SMN1 (survival of motor neuron 1, telomeric) - Rat Genome Database

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Gene: SMN1 (survival of motor neuron 1, telomeric) Homo sapiens
Analyze
Symbol: SMN1
Name: survival of motor neuron 1, telomeric
RGD ID: 736439
HGNC Page HGNC
Description: Exhibits identical protein binding activity. Involved in DNA-templated transcription, termination; spliceosomal complex assembly; and spliceosomal snRNP assembly. Localizes to several cellular components, including SMN complex; nuclear body; and perikaryon. Implicated in Werdnig-Hoffmann disease; adult spinal muscular atrophy; intermediate spinal muscular atrophy; juvenile spinal muscular atrophy; and spinal muscular atrophy.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BCD541; component of gems 1; gemin 1; gemin-1; GEMIN1; SMA; SMA1; SMA2; SMA3; SMA4; SMA@; SMN; SMN2; SMNT; spinal muscular atrophy (Werdnig-Hoffmann disease, Kugelberg-Welander disease); survival motor neuron 1 protein; survival motor neuron protein; survival of motor neuron 1 isoform D2A2B345; survival of motor neuron 1 isoform D2A2B3457; survival of motor neuron 1 isoform D2A3457; survival of motor neuron 1 isoform D2B3457; survival of motor neuron 1 isoform D345; survival of motor neuron 1 isoform D3457; survival of motor neuron 1 isoform D347; T-BCD541; TDRD16A; tudor domain containing 16A
RGD Orthologs
Mouse
Rat
Dog
Pig
Alliance Genes
More Info more info ...
Related Pseudogenes: AL512635.1   LOC100132090  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl570,049,638 - 70,078,522 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl570,049,612 - 70,078,522 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl570,925,030 - 70,953,942 (+)EnsemblGRCh38hg38GRCh38
GRCh38570,924,941 - 70,953,015 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37570,220,768 - 70,248,842 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36570,256,524 - 70,284,593 (+)NCBINCBI36hg18NCBI36
Build 34570,256,523 - 70,284,593NCBI
Celera566,468,090 - 66,482,264 (-)NCBI
Cytogenetic Map5q13.2NCBI
HuRef565,881,629 - 65,882,701 (+)NCBIHuRef
CHM1_1569,671,936 - 69,700,004 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
axon  (IEA)
Cajal body  (IBA,IDA,IEA)
COPI-coated vesicle  (ISO)
cytoplasm  (IDA,IEA,ISO)
cytoplasmic ribonucleoprotein granule  (IDA)
cytosol  (IDA,TAS)
Gemini of coiled bodies  (IBA,IDA,ISO)
Golgi apparatus  (ISO)
growth cone  (ISO)
neuron projection  (IDA)
nuclear body  (IDA)
nucleolus  (ISO)
nucleoplasm  (IDA,TAS)
nucleus  (IBA,IDA,IEA)
perikaryon  (IDA)
SMN complex  (IBA,IDA)
SMN-Sm protein complex  (IDA)
Z disc  (IEA)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:7552146   PMID:7581461   PMID:7639755   PMID:8670859   PMID:8808598   PMID:8838816   PMID:8922999   PMID:9147655   PMID:9158159   PMID:9259265   PMID:9302277   PMID:9323129  
PMID:9389483   PMID:9503025   PMID:9600994   PMID:9818944   PMID:9837824   PMID:9845364   PMID:10205267   PMID:10339583   PMID:10369862   PMID:10369867   PMID:10601333   PMID:10725331  
PMID:10732802   PMID:10732817   PMID:10734235   PMID:10767334   PMID:10851237   PMID:11092763   PMID:11135666   PMID:11149922   PMID:11283611   PMID:11313744   PMID:11438536   PMID:11448987  
PMID:11509230   PMID:11522829   PMID:11551898   PMID:11574476   PMID:11641277   PMID:11704667   PMID:11713266   PMID:11714716   PMID:11720283   PMID:11748230   PMID:11773003   PMID:11791208  
PMID:11792806   PMID:11835381   PMID:11875052   PMID:11907229   PMID:11914277   PMID:11935338   PMID:11992267   PMID:11996521   PMID:12021369   PMID:12065586   PMID:12067652   PMID:12095920  
PMID:12192051   PMID:12221125   PMID:12244096   PMID:12361597   PMID:12374765   PMID:12459587   PMID:12477932   PMID:12657835   PMID:12663808   PMID:12668731   PMID:12679382   PMID:12878704  
PMID:12975319   PMID:14520560   PMID:14697339   PMID:14715275   PMID:14749338   PMID:14972554   PMID:15119481   PMID:15222879   PMID:15249625   PMID:15304326   PMID:15345747   PMID:15372022  
PMID:15459957   PMID:15489334   PMID:15494309   PMID:15526170   PMID:15580564   PMID:15608400   PMID:15726222   PMID:15832310   PMID:16087681   PMID:16093455   PMID:16118268   PMID:16169070  
PMID:16189514   PMID:16331551   PMID:16439605   PMID:16449646   PMID:16481599   PMID:16565220   PMID:16617248   PMID:16651888   PMID:16786553   PMID:16845275   PMID:16931506   PMID:16936383  
PMID:17023415   PMID:17049859   PMID:17068332   PMID:17081983   PMID:17218272   PMID:17250497   PMID:17250498   PMID:17392705   PMID:17415510   PMID:17475491   PMID:17585203   PMID:17592254  
PMID:17625510   PMID:17635841   PMID:17682539   PMID:17850955   PMID:17916631   PMID:18071605   PMID:18093976   PMID:18172693   PMID:18269687   PMID:18332255   PMID:18337729   PMID:18533950  
PMID:18546169   PMID:18624398   PMID:18633133   PMID:18651653   PMID:18703124   PMID:18752447   PMID:18974562   PMID:18984161   PMID:19050931   PMID:19103745   PMID:19134255   PMID:19154529  
PMID:19179398   PMID:19198020   PMID:19215052   PMID:19244360   PMID:19271042   PMID:19351384   PMID:19447967   PMID:19480685   PMID:19515850   PMID:19538222   PMID:19596235   PMID:19625283  
PMID:19628962   PMID:19648294   PMID:19735367   PMID:19922137   PMID:19928837   PMID:19997741   PMID:20090376   PMID:20188701   PMID:20197730   PMID:20301526   PMID:20373854   PMID:20442745  
PMID:20467437   PMID:20513430   PMID:20515750   PMID:20563565   PMID:20620147   PMID:20637152   PMID:20659551   PMID:20696395   PMID:20713032   PMID:20947812   PMID:21055263   PMID:21070772  
PMID:21072240   PMID:21082361   PMID:21145461   PMID:21172665   PMID:21209906   PMID:21233719   PMID:21300694   PMID:21333717   PMID:21335981   PMID:21338334   PMID:21364876   PMID:21462119  
PMID:21482919   PMID:21496457   PMID:21516116   PMID:21565611   PMID:21610747   PMID:21631299   PMID:21672919   PMID:21693563   PMID:21705024   PMID:21732698   PMID:21785216   PMID:21816274  
PMID:21826391   PMID:21873635   PMID:21900206   PMID:21920940   PMID:21924051   PMID:21956898   PMID:22085534   PMID:22101937   PMID:22124016   PMID:22161088   PMID:22190034   PMID:22197680  
PMID:22302308   PMID:22323753   PMID:22324632   PMID:22363433   PMID:22365833   PMID:22454514   PMID:22607171   PMID:22669976   PMID:22824686   PMID:22884440   PMID:22939629   PMID:22990118  
PMID:22994313   PMID:23022347   PMID:23112048   PMID:23136128   PMID:23185376   PMID:23221635   PMID:23246001   PMID:23301033   PMID:23315303   PMID:23398456   PMID:23438482   PMID:23455924  
PMID:23477310   PMID:23496866   PMID:23615451   PMID:23727837   PMID:23752268   PMID:23788250   PMID:23799925   PMID:24085424   PMID:24237934   PMID:24357717   PMID:24362020   PMID:24413165  
PMID:24457600   PMID:24515897   PMID:24551192   PMID:24563475   PMID:24630593   PMID:24711022   PMID:24736615   PMID:24751385   PMID:24760765   PMID:24777337   PMID:24844453   PMID:24909772  
PMID:24923560   PMID:24981860   PMID:25014214   PMID:25264200   PMID:25315684   PMID:25416956   PMID:25486782   PMID:25737013   PMID:25888055   PMID:25911097   PMID:26092730   PMID:26114395  
PMID:26186194   PMID:26214005   PMID:26264872   PMID:26275778   PMID:26419278   PMID:26496610   PMID:26573968   PMID:26606804   PMID:26607476   PMID:26665550   PMID:26673895   PMID:26700805  
PMID:26724723   PMID:26743087   PMID:26828962   PMID:26871637   PMID:26908606   PMID:26908624   PMID:26972000   PMID:27107014   PMID:27114546   PMID:27241020   PMID:27260405   PMID:27422779  
PMID:27432908   PMID:27466204   PMID:27481219   PMID:27510309   PMID:27557711   PMID:27577201   PMID:27754957   PMID:28017471   PMID:28214532   PMID:28258160   PMID:28270613   PMID:28302793  
PMID:28328128   PMID:28330616   PMID:28366534   PMID:28514442   PMID:28570645   PMID:28650318   PMID:28852871   PMID:28950212   PMID:28977470   PMID:28981879   PMID:28981927   PMID:29049376  
PMID:29080838   PMID:29128334   PMID:29167380   PMID:29209912   PMID:29292768   PMID:29313812   PMID:29395067   PMID:29478602   PMID:29509190   PMID:29537490   PMID:29580671   PMID:29656893  
