GJA3 (gap junction protein alpha 3) - Rat Genome Database

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Gene: GJA3 (gap junction protein alpha 3) Homo sapiens
Analyze
Symbol: GJA3
Name: gap junction protein alpha 3
RGD ID: 1349664
HGNC Page HGNC:4277
Description: Enables gap junction hemi-channel activity. Involved in gap junction-mediated intercellular transport. Located in plasma membrane. Part of connexin complex. Implicated in cataract 14 multiple types.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cataract, zonular pulverulent 2; connexin 46; connexin-46; CTRCT14; CX46; CZP2; CZP3; gap junction alpha 3; gap junction alpha-3 protein; gap junction protein, alpha 3, 46kDa; gap junction protein, alpha 3, 46kda (connexin 46)
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381320,138,255 - 20,161,565 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1320,138,255 - 20,161,052 (-)EnsemblGRCh38hg38GRCh38
GRCh371320,712,394 - 20,735,191 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361319,610,394 - 19,633,183 (-)NCBINCBI36Build 36hg18NCBI36
Build 341319,614,119 - 19,615,427NCBI
Celera131,774,203 - 1,796,991 (-)NCBICelera
Cytogenetic Map13q12.11NCBI
HuRef131,517,843 - 1,540,632 (-)NCBIHuRef
CHM1_11320,680,889 - 20,703,688 (-)NCBICHM1_1
T2T-CHM13v2.01319,334,689 - 19,357,997 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
connexin complex  (IBA,IDA,IEA)
gap junction  (IEA,ISO)
plasma membrane  (IDA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. A novel connexin46 (GJA3) mutation in autosomal dominant congenital nuclear pulverulent cataract. Li Y, etal., Mol Vis. 2004 Sep 14;10:668-71.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
7. New genetic model rat for congenital cataracts due to a connexin 46 (Gja3 ) mutation. Yoshida M, etal., Pathol Int. 2005 Nov;55(11):732-7.
Additional References at PubMed
PMID:1849321   PMID:1964417   PMID:7342922   PMID:9199569   PMID:9413992   PMID:9664032   PMID:10205266   PMID:10746562   PMID:11739633   PMID:11980479   PMID:12477932   PMID:12808044  
PMID:14627959   PMID:15057823   PMID:15208569   PMID:15286166   PMID:15467523   PMID:15489334   PMID:16254549   PMID:16885921   PMID:16971895   PMID:17492548   PMID:17615540   PMID:17893674  
PMID:20013805   PMID:20431721   PMID:21031021   PMID:21386927   PMID:21552498   PMID:21606502   PMID:21647269   PMID:21681855   PMID:21873635   PMID:21897748   PMID:22312188   PMID:22550389  
PMID:22825713   PMID:22843197   PMID:22864933   PMID:22876138   PMID:23302783   PMID:23374644   PMID:23592915   PMID:24019978   PMID:24319337   PMID:24728566   PMID:24772942   PMID:25549162  
PMID:25635993   PMID:25959821   PMID:25963833   PMID:26018820   PMID:26449341   PMID:26683566   PMID:27143357   PMID:27609163   PMID:27789753   PMID:28088522   PMID:28877251   PMID:29298900  
PMID:29934635   PMID:30044662   PMID:30542154   PMID:31034164   PMID:31618082   PMID:32272685   PMID:32353936   PMID:32393512   PMID:32808810   PMID:32971763   PMID:33140904   PMID:33961781  
PMID:34226295   PMID:34830485   PMID:36629882   PMID:37589989   PMID:37892142   PMID:38178039  


Genomics

Comparative Map Data
GJA3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381320,138,255 - 20,161,565 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1320,138,255 - 20,161,052 (-)EnsemblGRCh38hg38GRCh38
GRCh371320,712,394 - 20,735,191 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361319,610,394 - 19,633,183 (-)NCBINCBI36Build 36hg18NCBI36
Build 341319,614,119 - 19,615,427NCBI
Celera131,774,203 - 1,796,991 (-)NCBICelera
Cytogenetic Map13q12.11NCBI
HuRef131,517,843 - 1,540,632 (-)NCBIHuRef
CHM1_11320,680,889 - 20,703,688 (-)NCBICHM1_1
T2T-CHM13v2.01319,334,689 - 19,357,997 (-)NCBIT2T-CHM13v2.0
Gja3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391457,271,917 - 57,295,487 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1457,271,917 - 57,295,557 (-)EnsemblGRCm39 Ensembl
GRCm381457,034,460 - 57,058,030 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1457,034,460 - 57,058,100 (-)EnsemblGRCm38mm10GRCm38
MGSCv371457,654,497 - 57,676,782 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361455,989,770 - 56,012,055 (-)NCBIMGSCv36mm8
Celera1454,826,204 - 54,848,538 (-)NCBICelera
Cytogenetic Map14C3NCBI
cM Map1429.82NCBI
Gja3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81535,296,946 - 35,322,405 (-)NCBIGRCr8
mRatBN7.21531,181,360 - 31,206,820 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1531,181,369 - 31,206,810 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1533,172,676 - 33,198,138 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01534,323,331 - 34,348,793 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01532,581,458 - 32,606,917 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01537,298,607 - 37,325,370 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1537,299,738 - 37,325,178 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01541,146,019 - 41,172,888 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41536,052,554 - 36,078,001 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11536,068,253 - 36,093,701 (-)NCBI
