single nucleotide variant not specified [RCV004454980] Chr1:1290483 [GRCh38]
Chr1:1225863 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.53C>G (p.Pro18Arg) single nucleotide variant not specified [RCV004454993] Chr1:1281273 [GRCh38]
Chr1:1216653 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.920C>T (p.Pro307Leu) single nucleotide variant not specified [RCV004454995] Chr1:1286776 [GRCh38]
Chr1:1222156 [GRCh37]
Chr1:1p36.33		 likely benign
NM_001130413.4(SCNN1D):c.1525G>A (p.Val509Ile) single nucleotide variant not specified [RCV004454977] Chr1:1287798 [GRCh38]
Chr1:1223178 [GRCh37]
Chr1:1p36.33		 likely benign
NM_001130413.4(SCNN1D):c.1766G>A (p.Arg589Gln) single nucleotide variant not specified [RCV004454979] Chr1:1290374 [GRCh38]
Chr1:1225754 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.1811T>A (p.Leu604Gln) single nucleotide variant not specified [RCV004454981] Chr1:1290507 [GRCh38]
Chr1:1225887 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.2119C>G (p.Leu707Val) single nucleotide variant not specified [RCV004454986] Chr1:1291320 [GRCh38]
Chr1:1226700 [GRCh37]
Chr1:1p36.33		 likely benign
NM_001130413.4(SCNN1D):c.2324G>A (p.Arg775Gln) single nucleotide variant not specified [RCV004454988] Chr1:1291525 [GRCh38]
Chr1:1226905 [GRCh37]
Chr1:1p36.33		 likely benign
NM_001130413.4(SCNN1D):c.929G>A (p.Arg310His) single nucleotide variant not specified [RCV004454996] Chr1:1286785 [GRCh38]
Chr1:1222165 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.1115G>A (p.Arg372Lys) single nucleotide variant not specified [RCV004658824] Chr1:1286971 [GRCh38]
Chr1:1222351 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.2023C>T (p.Arg675Cys) single nucleotide variant not specified [RCV004658827] Chr1:1291111 [GRCh38]
Chr1:1226491 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.2237C>A (p.Ser746Tyr) single nucleotide variant not specified [RCV004658828] Chr1:1291438 [GRCh38]
Chr1:1226818 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.467C>T (p.Ser156Leu) single nucleotide variant not specified [RCV004658829] Chr1:1285573 [GRCh38]
Chr1:1220953 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.1844G>A (p.Cys615Tyr) single nucleotide variant not specified [RCV004658830] Chr1:1290540 [GRCh38]
Chr1:1225920 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.1033C>T (p.His345Tyr) single nucleotide variant not provided [RCV004575020] Chr1:1286889 [GRCh38]
Chr1:1222269 [GRCh37]
Chr1:1p36.33		 likely benign
NM_001130413.4(SCNN1D):c.395C>T (p.Pro132Leu) single nucleotide variant not specified [RCV004658823] Chr1:1284021 [GRCh38]
Chr1:1219401 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.1261G>A (p.Gly421Ser) single nucleotide variant not provided [RCV004575124] Chr1:1287250 [GRCh38]
Chr1:1222630 [GRCh37]
Chr1:1p36.33		 likely benign
NC_000001.10:g.(?_1146935)_(3768971_?)del deletion Shprintzen-Goldberg syndrome [RCV004584004] Chr1:1146935..3768971 [GRCh37]
Chr1:1p36.33-36.32		 uncertain significance
NM_001130413.4(SCNN1D):c.1405G>A (p.Gly469Ser) single nucleotide variant not specified [RCV004658826] Chr1:1287678 [GRCh38]
Chr1:1223058 [GRCh37]
Chr1:1p36.33		 likely benign
NM_001130413.4(SCNN1D):c.1136G>A (p.Gly379Asp) single nucleotide variant not specified [RCV004674622] Chr1:1287125 [GRCh38]
Chr1:1222505 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.2323C>T (p.Arg775Trp) single nucleotide variant not specified [RCV004674623] Chr1:1291524 [GRCh38]
Chr1:1226904 [GRCh37]
Chr1:1p36.33		 likely benign
NM_001130413.4(SCNN1D):c.122G>A (p.Arg41Gln) single nucleotide variant not specified [RCV004674624] Chr1:1281455 [GRCh38]
Chr1:1216835 [GRCh37]
Chr1:1p36.33		 likely benign
NM_001130413.4(SCNN1D):c.1835C>T (p.Thr612Ile) single nucleotide variant not specified [RCV004674625] Chr1:1290531 [GRCh38]
Chr1:1225911 [GRCh37]
Chr1:1p36.33		 uncertain significance
NM_001130413.4(SCNN1D):c.525C>A (p.Pro175=) single nucleotide variant not provided [RCV003456624] Chr1:1285631 [GRCh38]