PMID:29672276   PMID:29790918   PMID:29799103   PMID:29884807   PMID:29904179   PMID:29911972   PMID:29997244   PMID:30098235   PMID:30165668   PMID:30177828   PMID:30565205   PMID:30585266  
PMID:30698797   PMID:30907347   PMID:31138677   PMID:31339938   PMID:31527615   PMID:31551363   PMID:31586073   PMID:31796584   PMID:31900314   PMID:31980649   PMID:32062451   PMID:32067433  
PMID:32129710   PMID:32169315   PMID:32181591   PMID:32203420   PMID:32219818   PMID:32296183   PMID:32392694   PMID:32659294   PMID:32814053   PMID:32843442   PMID:33190150   PMID:33440839  
PMID:33462199   PMID:33724218  


Genomics

Comparative Map Data
SMN1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl570,049,638 - 70,078,522 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl570,049,612 - 70,078,522 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl570,925,030 - 70,953,942 (+)EnsemblGRCh38hg38GRCh38
GRCh38570,924,941 - 70,953,015 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37570,220,768 - 70,248,842 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36570,256,524 - 70,284,593 (+)NCBINCBI36hg18NCBI36
Build 34570,256,523 - 70,284,593NCBI
Celera566,468,090 - 66,482,264 (-)NCBI
Cytogenetic Map5q13.2NCBI
HuRef565,881,629 - 65,882,701 (+)NCBIHuRef
CHM1_1569,671,936 - 69,700,004 (+)NCBICHM1_1
Smn1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3913100,259,713 - 100,274,206 (+)NCBIGRCm39mm39
GRCm39 Ensembl13100,261,360 - 100,274,198 (+)Ensembl
GRCm3813100,123,205 - 100,137,699 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl13100,124,852 - 100,137,690 (+)EnsemblGRCm38mm10GRCm38
MGSCv3713100,894,810 - 100,907,653 (+)NCBIGRCm37mm9NCBIm37
MGSCv3613101,225,151 - 101,237,950 (+)NCBImm8
Celera13103,778,421 - 103,791,262 (+)NCBICelera
Cytogenetic Map13D1NCBI
cM Map1352.99NCBI
Smn1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2231,490,018 - 31,501,065 (+)NCBI
Rnor_6.0 Ensembl230,360,100 - 30,371,147 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0230,360,101 - 30,371,147 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0249,519,268 - 49,530,314 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4231,147,743 - 31,159,938 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1231,068,111 - 31,080,302 (+)NCBI
Celera227,512,249 - 27,523,295 (+)NCBICelera
Cytogenetic Map2q12NCBI
SMN
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1254,596,000 - 54,636,837 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl254,596,008 - 54,636,804 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha251,562,487 - 51,603,251 (-)NCBI
ROS_Cfam_1.0255,108,518 - 55,150,113 (-)NCBI
UMICH_Zoey_3.1252,172,181 - 52,212,912 (-)NCBI
UNSW_CanFamBas_1.0252,939,094 - 52,979,825 (-)NCBI
UU_Cfam_GSD_1.0253,829,855 - 53,871,089 (-)NCBI
SMN1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.11647,738,776 - 47,777,381 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21651,686,212 - 51,724,263 (-)NCBISscrofa10.2Sscrofa10.2susScr3

Position Markers
STS-U18423  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37570,248,479 - 70,248,741UniSTSGRCh37
GRCh37569,373,059 - 69,373,321UniSTSGRCh37
Build 36569,408,815 - 69,409,077RGDNCBI36
Celera566,468,188 - 66,468,450RGD
Cytogenetic Map5q13.2UniSTS
HuRef565,882,341 - 65,882,603UniSTS
GeneMap99-GB4 RH Map5355.45UniSTS
D5S1556  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37570,220,402 - 70,220,507UniSTSGRCh37
GRCh37569,344,988 - 69,345,089UniSTSGRCh37
Build 36569,380,744 - 69,380,845RGDNCBI36
Cytogenetic Map5q13.2UniSTS
HuRef565,852,053 - 65,852,166UniSTS
D5F150S1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37569,344,898 - 69,345,106UniSTSGRCh37
Build 36569,380,654 - 69,380,862RGDNCBI36
Cytogenetic Map5q13.2UniSTS
HuRef565,851,963 - 65,852,183UniSTS
D5F151S1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37570,241,374 - 70,241,496UniSTSGRCh37
GRCh37569,365,951 - 69,366,071UniSTSGRCh37
Build 36569,401,707 - 69,401,827RGDNCBI36
Celera566,475,432 - 66,475,552RGD
Cytogenetic Map5q13.2UniSTS
G20836  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37570,248,633 - 70,248,755UniSTSGRCh37
GRCh37569,373,213 - 69,373,335UniSTSGRCh37
Build 36569,408,969 - 69,409,091RGDNCBI36
Celera566,468,174 - 66,468,296RGD
Cytogenetic Map5q13.2UniSTS
HuRef565,882,495 - 65,882,617UniSTS
A006I11  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37570,248,633 - 70,248,755UniSTSGRCh37
GRCh37569,373,213 - 69,373,335UniSTSGRCh37
Build 36569,408,969 - 69,409,091RGDNCBI36
Celera566,468,174 - 66,468,296RGD
Cytogenetic Map5q13.2UniSTS
HuRef565,882,495 - 65,882,617UniSTS
GeneMap99-GB4 RH Map5346.97UniSTS
SMN1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37570,238,219 - 70,238,351UniSTSGRCh37
GRCh37569,362,795 - 69,362,927UniSTSGRCh37
Build 36569,398,551 - 69,398,683RGDNCBI36
Celera566,478,575 - 66,478,707RGD
D5S2797  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37570,247,611 - 70,247,812UniSTSGRCh37
GRCh37569,372,191 - 69,372,392UniSTSGRCh37
Build 36569,407,947 - 69,408,148RGDNCBI36
Celera566,469,117 - 66,469,318RGD
HuRef565,881,473 - 65,881,674UniSTS
D5S2798  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37570,248,433 - 70,248,621UniSTSGRCh37
GRCh37569,373,013 - 69,373,201UniSTSGRCh37
Build 36569,408,769 - 69,408,957RGDNCBI36
Celera566,468,308 - 66,468,496RGD
Cytogenetic Map5q13.2UniSTS
HuRef565,882,295 - 65,882,483UniSTS
D5S2463  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37570,248,594 - 70,248,775UniSTSGRCh37
GRCh37569,373,174 - 69,373,355UniSTSGRCh37
Build 36569,408,930 - 69,409,111RGDNCBI36
Celera566,468,154 - 66,468,335RGD
Cytogenetic Map5q13.2UniSTS
HuRef565,882,456 - 65,882,637UniSTS
GeneMap99-GB4 RH Map5358.96UniSTS
Whitehead-YAC Contig Map5 UniSTS
D5S1946  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37570,248,662 - 70,248,775UniSTSGRCh37
GRCh37569,373,242 - 69,373,355UniSTSGRCh37
Build 36569,408,998 - 69,409,111RGDNCBI36
Celera566,468,154 - 66,468,267RGD
Cytogenetic Map5q13.2UniSTS
HuRef565,882,524 - 65,882,637UniSTS
GeneMap99-GB4 RH Map5354.7UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1256
Count of miRNA genes:520
Interacting mature miRNAs:551
Transcripts:ENST00000351205, ENST00000380707, ENST00000503079, ENST00000506163, ENST00000506239, ENST00000507905, ENST00000510679, ENST00000513228, ENST00000514951, ENST00000518504
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.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage
High
Medium 6 7 29 1 2 1 29 3 38 1 77 31 7 26
Low 4194 4815 2685 727 1576 427 7669 3911 6652 202 2060 2323 300 2289 5259
Below cutoff 209 1032 117 45 751 23 380 313 364 17 83 103 22 104 267

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001297715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC005031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC044797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC139494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC139834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC244260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF092925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF187725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF189367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH006635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC062723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU226659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU226660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU226661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ657798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ657799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ657800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ657801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ657802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ657803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ690867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ690868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ732166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ745297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH001580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH001581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH001582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH001583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH001584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH001585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH001586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH500424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH500431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH500433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH500435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH500447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH500448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH500449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH500450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH500453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH500454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH500456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH500457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH500459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH500461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH500475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH500476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH500480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH500481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH500487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH500502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH500503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH500504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH500506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH500507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH500512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH500532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH500534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH500535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK131042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK131046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK313130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U18423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U80017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000351205   ⟹   ENSP00000305857
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl570,925,104 - 70,952,006 (+)Ensembl
RefSeq Acc Id: ENST00000380707   ⟹   ENSP00000370083
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl570,925,030 - 70,953,012 (+)Ensembl
RefSeq Acc Id: ENST00000503079   ⟹   ENSP00000428128
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl570,925,030 - 70,952,347 (+)Ensembl
RefSeq Acc Id: ENST00000506163   ⟹   ENSP00000424926
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl570,925,095 - 70,953,040 (+)Ensembl
RefSeq Acc Id: ENST00000506239   ⟹   ENSP00000422679
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl570,925,075 - 70,953,016 (+)Ensembl
RefSeq Acc Id: ENST00000507905   ⟹   ENSP00000430657
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl570,942,508 - 70,946,079 (+)Ensembl
RefSeq Acc Id: ENST00000510679
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl570,946,089 - 70,953,942 (+)Ensembl
RefSeq Acc Id: ENST00000513228
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl570,942,518 - 70,946,274 (+)Ensembl
RefSeq Acc Id: ENST00000514951   ⟹   ENSP00000423298
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl570,925,056 - 70,952,567 (+)Ensembl
RefSeq Acc Id: ENST00000518504
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl570,942,472 - 70,946,278 (+)Ensembl
RefSeq Acc Id: ENST00000625245   ⟹   ENSP00000486539
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl570,925,104 - 70,946,757 (+)Ensembl
RefSeq Acc Id: NM_000344   ⟹   NP_000335
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38570,925,087 - 70,953,015 (+)NCBI
GRCh37570,220,768 - 70,248,839 (+)ENTREZGENE
GRCh37570,220,768 - 70,248,839 (+)NCBI
Build 36570,256,524 - 70,284,593 (+)NCBI Archive
HuRef565,881,629 - 65,882,701 (+)ENTREZGENE
CHM1_1569,671,936 - 69,700,004 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001297715   ⟹   NP_001284644
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38570,924,941 - 70,953,012 (+)NCBI
CHM1_1569,671,936 - 69,700,004 (+)NCBI
Sequence:
RefSeq Acc Id: NM_022874   ⟹   NP_075012
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38570,924,941 - 70,953,012 (+)NCBI
GRCh37570,220,768 - 70,248,839 (+)ENTREZGENE
GRCh37570,220,768 - 70,248,839 (+)NCBI
Build 36570,256,524 - 70,284,593 (+)NCBI Archive
HuRef565,881,629 - 65,882,701 (+)ENTREZGENE
CHM1_1569,671,936 - 69,700,004 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011543596   ⟹   XP_011541898
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38570,925,062 - 70,946,924 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011543597   ⟹   XP_011541899
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38570,925,056 - 70,953,015 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011543598   ⟹   XP_011541900
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38570,925,044 - 70,953,015 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017009786   ⟹   XP_016865275
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38570,925,062 - 70,953,015 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000335 (Get FASTA)   NCBI Sequence Viewer  
  NP_001284644 (Get FASTA)   NCBI Sequence Viewer  
  NP_075012 (Get FASTA)   NCBI Sequence Viewer  
  XP_011541898 (Get FASTA)   NCBI Sequence Viewer  
  XP_011541899 (Get FASTA)   NCBI Sequence Viewer  
  XP_011541900 (Get FASTA)   NCBI Sequence Viewer  
  XP_016865275 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA66242 (Get FASTA)   NCBI Sequence Viewer  
  AAC52048 (Get FASTA)   NCBI Sequence Viewer  
  AAC62262 (Get FASTA)   NCBI Sequence Viewer  
  AAD37484 (Get FASTA)   NCBI Sequence Viewer  
  AAH62723 (Get FASTA)   NCBI Sequence Viewer  
  AFJ92633 (Get FASTA)   NCBI Sequence Viewer  
  AFJ92634 (Get FASTA)   NCBI Sequence Viewer  
  AFK09761 (Get FASTA)   NCBI Sequence Viewer  
  AFK09762 (Get FASTA)   NCBI Sequence Viewer  
  AFK09763 (Get FASTA)   NCBI Sequence Viewer  
  AFK09764 (Get FASTA)   NCBI Sequence Viewer  
  AFK09765 (Get FASTA)   NCBI Sequence Viewer  
  AFK09766 (Get FASTA)   NCBI Sequence Viewer  
  AFM22704 (Get FASTA)   NCBI Sequence Viewer  
  AFM68922 (Get FASTA)   NCBI Sequence Viewer  
  AZB48663 (Get FASTA)   NCBI Sequence Viewer  
  AZB48664 (Get FASTA)   NCBI Sequence Viewer  
  AZB48665 (Get FASTA)   NCBI Sequence Viewer  
  AZB48666 (Get FASTA)   NCBI Sequence Viewer  
  AZB48667 (Get FASTA)   NCBI Sequence Viewer  
  AZB48668 (Get FASTA)   NCBI Sequence Viewer  
  AZB48669 (Get FASTA)   NCBI Sequence Viewer  
  BAG60473 (Get FASTA)   NCBI Sequence Viewer  
  Q16637 (Get FASTA)   NCBI Sequence Viewer  
  QAY30723 (Get FASTA)   NCBI Sequence Viewer  
  QAY30724 (Get FASTA)   NCBI Sequence Viewer  
  QAY30725 (Get FASTA)   NCBI Sequence Viewer  
  QAY30726 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_075012   ⟸   NM_022874
- Peptide Label: isoform b
- UniProtKB: Q16637 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_000335   ⟸   NM_000344
- Peptide Label: isoform d
- UniProtKB: Q16637 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001284644   ⟸   NM_001297715
- Peptide Label: isoform a
- UniProtKB: Q16637 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011541900   ⟸   XM_011543598
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011541899   ⟸   XM_011543597
- Peptide Label: isoform X3
- UniProtKB: B4DP61 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011541898   ⟸   XM_011543596