Celera1530,893,821 - 30,919,252 (-)NCBICelera
Cytogenetic Map15p12NCBI
GJA3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21419,771,129 - 19,791,424 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11310,875,614 - 10,903,716 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0131,464,542 - 1,488,240 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11319,780,656 - 19,803,446 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1319,784,372 - 19,785,679 (-)Ensemblpanpan1.1panPan2
GJA3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12517,986,270 - 18,004,344 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2518,002,817 - 18,004,160 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2518,016,882 - 18,034,847 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02518,124,207 - 18,142,180 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2518,124,215 - 18,143,066 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12517,990,559 - 18,008,503 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02518,002,295 - 18,020,235 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02518,058,980 - 18,076,953 (+)NCBIUU_Cfam_GSD_1.0
Gja3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945120,017,114 - 120,040,168 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367201,583,588 - 1,584,904 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367201,564,680 - 1,586,379 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GJA3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl11750,658 - 751,800 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.111750,658 - 751,889 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
GJA3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.13820,352 - 852,003 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl3846,982 - 848,286 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605743,732,906 - 43,755,939 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gja3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477617,579,913 - 17,581,121 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477617,562,050 - 17,585,308 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GJA3
197 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 copy number gain See cases [RCV001353184] Chr13:19053605..115108528 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_021954.4(GJA3):c.1137dup (p.Ser380fs) duplication Cataract 14 multiple types [RCV000018500] Chr13:20142151..20142152 [GRCh38]
Chr13:20716290..20716291 [GRCh37]
Chr13:13q12.11		 pathogenic
NM_021954.4(GJA3):c.723C>A (p.Asp241Glu) single nucleotide variant Cataract 14 multiple types [RCV000542799] Chr13:20142566 [GRCh38]
Chr13:20716705 [GRCh37]
Chr13:13q12.11		 uncertain significance
NC_000013.10:g.(?_20716100)_(20717447_?)dup duplication Cataract 14 multiple types [RCV000529409] Chr13:20141961..20143308 [GRCh38]
Chr13:20716100..20717447 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.188A>G (p.Asn63Ser) single nucleotide variant Cataract 14 multiple types [RCV000018499] Chr13:20143101 [GRCh38]
Chr13:20717240 [GRCh37]
Chr13:13q12.11		 pathogenic|likely pathogenic
NM_021954.4(GJA3):c.560C>T (p.Pro187Leu) single nucleotide variant Cataract 14 multiple types [RCV000018501] Chr13:20142729 [GRCh38]
Chr13:20716868 [GRCh37]
Chr13:13q12.11		 pathogenic|likely pathogenic
NM_021954.4(GJA3):c.227G>A (p.Arg76His) single nucleotide variant Cataract 14 multiple types [RCV000018502] Chr13:20143062 [GRCh38]
Chr13:20717201 [GRCh37]
Chr13:13q12.11		 pathogenic|likely pathogenic
NM_021954.4(GJA3):c.563A>C (p.Asn188Thr) single nucleotide variant Cataract 14 multiple types [RCV000043647] Chr13:20142726 [GRCh38]
Chr13:20716865 [GRCh37]
Chr13:13q12.11		 pathogenic|likely pathogenic
NM_021954.4(GJA3):c.5G>A (p.Gly2Asp) single nucleotide variant Cataract 14 multiple types [RCV000043648] Chr13:20143284 [GRCh38]
Chr13:20717423 [GRCh37]
Chr13:13q12.11		 pathogenic|likely pathogenic
NM_021954.4(GJA3):c.563A>T (p.Asn188Ile) single nucleotide variant Cataract 14 multiple types [RCV000043649] Chr13:20142726 [GRCh38]
Chr13:20716865 [GRCh37]
Chr13:13q12.11		 pathogenic|uncertain significance
NM_021954.4(GJA3):c.616T>A (p.Phe206Ile) single nucleotide variant Cataract 14 multiple types [RCV000043650]|GJA3-related disorder [RCV004755757] Chr13:20142673 [GRCh38]
Chr13:20716812 [GRCh37]
Chr13:13q12.11		 pathogenic|likely pathogenic|uncertain significance
NM_021954.4(GJA3):c.427G>A (p.Gly143Arg) single nucleotide variant Cataract 14 multiple types [RCV000043651] Chr13:20142862 [GRCh38]
Chr13:20717001 [GRCh37]
Chr13:13q12.11		 pathogenic|likely pathogenic
GRCh38/hg38 13q12.11(chr13:19837195-22574567)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051347]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051347]|See cases [RCV000051347] Chr13:19837195..22574567 [GRCh38]
