CHRNA1 (cholinergic receptor nicotinic alpha 1 subunit) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: CHRNA1 (cholinergic receptor nicotinic alpha 1 subunit) Homo sapiens
Analyze
Symbol: CHRNA1
Name: cholinergic receptor nicotinic alpha 1 subunit
RGD ID: 732599
HGNC Page HGNC
Description: Enables acetylcholine-gated cation-selective channel activity. Involved in several processes, including muscle cell cellular homeostasis; neuronal action potential; and skeletal muscle tissue growth. Acts upstream of or within neuromuscular junction development; neuromuscular synaptic transmission; and regulation of membrane potential. Located in cell surface and plasma membrane. Is active in neuromuscular junction. Implicated in congenital myasthenic syndrome 1A and congenital myasthenic syndrome 1B.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: acetylcholine receptor subunit alpha; acetylcholine receptor, nicotinic, alpha 1 (muscle); ACHRA; ACHRD; cholinergic receptor, nicotinic alpha 1; cholinergic receptor, nicotinic, alpha 1 (muscle); cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle); CHRNA; CMS1A; CMS1B; CMS2A; FCCMS; muscle nicotinic acetylcholine receptor; nicotinic acetylcholine receptor alpha subunit; nicotinic cholinergic receptor alpha 1; SCCMS
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382174,747,592 - 174,764,472 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl2174,747,592 - 174,787,935 (-)EnsemblGRCh38hg38GRCh38
GRCh372175,612,320 - 175,629,200 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362175,320,566 - 175,337,427 (-)NCBINCBI36hg18NCBI36
Build 342175,438,113 - 175,454,677NCBI
Celera2169,225,856 - 169,242,726 (-)NCBI
Cytogenetic Map2q31.1NCBI
HuRef2167,492,831 - 167,509,717 (-)NCBIHuRef
CHM1_12175,618,423 - 175,635,290 (-)NCBICHM1_1
T2T-CHM13v2.02175,236,308 - 175,253,177 (-)NCBI
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

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cervical curvature  (IAGP)
Abnormal facial shape  (IAGP)
Abnormality of masticatory muscle  (IAGP)
Akinesia  (IAGP)
Amyoplasia  (IAGP)
Ankle weakness  (IAGP)
Arthrogryposis multiplex congenita  (IAGP)
Autism  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bulbar palsy  (IAGP)
Cleft palate  (IAGP)
Cyanosis  (IAGP)
Cystic hygroma  (IAGP)
Decreased miniature endplate potentials  (IAGP)
Decreased size of nerve terminals  (IAGP)
Delayed gross motor development  (IAGP)
Depressed nasal ridge  (IAGP)
Diplopia  (IAGP)
Drowsiness  (IAGP)
Dysarthria  (IAGP)
Dysphagia  (IAGP)
Easy fatigability  (IAGP)
Edema  (IAGP)
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation  (IAGP)
EMG: myopathic abnormalities  (IAGP)
Epicanthus  (IAGP)
Exertional dyspnea  (IAGP)
Facial palsy  (IAGP)
Fatigable weakness  (IAGP)
Fatigable weakness of neck muscles  (IAGP)
Fatigable weakness of respiratory muscles  (IAGP)
Feeding difficulties  (IAGP)
Fetal akinesia sequence  (IAGP)
Fetal ascites  (IAGP)
Flexion contracture  (IAGP)
Generalized muscle weakness  (IAGP)
Gowers sign  (IAGP)
High palate  (IAGP)
Hip flexor weakness  (IAGP)
Hydrops fetalis  (IAGP)
Hypertelorism  (IAGP)
Hypoplastic heart  (IAGP)
Increased susceptibility to fractures  (IAGP)
Infantile onset  (IAGP)
Intermittent episodes of respiratory insufficiency due to muscle weakness  (IAGP)
Intrauterine growth retardation  (IAGP)
Joint dislocation  (IAGP)
Low-set ears  (IAGP)
Macrotia  (IAGP)
Malignant hyperthermia  (IAGP)
Micrognathia  (IAGP)
Motor delay  (IAGP)
Multiple pterygia  (IAGP)
Neck flexor weakness  (IAGP)
Neck muscle weakness  (IAGP)
Neonatal hypotonia  (IAGP)
Nonimmune hydrops fetalis  (IAGP)
Onset  (IAGP)
Ophthalmoparesis  (IAGP)
Ophthalmoplegia  (IAGP)
Orthopnea  (IAGP)
Pleural effusion  (IAGP)
Polyhydramnios  (IAGP)
Poor suck  (IAGP)
Prolonged miniature endplate currents  (IAGP)
Ptosis  (IAGP)
Pulmonary hypoplasia  (IAGP)
Reduced tendon reflexes  (IAGP)
Reduced vital capacity  (IAGP)
Respiratory failure  (IAGP)
Respiratory insufficiency due to muscle weakness  (IAGP)
Restrictive ventilatory defect  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Short finger  (IAGP)
Shoulder girdle muscle weakness  (IAGP)
Skeletal muscle atrophy  (IAGP)
Thin ribs  (IAGP)
Thoracic kyphoscoliosis  (IAGP)
Triceps weakness  (IAGP)
Type 1 muscle fiber predominance  (IAGP)
Type 2 muscle fiber atrophy  (IAGP)
Variable expressivity  (IAGP)
Vertebral fusion  (IAGP)
Weak cry  (IAGP)
Weakness of long finger extensor muscles  (IAGP)
Weakness of the intrinsic hand muscles  (IAGP)
References

Additional References at PubMed
PMID:1397297   PMID:1694127   PMID:1712080   PMID:2221824   PMID:2449458   PMID:3338555   PMID:3651795   PMID:6688857   PMID:7254233   PMID:7619526   PMID:7695910   PMID:7725386  
PMID:7863154   PMID:7902325   PMID:8334706   PMID:8441631   PMID:8872460   PMID:8910344   PMID:9158151   PMID:9221765   PMID:9546329   PMID:10195214   PMID:10910772   PMID:10958399  
PMID:12015305   PMID:12477932   PMID:12588888   PMID:12928480   PMID:15028279   PMID:15079006   PMID:16435141   PMID:17028140   PMID:17082486   PMID:17373692   PMID:17687331   PMID:18179903  
PMID:18252226   PMID:18625075   PMID:18806275   PMID:19010884   PMID:19059502   PMID:19086053   PMID:19259974   PMID:19307444   PMID:19760673   PMID:19913121   PMID:20201926   PMID:20301347  
PMID:20379614   PMID:20628086   PMID:20661225   PMID:20734064   PMID:21873635   PMID:22728938   PMID:23232035   PMID:23448903   PMID:23775407   PMID:24121633   PMID:24376846   PMID:25279974  
PMID:25670150   PMID:25888793   PMID:26354438   PMID:26656837   PMID:27649498   PMID:29688589   PMID:29987050   PMID:31855720   PMID:32296183   PMID:33476802   PMID:33652901   PMID:33961781  


Genomics

Comparative Map Data
CHRNA1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382174,747,592 - 174,764,472 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl2174,747,592 - 174,787,935 (-)EnsemblGRCh38hg38GRCh38
GRCh372175,612,320 - 175,629,200 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362175,320,566 - 175,337,427 (-)NCBINCBI36hg18NCBI36
Build 342175,438,113 - 175,454,677NCBI
Celera2169,225,856 - 169,242,726 (-)NCBI
Cytogenetic Map2q31.1NCBI
HuRef2167,492,831 - 167,509,717 (-)NCBIHuRef
CHM1_12175,618,423 - 175,635,290 (-)NCBICHM1_1
T2T-CHM13v2.02175,236,308 - 175,253,177 (-)NCBI
Chrna1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39273,393,625 - 73,410,682 (-)NCBIGRCm39mm39
GRCm39 Ensembl273,393,559 - 73,410,682 (-)Ensembl
GRCm38273,563,281 - 73,580,338 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl273,563,215 - 73,580,338 (-)EnsemblGRCm38mm10GRCm38
MGSCv37273,401,338 - 73,418,363 (-)NCBIGRCm37mm9NCBIm37
MGSCv36273,364,120 - 73,381,145 (-)NCBImm8
Celera275,249,906 - 75,266,913 (-)NCBICelera
Cytogenetic Map2C3NCBI
cM Map243.76NCBI
Chrna1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2358,454,763 - 58,469,832 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl358,454,744 - 58,469,840 (-)Ensembl
Rnor_6.0360,445,657 - 60,460,724 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl360,445,666 - 60,460,724 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0366,925,891 - 66,940,958 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4356,087,754 - 56,102,821 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1355,984,129 - 55,999,193 (-)NCBI
Celera357,981,902 - 57,996,970 (-)NCBICelera
Cytogenetic Map3q23NCBI
Chrna1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955449661,304 - 683,873 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955449661,310 - 683,873 (+)NCBIChiLan1.0ChiLan1.0
CHRNA1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12B179,476,147 - 179,509,974 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B179,476,677 - 179,504,763 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02B62,022,498 - 62,039,370 (-)NCBIMhudiblu_PPA_v0panPan3
CHRNA1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13618,726,243 - 18,742,505 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3618,726,243 - 18,742,505 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3618,734,972 - 18,751,239 (-)NCBI
ROS_Cfam_1.03618,862,735 - 18,878,999 (-)NCBI
ROS_Cfam_1.0 Ensembl3618,860,880 - 18,878,999 (-)Ensembl
UMICH_Zoey_3.13618,939,222 - 18,955,468 (-)NCBI
UNSW_CanFamBas_1.03618,937,561 - 18,953,818 (-)NCBI
UU_Cfam_GSD_1.03619,048,764 - 19,065,033 (-)NCBI
Chrna1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303135,898,803 - 135,941,651 (-)NCBI
SpeTri2.0NW_0049365094,452,382 - 4,470,658 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CHRNA1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1580,673,033 - 80,692,208 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11580,673,072 - 80,692,256 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21589,888,938 - 89,906,230 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CHRNA1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11060,279,837 - 60,298,931 (-)NCBIChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666040139,305,978 - 139,322,913 (+)NCBIVero_WHO_p1.0
Chrna1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478711,934,433 - 11,950,005 (-)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_00462478711,933,927 - 11,950,017 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
D2S1411  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372175,616,115 - 175,616,397UniSTSGRCh37
Build 362175,324,361 - 175,324,643RGDNCBI36
Celera2169,229,649 - 169,229,931RGD
Cytogenetic Map2q31.1UniSTS
HuRef2167,496,624 - 167,496,906UniSTS
Whitehead-YAC Contig Map2 UniSTS
D2S2716  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372175,612,625 - 175,612,850UniSTSGRCh37
Build 362175,320,871 - 175,321,096RGDNCBI36
Celera2169,226,161 - 169,226,386RGD
Cytogenetic Map2q31.1UniSTS
HuRef2167,493,136 - 167,493,361UniSTS
Whitehead-YAC Contig Map2 UniSTS
CHRNA1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372175,618,333 - 175,619,064UniSTSGRCh37
Celera2169,231,868 - 169,232,599UniSTS
HuRef2167,498,862 - 167,499,593UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1703
Count of miRNA genes:682
Interacting mature miRNAs:756
Transcripts:ENST00000261007, ENST00000348749, ENST00000409219, ENST00000409323, ENST00000409542, ENST00000435083
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1
Medium 2 2 4 6 9 646 648 25 6 23 23 6 643
Low 244 116 284 53 124 17 304 205 561 71 438 174 40 1 50 203 1
Below cutoff 1343 2019 756 284 1032 191 2682 854 2782 155 584 962 97 985 1494 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001039523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC018890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC043196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG828551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD013889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ323657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ323658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM763397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S77094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X02502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X17104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X70108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y00762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z82984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000261007   ⟹   ENSP00000261007
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2174,747,660 - 174,764,461 (-)Ensembl
RefSeq Acc Id: ENST00000348749   ⟹   ENSP00000261008
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2174,747,592 - 174,764,472 (-)Ensembl
RefSeq Acc Id: ENST00000409219   ⟹   ENSP00000386611
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2174,747,810 - 174,764,412 (-)Ensembl
RefSeq Acc Id: ENST00000409323   ⟹   ENSP00000386684
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2174,752,755 - 174,764,453 (-)Ensembl
RefSeq Acc Id: ENST00000409542   ⟹   ENSP00000387026