- Peptide Label: isoform X1
- UniProtKB: E7EQZ4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016865275   ⟸   XM_017009786
- Peptide Label: isoform X2
- UniProtKB: Q16637 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000428128   ⟸   ENST00000503079
RefSeq Acc Id: ENSP00000424926   ⟸   ENST00000506163
RefSeq Acc Id: ENSP00000422679   ⟸   ENST00000506239
RefSeq Acc Id: ENSP00000486539   ⟸   ENST00000625245
RefSeq Acc Id: ENSP00000430657   ⟸   ENST00000507905
RefSeq Acc Id: ENSP00000305857   ⟸   ENST00000351205
RefSeq Acc Id: ENSP00000370083   ⟸   ENST00000380707
RefSeq Acc Id: ENSP00000423298   ⟸   ENST00000514951
Protein Domains
SMN   Tudor

Promoters
RGD ID:6869826
Promoter ID:EPDNEW_H8078
Type:initiation region
Name:SMN1_1
Description:survival of motor neuron 1, telomeric
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38570,925,087 - 70,925,147EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000344.3(SMN1):c.419A>T (p.Asp140Val) single nucleotide variant Spinal muscular atrophy [RCV000797472]|not provided [RCV000785809]|not specified [RCV000516973] Chr5:70942503 [GRCh38]
Chr5:70238330 [GRCh37]
Chr5:5q13.2
pathogenic|uncertain significance
NC_000005.10:g.(?_70951921)_(70952011_?)del deletion Spinal muscular atrophy [RCV000554972] Chr5:70951921..70952011 [GRCh38]
Chr5:5q13.2
pathogenic
NM_000344.3(SMN1):c.683T>A (p.Leu228Ter) single nucleotide variant not provided [RCV000516476] Chr5:70944713 [GRCh38]
Chr5:70240540 [GRCh37]
Chr5:5q13.2
pathogenic
NM_000344.3(SMN1):c.93_96dup (p.Ile33Ter) duplication not provided [RCV000516576] Chr5:70938848..70938849 [GRCh38]
Chr5:70234675..70234676 [GRCh37]
Chr5:5q13.2
pathogenic|likely pathogenic
NM_000344.3(SMN1):c.389A>G (p.Tyr130Cys) single nucleotide variant Kugelberg-Welander disease [RCV000032708] Chr5:70942473 [GRCh38]
Chr5:70238300 [GRCh37]
Chr5:5q13.2
pathogenic
NM_000344.3(SMN1):c.388T>C (p.Tyr130His) single nucleotide variant Kugelberg-Welander disease [RCV000032709] Chr5:70942472 [GRCh38]
Chr5:70238299 [GRCh37]
Chr5:5q13.2
pathogenic
SMN1, DEL deletion Kugelberg-Welander disease [RCV000032710] Chr5:5q12.2-q13.3 pathogenic
SMN1, 11-BP DUP, 801-811 duplication Werdnig-Hoffmann disease [RCV000009733] Chr5:5q12.2-q13.3 pathogenic
NM_000344.3(SMN1):c.821C>T (p.Thr274Ile) single nucleotide variant Kugelberg-Welander disease [RCV000009735]|Spinal muscular atrophy, type II [RCV000009734]|not provided [RCV000517430] Chr5:70946163 [GRCh38]
Chr5:70241990 [GRCh37]
Chr5:5q13.2
pathogenic|conflicting interpretations of pathogenicity
NM_000344.3(SMN1):c.785G>T (p.Ser262Ile) single nucleotide variant Kugelberg-Welander disease [RCV000009736]|not provided [RCV000713373] Chr5:70946127 [GRCh38]
Chr5:70241954 [GRCh37]
Chr5:5q13.2
pathogenic|likely pathogenic
NM_000344.3(SMN1):c.815A>G (p.Tyr272Cys) single nucleotide variant Werdnig-Hoffmann disease [RCV000009737]|not provided [RCV000518253] Chr5:70946157 [GRCh38]
Chr5:70241984 [GRCh37]
Chr5:5q13.2
pathogenic|likely pathogenic
NM_001297715.1(SMN1):c.835-497G>T single nucleotide variant Werdnig-Hoffmann disease [RCV000009738] Chr5:70951942 [GRCh38]
Chr5:70247769 [GRCh37]
Chr5:5q13.2
pathogenic
NM_000344.3(SMN1):c.5C>G (p.Ala2Gly) single nucleotide variant Kugelberg-Welander disease [RCV000009740]|Spinal muscular atrophy, type II [RCV000009739]|not provided [RCV000517884] Chr5:70925108 [GRCh38]
Chr5:70220935 [GRCh37]
Chr5:5q13.2
pathogenic
SMN1, EX8DEL deletion Kugelberg-Welander disease [RCV000009742]|Spinal muscular atrophy, type II [RCV000009741] Chr5:5q12.2-q13.3 pathogenic
SMN1, IVS7DS, T-G, +6 single nucleotide variant Kugelberg-Welander disease [RCV000009743] Chr5:5q12.2-q13.3 pathogenic
SMN1, 5-BP DEL, 425 deletion Werdnig-Hoffmann disease [RCV000009744] Chr5:5q12.2-q13.3 pathogenic
NM_000344.3(SMN1):c.131A>T (p.Asp44Val) single nucleotide variant Kugelberg-Welander disease [RCV000009745] Chr5:70938888 [GRCh38]
Chr5:70234715 [GRCh37]
Chr5:5q13.2
pathogenic
NM_000344.3(SMN1):c.305G>A (p.Trp102Ter) single nucleotide variant Kugelberg-Welander disease [RCV000009747]|Spinal muscular atrophy, type II [RCV000009746]|not provided [RCV000785813] Chr5:70942389 [GRCh38]
Chr5:70238216 [GRCh37]
Chr5:5q13.2
pathogenic
SMN1, 4-BP DEL, 399AGAG deletion Werdnig-Hoffmann disease [RCV000009748]|Spinal muscular atrophy, type II [RCV000009749]|Kugelberg-Welander disease [RCV000009750]|Spinal muscular atrophy type 4 [RCV000009751] Chr5:5q12.2-q13.3 pathogenic
NM_000344.3(SMN1):c.88G>A (p.Asp30Asn) single nucleotide variant Spinal muscular atrophy, type II [RCV000009752] Chr5:70938845 [GRCh38]
Chr5:70234672 [GRCh37]
Chr5:5q13.2
pathogenic
NM_000344.3(SMN1):c.283G>C (p.Gly95Arg) single nucleotide variant Kugelberg-Welander disease [RCV000009753]|not provided [RCV000785814] Chr5:70942367 [GRCh38]
Chr5:70238194 [GRCh37]
Chr5:5q13.2
pathogenic
NM_000344.3(SMN1):c.332C>G (p.Ala111Gly) single nucleotide variant Spinal muscular atrophy, type II [RCV000009755]|Werdnig-Hoffmann disease [RCV000009754]|not provided [RCV000785810] Chr5:70942416 [GRCh38]
Chr5:70238243 [GRCh37]
Chr5:5q13.2
pathogenic
NM_000344.3(SMN1):c.784A>G (p.Ser262Gly) single nucleotide variant Kugelberg-Welander disease [RCV000009756] Chr5:70946126 [GRCh38]
Chr5:70241953 [GRCh37]
Chr5:5q13.2
pathogenic
NM_000344.3(SMN1):c.346A>T (p.Ile116Phe) single nucleotide variant Werdnig-Hoffmann disease [RCV000009757] Chr5:70942430 [GRCh38]
Chr5:70238257 [GRCh37]
Chr5:5q13.2
pathogenic
NM_000344.3(SMN1):c.406C>G (p.Gln136Glu) single nucleotide variant Werdnig-Hoffmann disease [RCV000009758] Chr5:70942490 [GRCh38]
Chr5:70238317 [GRCh37]
Chr5:5q13.2
pathogenic
GRCh38/hg38 5q13.2(chr5:69942850-70951975)x3 copy number gain See cases [RCV000133906] Chr5:69942850..70951975 [GRCh38]
Chr5:69238677..70247802 [GRCh37]
Chr5:69274433..70283558 [NCBI36]
Chr5:5q13.2
benign
GRCh38/hg38 5q13.2(chr5:69942850-70951975)x1 copy number loss See cases [RCV000133907] Chr5:69942850..70951975 [GRCh38]
Chr5:69238677..70247802 [GRCh37]
Chr5:69274433..70283558 [NCBI36]
Chr5:5q13.2
benign
NM_000344.3(SMN1):c.818A>T (p.His273Leu) single nucleotide variant not provided [RCV000785806]|not specified [RCV000516182] Chr5:70946160 [GRCh38]
Chr5:70241987 [GRCh37]
Chr5:5q13.2
likely pathogenic|uncertain significance
NM_000344.3(SMN1):c.135dup (p.Ala46fs) duplication not provided [RCV000516388] Chr5:70938889..70938890 [GRCh38]
Chr5:70234716..70234717 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_000344.3(SMN1):c.84C>T (p.Ser28=) single nucleotide variant not provided [RCV000518335] Chr5:70938841 [GRCh38]
Chr5:70234668 [GRCh37]
Chr5:5q13.2
benign
GRCh38/hg38 5q13.2(chr5:69942850-71291191)x1 copy number loss See cases [RCV000050307] Chr5:69942850..71291191 [GRCh38]
Chr5:69238677..70587018 [GRCh37]
Chr5:69274433..70622774 [NCBI36]
Chr5:5q13.2
benign
GRCh38/hg38 5q13.2(chr5:70436365-71291191)x1 copy number loss See cases [RCV000050267] Chr5:70436365..71291191 [GRCh38]
Chr5:69732192..70587018 [GRCh37]
Chr5:69767948..70622774 [NCBI36]
Chr5:5q13.2
benign
GRCh38/hg38 5q13.2(chr5:70436365-71090773)x3 copy number gain See cases [RCV000050949] Chr5:70436365..71090773 [GRCh38]
Chr5:69732192..70386600 [GRCh37]
Chr5:69767948..70422356 [NCBI36]
Chr5:5q13.2
benign
GRCh38/hg38 5q13.2(chr5:70436365-71090773)x1 copy number loss See cases [RCV000050950] Chr5:70436365..71090773 [GRCh38]
Chr5:69732192..70386600 [GRCh37]
Chr5:69767948..70422356 [NCBI36]
Chr5:5q13.2
benign
GRCh38/hg38 5q13.2(chr5:70436365-71420835)x1 copy number loss See cases [RCV000050656] Chr5:70436365..71420835 [GRCh38]
Chr5:69732192..70716662 [GRCh37]
Chr5:69767948..70752418 [NCBI36]
Chr5:5q13.2
benign
GRCh38/hg38 5q13.2(chr5:69942850-71014028)x1 copy number loss See cases [RCV000051033] Chr5:69942850..71014028 [GRCh38]
Chr5:69238677..70309855 [GRCh37]
Chr5:69274433..70345611 [NCBI36]
Chr5:5q13.2
benign
GRCh38/hg38 5q13.2(chr5:70436365-71014028)x1 copy number loss See cases [RCV000051004] Chr5:70436365..71014028 [GRCh38]
Chr5:69732192..70309855 [GRCh37]
Chr5:69767948..70345611 [NCBI36]