Chr13:20411335..23148706 [GRCh37]
Chr13:19309335..22046706 [NCBI36]
Chr13:13q12.11		 pathogenic
GRCh38/hg38 13q12.11(chr13:20026650-21967789)x1 copy number loss See cases [RCV000051348] Chr13:20026650..21967789 [GRCh38]
Chr13:20600790..22541928 [GRCh37]
Chr13:19498790..21439928 [NCBI36]
Chr13:13q12.11		 pathogenic
GRCh38/hg38 13q12.11-12.12(chr13:19837395-24884509)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052343]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052343]|See cases [RCV000052343] Chr13:19837395..24884509 [GRCh38]
Chr13:20411535..25458647 [GRCh37]
Chr13:19309535..24356647 [NCBI36]
Chr13:13q12.11-12.12		 pathogenic
GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3 copy number gain See cases [RCV000053729] Chr13:18958091..31090460 [GRCh38]
Chr13:19532231..31664597 [GRCh37]
Chr13:18430231..30562597 [NCBI36]
Chr13:13q12.11-12.3		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000053731] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q12.11-12.12(chr13:19837395-22904755)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053733]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053733]|See cases [RCV000053733] Chr13:19837395..22904755 [GRCh38]
Chr13:20411535..23478894 [GRCh37]
Chr13:19309535..22376894 [NCBI36]
Chr13:13q12.11-12.12		 pathogenic
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 copy number gain See cases [RCV000053719] Chr13:18565048..114327173 [GRCh38]
Chr13:19139188..115085141 [GRCh37]
Chr13:18037188..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3 copy number gain See cases [RCV000053721] Chr13:18676442..37656039 [GRCh38]
Chr13:19250582..38230176 [GRCh37]
Chr13:18148582..37128176 [NCBI36]
Chr13:13q11-13.3		 pathogenic
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 copy number gain See cases [RCV000053723] Chr13:18850545..114327173 [GRCh38]
Chr13:19296527..115085141 [GRCh37]
Chr13:18194527..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 copy number gain See cases [RCV000053726] Chr13:18946182..114304628 [GRCh38]
Chr13:19520322..115070103 [GRCh37]
Chr13:18418322..114088205 [NCBI36]
Chr13:13q12.11-34		 pathogenic
NM_021954.4(GJA3):c.210C>A (p.Phe70Leu) single nucleotide variant Cataract 14 multiple types [RCV001253147] Chr13:20143079 [GRCh38]
Chr13:20717218 [GRCh37]
Chr13:13q12.11		 uncertain significance
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 copy number gain See cases [RCV000134104] Chr13:19833130..114298614 [GRCh38]
Chr13:20407270..115064089 [GRCh37]
Chr13:19305270..114082191 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q12.11(chr13:19857140-20222070)x3 copy number gain See cases [RCV000135381] Chr13:19857140..20222070 [GRCh38]
Chr13:20431280..20796209 [GRCh37]
Chr13:19329280..19694209 [NCBI36]
Chr13:13q12.11		 uncertain significance
GRCh38/hg38 13q12.11(chr13:19885283-22014498)x1 copy number loss See cases [RCV000134754] Chr13:19885283..22014498 [GRCh38]
Chr13:20459423..22588637 [GRCh37]
Chr13:19357423..21486637 [NCBI36]
Chr13:13q12.11		 pathogenic
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 copy number loss See cases [RCV000135610] Chr13:18445862..114327173 [GRCh38]
Chr13:19020001..115085141 [GRCh37]
Chr13:10098739..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q12.11(chr13:19837395-21967789)x1 copy number loss See cases [RCV000137093] Chr13:19837395..21967789 [GRCh38]
Chr13:20411535..22541928 [GRCh37]
Chr13:19309535..21439928 [NCBI36]
Chr13:13q12.11		 uncertain significance
GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3 copy number gain See cases [RCV000137892] Chr13:19671934..40914767 [GRCh38]
Chr13:20246074..41488903 [GRCh37]
Chr13:19144074..40386903 [NCBI36]
Chr13:13q12.11-14.11		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 copy number gain See cases [RCV000139078] Chr13:19833130..114327106 [GRCh38]
Chr13:20407270..115085141 [GRCh37]
Chr13:19305270..114110683 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 copy number gain See cases [RCV000140004] Chr13:18456040..114340285 [GRCh38]
Chr13:19030180..115105760 [GRCh37]
Chr13:17928180..114123862 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3 copy number gain See cases [RCV000141867] Chr13:18862146..33577351 [GRCh38]
Chr13:19436286..34151488 [GRCh37]
Chr13:18334286..33049488 [NCBI36]
Chr13:13q11-13.2		 pathogenic
GRCh38/hg38 13q11-12.11(chr13:18862146-22489174)x3 copy number gain See cases [RCV000142006] Chr13:18862146..22489174 [GRCh38]
Chr13:19436286..23063313 [GRCh37]
Chr13:18334286..21961313 [NCBI36]
Chr13:13q11-12.11		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 copy number gain See cases [RCV000142924] Chr13:19671934..114340331 [GRCh38]
Chr13:20246074..115085141 [GRCh37]
Chr13:19144074..114123908 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q12.11-12.13(chr13:19671934-24985872)x1 copy number loss See cases [RCV000143197] Chr13:19671934..24985872 [GRCh38]
Chr13:20246074..25560010 [GRCh37]
Chr13:19144074..24458010 [NCBI36]
Chr13:13q12.11-12.13		 pathogenic