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2174,747,810 - 174,764,412 (-)Ensembl
RefSeq Acc Id: ENST00000416004
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2174,783,046 - 174,787,928 (-)Ensembl
RefSeq Acc Id: ENST00000435083   ⟹   ENSP00000395805
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2174,747,810 - 174,764,412 (-)Ensembl
RefSeq Acc Id: ENST00000636168   ⟹   ENSP00000490338
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2174,747,817 - 174,787,935 (-)Ensembl
RefSeq Acc Id: ENST00000672640   ⟹   ENSP00000500507
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2174,747,592 - 174,764,472 (-)Ensembl
RefSeq Acc Id: NM_000079   ⟹   NP_000070
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382174,747,592 - 174,764,472 (-)NCBI
GRCh372175,612,320 - 175,629,200 (-)ENTREZGENE
Build 362175,320,566 - 175,337,427 (-)NCBI Archive
HuRef2167,492,831 - 167,509,717 (-)ENTREZGENE
CHM1_12175,618,423 - 175,635,290 (-)NCBI
T2T-CHM13v2.02175,236,308 - 175,253,177 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001039523   ⟹   NP_001034612
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382174,747,592 - 174,764,472 (-)NCBI
GRCh372175,612,320 - 175,629,200 (-)ENTREZGENE
Build 362175,320,566 - 175,337,427 (-)NCBI Archive
HuRef2167,492,831 - 167,509,717 (-)ENTREZGENE
CHM1_12175,618,423 - 175,635,290 (-)NCBI
T2T-CHM13v2.02175,236,308 - 175,253,177 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017003256   ⟹   XP_016858745
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382174,747,592 - 174,759,905 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017003257   ⟹   XP_016858746
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382174,747,592 - 174,759,904 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000070   ⟸   NM_000079
- Peptide Label: isoform b precursor
- UniProtKB: P02708 (UniProtKB/Swiss-Prot),   Q53SH4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001034612   ⟸   NM_001039523
- Peptide Label: isoform a precursor
- UniProtKB: P02708 (UniProtKB/Swiss-Prot),   Q53SH4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016858745   ⟸   XM_017003256
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016858746   ⟸   XM_017003257
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000490338   ⟸   ENST00000636168
RefSeq Acc Id: ENSP00000261008   ⟸   ENST00000348749
RefSeq Acc Id: ENSP00000261007   ⟸   ENST00000261007
RefSeq Acc Id: ENSP00000387026   ⟸   ENST00000409542
RefSeq Acc Id: ENSP00000386684   ⟸   ENST00000409323
RefSeq Acc Id: ENSP00000386611   ⟸   ENST00000409219
RefSeq Acc Id: ENSP00000395805   ⟸   ENST00000435083
RefSeq Acc Id: ENSP00000500507   ⟸   ENST00000672640
Protein Domains
Neur_chan_LBD   Neur_chan_memb

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P02708-F1-model_v2 AlphaFold P02708 1-482 view protein structure

Promoters
RGD ID:6862080
Promoter ID:EPDNEW_H4205
Type:initiation region
Name:CHRNA1_1
Description:cholinergic receptor nicotinic alpha 1 subunit
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
GRCh382174,764,472 - 174,764,532EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000079.4(CHRNA1):c.513C>T (p.Tyr171=) single nucleotide variant Lethal multiple pterygium syndrome [RCV000544281] Chr2:174754246 [GRCh38]
Chr2:175618974 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.1333G>A (p.Val445Met) single nucleotide variant Lethal multiple pterygium syndrome [RCV000555125] Chr2:174748165 [GRCh38]
Chr2:175612893 [GRCh37]
Chr2:2q31.1
uncertain significance
CHRNA1, 1-BP DEL, 381C deletion Myasthenic syndrome, congenital, 1B, fast-channel [RCV000020054] Chr2:2q24-q32 pathogenic
CHRNA1, 17-BP DUP, NT117 duplication Lethal multiple pterygium syndrome [RCV000020057] Chr2:2q24-q32 pathogenic
NM_000079.4(CHRNA1):c.235-353G>A single nucleotide variant Myasthenic syndrome, congenital, 1B, fast-channel [RCV000022417] Chr2:174758028 [GRCh38]
Chr2:175622756 [GRCh37]
Chr2:2q31.1
pathogenic
NM_000079.4(CHRNA1):c.997C>T (p.Arg333Trp) single nucleotide variant Lethal multiple pterygium syndrome [RCV000803477]|Myasthenic syndrome, congenital, 1B, fast-channel [RCV000022418] Chr2:174749951 [GRCh38]
Chr2:175614679 [GRCh37]
Chr2:2q31.1
pathogenic|uncertain significance
NM_000079.4(CHRNA1):c.1088C>T (p.Thr363Ile) single nucleotide variant Lethal multiple pterygium syndrome [RCV000524783] Chr2:174748734 [GRCh38]
Chr2:175613462 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.780G>A (p.Gly260=) single nucleotide variant Lethal multiple pterygium syndrome [RCV000526649] Chr2:174750168 [GRCh38]
Chr2:175614896 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.1254G>A (p.Glu418=) single nucleotide variant Lethal multiple pterygium syndrome [RCV001442123]|not provided [RCV000525400] Chr2:174748244 [GRCh38]
Chr2:175612972 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.923C>T (p.Ser308Phe) single nucleotide variant Lethal multiple pterygium syndrome [RCV000527821] Chr2:174750025 [GRCh38]
Chr2:175614753 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.711C>G (p.Asn237Lys) single nucleotide variant Congenital myasthenic syndrome 1A [RCV000020044] Chr2:174753570 [GRCh38]
Chr2:175618298 [GRCh37]
Chr2:2q31.1
pathogenic
NM_000079.4(CHRNA1):c.526G>A (p.Val176Met) single nucleotide variant Congenital myasthenic syndrome 1A [RCV000020045]|Lethal multiple pterygium syndrome [RCV001237075] Chr2:174754233 [GRCh38]
Chr2:175618961 [GRCh37]
Chr2:2q31.1
pathogenic|uncertain significance
NM_000079.4(CHRNA1):c.821C>T (p.Thr274Ile) single nucleotide variant Congenital myasthenic syndrome 1A [RCV000020046] Chr2:174750127 [GRCh38]
Chr2:175614855 [GRCh37]
Chr2:2q31.1
pathogenic
NM_000079.4(CHRNA1):c.517G>A (p.Gly173Ser) single nucleotide variant Congenital myasthenic syndrome 1A [RCV000020047]|Lethal multiple pterygium syndrome [RCV000556947]|not provided [RCV001564390] Chr2:174754242 [GRCh38]
Chr2:175618970 [GRCh37]
Chr2:2q31.1
pathogenic
NM_000079.4(CHRNA1):c.866G>T (p.Ser289Ile) single nucleotide variant Congenital myasthenic syndrome 1A [RCV000020048] Chr2:174750082 [GRCh38]
Chr2:175614810 [GRCh37]
Chr2:2q31.1
pathogenic
NM_000079.4(CHRNA1):c.805G>T (p.Val269Phe) single nucleotide variant Congenital myasthenic syndrome 1A [RCV000020049]|Inborn genetic diseases [RCV000623150]|Lethal multiple pterygium syndrome [RCV001851960] Chr2:174750143 [GRCh38]
Chr2:175614871 [GRCh37]
Chr2:2q31.1
pathogenic|likely pathogenic|uncertain significance
NM_000079.4(CHRNA1):c.913G>A (p.Val305Ile) single nucleotide variant Myasthenic syndrome, congenital, 1B, fast-channel [RCV000020050] Chr2:174750035 [GRCh38]
Chr2:175614763 [GRCh37]
Chr2:2q31.1
pathogenic
NM_000079.4(CHRNA1):c.757T>G (p.Phe253Val) single nucleotide variant Myasthenic syndrome, congenital, 1B, fast-channel [RCV000020051] Chr2:174753524 [GRCh38]
Chr2:175618252 [GRCh37]
Chr2:2q31.1
pathogenic
NM_000079.4(CHRNA1):c.826T>C (p.Phe276Leu) single nucleotide variant Myasthenic syndrome, congenital, 1B, fast-channel [RCV000020052] Chr2:174750122 [GRCh38]
Chr2:175614850 [GRCh37]
Chr2:2q31.1
pathogenic
NM_000079.4(CHRNA1):c.454G>C (p.Val152Leu) single nucleotide variant Myasthenic syndrome, congenital, 1B, fast-channel [RCV000020053] Chr2:174754305 [GRCh38]
Chr2:175619033 [GRCh37]
Chr2:2q31.1
pathogenic
NM_000079.4(CHRNA1):c.1314C>G (p.Cys438Trp) single nucleotide variant Congenital myasthenic syndrome 1A [RCV000020055] Chr2:174748184 [GRCh38]
Chr2:175612912 [GRCh37]
Chr2:2q31.1
pathogenic
NM_000079.4(CHRNA1):c.686G>T (p.Arg229Leu) single nucleotide variant Lethal multiple pterygium syndrome [RCV000020056] Chr2:174753595 [GRCh38]
Chr2:175618323 [GRCh37]
Chr2:2q31.1
pathogenic
GRCh38/hg38 2q31.1-31.2(chr2:172779876-177598000)x1 copy number loss See cases [RCV000050765] Chr2:172779876..177598000 [GRCh38]
Chr2:173644604..178462728 [GRCh37]
Chr2:173352850..178170974 [NCBI36]
Chr2:2q31.1-31.2
pathogenic
GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1 copy number loss See cases [RCV000051201] Chr2:164850117..175559190 [GRCh38]
Chr2:165706627..176423918 [GRCh37]
Chr2:165414873..176132164 [NCBI36]
Chr2:2q24.3-31.1
pathogenic
GRCh38/hg38 2q31.1(chr2:172366752-176361187)x1 copy number loss See cases [RCV000052554] Chr2:172366752..176361187 [GRCh38]
Chr2:173231480..177225915 [GRCh37]
Chr2:172939726..176934161 [NCBI36]
Chr2:2q31.1
pathogenic
GRCh38/hg38 2q31.1-31.2(chr2:173408061-177702487)x1 copy number loss See cases [RCV000052555] Chr2:173408061..177702487 [GRCh38]
Chr2:174272789..178567215 [GRCh37]
Chr2:173981035..178275461 [NCBI36]
Chr2:2q31.1-31.2
pathogenic
GRCh38/hg38 2q31.1(chr2:173699279-175586070)x1 copy number loss See cases [RCV000052556] Chr2:173699279..175586070 [GRCh38]
Chr2:174564007..176450798 [GRCh37]
Chr2:174272253..176159044 [NCBI36]
Chr2:2q31.1
pathogenic
GRCh38/hg38 2q31.1(chr2:173960458-175924594)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052557]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052557]|See cases [RCV000052557] Chr2:173960458..175924594 [GRCh38]
Chr2:174825186..176789322 [GRCh37]
Chr2:174533432..176497568 [NCBI36]
Chr2:2q31.1
pathogenic
GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1 copy number loss See cases [RCV000054122] Chr2:163965382..182195062 [GRCh38]
Chr2:164821892..183059789 [GRCh37]
Chr2:164530138..182768034 [NCBI36]
Chr2:2q24.3-32.1
pathogenic
GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1 copy number loss See cases [RCV000054127] Chr2:170407688..186189894 [GRCh38]
Chr2:171264198..187054621 [GRCh37]
Chr2:170972444..186762866 [NCBI36]
Chr2:2q31.1-32.1
pathogenic
NM_001039523.2(CHRNA1):c.641A>G (p.Asn214Ser) single nucleotide variant Malignant melanoma [RCV000065207] Chr2:174753715 [GRCh38]
Chr2:175618443 [GRCh37]
Chr2:175326689 [NCBI36]
Chr2:2q31.1
not provided
NM_001039523.2(CHRNA1):c.277G>A (p.Gly93Arg) single nucleotide variant Malignant melanoma [RCV000060404] Chr2:174757978 [GRCh38]
Chr2:175622706 [GRCh37]
Chr2:175330952 [NCBI36]
Chr2:2q31.1
not provided
NM_000079.4(CHRNA1):c.1073A>T (p.Asp358Val) single nucleotide variant Congenital myasthenic syndrome [RCV000330064]|Lethal multiple pterygium syndrome [RCV000548727]|not specified [RCV000116706] Chr2:174748749 [GRCh38]
Chr2:175613477 [GRCh37]
Chr2:2q31.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_000079.4(CHRNA1):c.540+4G>C single nucleotide variant Congenital myasthenic syndrome [RCV000266267]|Lethal multiple pterygium syndrome [RCV000545178]|not specified [RCV000116707] Chr2:174754215 [GRCh38]
Chr2:175618943 [GRCh37]
Chr2:2q31.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_000079.4(CHRNA1):c.960C>T (p.His320=) single nucleotide variant Congenital myasthenic syndrome [RCV000291166]|Lethal multiple pterygium syndrome [RCV000380735]|not specified [RCV000116708] Chr2:174749988 [GRCh38]
Chr2:175614716 [GRCh37]
Chr2:2q31.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_000079.4(CHRNA1):c.737C>A (p.Ser246Tyr) single nucleotide variant Myasthenic syndrome, slow-channel congenital [RCV000122732] Chr2:174753544 [GRCh38]
Chr2:175618272 [GRCh37]
Chr2:2q31.1
pathogenic
NM_000079.4(CHRNA1):c.737C>T (p.Ser246Phe) single nucleotide variant Lethal multiple pterygium syndrome [RCV001047612]|Myasthenic syndrome, slow-channel congenital [RCV000122733] Chr2:174753544 [GRCh38]
Chr2:175618272 [GRCh37]
Chr2:2q31.1
pathogenic|uncertain significance
NM_000079.4(CHRNA1):c.687C>T (p.Arg229=) single nucleotide variant Non-immune hydrops fetalis [RCV000170571] Chr2:174753594 [GRCh38]
Chr2:175618322 [GRCh37]
Chr2:2q31.1
pathogenic|likely pathogenic
NM_000079.4(CHRNA1):c.3G>A (p.Met1Ile) single nucleotide variant Lethal multiple pterygium syndrome [RCV001294154] Chr2:174764392 [GRCh38]
Chr2:175629120 [GRCh37]
Chr2:2q31.1
pathogenic
NM_000079.4(CHRNA1):c.4G>T (p.Glu2Ter) single nucleotide variant Lethal multiple pterygium syndrome [RCV001292897] Chr2:174764391 [GRCh38]
Chr2:175629119 [GRCh37]
Chr2:2q31.1
pathogenic
NM_000079.4(CHRNA1):c.317G>A (p.Trp106Ter) single nucleotide variant not provided [RCV001579570] Chr2:174757593 [GRCh38]