Chr5:5q13.2
benign
GRCh38/hg38 5q13.2(chr5:70547802-71291191)x1 copy number loss See cases [RCV000133882] Chr5:70547802..71291191 [GRCh38]
Chr5:69843629..70587018 [GRCh37]
Chr5:69879385..70622774 [NCBI36]
Chr5:5q13.2
benign
GRCh38/hg38 5q13.2(chr5:70436365-71291191)x3 copy number gain See cases [RCV000133630] Chr5:70436365..71291191 [GRCh38]
Chr5:69732192..70587018 [GRCh37]
Chr5:69767948..70622774 [NCBI36]
Chr5:5q13.2
benign
GRCh38/hg38 5q13.2(chr5:69942850-71090773)x3 copy number gain See cases [RCV000133739] Chr5:69942850..71090773 [GRCh38]
Chr5:69238677..70386600 [GRCh37]
Chr5:69274433..70422356 [NCBI36]
Chr5:5q13.2
benign
GRCh38/hg38 5q13.2(chr5:69942850-71090773)x1 copy number loss See cases [RCV000133740] Chr5:69942850..71090773 [GRCh38]
Chr5:69238677..70386600 [GRCh37]
Chr5:69274433..70422356 [NCBI36]
Chr5:5q13.2
benign
GRCh38/hg38 5q13.2(chr5:69942850-71291191)x3 copy number gain See cases [RCV000133668] Chr5:69942850..71291191 [GRCh38]
Chr5:69238677..70587018 [GRCh37]
Chr5:69274433..70622774 [NCBI36]
Chr5:5q13.2
benign
GRCh38/hg38 5q13.2(chr5:69942862-71291192)x1 copy number loss See cases [RCV000134722] Chr5:69942862..71291192 [GRCh38]
Chr5:69238689..70587019 [GRCh37]
Chr5:69274445..70622775 [NCBI36]
Chr5:5q13.2
benign|likely benign|conflicting data from submitters
GRCh38/hg38 5q13.2(chr5:70547824-71291192)x1 copy number loss See cases [RCV000134735] Chr5:70547824..71291192 [GRCh38]
Chr5:69843651..70587019 [GRCh37]
Chr5:69879407..70622775 [NCBI36]
Chr5:5q13.2
benign
GRCh38/hg38 5q13.2(chr5:69640103-71317302)x1 copy number loss See cases [RCV000134042] Chr5:69640103..71317302 [GRCh38]
Chr5:68935930..70613129 [GRCh37]
Chr5:68971686..70648885 [NCBI36]
Chr5:5q13.2
benign
GRCh38/hg38 5q13.2(chr5:70547802-71090773)x3 copy number gain See cases [RCV000133949] Chr5:70547802..71090773 [GRCh38]
Chr5:69843629..70386600 [GRCh37]
Chr5:69879385..70422356 [NCBI36]
Chr5:5q13.2
benign
GRCh38/hg38 5q13.2(chr5:69942862-71032915)x3 copy number gain See cases [RCV000134133] Chr5:69942862..71032915 [GRCh38]
Chr5:69238689..70328742 [GRCh37]
Chr5:69274445..70364498 [NCBI36]
Chr5:5q13.2
benign
GRCh38/hg38 5q13.2(chr5:70076645-71291191)x3 copy number gain See cases [RCV000133989] Chr5:70076645..71291191 [GRCh38]
Chr5:69372472..70587018 [GRCh37]
Chr5:69408228..70622774 [NCBI36]
Chr5:5q13.2
benign
GRCh38/hg38 5q13.2(chr5:69942850-71032915)x3 copy number gain See cases [RCV000133993] Chr5:69942850..71032915 [GRCh38]
Chr5:69238677..70328742 [GRCh37]
Chr5:69274433..70364498 [NCBI36]
Chr5:5q13.2
benign
GRCh38/hg38 5q13.2(chr5:69942850-71032915)x1 copy number loss See cases [RCV000133994] Chr5:69942850..71032915 [GRCh38]
Chr5:69238677..70328742 [GRCh37]
Chr5:69274433..70364498 [NCBI36]
Chr5:5q13.2
benign
GRCh38/hg38 5q13.2(chr5:69942862-71090767)x1 copy number loss See cases [RCV000134781] Chr5:69942862..71090767 [GRCh38]
Chr5:69238689..70386594 [GRCh37]
Chr5:69274445..70422350 [NCBI36]
Chr5:5q13.2
benign
GRCh38/hg38 5q13.2(chr5:70076623-71032915)x1 copy number loss See cases [RCV000134788] Chr5:70076623..71032915 [GRCh38]
Chr5:69372450..70328742 [GRCh37]
Chr5:69408206..70364498 [NCBI36]
Chr5:5q13.2
benign
GRCh38/hg38 5q13.2(chr5:69942862-70952001)x1 copy number loss See cases [RCV000134821] Chr5:69942862..70952001 [GRCh38]
Chr5:69238689..70247828 [GRCh37]
Chr5:69274445..70283584 [NCBI36]
Chr5:5q13.2
benign
GRCh38/hg38 5q12.1-13.2(chr5:63207112-71291191)x3 copy number gain See cases [RCV000135640] Chr5:63207112..71291191 [GRCh38]
Chr5:62502939..70587018 [GRCh37]
Chr5:62538695..70622774 [NCBI36]
Chr5:5q12.1-13.2
likely pathogenic
GRCh38/hg38 5q13.2(chr5:70130451-71013999)x1 copy number loss See cases [RCV000136221] Chr5:70130451..71013999 [GRCh38]
Chr5:69426278..70309826 [GRCh37]
Chr5:69462034..70345582 [NCBI36]
Chr5:5q13.2
benign
GRCh38/hg38 5q13.2(chr5:70436335-71291192)x3 copy number gain See cases [RCV000136109] Chr5:70436335..71291192 [GRCh38]
Chr5:69732162..70587019 [GRCh37]
Chr5:69767918..70622775 [NCBI36]
Chr5:5q13.2
benign
GRCh38/hg38 5q13.2(chr5:70409765-71090744)x3 copy number gain See cases [RCV000136178] Chr5:70409765..71090744 [GRCh38]
Chr5:69705592..70386571 [GRCh37]
Chr5:69741348..70422327 [NCBI36]
Chr5:5q13.2
benign
GRCh38/hg38 5q13.2(chr5:70076623-71291192)x1 copy number loss See cases [RCV000135980] Chr5:70076623..71291192 [GRCh38]
Chr5:69372450..70587019 [GRCh37]
Chr5:69408206..70622775 [NCBI36]
Chr5:5q13.2
benign
GRCh38/hg38 5q13.2(chr5:70436335-71090767)x3 copy number gain See cases [RCV000138779] Chr5:70436335..71090767 [GRCh38]
Chr5:69732162..70386594 [GRCh37]
Chr5:69767918..70422350 [NCBI36]
Chr5:5q13.2
benign
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3
pathogenic
GRCh38/hg38 5q13.2(chr5:69568368-71317498)x1 copy number loss See cases [RCV000139062] Chr5:69568368..71317498 [GRCh38]
Chr5:68864195..70613325 [GRCh37]
Chr5:68899951..70649081 [NCBI36]
Chr5:5q13.2
likely benign
GRCh38/hg38 5q13.2(chr5:70076623-71090767)x3 copy number gain See cases [RCV000138930] Chr5:70076623..71090767 [GRCh38]
Chr5:69372450..70386594 [GRCh37]
Chr5:69408206..70422350 [NCBI36]
Chr5:5q13.2
benign
GRCh38/hg38 5q13.2(chr5:70951942-71291192)x1 copy number loss See cases [RCV000139741] Chr5:70951942..71291192 [GRCh38]
Chr5:70247769..70587019 [GRCh37]
Chr5:70283525..70622775 [NCBI36]
Chr5:5q13.2
benign|likely benign|conflicting data from submitters
GRCh38/hg38 5q13.2(chr5:69553776-71317498)x1 copy number loss See cases [RCV000139478] Chr5:69553776..71317498 [GRCh38]
Chr5:68849603..70613325 [GRCh37]
Chr5:68885359..70649081 [NCBI36]
Chr5:5q13.2
benign
GRCh38/hg38 5q13.2(chr5:69495443-71032915)x1 copy number loss See cases [RCV000139586] Chr5:69495443..71032915 [GRCh38]
Chr5:68791270..70328742 [GRCh37]
Chr5:68827026..70364498 [NCBI36]
Chr5:5q13.2
benign
GRCh38/hg38 5q13.2(chr5:70076645-71090773)x1 copy number loss See cases [RCV000141506] Chr5:70076645..71090773 [GRCh38]
Chr5:69372472..70386600 [GRCh37]
Chr5:69408228..70422356 [NCBI36]
Chr5:5q13.2
benign
GRCh38/hg38 5q13.2(chr5:70076645-71291191)x3 copy number gain See cases [RCV000141526] Chr5:70076645..71291191 [GRCh38]
Chr5:69372472..70587018 [GRCh37]
Chr5:69408228..70622774 [NCBI36]
Chr5:5q13.2
benign
GRCh38/hg38 5q13.2(chr5:70076645-70951975)x3 copy number gain See cases [RCV000142384] Chr5:70076645..70951975 [GRCh38]
Chr5:69372472..70247802 [GRCh37]
Chr5:69408228..70283558 [NCBI36]
Chr5:5q13.2
benign
GRCh38/hg38 5q13.2(chr5:70076645-70951975)x1 copy number loss See cases [RCV000142385] Chr5:70076645..70951975 [GRCh38]
Chr5:69372472..70247802 [GRCh37]
Chr5:69408228..70283558 [NCBI36]
Chr5:5q13.2
benign
GRCh38/hg38 5q13.2(chr5:69679482-71317302)x1 copy number loss See cases [RCV000142408] Chr5:69679482..71317302 [GRCh38]
Chr5:68975309..70613129 [GRCh37]
Chr5:69011065..70648885 [NCBI36]
Chr5:5q13.2
benign
GRCh38/hg38 5q13.2(chr5:69942862-71291192)x3 copy number gain See cases [RCV000142474] Chr5:69942862..71291192 [GRCh38]
Chr5:69238689..70587019 [GRCh37]
Chr5:69274445..70622775 [NCBI36]
Chr5:5q13.2
benign
GRCh38/hg38 5q13.2(chr5:69679482-71193646)x3 copy number gain See cases [RCV000142419] Chr5:69679482..71193646 [GRCh38]
Chr5:68975309..70489473 [GRCh37]
Chr5:69011065..70525229 [NCBI36]
Chr5:5q13.2
benign
GRCh38/hg38 5q13.2(chr5:69942862-71090767)x3 copy number gain See cases [RCV000142485] Chr5:69942862..71090767 [GRCh38]
Chr5:69238689..70386594 [GRCh37]
Chr5:69274445..70422350 [NCBI36]
Chr5:5q13.2
benign
GRCh38/hg38 5q13.2(chr5:69942862-71032915)x1 copy number loss See cases [RCV000142437] Chr5:69942862..71032915 [GRCh38]
Chr5:69238689..70328742 [GRCh37]
Chr5:69274445..70364498 [NCBI36]
Chr5:5q13.2
benign
GRCh38/hg38 5q12.3-13.2(chr5:65976124-71317474)x3 copy number gain See cases [RCV000142796] Chr5:65976124..71317474 [GRCh38]
Chr5:65271952..70613301 [GRCh37]
Chr5:65307708..70649057 [NCBI36]
Chr5:5q12.3-13.2
uncertain significance
GRCh38/hg38 5q13.2(chr5:69942850-71291191)x1 copy number loss See cases [RCV000148259] Chr5:69942850..71291191 [GRCh38]
Chr5:69238677..70587018 [GRCh37]