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 copy number gain See cases [RCV000143462] Chr13:18862146..114342258 [GRCh38]
Chr13:19436286..115107733 [GRCh37]
Chr13:18334286..114125835 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000148126] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 copy number gain See cases [RCV000240150] Chr13:19571503..115092569 [GRCh37]
Chr13:13q12.11-34		 pathogenic
NM_021954.4(GJA3):c.176C>T (p.Pro59Leu) single nucleotide variant Cataract 14 multiple types [RCV000546601]|Developmental cataract [RCV000203321] Chr13:20143113 [GRCh38]
Chr13:20717252 [GRCh37]
Chr13:13q12.11		 pathogenic|likely pathogenic
NM_021954.4(GJA3):c.7G>C (p.Asp3His) single nucleotide variant Cataract 14 multiple types [RCV002225096]|Developmental cataract [RCV000203361] Chr13:20143282 [GRCh38]
Chr13:20717421 [GRCh37]
Chr13:13q12.11		 likely pathogenic|conflicting interpretations of pathogenicity
NM_021954.4(GJA3):c.260C>T (p.Thr87Met) single nucleotide variant Cataract 14 multiple types [RCV004589871]|Developmental cataract [RCV000203373] Chr13:20143029 [GRCh38]
Chr13:20717168 [GRCh37]
Chr13:13q12.11		 pathogenic|likely pathogenic
NM_021954.4(GJA3):c.895C>A (p.Leu299Met) single nucleotide variant Cataract 14 multiple types [RCV000317535]|not provided [RCV000836676]|not specified [RCV000253661] Chr13:20142394 [GRCh38]
Chr13:20716533 [GRCh37]
Chr13:13q12.11		 benign
NM_021954.4(GJA3):c.1017G>A (p.Ala339=) single nucleotide variant Cataract 14 multiple types [RCV000320501]|not provided [RCV000836250]|not specified [RCV000244960] Chr13:20142272 [GRCh38]
Chr13:20716411 [GRCh37]
Chr13:13q12.11		 benign
NM_021954.4(GJA3):c.543C>T (p.Cys181=) single nucleotide variant Cataract 14 multiple types [RCV000530487]|not provided [RCV001668579]|not specified [RCV000250319] Chr13:20142746 [GRCh38]
Chr13:20716885 [GRCh37]
Chr13:13q12.11		 benign
NM_021954.4(GJA3):c.*2870C>T single nucleotide variant Cataract 14 multiple types [RCV000301885] Chr13:20139111 [GRCh38]
Chr13:20713250 [GRCh37]
Chr13:13q12.11		 benign|likely benign
NM_021954.4(GJA3):c.231C>T (p.Phe77=) single nucleotide variant Cataract 14 multiple types [RCV000303232]|GJA3-related disorder [RCV004755867] Chr13:20143058 [GRCh38]
Chr13:20717197 [GRCh37]
Chr13:13q12.11		 benign|likely benign
NM_021954.4(GJA3):c.-60G>A single nucleotide variant Cataract 14 multiple types [RCV000303997] Chr13:20160932 [GRCh38]
Chr13:20735071 [GRCh37]
Chr13:13q12.11		 benign|likely benign
NM_021954.4(GJA3):c.949G>C (p.Gly317Arg) single nucleotide variant Cataract 14 multiple types [RCV000267109] Chr13:20142340 [GRCh38]
Chr13:20716479 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.*1257G>A single nucleotide variant Cataract 14 multiple types [RCV000303896]|not provided [RCV004707070] Chr13:20140724 [GRCh38]
Chr13:20714863 [GRCh37]
Chr13:13q12.11		 benign
NM_021954.4(GJA3):c.398G>A (p.Arg133Gln) single nucleotide variant Cataract 14 multiple types [RCV000558856]|not provided [RCV001573126] Chr13:20142891 [GRCh38]
Chr13:20717030 [GRCh37]
Chr13:13q12.11		 benign|likely benign
NM_021954.4(GJA3):c.*509A>G single nucleotide variant Cataract 14 multiple types [RCV000287291]|not provided [RCV004708323] Chr13:20141472 [GRCh38]
Chr13:20715611 [GRCh37]
Chr13:13q12.11		 benign|likely benign
NM_021954.4(GJA3):c.440G>A (p.Arg147Gln) single nucleotide variant Cataract 14 multiple types [RCV000287954] Chr13:20142849 [GRCh38]
Chr13:20716988 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.*744A>G single nucleotide variant Cataract 14 multiple types [RCV000270636] Chr13:20141237 [GRCh38]
Chr13:20715376 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.*618G>A single nucleotide variant Cataract 14 multiple types [RCV000271712]|not provided [RCV004708322] Chr13:20141363 [GRCh38]
Chr13:20715502 [GRCh37]
Chr13:13q12.11		 benign
NM_021954.4(GJA3):c.*3373del deletion Zonular Pulverulent Cataract [RCV000289816] Chr13:20138608 [GRCh38]
Chr13:20712747 [GRCh37]
Chr13:13q12.11		 benign
NM_021954.4(GJA3):c.720G>A (p.Pro240=) single nucleotide variant Cataract 14 multiple types [RCV000292821] Chr13:20142569 [GRCh38]
Chr13:20716708 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.*2602T>C single nucleotide variant Cataract 14 multiple types [RCV000357028]|not provided [RCV004707067] Chr13:20139379 [GRCh38]
Chr13:20713518 [GRCh37]
Chr13:13q12.11		 benign
NM_021954.4(GJA3):c.*243G>A single nucleotide variant Cataract 14 multiple types [RCV000405527]|not provided [RCV001672484] Chr13:20141738 [GRCh38]
Chr13:20715877 [GRCh37]
Chr13:13q12.11		 benign
NM_021954.4(GJA3):c.*904G>T single nucleotide variant Cataract 14 multiple types [RCV000274760] Chr13:20141077 [GRCh38]
Chr13:20715216 [GRCh37]
Chr13:13q12.11		 benign|likely benign
NM_021954.4(GJA3):c.*2416A>G single nucleotide variant Cataract 14 multiple types [RCV000277333] Chr13:20139565 [GRCh38]
Chr13:20713704 [GRCh37]
Chr13:13q12.11		 benign|likely benign
NM_021954.4(GJA3):c.*2593A>T single nucleotide variant Cataract 14 multiple types [RCV000262170]|not provided [RCV004708319] Chr13:20139388 [GRCh38]