Chr2:175622321 [GRCh37]
Chr2:2q31.1
pathogenic|likely pathogenic
NM_000079.4(CHRNA1):c.778+201G>A single nucleotide variant not provided [RCV001545633] Chr2:174753302 [GRCh38]
Chr2:175618030 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.218A>C (p.Asn73Thr) single nucleotide variant Lethal multiple pterygium syndrome [RCV001302449] Chr2:174759347 [GRCh38]
Chr2:175624075 [GRCh37]
Chr2:2q31.1
uncertain significance
GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1 copy number loss See cases [RCV000136850] Chr2:171429233..189179568 [GRCh38]
Chr2:172285743..190044294 [GRCh37]
Chr2:171993989..189752539 [NCBI36]
Chr2:2q31.1-32.2
pathogenic
GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1 copy number loss See cases [RCV000136861] Chr2:174634502..189000964 [GRCh38]
Chr2:175499230..189865690 [GRCh37]
Chr2:175207476..189573935 [NCBI36]
Chr2:2q31.1-32.2
pathogenic
GRCh38/hg38 2q31.1(chr2:173713838-175467462)x3 copy number gain See cases [RCV000138664] Chr2:173713838..175467462 [GRCh38]
Chr2:174578566..176332190 [GRCh37]
Chr2:174286812..176040436 [NCBI36]
Chr2:2q31.1
uncertain significance|conflicting data from submitters
GRCh38/hg38 2q31.1-31.2(chr2:171513047-177854080)x1 copy number loss See cases [RCV000139646] Chr2:171513047..177854080 [GRCh38]
Chr2:172369557..178718807 [GRCh37]
Chr2:172077803..178427053 [NCBI36]
Chr2:2q31.1-31.2
pathogenic
GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3 copy number gain See cases [RCV000142286] Chr2:154294042..175989372 [GRCh38]
Chr2:155150555..176854100 [GRCh37]
Chr2:154858801..176562346 [NCBI36]
Chr2:2q24.1-31.1
pathogenic
GRCh38/hg38 2q31.1(chr2:173713838-175467462)x1 copy number loss See cases [RCV000142878] Chr2:173713838..175467462 [GRCh38]
Chr2:174578566..176332190 [GRCh37]
Chr2:174286812..176040436 [NCBI36]
Chr2:2q31.1
pathogenic
GRCh38/hg38 2q31.1-31.3(chr2:174236451-181188846)x1 copy number loss See cases [RCV000143597] Chr2:174236451..181188846 [GRCh38]
Chr2:175101179..182053573 [GRCh37]
Chr2:174809425..181761818 [NCBI36]
Chr2:2q31.1-31.3
pathogenic
NM_000079.4(CHRNA1):c.643G>A (p.Asp215Asn) single nucleotide variant Congenital myasthenic syndrome [RCV000364273]|Lethal multiple pterygium syndrome [RCV001083064]|not provided [RCV000870803]|not specified [RCV000193476] Chr2:174753638 [GRCh38]
Chr2:175618366 [GRCh37]
Chr2:2q31.1
benign|likely benign|uncertain significance
NM_000079.4(CHRNA1):c.655C>T (p.Leu219=) single nucleotide variant Congenital myasthenic syndrome [RCV000277508]|Lethal multiple pterygium syndrome [RCV001086080]|not provided [RCV000724411]|not specified [RCV000246828] Chr2:174753626 [GRCh38]
Chr2:175618354 [GRCh37]
Chr2:2q31.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000079.4(CHRNA1):c.948C>A (p.Ile316=) single nucleotide variant Lethal multiple pterygium syndrome [RCV001087107]|not provided [RCV000179711] Chr2:174750000 [GRCh38]
Chr2:175614728 [GRCh37]
Chr2:2q31.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000079.4(CHRNA1):c.1247C>T (p.Ala416Val) single nucleotide variant Congenital myasthenic syndrome [RCV000319368]|Lethal multiple pterygium syndrome [RCV001052343] Chr2:174748251 [GRCh38]
Chr2:175612979 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.1321G>A (p.Gly441Arg) single nucleotide variant Autistic disorder [RCV000679850]|Lethal multiple pterygium syndrome [RCV000542688]|not provided [RCV000522179] Chr2:174748177 [GRCh38]
Chr2:175612905 [GRCh37]
Chr2:2q31.1
pathogenic|likely pathogenic
NM_000079.4(CHRNA1):c.1233G>T (p.Glu411Asp) single nucleotide variant Congenital myasthenic syndrome [RCV000355540]|Lethal multiple pterygium syndrome [RCV000553938]|not provided [RCV001764303]|not specified [RCV000517943] Chr2:174748589 [GRCh38]
Chr2:175613317 [GRCh37]
Chr2:2q31.1
benign|likely benign|uncertain significance
NM_000079.4(CHRNA1):c.1002+9G>A single nucleotide variant Congenital myasthenic syndrome [RCV000275802]|Lethal multiple pterygium syndrome [RCV000642126] Chr2:174749937 [GRCh38]
Chr2:175614665 [GRCh37]
Chr2:2q31.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000079.4(CHRNA1):c.1293C>T (p.Leu431=) single nucleotide variant Congenital myasthenic syndrome [RCV000358139]|Lethal multiple pterygium syndrome [RCV000875271] Chr2:174748205 [GRCh38]
Chr2:175612933 [GRCh37]
Chr2:2q31.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000079.4(CHRNA1):c.705C>A (p.Ile235=) single nucleotide variant Congenital myasthenic syndrome [RCV000312777]|Lethal multiple pterygium syndrome [RCV000367342] Chr2:174753576 [GRCh38]
Chr2:175618304 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.779-13_779-12del deletion Autosomal recessive multiple pterygium syndrome [RCV000407750]|Congenital Myasthenic Syndrome, Dominant/Recessive [RCV000338507]|not provided [RCV001705502] Chr2:174750181..174750182 [GRCh38]
Chr2:175614909..175614910 [GRCh37]
Chr2:2q31.1
benign
GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3 copy number gain See cases [RCV000239848] Chr2:156489430..182921298 [GRCh37]
Chr2:2q24.1-31.3
pathogenic
NM_000079.4(CHRNA1):c.319C>T (p.Arg107Cys) single nucleotide variant Congenital myasthenic syndrome [RCV000380558]|Juvenile myoclonic epilepsy [RCV000678786]|Lethal multiple pterygium syndrome [RCV000543342] Chr2:174757591 [GRCh38]
Chr2:175622319 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.224G>A (p.Arg75His) single nucleotide variant Congenital myasthenic syndrome [RCV000281666]|Lethal multiple pterygium syndrome [RCV000530873]|not provided [RCV001090465] Chr2:174759341 [GRCh38]
Chr2:175624069 [GRCh37]
Chr2:2q31.1
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 2q31.1(chr2:174586724-176423918)x1 copy number loss See cases [RCV000240261] Chr2:174586724..176423918 [GRCh37]
Chr2:2q31.1
likely pathogenic
NM_000079.4(CHRNA1):c.190-5del deletion Autosomal recessive multiple pterygium syndrome [RCV000311146]|Congenital Myasthenic Syndrome, Dominant/Recessive [RCV000401626]|Congenital myasthenic syndrome 1A [RCV001579073]|Lethal multiple pterygium syndrome [RCV001520951]|Myasthenic syndrome, congenital, 1B, fast-channel [RCV001579074]|not provided [RCV001705341]|not specified [RCV000253666] Chr2:174759380 [GRCh38]
Chr2:175624108 [GRCh37]
Chr2:2q31.1
benign
NM_000079.4(CHRNA1):c.1242+35T>A single nucleotide variant not provided [RCV001651148]|not specified [RCV000253776] Chr2:174748545 [GRCh38]
Chr2:175613273 [GRCh37]
Chr2:2q31.1
benign
NM_000079.4(CHRNA1):c.-13G>A single nucleotide variant not specified [RCV000251405] Chr2:174764407 [GRCh38]
Chr2:175629135 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.1003-33_1003-31del microsatellite not provided [RCV000839702]|not specified [RCV000244249] Chr2:174748850..174748852 [GRCh38]
Chr2:175613578..175613580 [GRCh37]
Chr2:2q31.1
benign
NM_001039523.2(CHRNA1):c.-478A>G single nucleotide variant Lethal multiple pterygium syndrome [RCV001510940]|not provided [RCV001668453]|not specified [RCV000249329] Chr2:174764872 [GRCh38]
Chr2:175629600 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_000079.4(CHRNA1):c.-17A>C single nucleotide variant not specified [RCV000244632] Chr2:174764411 [GRCh38]
Chr2:175629139 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.235-358T>C single nucleotide variant not specified [RCV000245321] Chr2:174758033 [GRCh38]
Chr2:175622761 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.235-385C>T single nucleotide variant Congenital myasthenic syndrome 1A [RCV001579071]|Lethal multiple pterygium syndrome [RCV001579070]|Myasthenic syndrome, congenital, 1B, fast-channel [RCV001579072]|not provided [RCV000838773]|not specified [RCV000250261] Chr2:174758060 [GRCh38]
Chr2:175622788 [GRCh37]
Chr2:2q31.1
benign
NM_000079.4(CHRNA1):c.1320C>T (p.Ile440=) single nucleotide variant Lethal multiple pterygium syndrome [RCV001414827]|not specified [RCV000250324] Chr2:174748178 [GRCh38]
Chr2:175612906 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.1243-38C>T single nucleotide variant not specified [RCV000245810] Chr2:174748293 [GRCh38]
Chr2:175613021 [GRCh37]
Chr2:2q31.1
benign
NM_000079.4(CHRNA1):c.946A>C (p.Ile316Leu) single nucleotide variant not provided [RCV000519648] Chr2:174750002 [GRCh38]
Chr2:175614730 [GRCh37]
Chr2:2q31.1
likely pathogenic|uncertain significance
NM_000079.4(CHRNA1):c.*422G>T single nucleotide variant Congenital myasthenic syndrome [RCV000320358]|Lethal multiple pterygium syndrome [RCV000267328] Chr2:174747702 [GRCh38]
Chr2:175612430 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_000079.4(CHRNA1):c.1294G>A (p.Gly432Arg) single nucleotide variant Congenital myasthenic syndrome [RCV000303322]|Lethal multiple pterygium syndrome [RCV000824373] Chr2:174748204 [GRCh38]
Chr2:175612932 [GRCh37]
Chr2:2q31.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000079.4(CHRNA1):c.*411G>A single nucleotide variant Congenital myasthenic syndrome [RCV000371665]|Lethal multiple pterygium syndrome [RCV000319128] Chr2:174747713 [GRCh38]
Chr2:175612441 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_000079.4(CHRNA1):c.1332C>T (p.Ala444=) single nucleotide variant Congenital myasthenic syndrome [RCV000347779]|Lethal multiple pterygium syndrome [RCV000642120] Chr2:174748166 [GRCh38]
Chr2:175612894 [GRCh37]
Chr2:2q31.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000079.4(CHRNA1):c.1248G>A (p.Ala416=) single nucleotide variant Congenital myasthenic syndrome [RCV000304338]|Lethal multiple pterygium syndrome [RCV000871752] Chr2:174748250 [GRCh38]
Chr2:175612978 [GRCh37]
Chr2:2q31.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000079.4(CHRNA1):c.*288G>A single nucleotide variant Congenital myasthenic syndrome [RCV000292429]|Lethal multiple pterygium syndrome [RCV000389051] Chr2:174747836 [GRCh38]
Chr2:175612564 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.*426C>A single nucleotide variant Congenital myasthenic syndrome [RCV000364201]|Lethal multiple pterygium syndrome [RCV000307158]|not provided [RCV001850793] Chr2:174747698 [GRCh38]
Chr2:175612426 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_000079.4(CHRNA1):c.-37A>G single nucleotide variant Congenital myasthenic syndrome [RCV000308236]|Lethal multiple pterygium syndrome [RCV000362888] Chr2:174764431 [GRCh38]
Chr2:175629159 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_000079.4(CHRNA1):c.1139T>C (p.Met380Thr) single nucleotide variant Lethal multiple pterygium syndrome [RCV001087747]|not provided [RCV000362834] Chr2:174748683 [GRCh38]
Chr2:175613411 [GRCh37]
Chr2:2q31.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000079.4(CHRNA1):c.*461A>T single nucleotide variant Congenital myasthenic syndrome [RCV000406605]|Lethal multiple pterygium syndrome [RCV000365487] Chr2:174747663 [GRCh38]
Chr2:175612391 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.813G>A (p.Leu271=) single nucleotide variant Congenital myasthenic syndrome [RCV000377470]|Lethal multiple pterygium syndrome [RCV000874309] Chr2:174750135 [GRCh38]
Chr2:175614863 [GRCh37]
Chr2:2q31.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000079.4(CHRNA1):c.605G>A (p.Arg202Gln) single nucleotide variant Congenital myasthenic syndrome [RCV000383871]|Lethal multiple pterygium syndrome [RCV000329567] Chr2:174753676 [GRCh38]
Chr2:175618404 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.779-12del deletion Autosomal recessive multiple pterygium syndrome [RCV000407715]|Congenital Myasthenic Syndrome, Dominant/Recessive [RCV000297624]|not provided [RCV001538946] Chr2:174750181 [GRCh38]
Chr2:175614909 [GRCh37]
Chr2:2q31.1
benign|uncertain significance
NM_000079.4(CHRNA1):c.779-12_779-11del deletion Autosomal recessive multiple pterygium syndrome [RCV000283001]|Congenital Myasthenic Syndrome, Dominant/Recessive [RCV000342138] Chr2:174750180..174750181 [GRCh38]
Chr2:175614908..175614909 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.*414T>A single nucleotide variant Congenital myasthenic syndrome [RCV000358762]|Lethal multiple pterygium syndrome [RCV000261563] Chr2:174747710 [GRCh38]