Chr5:69274433..70622774 [NCBI36]
Chr5:5q13.2
pathogenic|likely pathogenic|benign
GRCh38/hg38 5q13.2(chr5:70436365-71291191)x1 copy number loss See cases [RCV000148187] Chr5:70436365..71291191 [GRCh38]
Chr5:69732192..70587018 [GRCh37]
Chr5:69767948..70622774 [NCBI36]
Chr5:5q13.2
benign
Single allele deletion Spinal muscular atrophy, type II [RCV000496588] Chr5:70946065..70946175 [GRCh38]
Chr5:70241892..70242002 [GRCh37]
Chr5:5q13.2
pathogenic
NM_000344.4(SMN1):c.835-17C>T single nucleotide variant not specified [RCV001269245] Chr5:70951924 [GRCh38]
Chr5:70247751 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_000344.3(SMN1):c.803A>G (p.Tyr268Cys) single nucleotide variant not specified [RCV000517381] Chr5:70946145 [GRCh38]
Chr5:70241972 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_000344.3(SMN1):c.841A>C (p.Arg281=) single nucleotide variant not specified [RCV000587111] Chr5:70951947 [GRCh38]
Chr5:70247774 [GRCh37]
Chr5:5q13.2
likely benign|uncertain significance
NM_000344.3(SMN1):c.835-24T>G single nucleotide variant not provided [RCV000587253] Chr5:70951917 [GRCh38]
Chr5:70247744 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_000344.3(SMN1):c.865T>A (p.Cys289Ser) single nucleotide variant not specified [RCV000588115] Chr5:70951971 [GRCh38]
Chr5:70247798 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_000344.3(SMN1):c.835-8C>A single nucleotide variant not specified [RCV000588233] Chr5:70951933 [GRCh38]
Chr5:70247760 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_000344.3(SMN1):c.835-15T>G single nucleotide variant not specified [RCV000588786] Chr5:70951926 [GRCh38]
Chr5:70247753 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_000344.3(SMN1):c.835-24T>A single nucleotide variant not provided [RCV000589272] Chr5:70951917 [GRCh38]
Chr5:70247744 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_000344.3(SMN1):c.840C>G (p.Phe280Leu) single nucleotide variant not provided [RCV000589012] Chr5:70951946 [GRCh38]
Chr5:70247773 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_000344.3(SMN1):c.835-29T>G single nucleotide variant not specified [RCV000589140] Chr5:70951912 [GRCh38]
Chr5:70247739 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_000344.3(SMN1):c.835-28T>C single nucleotide variant not provided [RCV000590673] Chr5:70951913 [GRCh38]
Chr5:70247740 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_000344.3(SMN1):c.835-18C>T single nucleotide variant not specified [RCV000590791] Chr5:70951923 [GRCh38]
Chr5:70247750 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_000344.3(SMN1):c.835-14T>A single nucleotide variant not provided [RCV000586757] Chr5:70951927 [GRCh38]
Chr5:70247754 [GRCh37]
Chr5:5q13.2
uncertain significance
GRCh37/hg19 5q13.2(chr5:68728731-68849653)x3 copy number gain not specified [RCV000453642] Chr5:68728731..68849653 [GRCh37]
Chr5:5q13.2
likely benign
GRCh37/hg19 5q12.1-13.2(chr5:60722469-70792199)x1 copy number loss See cases [RCV000447549] Chr5:60722469..70792199 [GRCh37]
Chr5:5q12.1-13.2
pathogenic
NM_000344.3(SMN1):c.460C>T (p.Gln154Ter) single nucleotide variant not provided [RCV000713370] Chr5:70942544 [GRCh38]
Chr5:70238371 [GRCh37]
Chr5:5q13.2
likely pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_001297715.1(SMN1):c.835-478dup duplication Spinal muscular atrophy [RCV000586101] Chr5:70951956..70951957 [GRCh38]
Chr5:70247783..70247784 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_000344.3(SMN1):c.835-3C>T single nucleotide variant Spinal muscular atrophy [RCV000798141]|Spinal muscular atrophy, type IV [RCV000785808]|not provided [RCV000586221]|not specified [RCV001290445] Chr5:70951938 [GRCh38]
Chr5:70247765 [GRCh37]
Chr5:5q13.2
pathogenic|uncertain significance
NM_000344.3(SMN1):c.835-4dup duplication Spinal muscular atrophy [RCV000632189]|not specified [RCV001175473] Chr5:70951936..70951937 [GRCh38]
Chr5:70247763..70247764 [GRCh37]
Chr5:5q13.2
likely benign|uncertain significance
NM_000344.3(SMN1):c.462A>G (p.Gln154=) single nucleotide variant Spinal muscular atrophy [RCV001079364]|not provided [RCV000713371]|not specified [RCV001261639] Chr5:70942546 [GRCh38]
Chr5:70238373 [GRCh37]
Chr5:5q13.2
benign|likely benign
NC_000005.10:g.(?_70951941)_(70951991_?)del deletion Spinal muscular atrophy [RCV000707749] Chr5:70951941..70951991 [GRCh38]
Chr5:70247768..70247818 [GRCh37]
Chr5:5q13.2
pathogenic
NM_000344.3(SMN1):c.109dup (p.Thr37fs) duplication not provided [RCV000713369] Chr5:70938865..70938866 [GRCh38]
Chr5:70234692..70234693 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_000344.3(SMN1):c.840C>T (p.Phe280=) single nucleotide variant Spinal muscular atrophy [RCV001249781]|Werdnig-Hoffmann disease [RCV000768448]|not provided [RCV000713374] Chr5:70951946 [GRCh38]
Chr5:70247773 [GRCh37]
Chr5:5q13.2
pathogenic|benign
NM_000344.3(SMN1):c.770_780dup (p.Gly261fs) duplication Werdnig-Hoffmann disease [RCV000785794]|not provided [RCV000713372] Chr5:70946109..70946110 [GRCh38]
Chr5:70241936..70241937 [GRCh37]
Chr5:5q13.2
pathogenic
NM_000344.3(SMN1):c.835-21_*3+17del deletion Spinal muscular atrophy [RCV000692613] Chr5:70951920..70952011 [GRCh38]
Chr5:70247747..70247838 [GRCh37]
Chr5:5q13.2
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NC_000005.9:g.68849594_70657747dup duplication Primary amenorrhea [RCV000754422] Chr5:69553767..71361920 [GRCh38]
Chr5:68849594..70657747 [GRCh37]
Chr5:5q13.2
benign
NC_000005.9:g.69741318_70422356del681039 deletion Primary amenorrhea [RCV000754423] Chr5:70445491..71126529 [GRCh38]
Chr5:69741318..70422356 [GRCh37]
Chr5:5q13.2
benign
NC_000005.9:g.69767948_70345611del577664 deletion Primary amenorrhea [RCV000754424] Chr5:70472121..71049784 [GRCh38]
Chr5:69767948..70345611 [GRCh37]
Chr5:5q13.2
benign
NC_000005.9:g.68818173_70657747del1839575 deletion Primary amenorrhea [RCV000754421] Chr5:69522346..71361920 [GRCh38]
Chr5:68818173..70657747 [GRCh37]
Chr5:5q13.2
benign
GRCh37/hg19 5q13.1-13.2(chr5:68278453-70369959)x3 copy number gain not provided [RCV000754758] Chr5:68278453..70369959 [GRCh37]
Chr5:5q13.1-13.2
uncertain significance
GRCh37/hg19 5q13.2(chr5:68850595-70636542)x1 copy number loss not provided [RCV000744785] Chr5:68850595..70636542 [GRCh37]
Chr5:5q13.2
uncertain significance
GRCh37/hg19 5q13.2(chr5:68930016-70840233)x3 copy number gain not provided [RCV000744786] Chr5:68930016..70840233 [GRCh37]
Chr5:5q13.2
benign
GRCh37/hg19 5q13.2(chr5:69306245-70689452)x1 copy number loss not provided [RCV000744793] Chr5:69306245..70689452 [GRCh37]
Chr5:5q13.2
benign
GRCh37/hg19 5q13.2(chr5:69971478-70308251)x1 copy number loss not provided [RCV000744807] Chr5:69971478..70308251 [GRCh37]
Chr5:5q13.2
benign
GRCh37/hg19 5q13.2(chr5:70118846-70476393)x1 copy number loss not provided [RCV000744808] Chr5:70118846..70476393 [GRCh37]
Chr5:5q13.2
benign
GRCh37/hg19 5q13.2(chr5:70120134-70261703)x1 copy number loss not provided [RCV000744809] Chr5:70120134..70261703 [GRCh37]
Chr5:5q13.2
benign
GRCh37/hg19 5q13.2(chr5:70121185-70291250)x1 copy number loss not provided [RCV000744810] Chr5:70121185..70291250 [GRCh37]
Chr5:5q13.2
benign
GRCh37/hg19 5q13.2(chr5:70124209-70260103)x1 copy number loss not provided [RCV000744811] Chr5:70124209..70260103 [GRCh37]
Chr5:5q13.2
benign
GRCh37/hg19 5q13.2(chr5:70124209-70287858)x1 copy number loss not provided [RCV000744812] Chr5:70124209..70287858 [GRCh37]
Chr5:5q13.2
benign
GRCh37/hg19 5q13.2(chr5:70209502-70291250)x1 copy number loss not provided [RCV000744813] Chr5:70209502..70291250 [GRCh37]
Chr5:5q13.2
benign
GRCh37/hg19 5q13.2(chr5:70244977-70406536)x1 copy number loss not provided [RCV000744814] Chr5:70244977..70406536 [GRCh37]
Chr5:5q13.2
benign
GRCh37/hg19 5q13.2(chr5:70245745-70400449)x1 copy number loss not provided [RCV000744815] Chr5:70245745..70400449 [GRCh37]
Chr5:5q13.2
benign
NC_000005.10:g.70936291_70945268del deletion Werdnig-Hoffmann disease [RCV000853407]   pathogenic
GRCh37/hg19 5q13.2(chr5:70247762-70248513)x3 copy number gain not provided [RCV000762732] Chr5:70247762..70248513 [GRCh37]