Chr13:20713527 [GRCh37]
Chr13:13q12.11		 benign
NM_021954.4(GJA3):c.*3609G>A single nucleotide variant Cataract 14 multiple types [RCV000295754] Chr13:20138372 [GRCh38]
Chr13:20712511 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.*2831A>G single nucleotide variant Cataract 14 multiple types [RCV000261120]|not provided [RCV004708318] Chr13:20139150 [GRCh38]
Chr13:20713289 [GRCh37]
Chr13:13q12.11		 benign|likely benign
NM_021954.4(GJA3):c.*1351C>T single nucleotide variant Cataract 14 multiple types [RCV000390701] Chr13:20140630 [GRCh38]
Chr13:20714769 [GRCh37]
Chr13:13q12.11		 benign|likely benign
NM_021954.4(GJA3):c.*358T>C single nucleotide variant Cataract 14 multiple types [RCV000279178] Chr13:20141623 [GRCh38]
Chr13:20715762 [GRCh37]
Chr13:13q12.11		 benign|likely benign
NM_021954.4(GJA3):c.*581A>G single nucleotide variant Cataract 14 multiple types [RCV000322021] Chr13:20141400 [GRCh38]
Chr13:20715539 [GRCh37]
Chr13:13q12.11		 benign|likely benign
NM_021954.4(GJA3):c.*491T>A single nucleotide variant Cataract 14 multiple types [RCV000323577] Chr13:20141490 [GRCh38]
Chr13:20715629 [GRCh37]
Chr13:13q12.11		 benign|likely benign
NM_021954.4(GJA3):c.1233C>T (p.Leu411=) single nucleotide variant Cataract 14 multiple types [RCV000394570] Chr13:20142056 [GRCh38]
Chr13:20716195 [GRCh37]
Chr13:13q12.11		 benign|likely benign
NM_021954.4(GJA3):c.862C>T (p.Pro288Ser) single nucleotide variant Cataract 14 multiple types [RCV000282241] Chr13:20142427 [GRCh38]
Chr13:20716566 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.*1997G>A single nucleotide variant Cataract 14 multiple types [RCV000347413]|not provided [RCV004707069] Chr13:20139984 [GRCh38]
Chr13:20714123 [GRCh37]
Chr13:13q12.11		 benign|likely benign
NM_021954.4(GJA3):c.*691G>A single nucleotide variant Cataract 14 multiple types [RCV000325623] Chr13:20141290 [GRCh38]
Chr13:20715429 [GRCh37]
Chr13:13q12.11		 likely benign|uncertain significance
NM_021954.4(GJA3):c.*186TG[1] microsatellite Zonular Pulverulent Cataract [RCV000349281]|not provided [RCV001618545] Chr13:20141792..20141793 [GRCh38]
Chr13:20715931..20715932 [GRCh37]
Chr13:13q12.11		 benign
NM_021954.4(GJA3):c.1111G>A (p.Ala371Thr) single nucleotide variant Cataract 14 multiple types [RCV000864890]|not provided [RCV003884461] Chr13:20142178 [GRCh38]
Chr13:20716317 [GRCh37]
Chr13:13q12.11		 benign|likely benign
NM_021954.4(GJA3):c.*2469T>C single nucleotide variant Cataract 14 multiple types [RCV000331369]|not provided [RCV004708320] Chr13:20139512 [GRCh38]
Chr13:20713651 [GRCh37]
Chr13:13q12.11		 benign
NM_021954.4(GJA3):c.*3166C>T single nucleotide variant Cataract 14 multiple types [RCV000403413]|not provided [RCV004708316] Chr13:20138815 [GRCh38]
Chr13:20712954 [GRCh37]
Chr13:13q12.11		 benign
NM_021954.4(GJA3):c.375A>G (p.Pro125=) single nucleotide variant Cataract 14 multiple types [RCV000872841]|not provided [RCV002225584] Chr13:20142914 [GRCh38]
Chr13:20717053 [GRCh37]
Chr13:13q12.11		 benign|likely benign
NM_021954.4(GJA3):c.*2311A>C single nucleotide variant Cataract 14 multiple types [RCV000332494] Chr13:20139670 [GRCh38]
Chr13:20713809 [GRCh37]
Chr13:13q12.11		 likely benign|uncertain significance
NM_021954.4(GJA3):c.*1083T>C single nucleotide variant Cataract 14 multiple types [RCV000355487]|not provided [RCV004707071] Chr13:20140898 [GRCh38]
Chr13:20715037 [GRCh37]
Chr13:13q12.11		 benign|likely benign
NM_021954.4(GJA3):c.1082C>T (p.Pro361Leu) single nucleotide variant Cataract 14 multiple types [RCV000265377] Chr13:20142207 [GRCh38]
Chr13:20716346 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.*2231A>G single nucleotide variant Cataract 14 multiple types [RCV000382347]|not provided [RCV004707068] Chr13:20139750 [GRCh38]
Chr13:20713889 [GRCh37]
Chr13:13q12.11		 benign
NM_021954.4(GJA3):c.*47A>G single nucleotide variant Cataract 14 multiple types [RCV000313370]|not provided [RCV002285309] Chr13:20141934 [GRCh38]
Chr13:20716073 [GRCh37]
Chr13:13q12.11		 benign|likely benign
NM_021954.4(GJA3):c.*1239C>G single nucleotide variant Cataract 14 multiple types [RCV000335497] Chr13:20140742 [GRCh38]
Chr13:20714881 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.84G>A (p.Val28=) single nucleotide variant Cataract 14 multiple types [RCV000358000]|GJA3-related disorder [RCV003920300] Chr13:20143205 [GRCh38]
Chr13:20717344 [GRCh37]
Chr13:13q12.11		 benign|likely benign
NM_021954.4(GJA3):c.*2864T>C single nucleotide variant Cataract 14 multiple types [RCV000359061]|not provided [RCV004708317] Chr13:20139117 [GRCh38]
Chr13:20713256 [GRCh37]
Chr13:13q12.11		 benign|likely benign
NM_021954.4(GJA3):c.*647G>A single nucleotide variant Cataract 14 multiple types [RCV000384827] Chr13:20141334 [GRCh38]
Chr13:20715473 [GRCh37]
Chr13:13q12.11		 likely benign|uncertain significance
NM_021954.4(GJA3):c.*319G>T single nucleotide variant Cataract 14 multiple types [RCV000338663]|not provided [RCV001711920] Chr13:20141662 [GRCh38]
Chr13:20715801 [GRCh37]