Chr2:175612438 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.320G>T (p.Arg107Leu) single nucleotide variant Lethal multiple pterygium syndrome [RCV001313199]|not provided [RCV000387156] Chr2:174757590 [GRCh38]
Chr2:175622318 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.204G>A (p.Gln68=) single nucleotide variant not provided [RCV000366360] Chr2:174759361 [GRCh38]
Chr2:175624089 [GRCh37]
Chr2:2q31.1
conflicting interpretations of pathogenicity|uncertain significance
NM_000079.4(CHRNA1):c.*358C>T single nucleotide variant Congenital myasthenic syndrome [RCV000279387]|Lethal multiple pterygium syndrome [RCV000332169] Chr2:174747766 [GRCh38]
Chr2:175612494 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.1345C>T (p.Arg449Ter) single nucleotide variant not provided [RCV000584889] Chr2:174748153 [GRCh38]
Chr2:175612881 [GRCh37]
Chr2:2q31.1
likely pathogenic|uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_000079.4(CHRNA1):c.410C>T (p.Thr137Met) single nucleotide variant Epilepsy [RCV000781968]|Seizure [RCV000781969]|not provided [RCV000488357] Chr2:174754349 [GRCh38]
Chr2:175619077 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.*275A>G single nucleotide variant Congenital myasthenic syndrome [RCV000398582]|Lethal multiple pterygium syndrome [RCV000349753] Chr2:174747849 [GRCh38]
Chr2:175612577 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.267A>G (p.Pro89=) single nucleotide variant Congenital myasthenic syndrome [RCV000335562]|Lethal multiple pterygium syndrome [RCV000371434] Chr2:174757643 [GRCh38]
Chr2:175622371 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.111C>T (p.Ser37=) single nucleotide variant Congenital myasthenic syndrome [RCV000392287]|Lethal multiple pterygium syndrome [RCV000351967]|not provided [RCV000541752] Chr2:174759566 [GRCh38]
Chr2:175624294 [GRCh37]
Chr2:2q31.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000079.4(CHRNA1):c.912C>T (p.Phe304=) single nucleotide variant Congenital myasthenic syndrome [RCV001136151]|Lethal multiple pterygium syndrome [RCV000551830] Chr2:174750036 [GRCh38]
Chr2:175614764 [GRCh37]
Chr2:2q31.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000079.4(CHRNA1):c.189+12G>A single nucleotide variant Lethal multiple pterygium syndrome [RCV002062983]|not specified [RCV000603502] Chr2:174759476 [GRCh38]
Chr2:175624204 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_000079.4(CHRNA1):c.424G>A (p.Ala142Thr) single nucleotide variant Myasthenic syndrome, slow-channel congenital [RCV000655947] Chr2:174754335 [GRCh38]
Chr2:175619063 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.357C>G (p.Asp119Glu) single nucleotide variant Lethal multiple pterygium syndrome [RCV000556025]|not provided [RCV001755841] Chr2:174754402 [GRCh38]
Chr2:175619130 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.1242+10G>A single nucleotide variant Lethal multiple pterygium syndrome [RCV002059002]|not specified [RCV000432502] Chr2:174748570 [GRCh38]
Chr2:175613298 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.622G>A (p.Val208Met) single nucleotide variant not provided [RCV000438167] Chr2:174753659 [GRCh38]
Chr2:175618387 [GRCh37]
Chr2:2q31.1
likely pathogenic
NM_000079.4(CHRNA1):c.621C>T (p.Ser207=) single nucleotide variant Lethal multiple pterygium syndrome [RCV000533901]|not provided [RCV001720174] Chr2:174753660 [GRCh38]
Chr2:175618388 [GRCh37]
Chr2:2q31.1
benign|likely benign
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3 copy number gain See cases [RCV000448271] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_000079.4(CHRNA1):c.934_942del (p.Thr312_Ile314del) deletion not provided [RCV000485438] Chr2:174750006..174750014 [GRCh38]
Chr2:175614734..175614742 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.235-323G>A single nucleotide variant not provided [RCV000478345] Chr2:174757998 [GRCh38]
Chr2:175622726 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.518dup (p.Ser174fs) duplication Lethal multiple pterygium syndrome [RCV001383195]|not provided [RCV000487200] Chr2:174754240..174754241 [GRCh38]
Chr2:175618968..175618969 [GRCh37]
Chr2:2q31.1
pathogenic|likely pathogenic
NM_000079.4(CHRNA1):c.235-1G>A single nucleotide variant not provided [RCV000480204] Chr2:174757676 [GRCh38]
Chr2:175622404 [GRCh37]
Chr2:2q31.1
likely pathogenic
GRCh37/hg19 2q31.1(chr2:174783555-176832848)x1 copy number loss See cases [RCV000510266] Chr2:174783555..176832848 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.175C>T (p.Gln59Ter) single nucleotide variant not provided [RCV000494143] Chr2:174759502 [GRCh38]
Chr2:175624230 [GRCh37]
Chr2:2q31.1
pathogenic
NM_000079.4(CHRNA1):c.778G>T (p.Gly260Trp) single nucleotide variant not provided [RCV000494647] Chr2:174753503 [GRCh38]
Chr2:175618231 [GRCh37]
Chr2:2q31.1
likely pathogenic
NM_000079.4(CHRNA1):c.383T>G (p.Val128Gly) single nucleotide variant Lethal multiple pterygium syndrome [RCV000532088] Chr2:174754376 [GRCh38]
Chr2:175619104 [GRCh37]
Chr2:2q31.1
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_000079.4(CHRNA1):c.1199A>G (p.Lys400Arg) single nucleotide variant Lethal multiple pterygium syndrome [RCV000642111] Chr2:174748623 [GRCh38]
Chr2:175613351 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.345-10C>T single nucleotide variant Lethal multiple pterygium syndrome [RCV000642128] Chr2:174754424 [GRCh38]
Chr2:175619152 [GRCh37]
Chr2:2q31.1
likely benign
NC_000002.12:g.(?_174747592)_(174754414_?)del deletion Lethal multiple pterygium syndrome [RCV000536086] Chr2:174747592..174754414 [GRCh38]
Chr2:2q31.1
pathogenic
NM_000079.4(CHRNA1):c.648C>T (p.Thr216=) single nucleotide variant Lethal multiple pterygium syndrome [RCV000642130] Chr2:174753633 [GRCh38]
Chr2:175618361 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.265C>G (p.Pro89Ala) single nucleotide variant Lethal multiple pterygium syndrome [RCV000642113] Chr2:174757645 [GRCh38]
Chr2:175622373 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.-8G>A single nucleotide variant not provided [RCV000711199]|not specified [RCV000615021] Chr2:174764402 [GRCh38]
Chr2:175629130 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.13C>T (p.Pro5Ser) single nucleotide variant Lethal multiple pterygium syndrome [RCV000642117] Chr2:174764382 [GRCh38]
Chr2:175629110 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.536A>G (p.Asn179Ser) single nucleotide variant Lethal multiple pterygium syndrome [RCV000537521] Chr2:174754223 [GRCh38]
Chr2:175618951 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_000079.4(CHRNA1):c.723C>T (p.Pro241=) single nucleotide variant Congenital myasthenic syndrome [RCV001129173]|Lethal multiple pterygium syndrome [RCV001083890]|not provided [RCV000585349] Chr2:174753558 [GRCh38]
Chr2:175618286 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_000079.4(CHRNA1):c.711C>A (p.Asn237Lys) single nucleotide variant Lethal multiple pterygium syndrome [RCV000534544] Chr2:174753570 [GRCh38]
Chr2:175618298 [GRCh37]
Chr2:2q31.1
pathogenic|uncertain significance
NM_000079.4(CHRNA1):c.320G>A (p.Arg107His) single nucleotide variant Lethal multiple pterygium syndrome [RCV000642108] Chr2:174757590 [GRCh38]
Chr2:175622318 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.575A>G (p.Glu192Gly) single nucleotide variant Lethal multiple pterygium syndrome [RCV000557564] Chr2:174753706 [GRCh38]
Chr2:175618434 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.884G>C (p.Gly295Ala) single nucleotide variant not provided [RCV000585118] Chr2:174750064 [GRCh38]
Chr2:175614792 [GRCh37]
Chr2:2q31.1
likely pathogenic
NM_000079.4(CHRNA1):c.1153C>T (p.Pro385Ser) single nucleotide variant not provided [RCV000658889] Chr2:174748669 [GRCh38]
Chr2:175613397 [GRCh37]
Chr2:2q31.1
uncertain significance
GRCh37/hg19 2q31.1(chr2:171667051-176832848)x3 copy number gain not provided [RCV000682159] Chr2:171667051..176832848 [GRCh37]
Chr2:2q31.1
pathogenic
GRCh37/hg19 2q31.1-31.2(chr2:173741558-178416381)x1 copy number loss not provided [RCV000682153] Chr2:173741558..178416381 [GRCh37]
Chr2:2q31.1-31.2
pathogenic
NM_000079.4(CHRNA1):c.710A>T (p.Asn237Ile) single nucleotide variant Epilepsy [RCV000678787] Chr2:174753571 [GRCh38]
Chr2:175618299 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.686G>A (p.Arg229His) single nucleotide variant Congenital myasthenic syndrome [RCV001131857]|Lethal multiple pterygium syndrome [RCV000701779] Chr2:174753595 [GRCh38]
Chr2:175618323 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.1067A>C (p.Lys356Thr) single nucleotide variant Lethal multiple pterygium syndrome [RCV000701057] Chr2:174748755 [GRCh38]
Chr2:175613483 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.103T>G (p.Tyr35Asp) single nucleotide variant Lethal multiple pterygium syndrome [RCV000686694] Chr2:174759574 [GRCh38]
Chr2:175624302 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.280G>T (p.Gly94Cys) single nucleotide variant Lethal multiple pterygium syndrome [RCV000685192] Chr2:174757630 [GRCh38]
Chr2:175622358 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.1088C>G (p.Thr363Arg) single nucleotide variant Lethal multiple pterygium syndrome [RCV000689367] Chr2:174748734 [GRCh38]
Chr2:175613462 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.769A>G (p.Thr257Ala) single nucleotide variant Lethal multiple pterygium syndrome [RCV000689992] Chr2:174753512 [GRCh38]
Chr2:175618240 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.749G>A (p.Gly250Asp) single nucleotide variant Lethal multiple pterygium syndrome [RCV000705353] Chr2:174753532 [GRCh38]
Chr2:175618260 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.64G>A (p.Glu22Lys) single nucleotide variant Lethal multiple pterygium syndrome [RCV000698047] Chr2:174759613 [GRCh38]
Chr2:175624341 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_000079.4(CHRNA1):c.52G>C (p.Val18Leu) single nucleotide variant Lethal multiple pterygium syndrome [RCV000692243] Chr2:174759625 [GRCh38]
Chr2:175624353 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.995T>C (p.Val332Ala) single nucleotide variant CHRNA1-Related Congenital Myasthenic Syndrome [RCV000714729] Chr2:174749953 [GRCh38]
Chr2:175614681 [GRCh37]
Chr2:2q31.1
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q23.3-31.2(chr2:152409978-179325736)x3 copy number gain not provided [RCV000740654] Chr2:152409978..179325736 [GRCh37]
Chr2:2q23.3-31.2
pathogenic
GRCh37/hg19 2q31.1-31.3(chr2:174238257-181604341)x1 copy number loss not provided [RCV000740710] Chr2:174238257..181604341 [GRCh37]
Chr2:2q31.1-31.3
pathogenic
NM_000079.4(CHRNA1):c.778+316C>G single nucleotide variant not provided [RCV001567517] Chr2:174753187 [GRCh38]
Chr2:175617915 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.345-98C>T single nucleotide variant not provided [RCV001576595] Chr2:174754512 [GRCh38]
Chr2:175619240 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.44-118G>A single nucleotide variant not provided [RCV001551417] Chr2:174759751 [GRCh38]
Chr2:175624479 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.234+33T>C single nucleotide variant not provided [RCV001583719] Chr2:174759298 [GRCh38]
Chr2:175624026 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.924C>T (p.Ser308=) single nucleotide variant Lethal multiple pterygium syndrome [RCV001426021]|not provided [RCV000878687] Chr2:174750024 [GRCh38]
Chr2:175614752 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.861G>A (p.Thr287=) single nucleotide variant Lethal multiple pterygium syndrome [RCV001456385]|not provided [RCV000951378] Chr2:174750087 [GRCh38]
Chr2:175614815 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.1170C>G (p.Pro390=) single nucleotide variant Lethal multiple pterygium syndrome [RCV000877911] Chr2:174748652 [GRCh38]
Chr2:175613380 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.525C>T (p.Val175=) single nucleotide variant Lethal multiple pterygium syndrome [RCV000877330] Chr2:174754234 [GRCh38]