Chr5:5q13.2
likely benign
NM_000344.3(SMN1):c.835-2A>G single nucleotide variant Spinal muscular atrophy [RCV000780722]|Werdnig-Hoffmann disease [RCV000785797] Chr5:70951939 [GRCh38]
Chr5:70247766 [GRCh37]
Chr5:5q13.2
pathogenic|likely pathogenic
NM_000344.3(SMN1):c.842G>C (p.Arg281Thr) single nucleotide variant not specified [RCV000780723] Chr5:70951948 [GRCh38]
Chr5:70247775 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_000344.3(SMN1):c.847A>C (p.Asn283His) single nucleotide variant not specified [RCV000780724] Chr5:70951953 [GRCh38]
Chr5:70247780 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_000344.3(SMN1):c.*1G>A single nucleotide variant not specified [RCV000780725] Chr5:70951992 [GRCh38]
Chr5:70247819 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_000344.3(SMN1):c.835-24del deletion not specified [RCV000780727] Chr5:70951910 [GRCh38]
Chr5:70247737 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_000344.3(SMN1):c.77G>A (p.Gly26Asp) single nucleotide variant not provided [RCV000785798] Chr5:70925180 [GRCh38]
Chr5:70221007 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_000344.3(SMN1):c.5C>T (p.Ala2Val) single nucleotide variant not provided [RCV000785800] Chr5:70925108 [GRCh38]
Chr5:70220935 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_000344.3(SMN1):c.490C>A (p.Gln164Lys) single nucleotide variant Werdnig-Hoffmann disease [RCV000785802]|not provided [RCV000993026] Chr5:70942733 [GRCh38]
Chr5:70238560 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_000344.3(SMN1):c.835-2A>T single nucleotide variant Spinal muscular atrophy [RCV000780721] Chr5:70951939 [GRCh38]
Chr5:70247766 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_000344.3(SMN1):c.835-33T>G single nucleotide variant not specified [RCV000780728] Chr5:70951908 [GRCh38]
Chr5:70247735 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_000344.3(SMN1):c.835-13A>G single nucleotide variant not specified [RCV000781858] Chr5:70951928 [GRCh38]
Chr5:70247755 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_000344.3(SMN1):c.835-13del deletion not specified [RCV000781859] Chr5:70951928 [GRCh38]
Chr5:70247755 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_000344.3(SMN1):c.*2G>C single nucleotide variant not specified [RCV000781860] Chr5:70951993 [GRCh38]
Chr5:70247820 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_000344.3(SMN1):c.837T>C (p.Gly279=) single nucleotide variant not specified [RCV000781861] Chr5:70951943 [GRCh38]
Chr5:70247770 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_000344.3(SMN1):c.835-13A>T single nucleotide variant not specified [RCV000781862] Chr5:70951928 [GRCh38]
Chr5:70247755 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_000344.3(SMN1):c.835-1G>A single nucleotide variant Spinal muscular atrophy [RCV000780726] Chr5:70951940 [GRCh38]
Chr5:70247767 [GRCh37]
Chr5:5q13.2
pathogenic
NM_001297715.1(SMN1):c.835-471dup duplication Spinal muscular atrophy [RCV000798142] Chr5:70951966..70951967 [GRCh38]
Chr5:70247793..70247794 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_000344.3(SMN1):c.510_511del (p.Ser170fs) deletion not provided [RCV000785807] Chr5:70942752..70942753 [GRCh38]
Chr5:70238579..70238580 [GRCh37]
Chr5:5q13.2
pathogenic
NM_000344.3(SMN1):c.*3+1G>A single nucleotide variant Spinal muscular atrophy [RCV001174771]|not provided [RCV000785817] Chr5:70951995 [GRCh38]
Chr5:70247822 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_022874.2(SMN1):c.397_398AG[1] (p.Glu134fs) microsatellite Kugelberg-Welander disease [RCV000009750]|Spinal muscular atrophy, type II [RCV000009749]|Spinal muscular atrophy, type IV [RCV000009751]|Werdnig-Hoffmann disease [RCV000009748]|not provided [RCV000785818] Chr5:70942481..70942484 [GRCh38]
Chr5:70238308..70238311 [GRCh37]
Chr5:5q13.2
pathogenic
NM_000344.3(SMN1):c.662C>T (p.Pro221Leu) single nucleotide variant Spinal muscular atrophy, type II [RCV000785796] Chr5:70944692 [GRCh38]
Chr5:70240519 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_000344.3(SMN1):c.873T>A (p.His291Gln) single nucleotide variant not provided [RCV000785815] Chr5:70951979 [GRCh38]
Chr5:70247806 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_000344.3(SMN1):c.570G>A (p.Trp190Ter) single nucleotide variant not provided [RCV000785801] Chr5:70942813 [GRCh38]
Chr5:70238640 [GRCh37]
Chr5:5q13.2
pathogenic
NC_000005.10:g.(?_70951931)_(70952001_?)del deletion Spinal muscular atrophy [RCV000807248] Chr5:70951931..70952001 [GRCh38]
Chr5:70247758..70247828 [GRCh37]
Chr5:5q13.2
pathogenic
NM_000344.3(SMN1):c.724-2A>G single nucleotide variant Kugelberg-Welander disease [RCV000785811] Chr5:70946064 [GRCh38]
Chr5:70241891 [GRCh37]
Chr5:5q13.2
pathogenic
NM_000344.3(SMN1):c.274_284del11 deletion not provided [RCV000785816] Chr5:70942357..70942367 [GRCh38]
Chr5:70238184..70238194 [GRCh37]
Chr5:5q13.2
pathogenic
NM_000344.3(SMN1):c.278A>C (p.Lys93Thr) single nucleotide variant Kugelberg-Welander disease [RCV000791267] Chr5:70942362 [GRCh38]
Chr5:70238189 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_000344.3(SMN1):c.316G>A (p.Gly106Ser) single nucleotide variant not provided [RCV000785803] Chr5:70942400 [GRCh38]
Chr5:70238227 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_000344.3(SMN1):c.796T>C (p.Ser266Pro) single nucleotide variant not provided [RCV000785804] Chr5:70946138 [GRCh38]
Chr5:70241965 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_000344.3(SMN1):c.866G>A (p.Cys289Tyr) single nucleotide variant not provided [RCV000785812] Chr5:70951972 [GRCh38]
Chr5:70247799 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_000344.3(SMN1):c.48_55dup (p.Val19fs) duplication Spinal muscular atrophy, type II [RCV000785795] Chr5:70925150..70925151 [GRCh38]
Chr5:70220977..70220978 [GRCh37]
Chr5:5q13.2
pathogenic
NM_000344.3(SMN1):c.824G>A (p.Gly275Asp) single nucleotide variant not provided [RCV000785799] Chr5:70946166 [GRCh38]
Chr5:70241993 [GRCh37]
Chr5:5q13.2
likely pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
NM_000344.3(SMN1):c.584del (p.Pro195fs) deletion not provided [RCV000785805] Chr5:70942825 [GRCh38]
Chr5:70238652 [GRCh37]
Chr5:5q13.2
pathogenic
NM_000344.3(SMN1):c.242A>T (p.Gln81Leu) single nucleotide variant not provided [RCV000993024] Chr5:70941477 [GRCh38]
Chr5:70237304 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_000344.3(SMN1):c.469C>T (p.Gln157Ter) single nucleotide variant not provided [RCV000993025] Chr5:70942553 [GRCh38]
Chr5:70238380 [GRCh37]
Chr5:5q13.2
pathogenic
GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1 copy number loss Intellectual disability [RCV000984869] Chr5:58785203..73519962 [GRCh38]
Chr5:5q11.2-13.2
likely pathogenic
NC_000005.10:g.(?_70951912)_(70951994_?)del deletion Spinal muscular atrophy [RCV001032790] Chr5:70247739..70247821 [GRCh37]
Chr5:5q13.2
pathogenic
NM_000344.4(SMN1):c.835-21C>A single nucleotide variant not specified [RCV001192809] Chr5:70951920 [GRCh38]
Chr5:70247747 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_000344.4(SMN1):c.*4G>A single nucleotide variant not specified [RCV001192810] Chr5:70952439 [GRCh38]
Chr5:70248266 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_000344.4(SMN1):c.864G>T (p.Arg288Ser) single nucleotide variant Spinal muscular atrophy [RCV001240407]|not specified [RCV001192811] Chr5:70951970 [GRCh38]
Chr5:70247797 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_000344.4(SMN1):c.280G>T (p.Val94Phe) single nucleotide variant Werdnig-Hoffmann disease [RCV001194654] Chr5:70942364 [GRCh38]
Chr5:70238191 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_000344.4(SMN1):c.836G>A (p.Gly279Asp) single nucleotide variant not specified [RCV001192808] Chr5:70951942 [GRCh38]
Chr5:70247769 [GRCh37]
Chr5:5q13.2
uncertain significance
GRCh37/hg19 5q13.2(chr5:70247768-70248841)x1 copy number loss Werdnig-Hoffmann disease [RCV001263251] Chr5:70247768..70248841 [GRCh37]
Chr5:5q13.2
pathogenic