Chr13:13q12.11		 benign
NM_021954.4(GJA3):c.1013C>T (p.Pro338Leu) single nucleotide variant Cataract 14 multiple types [RCV000810800] Chr13:20142276 [GRCh38]
Chr13:20716415 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.*2426C>A single nucleotide variant Cataract 14 multiple types [RCV000385799]|not provided [RCV004708321] Chr13:20139555 [GRCh38]
Chr13:20713694 [GRCh37]
Chr13:13q12.11		 benign
NM_021954.4(GJA3):c.780G>A (p.Arg260=) single nucleotide variant Zonular Pulverulent Cataract [RCV000387037] Chr13:20142509 [GRCh38]
Chr13:20716648 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.*1449C>T single nucleotide variant Cataract 14 multiple types [RCV000339090] Chr13:20140532 [GRCh38]
Chr13:20714671 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.1234G>A (p.Gly412Arg) single nucleotide variant Cataract 14 multiple types [RCV000363276]|not provided [RCV004707072] Chr13:20142055 [GRCh38]
Chr13:20716194 [GRCh37]
Chr13:13q12.11		 benign|likely benign
NM_021954.4(GJA3):c.852C>G (p.Ala284=) single nucleotide variant Cataract 14 multiple types [RCV000318629] Chr13:20142437 [GRCh38]
Chr13:20716576 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.1083A>C (p.Pro361=) single nucleotide variant Cataract 14 multiple types [RCV000364587]|not provided [RCV001559523] Chr13:20142206 [GRCh38]
Chr13:20716345 [GRCh37]
Chr13:13q12.11		 benign|likely benign
NM_021954.4(GJA3):c.-41G>T single nucleotide variant Cataract 14 multiple types [RCV000399035] Chr13:20160913 [GRCh38]
Chr13:20735052 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.*846G>C single nucleotide variant Cataract 14 multiple types [RCV000315301] Chr13:20141135 [GRCh38]
Chr13:20715274 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.*3182T>G single nucleotide variant Cataract 14 multiple types [RCV000347292] Chr13:20138799 [GRCh38]
Chr13:20712938 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.*1841C>T single nucleotide variant Cataract 14 multiple types [RCV000383348] Chr13:20140140 [GRCh38]
Chr13:20714279 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.*3393del deletion Zonular Pulverulent Cataract [RCV000348302] Chr13:20138588 [GRCh38]
Chr13:20712727 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.*198T>C single nucleotide variant Cataract 14 multiple types [RCV000294365] Chr13:20141783 [GRCh38]
Chr13:20715922 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.*101G>A single nucleotide variant Cataract 14 multiple types [RCV000405223] Chr13:20141880 [GRCh38]
Chr13:20716019 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.*1565A>G single nucleotide variant Zonular Pulverulent Cataract [RCV000284345] Chr13:20140416 [GRCh38]
Chr13:20714555 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.*3389G>A single nucleotide variant Cataract 14 multiple types [RCV000386478] Chr13:20138592 [GRCh38]
Chr13:20712731 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.*3108C>T single nucleotide variant Cataract 14 multiple types [RCV000307708] Chr13:20138873 [GRCh38]
Chr13:20713012 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.545A>G (p.Asp182Gly) single nucleotide variant Cataract 14 multiple types [RCV000351043] Chr13:20142744 [GRCh38]
Chr13:20716883 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.*846G>A single nucleotide variant Cataract 14 multiple types [RCV000369999] Chr13:20141135 [GRCh38]
Chr13:20715274 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.*2829A>T single nucleotide variant Cataract 14 multiple types [RCV000297538] Chr13:20139152 [GRCh38]
Chr13:20713291 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.885G>C (p.Ala295=) single nucleotide variant Cataract 14 multiple types [RCV000372141] Chr13:20142404 [GRCh38]
Chr13:20716543 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.*2079A>G single nucleotide variant Cataract 14 multiple types [RCV000287725] Chr13:20139902 [GRCh38]
Chr13:20714041 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.*420_*434delinsATAGA indel Zonular Pulverulent Cataract [RCV000373711] Chr13:20141547..20141561 [GRCh38]
Chr13:20715686..20715700 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.-179C>T single nucleotide variant Zonular Pulverulent Cataract [RCV000283434] Chr13:20161051 [GRCh38]
Chr13:20735190 [GRCh37]
Chr13:13q12.11		 likely benign
NM_021954.4(GJA3):c.*1176A>C single nucleotide variant Cataract 14 multiple types [RCV000300528] Chr13:20140805 [GRCh38]
Chr13:20714944 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.*3099C>A single nucleotide variant Cataract 14 multiple types [RCV000341500] Chr13:20138882 [GRCh38]
Chr13:20713021 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.*553C>T single nucleotide variant Zonular Pulverulent Cataract [RCV000376663] Chr13:20141428 [GRCh38]
Chr13:20715567 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.*1232T>C single nucleotide variant Cataract 14 multiple types [RCV000395331] Chr13:20140749 [GRCh38]