Chr1:1221011 [GRCh37]
Chr1:1p36.33		 likely benign
GRCh37/hg19 1p36.33(chr1:849466-1976788)x1 copy number loss not provided [RCV001260112] Chr1:849466..1976788 [GRCh37]
Chr1:1p36.33		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2999
Count of miRNA genes:834
Interacting mature miRNAs:1019
Transcripts:ENST00000325425, ENST00000338555, ENST00000379099, ENST00000379101, ENST00000379116, ENST00000400928, ENST00000467651, ENST00000470022
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298451OSTEAR17_HOsteoarthritis QTL 17 (human)2.40.0004Joint/bone inflammationosteoarthritis11125188105Human
407056144GWAS705120_Htelomere length QTL GWAS705120 (human)5e-08telomere length112906831290684Human
407115031GWAS764007_Hplatelet count QTL GWAS764007 (human)0.000003platelet quantity (VT:0003179)platelet count (CMO:0000029)112909321290933Human
1298463BP9_HBlood pressure QTL 9 (human)3.9Blood pressurehypertension susceptibility1125188105Human

Markers in Region
SHGC-74130  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711,226,808 - 1,226,987UniSTSGRCh37
Build 3611,216,671 - 1,216,850RGDNCBI36
Celera11,354,174 - 1,354,353RGD
Cytogenetic Map1p36.3-p36.2UniSTS
HuRef1498,014 - 498,193UniSTS
TNG Radiation Hybrid Map176246.0UniSTS
GeneMap99-GB4 RH Map115.89UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2432 2788 2242 4942 1723 2343 4 622 1929 464 2268 7265 6438 52 3708 847 1731 1610 170

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001130413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_037668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA617657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AA622685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL162741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC125074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC125075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU729671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX424308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ898175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ898176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ898177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU489064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U38254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000325425   ⟹   ENSP00000321594
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11,282,109 - 1,292,024 (+)Ensembl
Ensembl Acc Id: ENST00000338555   ⟹   ENSP00000339504
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11,280,588 - 1,292,024 (+)Ensembl
Ensembl Acc Id: ENST00000379099   ⟹   ENSP00000368393
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11,287,109 - 1,290,943 (+)Ensembl
Ensembl Acc Id: ENST00000379101   ⟹   ENSP00000449804
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11,280,472 - 1,291,373 (+)Ensembl
Ensembl Acc Id: ENST00000379116   ⟹   ENSP00000368411
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11,280,436 - 1,292,025 (+)Ensembl
Ensembl Acc Id: ENST00000400928   ⟹   ENSP00000383717
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11,281,224 - 1,292,029 (+)Ensembl
Ensembl Acc Id: ENST00000467651
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11,282,164 - 1,285,597 (+)Ensembl
Ensembl Acc Id: ENST00000470022   ⟹   ENSP00000420548
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11,281,925 - 1,286,168 (+)Ensembl
RefSeq Acc Id: NM_001130413   ⟹   NP_001123885
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811,280,436 - 1,292,025 (+)NCBI
GRCh3711,215,816 - 1,227,409 (+)ENTREZGENE
HuRef1487,469 - 498,615 (+)ENTREZGENE
CHM1_111,202,865 - 1,213,108 (+)NCBI
T2T-CHM13v2.01709,443 - 723,551 (+)NCBI
Sequence:
RefSeq Acc Id: NR_037668
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811,280,436 - 1,292,025 (+)NCBI
GRCh3711,215,816 - 1,227,409 (+)ENTREZGENE
HuRef1487,469 - 498,615 (+)ENTREZGENE
CHM1_111,202,865 - 1,213,108 (+)NCBI