Chr2:175618962 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.144C>T (p.Val48=) single nucleotide variant Lethal multiple pterygium syndrome [RCV001416600]|not provided [RCV000902874] Chr2:174759533 [GRCh38]
Chr2:175624261 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.145G>A (p.Val49Met) single nucleotide variant Lethal multiple pterygium syndrome [RCV001055471] Chr2:174759532 [GRCh38]
Chr2:175624260 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.370A>T (p.Lys124Ter) single nucleotide variant Lethal multiple pterygium syndrome [RCV001070130] Chr2:174754389 [GRCh38]
Chr2:175619117 [GRCh37]
Chr2:2q31.1
pathogenic
NM_000079.4(CHRNA1):c.314T>C (p.Ile105Thr) single nucleotide variant Lethal multiple pterygium syndrome [RCV001060959] Chr2:174757596 [GRCh38]
Chr2:175622324 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.118C>A (p.Arg40=) single nucleotide variant Lethal multiple pterygium syndrome [RCV001061031] Chr2:174759559 [GRCh38]
Chr2:175624287 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.997C>G (p.Arg333Gly) single nucleotide variant Lethal multiple pterygium syndrome [RCV000820828] Chr2:174749951 [GRCh38]
Chr2:175614679 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.51C>T (p.Leu17=) single nucleotide variant Lethal multiple pterygium syndrome [RCV001437176]|not provided [RCV000877006] Chr2:174759626 [GRCh38]
Chr2:175624354 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.546C>T (p.Ser182=) single nucleotide variant Lethal multiple pterygium syndrome [RCV002064815]|not provided [RCV000875505] Chr2:174753735 [GRCh38]
Chr2:175618463 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.672C>T (p.His224=) single nucleotide variant Lethal multiple pterygium syndrome [RCV000975818] Chr2:174753609 [GRCh38]
Chr2:175618337 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.453C>T (p.Ile151=) single nucleotide variant Lethal multiple pterygium syndrome [RCV001474272]|not provided [RCV000982112] Chr2:174754306 [GRCh38]
Chr2:175619034 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.895C>T (p.Leu299=) single nucleotide variant not provided [RCV000919320] Chr2:174750053 [GRCh38]
Chr2:175614781 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.540+7G>A single nucleotide variant not provided [RCV000944200] Chr2:174754212 [GRCh38]
Chr2:175618940 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.35T>C (p.Leu12Pro) single nucleotide variant Lethal multiple pterygium syndrome [RCV000818319] Chr2:174764360 [GRCh38]
Chr2:175629088 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.1243-76T>G single nucleotide variant not provided [RCV000839611] Chr2:174748331 [GRCh38]
Chr2:175613059 [GRCh37]
Chr2:2q31.1
benign
NM_000079.4(CHRNA1):c.43+59G>T single nucleotide variant Congenital myasthenic syndrome 1A [RCV001579076]|Lethal multiple pterygium syndrome [RCV001579075]|Myasthenic syndrome, congenital, 1B, fast-channel [RCV001579077]|not provided [RCV000839856] Chr2:174764293 [GRCh38]
Chr2:175629021 [GRCh37]
Chr2:2q31.1
benign
NM_000079.4(CHRNA1):c.978T>A (p.His326Gln) single nucleotide variant Lethal multiple pterygium syndrome [RCV000809174] Chr2:174749970 [GRCh38]
Chr2:175614698 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.893T>C (p.Met298Thr) single nucleotide variant Lethal multiple pterygium syndrome [RCV000815875] Chr2:174750055 [GRCh38]
Chr2:175614783 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.1003-53A>G single nucleotide variant Congenital myasthenic syndrome 1A [RCV001579068]|Lethal multiple pterygium syndrome [RCV001579207]|Myasthenic syndrome, congenital, 1B, fast-channel [RCV001579069]|not provided [RCV000838775] Chr2:174748872 [GRCh38]
Chr2:175613600 [GRCh37]
Chr2:2q31.1
benign
NM_000079.4(CHRNA1):c.1242+139T>G single nucleotide variant not provided [RCV000838776] Chr2:174748441 [GRCh38]
Chr2:175613169 [GRCh37]
Chr2:2q31.1
benign
NM_000079.4(CHRNA1):c.1243-132C>T single nucleotide variant not provided [RCV000838777] Chr2:174748387 [GRCh38]
Chr2:175613115 [GRCh37]
Chr2:2q31.1
benign
NM_000079.4(CHRNA1):c.380_381del (p.Lys127fs) deletion Congenital myasthenic syndrome [RCV000825633] Chr2:174754378..174754379 [GRCh38]
Chr2:175619106..175619107 [GRCh37]
Chr2:2q31.1
likely pathogenic
GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1 copy number loss not provided [RCV000848216] Chr2:167329586..192756373 [GRCh37]
Chr2:2q24.3-32.3
pathogenic
GRCh37/hg19 2q31.1(chr2:175578577-175617380)x1 copy number loss not provided [RCV000848586] Chr2:175578577..175617380 [GRCh37]
Chr2:2q31.1
pathogenic
NM_000079.4(CHRNA1):c.1058C>A (p.Ser353Tyr) single nucleotide variant Lethal multiple pterygium syndrome [RCV000815483] Chr2:174748764 [GRCh38]
Chr2:175613492 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.1040C>G (p.Ser347Cys) single nucleotide variant Lethal multiple pterygium syndrome [RCV001044659] Chr2:174748782 [GRCh38]
Chr2:175613510 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.1243-3C>T single nucleotide variant Lethal multiple pterygium syndrome [RCV000821851] Chr2:174748258 [GRCh38]
Chr2:175612986 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.539C>T (p.Pro180Leu) single nucleotide variant Lethal multiple pterygium syndrome [RCV000823158] Chr2:174754220 [GRCh38]
Chr2:175618948 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.418C>T (p.Pro140Ser) single nucleotide variant Lethal multiple pterygium syndrome [RCV000823195] Chr2:174754341 [GRCh38]
Chr2:175619069 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.488G>C (p.Ser163Thr) single nucleotide variant Lethal multiple pterygium syndrome [RCV000793891] Chr2:174754271 [GRCh38]
Chr2:175618999 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.1288C>T (p.Leu430Phe) single nucleotide variant Congenital myasthenic syndrome [RCV001131737]|Lethal multiple pterygium syndrome [RCV000803435] Chr2:174748210 [GRCh38]
Chr2:175612938 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.234+296G>A single nucleotide variant not provided [RCV000826864] Chr2:174759035 [GRCh38]
Chr2:175623763 [GRCh37]
Chr2:2q31.1
benign
NM_000079.4(CHRNA1):c.*383T>C single nucleotide variant Congenital myasthenic syndrome [RCV001132647]|Lethal multiple pterygium syndrome [RCV001132646] Chr2:174747741 [GRCh38]
Chr2:175612469 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.*466G>C single nucleotide variant Congenital myasthenic syndrome [RCV001131603]|Lethal multiple pterygium syndrome [RCV001131604] Chr2:174747658 [GRCh38]
Chr2:175612386 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.77G>A (p.Arg26His) single nucleotide variant Lethal multiple pterygium syndrome [RCV000818601] Chr2:174759600 [GRCh38]
Chr2:175624328 [GRCh37]
Chr2:2q31.1
uncertain significance
NC_000002.11:g.(?_175612842)_(175629600_?)dup duplication Lethal multiple pterygium syndrome [RCV000792158] Chr2:174748114..174764872 [GRCh38]
Chr2:175612842..175629600 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.657G>C (p.Leu219=) single nucleotide variant Lethal multiple pterygium syndrome [RCV000873212] Chr2:174753624 [GRCh38]
Chr2:175618352 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.181A>C (p.Ile61Leu) single nucleotide variant Lethal multiple pterygium syndrome [RCV000800329] Chr2:174759496 [GRCh38]
Chr2:175624224 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.112G>A (p.Val38Met) single nucleotide variant Lethal multiple pterygium syndrome [RCV000802203] Chr2:174759565 [GRCh38]
Chr2:175624293 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.43+233A>G single nucleotide variant not provided [RCV000838770] Chr2:174764119 [GRCh38]
Chr2:175628847 [GRCh37]
Chr2:2q31.1
benign
NM_000079.4(CHRNA1):c.44-236C>T single nucleotide variant not provided [RCV000838771] Chr2:174759869 [GRCh38]
Chr2:175624597 [GRCh37]
Chr2:2q31.1
benign
NM_000079.4(CHRNA1):c.235-504A>G single nucleotide variant not provided [RCV000838772] Chr2:174758179 [GRCh38]
Chr2:175622907 [GRCh37]
Chr2:2q31.1
benign
NM_000079.3:c.235-385C>T single nucleotide variant not provided [RCV000838773] Chr2:175622788 [GRCh37]
Chr2:2q31.1
benign
NM_000079.4(CHRNA1):c.1242T>G (p.Asn414Lys) single nucleotide variant Lethal multiple pterygium syndrome [RCV000810729] Chr2:174748580 [GRCh38]
Chr2:175613308 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.548A>C (p.Asp183Ala) single nucleotide variant Lethal multiple pterygium syndrome [RCV000811022] Chr2:174753733 [GRCh38]
Chr2:175618461 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.344+115del deletion not provided [RCV000838774] Chr2:174757451 [GRCh38]
Chr2:175622179 [GRCh37]
Chr2:2q31.1
benign
NM_000079.4(CHRNA1):c.235-589G>T single nucleotide variant not provided [RCV000839700] Chr2:174758264 [GRCh38]
Chr2:175622992 [GRCh37]
Chr2:2q31.1
benign
NM_000079.4(CHRNA1):c.779-135G>A single nucleotide variant not provided [RCV000839701] Chr2:174750304 [GRCh38]
Chr2:175615032 [GRCh37]
Chr2:2q31.1
benign
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 copy number gain not provided [RCV001005349] Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34
pathogenic
NM_000079.4(CHRNA1):c.639C>T (p.Cys213=) single nucleotide variant Lethal multiple pterygium syndrome [RCV001446232]|not provided [RCV000975407] Chr2:174753642 [GRCh38]
Chr2:175618370 [GRCh37]
Chr2:2q31.1
likely benign
GRCh37/hg19 2q31.1(chr2:175578577-175617380)x1 copy number loss not provided [RCV000849431] Chr2:175578577..175617380 [GRCh37]
Chr2:2q31.1
pathogenic
GRCh37/hg19 2q31.1-32.1(chr2:173538954-186401606)x1 copy number loss not provided [RCV000846537] Chr2:173538954..186401606 [GRCh37]
Chr2:2q31.1-32.1
pathogenic
NM_000079.4(CHRNA1):c.844G>T (p.Glu282Ter) single nucleotide variant Lethal multiple pterygium syndrome [RCV001229186] Chr2:174750104 [GRCh38]
Chr2:175614832 [GRCh37]
Chr2:2q31.1
pathogenic
NM_000079.4(CHRNA1):c.1048A>C (p.Lys350Gln) single nucleotide variant Lethal multiple pterygium syndrome [RCV001210969] Chr2:174748774 [GRCh38]
Chr2:175613502 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.562A>C (p.Ser188Arg) single nucleotide variant Lethal multiple pterygium syndrome [RCV001226333] Chr2:174753719 [GRCh38]
Chr2:175618447 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.157G>A (p.Val53Met) single nucleotide variant Lethal multiple pterygium syndrome [RCV001240389] Chr2:174759520 [GRCh38]
Chr2:175624248 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.955C>T (p.His319Tyr) single nucleotide variant Lethal multiple pterygium syndrome [RCV001223501] Chr2:174749993 [GRCh38]
Chr2:175614721 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.547G>A (p.Asp183Asn) single nucleotide variant Lethal multiple pterygium syndrome [RCV001209753] Chr2:174753734 [GRCh38]
Chr2:175618462 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.460C>T (p.His154Tyr) single nucleotide variant Lethal multiple pterygium syndrome [RCV001235661] Chr2:174754299 [GRCh38]
Chr2:175619027 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.102C>A (p.Asp34Glu) single nucleotide variant Lethal multiple pterygium syndrome [RCV001218686] Chr2:174759575 [GRCh38]
Chr2:175624303 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.580G>A (p.Gly194Arg) single nucleotide variant Lethal multiple pterygium syndrome [RCV001210627] Chr2:174753701 [GRCh38]
Chr2:175618429 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.*218C>T single nucleotide variant Congenital myasthenic syndrome [RCV001129052]|Lethal multiple pterygium syndrome [RCV001129053]|not provided [RCV001760091] Chr2:174747906 [GRCh38]
Chr2:175612634 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_000079.4(CHRNA1):c.1255T>A (p.Trp419Arg) single nucleotide variant Congenital myasthenic syndrome [RCV001131738]|Lethal multiple pterygium syndrome [RCV001131739] Chr2:174748243 [GRCh38]
Chr2:175612971 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.345-130C>T single nucleotide variant not provided [RCV001567710] Chr2:174754544 [GRCh38]