NM_000344.4(SMN1):c.*3+1G>C single nucleotide variant Spinal muscular atrophy [RCV001192812] Chr5:70951995 [GRCh38]
Chr5:70247822 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_000344.4(SMN1):c.835-17C>G single nucleotide variant not specified [RCV001192813] Chr5:70951924 [GRCh38]
Chr5:70247751 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_000344.4(SMN1):c.*3+3A>T single nucleotide variant Werdnig-Hoffmann disease [RCV001194661] Chr5:70951997 [GRCh38]
Chr5:70247824 [GRCh37]
Chr5:5q13.2
likely pathogenic
GRCh37/hg19 5q13.2(chr5:70247768-70247821) copy number loss Spinal muscular atrophy [RCV001171639] Chr5:70247768..70247821 [GRCh37]
Chr5:5q13.2
pathogenic
NM_000344.4(SMN1):c.379T>C (p.Tyr127His) single nucleotide variant Kugelberg-Welander disease [RCV001089661] Chr5:70942463 [GRCh38]
Chr5:70238290 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_000344.4(SMN1):c.883T>G (p.Ter295Glu) single nucleotide variant not specified [RCV001251308] Chr5:70951989 [GRCh38]
Chr5:70247816 [GRCh37]
Chr5:5q13.2
uncertain significance
GRCh37/hg19 5q13.2(chr5:68831650-70663428)x1 copy number loss not provided [RCV001258858] Chr5:68831650..70663428 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_000344.4(SMN1):c.*6A>G single nucleotide variant not specified [RCV001264591] Chr5:70952441 [GRCh38]
Chr5:70248268 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_000344.4(SMN1):c.835-19T>A single nucleotide variant not specified [RCV001264429] Chr5:70951922 [GRCh38]
Chr5:70247749 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_000344.4(SMN1):c.*10C>A single nucleotide variant not specified [RCV001264592] Chr5:70952445 [GRCh38]
Chr5:70248272 [GRCh37]
Chr5:5q13.2
uncertain significance
GRCh37/hg19 5q13.2(chr5:70247768-70248841)x1 copy number loss Werdnig-Hoffmann disease [RCV001263252] Chr5:70247768..70248841 [GRCh37]
Chr5:5q13.2
pathogenic
NM_000344.4(SMN1):c.724_885del (p.Ile242_Ter295del) deletion Werdnig-Hoffmann disease [RCV001250171] Chr5:70946066..70951991 [GRCh38]
Chr5:70241893..70247818 [GRCh37]
Chr5:5q13.2
pathogenic
NM_000344.4(SMN1):c.835-31T>G single nucleotide variant not specified [RCV001328452] Chr5:70951910 [GRCh38]
Chr5:70247737 [GRCh37]
Chr5:5q13.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11117 AgrOrtholog
COSMIC SMN1 COSMIC
Ensembl Genes ENSG00000172062 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000205571 Ensembl, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000273772 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000275349 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000277773 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000305857 UniProtKB/Swiss-Prot
  ENSP00000370083 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000370117 UniProtKB/Swiss-Prot
  ENSP00000370118 UniProtKB/Swiss-Prot
  ENSP00000370119 UniProtKB/Swiss-Prot
  ENSP00000422679 UniProtKB/TrEMBL
  ENSP00000423298 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000424282 UniProtKB/TrEMBL
  ENSP00000424799 UniProtKB/TrEMBL
  ENSP00000424926 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000428128 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000430657 UniProtKB/TrEMBL
  ENSP00000475331 UniProtKB/TrEMBL
  ENSP00000475824 UniProtKB/TrEMBL
  ENSP00000477720 UniProtKB/TrEMBL
  ENSP00000477738 UniProtKB/TrEMBL
  ENSP00000478274 UniProtKB/TrEMBL
  ENSP00000478583 UniProtKB/TrEMBL
  ENSP00000479279 UniProtKB/Swiss-Prot
  ENSP00000479920 UniProtKB/Swiss-Prot
  ENSP00000480541 UniProtKB/TrEMBL
  ENSP00000480906 UniProtKB/Swiss-Prot
  ENSP00000481427 UniProtKB/Swiss-Prot
  ENSP00000482226 UniProtKB/TrEMBL
  ENSP00000482966 UniProtKB/Swiss-Prot
  ENSP00000483515 UniProtKB/Swiss-Prot
  ENSP00000483768 UniProtKB/Swiss-Prot
  ENSP00000483819 UniProtKB/Swiss-Prot
  ENSP00000485595 UniProtKB/Swiss-Prot
  ENSP00000485777 UniProtKB/TrEMBL
  ENSP00000485830 UniProtKB/TrEMBL
  ENSP00000486022 UniProtKB/TrEMBL
  ENSP00000486030 UniProtKB/TrEMBL
  ENSP00000486152 UniProtKB/Swiss-Prot
  ENSP00000486268 UniProtKB/TrEMBL
  ENSP00000486539 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000486922 UniProtKB/TrEMBL
  ENSP00000487015 UniProtKB/Swiss-Prot
  ENSP00000487029 UniProtKB/Swiss-Prot
  ENSP00000487162 UniProtKB/TrEMBL
  ENSP00000487186 UniProtKB/TrEMBL
  ENSP00000487193 UniProtKB/TrEMBL
  ENSP00000487206 UniProtKB/Swiss-Prot
  ENSP00000487289 UniProtKB/TrEMBL
  ENSP00000487421 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000351205 UniProtKB/Swiss-Prot
  ENST00000380707 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000380741 UniProtKB/Swiss-Prot
  ENST00000380742 UniProtKB/Swiss-Prot
  ENST00000380743 UniProtKB/Swiss-Prot
  ENST00000503079 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000506163 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000506239 UniProtKB/TrEMBL
  ENST00000506734 UniProtKB/TrEMBL
  ENST00000507458 UniProtKB/TrEMBL
  ENST00000507905 UniProtKB/TrEMBL
  ENST00000511812 UniProtKB/TrEMBL
  ENST00000511873 UniProtKB/TrEMBL
  ENST00000514951 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000610814 UniProtKB/TrEMBL
  ENST00000611442 UniProtKB/Swiss-Prot
  ENST00000612446 UniProtKB/TrEMBL
  ENST00000612974 UniProtKB/TrEMBL
  ENST00000614240 UniProtKB/Swiss-Prot
  ENST00000614610 UniProtKB/Swiss-Prot
  ENST00000614773 UniProtKB/Swiss-Prot
  ENST00000617648 UniProtKB/TrEMBL
  ENST00000618251 UniProtKB/Swiss-Prot
  ENST00000618661 UniProtKB/Swiss-Prot
  ENST00000619658 UniProtKB/TrEMBL
  ENST00000620650 UniProtKB/TrEMBL
  ENST00000622158 UniProtKB/Swiss-Prot
  ENST00000622739 UniProtKB/Swiss-Prot
  ENST00000624634 UniProtKB/Swiss-Prot
  ENST00000625245 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000625462 UniProtKB/TrEMBL
  ENST00000625687 UniProtKB/TrEMBL
  ENST00000626580 UniProtKB/TrEMBL
  ENST00000626847 UniProtKB/Swiss-Prot
  ENST00000627306 UniProtKB/TrEMBL
  ENST00000627341 UniProtKB/Swiss-Prot
  ENST00000628043 UniProtKB/TrEMBL
  ENST00000628353 UniProtKB/Swiss-Prot
  ENST00000628642 UniProtKB/Swiss-Prot
  ENST00000628696 UniProtKB/TrEMBL
  ENST00000629122 UniProtKB/Swiss-Prot
  ENST00000629741 UniProtKB/TrEMBL
  ENST00000630432 UniProtKB/TrEMBL
  ENST00000631104 UniProtKB/TrEMBL
  ENST00000631131 UniProtKB/TrEMBL
GTEx ENSG00000172062 GTEx
  ENSG00000205571 GTEx
  ENSG00000273772 GTEx
  ENSG00000275349 GTEx
  ENSG00000277773 GTEx
HGNC ID HGNC:11117 ENTREZGENE
Human Proteome Map SMN1 Human Proteome Map
InterPro Survival_motor_neuron UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tudor UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6606 UniProtKB/Swiss-Prot
  hsa:6607 UniProtKB/Swiss-Prot
NCBI Gene 6606 ENTREZGENE
OMIM 253300 OMIM
  253400 OMIM
  253550 OMIM
  271150 OMIM
  600354 OMIM
Pfam SMN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35966 PharmGKB
PROSITE TUDOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART TUDOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0G2JQN8_HUMAN UniProtKB/TrEMBL
  A0A0G2JRX5_HUMAN UniProtKB/TrEMBL
  A0A0G2JRY6_HUMAN UniProtKB/TrEMBL
  A0A3G6V326_HUMAN UniProtKB/TrEMBL
  A0A3G6V344_HUMAN UniProtKB/TrEMBL
  A0A3G6V4Y6_HUMAN UniProtKB/TrEMBL
  A0A3G6V6Q6_HUMAN UniProtKB/TrEMBL
  A0A411D760_HUMAN UniProtKB/TrEMBL
  B4DP61 ENTREZGENE, UniProtKB/TrEMBL
  E7EQZ4 ENTREZGENE, UniProtKB/TrEMBL
  H0YBZ9_HUMAN UniProtKB/TrEMBL
  I2E4T3_HUMAN UniProtKB/TrEMBL
  I3QJX8_HUMAN UniProtKB/TrEMBL
  I3QJX9_HUMAN UniProtKB/TrEMBL
  I4BZJ7_HUMAN UniProtKB/TrEMBL
  Q16637 ENTREZGENE, UniProtKB/Swiss-Prot
  U3KPX7_HUMAN UniProtKB/TrEMBL
UniProt Secondary A8K0V4 UniProtKB/Swiss-Prot
  Q13119 UniProtKB/Swiss-Prot
  Q549U5 UniProtKB/Swiss-Prot
  Q96J51 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 SMN1  survival of motor neuron 1, telomeric  SMA@  spinal muscular atrophy (Werdnig-Hoffmann disease, Kugelberg-Welander disease)  Data Merged 737654 PROVISIONAL
2011-08-16 SMN1  survival of motor neuron 1, telomeric  SMN1  survival of motor neuron 1, telomeric  Symbol and/or name change 5135510 APPROVED