T2T-CHM13v2.01709,443 - 723,551 (+)NCBI
Sequence:
RefSeq Acc Id: NP_001123885   ⟸   NM_001130413
- UniProtKB: Q5T7L3 (UniProtKB/Swiss-Prot),   Q09HT0 (UniProtKB/Swiss-Prot),   Q08AQ3 (UniProtKB/Swiss-Prot),   B3KSD7 (UniProtKB/Swiss-Prot),   B1PS44 (UniProtKB/Swiss-Prot),   A9Z1X6 (UniProtKB/Swiss-Prot),   Q8NA24 (UniProtKB/Swiss-Prot),   P51172 (UniProtKB/Swiss-Prot),   A6NNF7 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000383717   ⟸   ENST00000400928
Ensembl Acc Id: ENSP00000339504   ⟸   ENST00000338555
Ensembl Acc Id: ENSP00000321594   ⟸   ENST00000325425
Ensembl Acc Id: ENSP00000368393   ⟸   ENST00000379099
Ensembl Acc Id: ENSP00000449804   ⟸   ENST00000379101
Ensembl Acc Id: ENSP00000368411   ⟸   ENST00000379116
Ensembl Acc Id: ENSP00000420548   ⟸   ENST00000470022

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P51172-F1-model_v2 AlphaFold P51172 1-802 view protein structure

Promoters
RGD ID:6786802
Promoter ID:HG_KWN:147
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:ENST00000338555,   ENST00000379101,   NM_001130413,   NM_002978,   OTTHUMT00000005803,   UC001ADT.1,   UC001ADU.1,   UC001ADX.2
Position:
Human AssemblyChrPosition (strand)Source
Build 3611,206,911 - 1,207,411 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10601 AgrOrtholog
COSMIC SCNN1D COSMIC
Ensembl Genes ENSG00000162572 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000325425.12 UniProtKB/Swiss-Prot
  ENST00000338555.6 UniProtKB/Swiss-Prot
  ENST00000379099.3 UniProtKB/TrEMBL
  ENST00000379101.8 UniProtKB/TrEMBL
  ENST00000379116 ENTREZGENE
  ENST00000379116.10 UniProtKB/Swiss-Prot
  ENST00000400928 ENTREZGENE
  ENST00000400928.7 UniProtKB/Swiss-Prot
  ENST00000470022.1 UniProtKB/TrEMBL
Gene3D-CATH Acid-sensing ion channel domain UniProtKB/TrEMBL
  Acid-sensing ion channels like domains UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  YojJ-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000162572 GTEx
HGNC ID HGNC:10601 ENTREZGENE
Human Proteome Map SCNN1D Human Proteome Map
InterPro ENaC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENaC_chordates UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENaC_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6339 UniProtKB/Swiss-Prot
NCBI Gene 6339 ENTREZGENE
OMIM 601328 OMIM
PANTHER AMILORIDE-SENSITIVE SODIUM CHANNEL SUBUNIT DELTA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11690 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ASC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35011 PharmGKB
PRINTS AMINACHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ASC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A6NNF7 ENTREZGENE
  A9Z1X6 ENTREZGENE
  B1PS44 ENTREZGENE
  B3KSD7 ENTREZGENE
  C9JDY8_HUMAN UniProtKB/TrEMBL
  F8VWH5_HUMAN UniProtKB/TrEMBL
  H0Y3F1_HUMAN UniProtKB/TrEMBL
  I6L9J9_HUMAN UniProtKB/TrEMBL
  P51172 ENTREZGENE
  Q08AQ3 ENTREZGENE
  Q09HT0 ENTREZGENE
  Q09HT1_HUMAN UniProtKB/TrEMBL
  Q5T7L3 ENTREZGENE
  Q8NA24 ENTREZGENE
  SCNND_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A6NNF7 UniProtKB/Swiss-Prot
  A9Z1X6 UniProtKB/Swiss-Prot
  B1PS44 UniProtKB/Swiss-Prot
  B3KSD7 UniProtKB/Swiss-Prot
  Q08AQ3 UniProtKB/Swiss-Prot
  Q09HT0 UniProtKB/Swiss-Prot
  Q5T7L3 UniProtKB/Swiss-Prot
  Q8NA24 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-12-03 SCNN1D  sodium channel epithelial 1 subunit delta  SCNN1D  sodium channel epithelial 1 delta subunit  Symbol and/or name change 5135510 APPROVED
2016-02-10 SCNN1D  sodium channel epithelial 1 delta subunit    sodium channel, non voltage gated 1 delta subunit  Symbol and/or name change 5135510 APPROVED
2015-01-20 SCNN1D  sodium channel, non voltage gated 1 delta subunit    sodium channel, non-voltage-gated 1, delta subunit  Symbol and/or name change 5135510 APPROVED
2012-03-01 SCNN1D  sodium channel, non-voltage-gated 1, delta subunit  SCNN1D  sodium channel, nonvoltage-gated 1, delta  Symbol and/or name change 5135510 APPROVED