Chr2:175619272 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.344+74G>A single nucleotide variant not provided [RCV001590247] Chr2:174757492 [GRCh38]
Chr2:175622220 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.254T>C (p.Leu85Pro) single nucleotide variant Lethal multiple pterygium syndrome [RCV001533178] Chr2:174757656 [GRCh38]
Chr2:175622384 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.779-28dup duplication not provided [RCV001598491] Chr2:174750180..174750181 [GRCh38]
Chr2:175614908..175614909 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.779-15_779-12del deletion not provided [RCV001550326] Chr2:174750181..174750184 [GRCh38]
Chr2:175614909..175614912 [GRCh37]
Chr2:2q31.1
likely benign
Single allele duplication not provided [RCV001612890] Chr2:174764691..174764692 [GRCh38]
Chr2:175629419..175629420 [GRCh37]
Chr2:2q31.1
benign
NM_000079.4(CHRNA1):c.235-422G>T single nucleotide variant not provided [RCV001717802] Chr2:174758097 [GRCh38]
Chr2:175622825 [GRCh37]
Chr2:2q31.1
benign
NM_000079.4(CHRNA1):c.1242+143C>G single nucleotide variant not provided [RCV001649870] Chr2:174748437 [GRCh38]
Chr2:175613165 [GRCh37]
Chr2:2q31.1
benign
NM_000079.4(CHRNA1):c.44-326GT[20] microsatellite not provided [RCV001686211] Chr2:174759929..174759930 [GRCh38]
Chr2:175624657..175624658 [GRCh37]
Chr2:2q31.1
benign
NM_000079.4(CHRNA1):c.190-13dup duplication Lethal multiple pterygium syndrome [RCV001514577]|not provided [RCV000952336] Chr2:174759379..174759380 [GRCh38]
Chr2:175624107..175624108 [GRCh37]
Chr2:2q31.1
benign
NM_000079.4(CHRNA1):c.579C>T (p.Ser193=) single nucleotide variant Lethal multiple pterygium syndrome [RCV001484658]|not provided [RCV000893918] Chr2:174753702 [GRCh38]
Chr2:175618430 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.1143C>T (p.Gly381=) single nucleotide variant Lethal multiple pterygium syndrome [RCV001490179]|not provided [RCV000979356] Chr2:174748679 [GRCh38]
Chr2:175613407 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.1064A>G (p.Glu355Gly) single nucleotide variant Lethal multiple pterygium syndrome [RCV000876516] Chr2:174748758 [GRCh38]
Chr2:175613486 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.618C>T (p.His206=) single nucleotide variant not provided [RCV000932268] Chr2:174753663 [GRCh38]
Chr2:175618391 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.*499A>T single nucleotide variant Congenital myasthenic syndrome [RCV001131602]|Lethal multiple pterygium syndrome [RCV001131601] Chr2:174747625 [GRCh38]
Chr2:175612353 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.802T>C (p.Ser268Pro) single nucleotide variant Lethal multiple pterygium syndrome [RCV001236676] Chr2:174750146 [GRCh38]
Chr2:175614874 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.779-1_779insA insertion Lethal multiple pterygium syndrome [RCV001036947] Chr2:174750169..174750170 [GRCh38]
Chr2:175614897..175614898 [GRCh37]
Chr2:2q31.1
likely pathogenic
NM_000079.4(CHRNA1):c.271G>A (p.Asp91Asn) single nucleotide variant Lethal multiple pterygium syndrome [RCV001231188] Chr2:174757639 [GRCh38]
Chr2:175622367 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.594C>G (p.Ile198Met) single nucleotide variant Lethal multiple pterygium syndrome [RCV001214017] Chr2:174753687 [GRCh38]
Chr2:175618415 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.530C>A (p.Ala177Asp) single nucleotide variant Lethal multiple pterygium syndrome [RCV001224774] Chr2:174754229 [GRCh38]
Chr2:175618957 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.801C>T (p.Ile267=) single nucleotide variant Lethal multiple pterygium syndrome [RCV000935530] Chr2:174750147 [GRCh38]
Chr2:175614875 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.1003-12_1003-8del deletion Lethal multiple pterygium syndrome [RCV001438142]|not provided [RCV000934782] Chr2:174748827..174748831 [GRCh38]
Chr2:175613555..175613559 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.1003-9T>C single nucleotide variant Lethal multiple pterygium syndrome [RCV000911433] Chr2:174748828 [GRCh38]
Chr2:175613556 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.1002+58C>T single nucleotide variant not provided [RCV001717801] Chr2:174749888 [GRCh38]
Chr2:175614616 [GRCh37]
Chr2:2q31.1
benign
GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1 copy number loss 2q24 microdeletion syndrome [RCV001263223] Chr2:163078055..182119617 [GRCh37]
Chr2:2q24.2-31.3
pathogenic
NM_000079.4(CHRNA1):c.44-326GT[18] microsatellite not provided [RCV001619185] Chr2:174759929..174759930 [GRCh38]
Chr2:175624657..175624658 [GRCh37]
Chr2:2q31.1
benign
GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1 copy number loss not provided [RCV001005359] Chr2:174690039..195521582 [GRCh37]
Chr2:2q31.1-32.3
pathogenic
NM_000079.4(CHRNA1):c.44-235G>A single nucleotide variant not provided [RCV001598335] Chr2:174759868 [GRCh38]
Chr2:175624596 [GRCh37]
Chr2:2q31.1
benign
NM_000079.4(CHRNA1):c.344+317G>A single nucleotide variant not provided [RCV001641215] Chr2:174757249 [GRCh38]
Chr2:175621977 [GRCh37]
Chr2:2q31.1
benign
NM_000079.4(CHRNA1):c.805G>C (p.Val269Leu) single nucleotide variant Congenital myasthenic syndrome [RCV001129171]|Lethal multiple pterygium syndrome [RCV001129172] Chr2:174750143 [GRCh38]
Chr2:175614871 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.450C>G (p.Ile150Met) single nucleotide variant Lethal multiple pterygium syndrome [RCV001065718] Chr2:174754309 [GRCh38]
Chr2:175619037 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.44-326GT[13] microsatellite not provided [RCV001613797] Chr2:174759930..174759933 [GRCh38]
Chr2:175624658..175624661 [GRCh37]
Chr2:2q31.1
benign
Single allele single nucleotide variant not provided [RCV001590426] Chr2:174764492 [GRCh38]
Chr2:175629220 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.779-14_779-12del deletion not provided [RCV001696065] Chr2:174750181..174750183 [GRCh38]
Chr2:175614909..175614911 [GRCh37]
Chr2:2q31.1
benign
NM_000079.4(CHRNA1):c.1002+273C>T single nucleotide variant not provided [RCV001609875] Chr2:174749673 [GRCh38]
Chr2:175614401 [GRCh37]
Chr2:2q31.1
benign
NM_000079.4(CHRNA1):c.43+216T>C single nucleotide variant not provided [RCV001612140] Chr2:174764136 [GRCh38]
Chr2:175628864 [GRCh37]
Chr2:2q31.1
benign
NM_000079.4(CHRNA1):c.43+195C>G single nucleotide variant not provided [RCV001682052] Chr2:174764157 [GRCh38]
Chr2:175628885 [GRCh37]
Chr2:2q31.1
benign
NM_000079.4(CHRNA1):c.344+236A>T single nucleotide variant not provided [RCV001692755] Chr2:174757330 [GRCh38]
Chr2:175622058 [GRCh37]
Chr2:2q31.1
benign
NM_000079.4(CHRNA1):c.44-326GT[14] microsatellite not provided [RCV001707042] Chr2:174759930..174759931 [GRCh38]
Chr2:175624658..175624659 [GRCh37]
Chr2:2q31.1
benign
NM_000079.4(CHRNA1):c.*310C>T single nucleotide variant Congenital myasthenic syndrome [RCV001136019]|Lethal multiple pterygium syndrome [RCV001136020] Chr2:174747814 [GRCh38]
Chr2:175612542 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.76C>T (p.Arg26Cys) single nucleotide variant Congenital myasthenic syndrome [RCV001136249]|Lethal multiple pterygium syndrome [RCV001136250] Chr2:174759601 [GRCh38]
Chr2:175624329 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.962G>A (p.Arg321His) single nucleotide variant Congenital myasthenic syndrome [RCV001136149]|Lethal multiple pterygium syndrome [RCV001136150] Chr2:174749986 [GRCh38]
Chr2:175614714 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.*101C>T single nucleotide variant Congenital myasthenic syndrome [RCV001129057]|Lethal multiple pterygium syndrome [RCV001129056] Chr2:174748023 [GRCh38]
Chr2:175612751 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.711C>T (p.Asn237=) single nucleotide variant Congenital myasthenic syndrome [RCV001129175]|Lethal multiple pterygium syndrome [RCV001129174] Chr2:174753570 [GRCh38]
Chr2:175618298 [GRCh37]
Chr2:2q31.1
conflicting interpretations of pathogenicity|uncertain significance
NM_000079.4(CHRNA1):c.766C>A (p.Pro256Thr) single nucleotide variant Congenital myasthenic syndrome 1A [RCV001196948] Chr2:174753515 [GRCh38]
Chr2:175618243 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.1221G>T (p.Lys407Asn) single nucleotide variant Lethal multiple pterygium syndrome [RCV001231739] Chr2:174748601 [GRCh38]
Chr2:175613329 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.1003-3T>C single nucleotide variant Lethal multiple pterygium syndrome [RCV001069169] Chr2:174748822 [GRCh38]
Chr2:175613550 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.137G>A (p.Arg46His) single nucleotide variant Lethal multiple pterygium syndrome [RCV001054312] Chr2:174759540 [GRCh38]
Chr2:175624268 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.2T>C (p.Met1Thr) single nucleotide variant Congenital myasthenic syndrome [RCV001136252]|Lethal multiple pterygium syndrome [RCV001136251]|not provided [RCV001564791] Chr2:174764393 [GRCh38]
Chr2:175629121 [GRCh37]
Chr2:2q31.1
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000079.4(CHRNA1):c.746C>G (p.Thr249Ser) single nucleotide variant Lethal multiple pterygium syndrome [RCV001036405] Chr2:174753535 [GRCh38]
Chr2:175618263 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.*130A>T single nucleotide variant Congenital myasthenic syndrome [RCV001129055]|Lethal multiple pterygium syndrome [RCV001129054] Chr2:174747994 [GRCh38]
Chr2:175612722 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.189+4A>T single nucleotide variant Lethal multiple pterygium syndrome [RCV001233552] Chr2:174759484 [GRCh38]
Chr2:175624212 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.706G>A (p.Val236Ile) single nucleotide variant Lethal multiple pterygium syndrome [RCV001048554] Chr2:174753575 [GRCh38]
Chr2:175618303 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.119G>A (p.Arg40Gln) single nucleotide variant Lethal multiple pterygium syndrome [RCV001879969]|Pleural effusion [RCV001257364] Chr2:174759558 [GRCh38]
Chr2:175624286 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.44-326GT[16] microsatellite not provided [RCV001641860] Chr2:174759929..174759930 [GRCh38]
Chr2:175624657..175624658 [GRCh37]
Chr2:2q31.1
benign
NC_000002.11:g.(?_175612842)_(175629600_?)dup duplication Lethal multiple pterygium syndrome [RCV001313156] Chr2:175612842..175629600 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.345-7A>G single nucleotide variant Lethal multiple pterygium syndrome [RCV001299114] Chr2:174754421 [GRCh38]
Chr2:175619149 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.1162A>C (p.Lys388Gln) single nucleotide variant Lethal multiple pterygium syndrome [RCV001296854] Chr2:174748660 [GRCh38]
Chr2:175613388 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.1079del (p.Lys360fs) deletion Lethal multiple pterygium syndrome [RCV001292668] Chr2:174748743 [GRCh38]
Chr2:175613471 [GRCh37]
Chr2:2q31.1
pathogenic
NM_000079.4(CHRNA1):c.905T>A (p.Met302Lys) single nucleotide variant Lethal multiple pterygium syndrome [RCV001359757] Chr2:174750043 [GRCh38]
Chr2:175614771 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.189+18G>A single nucleotide variant Lethal multiple pterygium syndrome [RCV001422440] Chr2:174759470 [GRCh38]
Chr2:175624198 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.439T>C (p.Tyr147His) single nucleotide variant Lethal multiple pterygium syndrome [RCV001349741] Chr2:174754320 [GRCh38]
Chr2:175619048 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.1245G>A (p.Ala415=) single nucleotide variant Lethal multiple pterygium syndrome [RCV001373709] Chr2:174748253 [GRCh38]
Chr2:175612981 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.419C>T (p.Pro140Leu) single nucleotide variant Lethal multiple pterygium syndrome [RCV001364105] Chr2:174754340 [GRCh38]
Chr2:175619068 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.1266T>A (p.Val422=) single nucleotide variant Lethal multiple pterygium syndrome [RCV001336627] Chr2:174748232 [GRCh38]