Chr13:20714888 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.*2923A>G single nucleotide variant Cataract 14 multiple types [RCV000396880] Chr13:20139058 [GRCh38]
Chr13:20713197 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.771C>A (p.Pro257=) single nucleotide variant Cataract 14 multiple types [RCV000559920]|GJA3-related disorder [RCV003915577] Chr13:20142518 [GRCh38]
Chr13:20716657 [GRCh37]
Chr13:13q12.11		 benign|likely benign
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) copy number gain See cases [RCV000449142] Chr13:19571503..115092510 [GRCh37]
Chr13:13q12.11-34		 pathogenic
GRCh37/hg19 13q12.11(chr13:20523271-21972234)x1 copy number loss See cases [RCV000447580] Chr13:20523271..21972234 [GRCh37]
Chr13:13q12.11		 likely pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain See cases [RCV000445886] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733) copy number gain See cases [RCV000510405] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q12.11(chr13:20321760-21255354)x3 copy number gain See cases [RCV000511806] Chr13:20321760..21255354 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.56C>T (p.Thr19Met) single nucleotide variant Cataract 14 multiple types [RCV004591098]|Congenital cataracts-facial dysmorphism-neuropathy syndrome [RCV002272192]|Developmental cataract [RCV000490765] Chr13:20143233 [GRCh38]
Chr13:20717372 [GRCh37]
Chr13:13q12.11		 pathogenic|likely pathogenic
NM_021954.4(GJA3):c.466A>C (p.Lys156Gln) single nucleotide variant Cataract 14 multiple types [RCV004591099]|Developmental cataract [RCV000490774] Chr13:20142823 [GRCh38]
Chr13:20716962 [GRCh37]
Chr13:13q12.11		 pathogenic|uncertain significance
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 copy number gain See cases [RCV000511880] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_021954.4(GJA3):c.19C>G (p.Leu7Val) single nucleotide variant Cataract 14 multiple types [RCV001296617] Chr13:20143270 [GRCh38]
Chr13:20717409 [GRCh37]
Chr13:13q12.11		 likely benign|uncertain significance
NM_021954.4(GJA3):c.82G>A (p.Val28Met) single nucleotide variant Cataract 14 multiple types [RCV000536966] Chr13:20143207 [GRCh38]
Chr13:20717346 [GRCh37]
Chr13:13q12.11		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_021954.4(GJA3):c.443C>T (p.Thr148Ile) single nucleotide variant Cataract 14 multiple types [RCV000644861] Chr13:20142846 [GRCh38]
Chr13:20716985 [GRCh37]
Chr13:13q12.11		 uncertain significance
GRCh37/hg19 13q12.11(chr13:20605484-21759494)x1 copy number loss not provided [RCV000683544] Chr13:20605484..21759494 [GRCh37]
Chr13:13q12.11		 likely pathogenic
GRCh37/hg19 13q12.11-12.13(chr13:20008480-25534121)x1 copy number loss not provided [RCV000683564] Chr13:20008480..25534121 [GRCh37]
Chr13:13q12.11-12.13		 pathogenic
GRCh37/hg19 13q12.11(chr13:20225257-20776711)x3 copy number gain not provided [RCV000683530] Chr13:20225257..20776711 [GRCh37]
Chr13:13q12.11		 uncertain significance
GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3 copy number gain not provided [RCV000683572] Chr13:19436286..74045459 [GRCh37]
Chr13:13q11-22.1		 pathogenic
GRCh37/hg19 13q12.11(chr13:20684560-21089219)x3 copy number gain not provided [RCV000683524] Chr13:20684560..21089219 [GRCh37]
Chr13:13q12.11		 uncertain significance
GRCh37/hg19 13q12.11(chr13:20602613-20868369)x3 copy number gain not provided [RCV000683507] Chr13:20602613..20868369 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.139G>T (p.Asp47Tyr) single nucleotide variant Cataract 14 multiple types [RCV000688440] Chr13:20143150 [GRCh38]
Chr13:20717289 [GRCh37]
Chr13:13q12.11		 uncertain significance
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 copy number gain not provided [RCV000738115] Chr13:19058717..115103529 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 copy number gain not provided [RCV000750643] Chr13:19031237..115107157 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_021954.4(GJA3):c.*532A>G single nucleotide variant Cataract 14 multiple types [RCV001114944] Chr13:20141449 [GRCh38]
Chr13:20715588 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.672C>T (p.His224=) single nucleotide variant Cataract 14 multiple types [RCV002545991] Chr13:20142617 [GRCh38]
Chr13:20716756 [GRCh37]
Chr13:13q12.11		 likely benign
GRCh37/hg19 13q12.11(chr13:19540031-22849981) copy number loss not provided [RCV000767820] Chr13:19540031..22849981 [GRCh37]
Chr13:13q12.11		 likely pathogenic
NM_021954.4(GJA3):c.1060C>G (p.Pro354Ala) single nucleotide variant Cataract 14 multiple types [RCV001514798]|GJA3-related disorder [RCV003936225]|Inborn genetic diseases [RCV002549575] Chr13:20142229 [GRCh38]
Chr13:20716368 [GRCh37]
Chr13:13q12.11		 benign|likely benign|uncertain significance
NM_021954.4(GJA3):c.715G>C (p.Gly239Arg) single nucleotide variant Inborn genetic diseases [RCV003248948] Chr13:20142574 [GRCh38]
Chr13:20716713 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.246C>G (p.Ile82Met) single nucleotide variant Cataract 14 multiple types [RCV000821592] Chr13:20143043 [GRCh38]
Chr13:20717182 [GRCh37]