Chr2:175612960 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.7C>T (p.Pro3Ser) single nucleotide variant Lethal multiple pterygium syndrome [RCV001347114] Chr2:174764388 [GRCh38]
Chr2:175629116 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.1003-10T>A single nucleotide variant Lethal multiple pterygium syndrome [RCV001361484] Chr2:174748829 [GRCh38]
Chr2:175613557 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.1045A>G (p.Met349Val) single nucleotide variant Lethal multiple pterygium syndrome [RCV001315163] Chr2:174748777 [GRCh38]
Chr2:175613505 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.838A>G (p.Ile280Val) single nucleotide variant Lethal multiple pterygium syndrome [RCV001362231] Chr2:174750110 [GRCh38]
Chr2:175614838 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.454G>A (p.Val152Ile) single nucleotide variant Lethal multiple pterygium syndrome [RCV001319744] Chr2:174754305 [GRCh38]
Chr2:175619033 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.841G>A (p.Val281Met) single nucleotide variant Lethal multiple pterygium syndrome [RCV001366275] Chr2:174750107 [GRCh38]
Chr2:175614835 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.600G>A (p.Glu200=) single nucleotide variant Lethal multiple pterygium syndrome [RCV001394580] Chr2:174753681 [GRCh38]
Chr2:175618409 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.280G>A (p.Gly94Ser) single nucleotide variant Lethal multiple pterygium syndrome [RCV001365451] Chr2:174757630 [GRCh38]
Chr2:175622358 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.901A>G (p.Thr301Ala) single nucleotide variant Lethal multiple pterygium syndrome [RCV001308087] Chr2:174750047 [GRCh38]
Chr2:175614775 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.124G>T (p.Val42Leu) single nucleotide variant Lethal multiple pterygium syndrome [RCV001365871] Chr2:174759553 [GRCh38]
Chr2:175624281 [GRCh37]
Chr2:2q31.1
uncertain significance
GRCh37/hg19 2q31.1-31.3(chr2:171999572-182774361) copy number loss 3-4 finger syndactyly [RCV001352646] Chr2:171999572..182774361 [GRCh37]
Chr2:2q31.1-31.3
pathogenic
NM_000079.4(CHRNA1):c.1184C>T (p.Ala395Val) single nucleotide variant Lethal multiple pterygium syndrome [RCV001468398] Chr2:174748638 [GRCh38]
Chr2:175613366 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.675C>T (p.Phe225=) single nucleotide variant Lethal multiple pterygium syndrome [RCV001426988] Chr2:174753606 [GRCh38]
Chr2:175618334 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.642C>T (p.Pro214=) single nucleotide variant Lethal multiple pterygium syndrome [RCV001461230] Chr2:174753639 [GRCh38]
Chr2:175618367 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.942C>T (p.Ile314=) single nucleotide variant Lethal multiple pterygium syndrome [RCV001449020] Chr2:174750006 [GRCh38]
Chr2:175614734 [GRCh37]
Chr2:2q31.1
likely benign
NC_000002.11:g.(?_175612832)_(175619162_?)del deletion Lethal multiple pterygium syndrome [RCV001390370] Chr2:175612832..175619162 [GRCh37]
Chr2:2q31.1
pathogenic
NM_000079.4(CHRNA1):c.372G>A (p.Lys124=) single nucleotide variant Lethal multiple pterygium syndrome [RCV001445688] Chr2:174754387 [GRCh38]
Chr2:175619115 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.44-9C>A single nucleotide variant Lethal multiple pterygium syndrome [RCV001411560] Chr2:174759642 [GRCh38]
Chr2:175624370 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.327C>T (p.Asp109=) single nucleotide variant Lethal multiple pterygium syndrome [RCV001409201] Chr2:174757583 [GRCh38]
Chr2:175622311 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.279C>T (p.Gly93=) single nucleotide variant Lethal multiple pterygium syndrome [RCV001502339] Chr2:174757631 [GRCh38]
Chr2:175622359 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.344+282G>A single nucleotide variant not provided [RCV001645302] Chr2:174757284 [GRCh38]
Chr2:175622012 [GRCh37]
Chr2:2q31.1
benign
NM_000079.4(CHRNA1):c.927C>A (p.Ile309=) single nucleotide variant Lethal multiple pterygium syndrome [RCV001502727] Chr2:174750021 [GRCh38]
Chr2:175614749 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.1003-8T>C single nucleotide variant Lethal multiple pterygium syndrome [RCV001487037] Chr2:174748827 [GRCh38]
Chr2:175613555 [GRCh37]
Chr2:2q31.1
likely benign
Single allele single nucleotide variant not provided [RCV001612086] Chr2:174764675 [GRCh38]
Chr2:175629403 [GRCh37]
Chr2:2q31.1
benign
NM_000079.4(CHRNA1):c.344+236dup duplication not provided [RCV001616919] Chr2:174757319..174757320 [GRCh38]
Chr2:175622047..175622048 [GRCh37]
Chr2:2q31.1
benign
NM_000079.4(CHRNA1):c.1194C>A (p.Gly398=) single nucleotide variant Lethal multiple pterygium syndrome [RCV001497670] Chr2:174748628 [GRCh38]
Chr2:175613356 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.945C>T (p.Val315=) single nucleotide variant Lethal multiple pterygium syndrome [RCV001470529] Chr2:174750003 [GRCh38]
Chr2:175614731 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.324A>C (p.Pro108=) single nucleotide variant Lethal multiple pterygium syndrome [RCV001469228] Chr2:174757586 [GRCh38]
Chr2:175622314 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.813G>C (p.Leu271=) single nucleotide variant Lethal multiple pterygium syndrome [RCV001479104] Chr2:174750135 [GRCh38]
Chr2:175614863 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.292dup (p.Ile98fs) duplication Lethal multiple pterygium syndrome [RCV001384441]|not provided [RCV001780334] Chr2:174757617..174757618 [GRCh38]
Chr2:175622345..175622346 [GRCh37]
Chr2:2q31.1
pathogenic
NM_000079.4(CHRNA1):c.44-10G>T single nucleotide variant Lethal multiple pterygium syndrome [RCV001424692] Chr2:174759643 [GRCh38]
Chr2:175624371 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.778+145C>T single nucleotide variant not provided [RCV001732728] Chr2:174753358 [GRCh38]
Chr2:175618086 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.235-518C>G single nucleotide variant not provided [RCV001732264] Chr2:174758193 [GRCh38]
Chr2:175622921 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.235-8del deletion not provided [RCV001786288] Chr2:174757683 [GRCh38]
Chr2:175622411 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.166C>T (p.Gln56Ter) single nucleotide variant not provided [RCV001780776] Chr2:174759511 [GRCh38]
Chr2:175624239 [GRCh37]
Chr2:2q31.1
likely pathogenic
NM_000079.4(CHRNA1):c.779G>A (p.Gly260Glu) single nucleotide variant not provided [RCV001779556] Chr2:174750169 [GRCh38]
Chr2:175614897 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.1002+120C>T single nucleotide variant not provided [RCV001733126] Chr2:174749826 [GRCh38]
Chr2:175614554 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.779-2A>C single nucleotide variant not provided [RCV001780778] Chr2:174750171 [GRCh38]
Chr2:175614899 [GRCh37]
Chr2:2q31.1
likely pathogenic
NM_000079.4(CHRNA1):c.772G>C (p.Asp258His) single nucleotide variant not provided [RCV001786941] Chr2:174753509 [GRCh38]
Chr2:175618237 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.779-124C>T single nucleotide variant not provided [RCV001764027] Chr2:174750293 [GRCh38]
Chr2:175615021 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.265C>T (p.Pro89Ser) single nucleotide variant not provided [RCV001779615] Chr2:174757645 [GRCh38]
Chr2:175622373 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.338A>G (p.Tyr113Cys) single nucleotide variant not provided [RCV001758727] Chr2:174757572 [GRCh38]
Chr2:175622300 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.344+6C>A single nucleotide variant Lethal multiple pterygium syndrome [RCV001896688] Chr2:174757560 [GRCh38]
Chr2:175622288 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.273C>G (p.Asp91Glu) single nucleotide variant Lethal multiple pterygium syndrome [RCV002025041] Chr2:174757637 [GRCh38]
Chr2:175622365 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.1171G>A (p.Glu391Lys) single nucleotide variant Lethal multiple pterygium syndrome [RCV001915501] Chr2:174748651 [GRCh38]
Chr2:175613379 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.640C>T (p.Pro214Ser) single nucleotide variant Lethal multiple pterygium syndrome [RCV002009007] Chr2:174753641 [GRCh38]
Chr2:175618369 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.860C>T (p.Thr287Met) single nucleotide variant Lethal multiple pterygium syndrome [RCV002043782] Chr2:174750088 [GRCh38]
Chr2:175614816 [GRCh37]
Chr2:2q31.1
uncertain significance
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436) copy number gain not specified [RCV002053265] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35
pathogenic
NM_000079.4(CHRNA1):c.399T>A (p.Thr133=) single nucleotide variant Lethal multiple pterygium syndrome [RCV002002037] Chr2:174754360 [GRCh38]
Chr2:175619088 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.1003-12T>A single nucleotide variant Lethal multiple pterygium syndrome [RCV001968345] Chr2:174748831 [GRCh38]
Chr2:175613559 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.984G>A (p.Met328Ile) single nucleotide variant Lethal multiple pterygium syndrome [RCV001913937] Chr2:174749964 [GRCh38]
Chr2:175614692 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.118C>T (p.Arg40Trp) single nucleotide variant Lethal multiple pterygium syndrome [RCV001910156] Chr2:174759559 [GRCh38]
Chr2:175624287 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.685C>T (p.Arg229Cys) single nucleotide variant Lethal multiple pterygium syndrome [RCV001844328] Chr2:174753596 [GRCh38]
Chr2:175618324 [GRCh37]
Chr2:2q31.1
uncertain significance
GRCh37/hg19 2q31.1(chr2:174673094-177275625)x3 copy number gain not provided [RCV001825257] Chr2:174673094..177275625 [GRCh37]
Chr2:2q31.1
not provided
NM_000079.4(CHRNA1):c.52G>A (p.Val18Ile) single nucleotide variant Lethal multiple pterygium syndrome [RCV002035067] Chr2:174759625 [GRCh38]
Chr2:175624353 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.745A>C (p.Thr249Pro) single nucleotide variant Lethal multiple pterygium syndrome [RCV002046990] Chr2:174753536 [GRCh38]
Chr2:175618264 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.935C>A (p.Thr312Asn) single nucleotide variant Lethal multiple pterygium syndrome [RCV001944867] Chr2:174750013 [GRCh38]
Chr2:175614741 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.1182T>A (p.Ser394Arg) single nucleotide variant Lethal multiple pterygium syndrome [RCV001944109] Chr2:174748640 [GRCh38]
Chr2:175613368 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.298A>T (p.Ile100Phe) single nucleotide variant Lethal multiple pterygium syndrome [RCV002038310] Chr2:174757612 [GRCh38]
Chr2:175622340 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.919G>A (p.Ala307Thr) single nucleotide variant Lethal multiple pterygium syndrome [RCV001886931] Chr2:174750029 [GRCh38]
Chr2:175614757 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.878T>C (p.Leu293Ser) single nucleotide variant Lethal multiple pterygium syndrome [RCV002027053] Chr2:174750070 [GRCh38]
Chr2:175614798 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.1334T>A (p.Val445Glu) single nucleotide variant Lethal multiple pterygium syndrome [RCV001989920] Chr2:174748164 [GRCh38]
Chr2:175612892 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.1006T>G (p.Phe336Val) single nucleotide variant Lethal multiple pterygium syndrome [RCV001923052] Chr2:174748816 [GRCh38]
Chr2:175613544 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.249C>A (p.Tyr83Ter) single nucleotide variant Lethal multiple pterygium syndrome [RCV001934247] Chr2:174757661 [GRCh38]
Chr2:175622389 [GRCh37]
Chr2:2q31.1
pathogenic
NM_000079.4(CHRNA1):c.44-5C>G single nucleotide variant Lethal multiple pterygium syndrome [RCV001994063] Chr2:174759638 [GRCh38]
Chr2:175624366 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.548A>T (p.Asp183Val) single nucleotide variant Lethal multiple pterygium syndrome [RCV001903313] Chr2:174753733 [GRCh38]
Chr2:175618461 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.1097T>C (p.Ile366Thr) single nucleotide variant Lethal multiple pterygium syndrome [RCV001902744] Chr2:174748725 [GRCh38]
Chr2:175613453 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.283G>A (p.Val95Met) single nucleotide variant Lethal multiple pterygium syndrome [RCV002016509] Chr2:174757627 [GRCh38]
Chr2:175622355 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.750C>T (p.Gly250=) single nucleotide variant Lethal multiple pterygium syndrome [RCV002013986] Chr2:174753531 [GRCh38]
Chr2:175618259 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.1047G>A (p.Met349Ile) single nucleotide variant Lethal multiple pterygium syndrome [RCV001979966] Chr2:174748775 [GRCh38]
Chr2:175613503 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.177G>C (p.Gln59His) single nucleotide variant Lethal multiple pterygium syndrome [RCV002030693] Chr2:174759500 [GRCh38]
Chr2:175624228 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.514G>A (p.Asp172Asn) single nucleotide variant Lethal multiple pterygium syndrome [RCV001951932] Chr2:174754245 [GRCh38]
Chr2:175618973 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.484T>C (p.Cys162Arg) single nucleotide variant Lethal multiple pterygium syndrome [RCV001997738] Chr2:174754275 [GRCh38]
Chr2:175619003 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.451A>T (p.Ile151Phe) single nucleotide variant Lethal multiple pterygium syndrome [RCV001954632] Chr2:174754308 [GRCh38]
Chr2:175619036 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.653A>C (p.Tyr218Ser) single nucleotide variant Lethal multiple pterygium syndrome [RCV001922699] Chr2:174753628 [GRCh38]
Chr2:175618356 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.1244C>T (p.Ala415Val) single nucleotide variant Lethal multiple pterygium syndrome [RCV001991513] Chr2:174748254 [GRCh38]
Chr2:175612982 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.1318A>G (p.Ile440Val) single nucleotide variant Lethal multiple pterygium syndrome [RCV001902275] Chr2:174748180 [GRCh38]
Chr2:175612908 [GRCh37]
Chr2:2q31.1
uncertain significance
NC_000002.11:g.(?_175612852)_(175629122_?)del deletion Lethal multiple pterygium syndrome [RCV001960680] Chr2:175612852..175629122 [GRCh37]
Chr2:2q31.1
pathogenic
NM_000079.4(CHRNA1):c.902C>A (p.Thr301Asn) single nucleotide variant Lethal multiple pterygium syndrome [RCV001898887] Chr2:174750046 [GRCh38]
Chr2:175614774 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.449T>G (p.Ile150Ser) single nucleotide variant Lethal multiple pterygium syndrome [RCV002018496] Chr2:174754310 [GRCh38]
Chr2:175619038 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.1264G>A (p.Val422Ile) single nucleotide variant Lethal multiple pterygium syndrome [RCV001885945] Chr2:174748234 [GRCh38]
Chr2:175612962 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.824T>C (p.Val275Ala) single nucleotide variant Lethal multiple pterygium syndrome [RCV001903885] Chr2:174750124 [GRCh38]
Chr2:175614852 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.1053A>C (p.Arg351Ser) single nucleotide variant Lethal multiple pterygium syndrome [RCV001881361] Chr2:174748769 [GRCh38]
Chr2:175613497 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.1021C>T (p.Pro341Ser) single nucleotide variant Lethal multiple pterygium syndrome [RCV001922732] Chr2:174748801 [GRCh38]
Chr2:175613529 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000079.4(CHRNA1):c.1329A>T (p.Leu443=) single nucleotide variant Lethal multiple pterygium syndrome [RCV002168572] Chr2:174748169 [GRCh38]
Chr2:175612897 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.344+14A>G single nucleotide variant Lethal multiple pterygium syndrome [RCV002170149] Chr2:174757552 [GRCh38]
Chr2:175622280 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.345-14T>A single nucleotide variant Lethal multiple pterygium syndrome [RCV002127633] Chr2:174754428 [GRCh38]
Chr2:175619156 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.676G>A (p.Val226Ile) single nucleotide variant Lethal multiple pterygium syndrome [RCV002208032] Chr2:174753605 [GRCh38]
Chr2:175618333 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.235-9dup duplication Lethal multiple pterygium syndrome [RCV002090143] Chr2:174757683..174757684 [GRCh38]
Chr2:175622411..175622412 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.648C>G (p.Thr216=) single nucleotide variant Lethal multiple pterygium syndrome [RCV002108505] Chr2:174753633 [GRCh38]
Chr2:175618361 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.344+12G>C single nucleotide variant Lethal multiple pterygium syndrome [RCV002088991] Chr2:174757554 [GRCh38]
Chr2:175622282 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.840C>T (p.Ile280=) single nucleotide variant Lethal multiple pterygium syndrome [RCV002205751] Chr2:174750108 [GRCh38]
Chr2:175614836 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.235-18G>A single nucleotide variant Lethal multiple pterygium syndrome [RCV002088741] Chr2:174757693 [GRCh38]
Chr2:175622421 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.189+16T>A single nucleotide variant Lethal multiple pterygium syndrome [RCV002125576] Chr2:174759472 [GRCh38]
Chr2:175624200 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.541-12T>C single nucleotide variant Lethal multiple pterygium syndrome [RCV002197424] Chr2:174753752 [GRCh38]
Chr2:175618480 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.1002+17C>G single nucleotide variant Lethal multiple pterygium syndrome [RCV002111662] Chr2:174749929 [GRCh38]
Chr2:175614657 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.345-19T>A single nucleotide variant Lethal multiple pterygium syndrome [RCV002108501] Chr2:174754433 [GRCh38]
Chr2:175619161 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.1314C>T (p.Cys438=) single nucleotide variant Lethal multiple pterygium syndrome [RCV002165232] Chr2:174748184 [GRCh38]
Chr2:175612912 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.189+7_189+8insCCT insertion Lethal multiple pterygium syndrome [RCV002131528] Chr2:174759480..174759481 [GRCh38]
Chr2:175624208..175624209 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.330T>C (p.Leu110=) single nucleotide variant Lethal multiple pterygium syndrome [RCV002093576] Chr2:174757580 [GRCh38]
Chr2:175622308 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.303T>C (p.Pro101=) single nucleotide variant Lethal multiple pterygium syndrome [RCV002148261] Chr2:174757607 [GRCh38]
Chr2:175622335 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.1269A>G (p.Ala423=) single nucleotide variant Lethal multiple pterygium syndrome [RCV002171376] Chr2:174748229 [GRCh38]
Chr2:175612957 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.735C>T (p.Phe245=) single nucleotide variant Lethal multiple pterygium syndrome [RCV002093168] Chr2:174753546 [GRCh38]
Chr2:175618274 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.63C>T (p.Ser21=) single nucleotide variant Lethal multiple pterygium syndrome [RCV002202431] Chr2:174759614 [GRCh38]
Chr2:175624342 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.235-19T>C single nucleotide variant Lethal multiple pterygium syndrome [RCV002135388] Chr2:174757694 [GRCh38]
Chr2:175622422 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.778+18G>A single nucleotide variant Lethal multiple pterygium syndrome [RCV002220537] Chr2:174753485 [GRCh38]
Chr2:175618213 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.541-15del deletion Lethal multiple pterygium syndrome [RCV002181777] Chr2:174753755 [GRCh38]
Chr2:175618483 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.270T>C (p.Asp90=) single nucleotide variant Lethal multiple pterygium syndrome [RCV002200835] Chr2:174757640 [GRCh38]
Chr2:175622368 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.190-18C>T single nucleotide variant Lethal multiple pterygium syndrome [RCV002199620] Chr2:174759393 [GRCh38]
Chr2:175624121 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.1284C>T (p.His428=) single nucleotide variant Lethal multiple pterygium syndrome [RCV002104127] Chr2:174748214 [GRCh38]
Chr2:175612942 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.1003-9T>A single nucleotide variant Lethal multiple pterygium syndrome [RCV002122454] Chr2:174748828 [GRCh38]
Chr2:175613556 [GRCh37]
Chr2:2q31.1
likely benign
NM_000079.4(CHRNA1):c.828C>T (p.Phe276=) single nucleotide variant Lethal multiple pterygium syndrome [RCV002119730] Chr2:174750120 [GRCh38]
Chr2:175614848 [GRCh37]
Chr2:2q31.1
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1955 AgrOrtholog
COSMIC CHRNA1 COSMIC
Ensembl Genes ENSG00000138435 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000261007 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000261008 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000386611 UniProtKB/TrEMBL
  ENSP00000386684 UniProtKB/TrEMBL
  ENSP00000387026 UniProtKB/TrEMBL
  ENSP00000395805 UniProtKB/TrEMBL
  ENSP00000490338 UniProtKB/TrEMBL
  ENSP00000500507 UniProtKB/TrEMBL
Ensembl Transcript ENST00000261007 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000348749 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000409219 UniProtKB/TrEMBL
  ENST00000409323 UniProtKB/TrEMBL
  ENST00000409542 UniProtKB/TrEMBL
  ENST00000435083 UniProtKB/TrEMBL
  ENST00000636168 UniProtKB/TrEMBL
  ENST00000672640 UniProtKB/TrEMBL
Gene3D-CATH 1.20.58.390 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.70.170.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000138435 GTEx
HGNC ID HGNC:1955 ENTREZGENE
Human Proteome Map CHRNA1 Human Proteome Map
InterPro Neur_chan_lig-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neur_chan_lig-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neur_channel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neuro-gated_channel_TM_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neuro_actylchol_rec UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neurotrans-gated_channel_TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neurotransmitter_ion_chnl_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nicotinic_acetylcholine_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1134 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 1134 ENTREZGENE
OMIM 100690 OMIM
  253290 OMIM
  601462 OMIM
  608930 OMIM
PANTHER PTHR18945 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Neur_chan_LBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neur_chan_memb UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26487 PharmGKB
PRINTS NICOTINICR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NRIONCHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE NEUROTR_ION_CHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF63712 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF90112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs LIC UniProtKB/TrEMBL
UniProt A0A1B0GV17_HUMAN UniProtKB/TrEMBL
  ACHA_HUMAN UniProtKB/Swiss-Prot
  B8ZZD3_HUMAN UniProtKB/TrEMBL
  E7ENE5_HUMAN UniProtKB/TrEMBL
  F8WDS3_HUMAN UniProtKB/TrEMBL
  G5E9G9_HUMAN UniProtKB/TrEMBL
  P02708 ENTREZGENE
  Q53SH4 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B4DRV6 UniProtKB/Swiss-Prot
  D3DPE7 UniProtKB/TrEMBL
  D3DPE8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 CHRNA1  cholinergic receptor nicotinic alpha 1 subunit    cholinergic receptor, nicotinic alpha 1  Symbol and/or name change 5135510 APPROVED
2015-11-17 CHRNA1  cholinergic receptor, nicotinic alpha 1    cholinergic receptor, nicotinic, alpha 1  Symbol and/or name change 5135510 APPROVED
2015-11-10 CHRNA1  cholinergic receptor, nicotinic, alpha 1    cholinergic receptor, nicotinic, alpha 1 (muscle)  Symbol and/or name change 5135510 APPROVED
2011-08-16 CHRNA1  cholinergic receptor, nicotinic, alpha 1 (muscle)  CHRNA1  cholinergic receptor, nicotinic, alpha 1 (muscle)  Symbol and/or name change 5135510 APPROVED