Chr13:13q12.11		 uncertain significance
NC_000013.10:g.(?_20716100)_(21398980_?)dup duplication Autosomal recessive nonsyndromic hearing loss 1A [RCV000813338] Chr13:20141961..20824841 [GRCh38]
Chr13:20716100..21398980 [GRCh37]
Chr13:13q12.11		 uncertain significance
GRCh37/hg19 13q12.11(chr13:20705241-21089219)x3 copy number gain not provided [RCV000847389] Chr13:20705241..21089219 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.*2340A>G single nucleotide variant Cataract 14 multiple types [RCV001114838] Chr13:20139641 [GRCh38]
Chr13:20713780 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.*2086G>T single nucleotide variant Cataract 14 multiple types [RCV001114841] Chr13:20139895 [GRCh38]
Chr13:20714034 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.130G>A (p.Val44Met) single nucleotide variant Cataract 14 multiple types [RCV000792076] Chr13:20143159 [GRCh38]
Chr13:20717298 [GRCh37]
Chr13:13q12.11		 pathogenic|likely pathogenic
NM_021954.4(GJA3):c.522G>A (p.Glu174=) single nucleotide variant Cataract 14 multiple types [RCV001115051] Chr13:20142767 [GRCh38]
Chr13:20716906 [GRCh37]
Chr13:13q12.11		 likely benign
NM_021954.4(GJA3):c.1217A>G (p.Gln406Arg) single nucleotide variant Cataract 14 multiple types [RCV000810510] Chr13:20142072 [GRCh38]
Chr13:20716211 [GRCh37]
Chr13:13q12.11		 uncertain significance
NC_000013.11:g.(?_20141961)_(20824841_?)del deletion Cataract 14 multiple types [RCV001031192] Chr13:20716100..21398980 [GRCh37]
Chr13:13q12.11		 uncertain significance
GRCh37/hg19 13q12.11(chr13:20562171-22993375)x1 copy number loss not provided [RCV000847185] Chr13:20562171..22993375 [GRCh37]
Chr13:13q12.11		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV000849129] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q11-12.11(chr13:19436286-20886867)x3 copy number gain not provided [RCV001006543] Chr13:19436286..20886867 [GRCh37]
Chr13:13q11-12.11		 uncertain significance
GRCh37/hg19 13q11-12.12(chr13:19436286-24970361)x1 copy number loss not provided [RCV001006544] Chr13:19436286..24970361 [GRCh37]
Chr13:13q11-12.12		 pathogenic
GRCh37/hg19 13q12.11(chr13:20668070-23029230)x1 copy number loss not provided [RCV001006546] Chr13:20668070..23029230 [GRCh37]
Chr13:13q12.11		 pathogenic
NM_021954.4(GJA3):c.*2695C>T single nucleotide variant Cataract 14 multiple types [RCV001113443] Chr13:20139286 [GRCh38]
Chr13:20713425 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.1088C>T (p.Ala363Val) single nucleotide variant Inborn genetic diseases [RCV004030187]|not provided [RCV000995029] Chr13:20142201 [GRCh38]
Chr13:20716340 [GRCh37]
Chr13:13q12.11		 uncertain significance
GRCh37/hg19 13q12.11-12.13(chr13:20069228-27474401)x3 copy number gain not provided [RCV000847640] Chr13:20069228..27474401 [GRCh37]
Chr13:13q12.11-12.13		 pathogenic
GRCh37/hg19 13q11-12.11(chr13:19436286-23274540)x1 copy number loss not provided [RCV000846015] Chr13:19436286..23274540 [GRCh37]
Chr13:13q11-12.11		 pathogenic
NM_021954.4(GJA3):c.176C>A (p.Pro59Gln) single nucleotide variant not provided [RCV003312257] Chr13:20143113 [GRCh38]
Chr13:20717252 [GRCh37]
Chr13:13q12.11		 likely pathogenic
NM_021954.4(GJA3):c.*1365G>A single nucleotide variant Cataract 14 multiple types [RCV001111536] Chr13:20140616 [GRCh38]
Chr13:20714755 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.1136G>A (p.Gly379Asp) single nucleotide variant Cataract 14 multiple types [RCV001111633] Chr13:20142153 [GRCh38]
Chr13:20716292 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.1089G>A (p.Ala363=) single nucleotide variant Cataract 14 multiple types [RCV001111634] Chr13:20142200 [GRCh38]
Chr13:20716339 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.1016C>T (p.Ala339Val) single nucleotide variant not provided [RCV001092708] Chr13:20142273 [GRCh38]
Chr13:20716412 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.383A>T (p.Asp128Val) single nucleotide variant Cataract 14 multiple types [RCV001109412] Chr13:20142906 [GRCh38]
Chr13:20717045 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.1086_1087insA (p.Ala363fs) insertion not provided [RCV000919890] Chr13:20142202..20142203 [GRCh38]
Chr13:20716341..20716342 [GRCh37]
Chr13:13q12.11		 likely benign
NM_021954.4(GJA3):c.-98G>A single nucleotide variant Cataract 14 multiple types [RCV001111734] Chr13:20160970 [GRCh38]
Chr13:20735109 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.*2107T>A single nucleotide variant Cataract 14 multiple types [RCV001114839] Chr13:20139874 [GRCh38]
Chr13:20714013 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.*2093A>C single nucleotide variant Cataract 14 multiple types [RCV001114840] Chr13:20139888 [GRCh38]
Chr13:20714027 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.*740G>C single nucleotide variant Cataract 14 multiple types [RCV001113529] Chr13:20141241 [GRCh38]
Chr13:20715380 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.439C>T (p.Arg147Trp) single nucleotide variant Cataract 14 multiple types [RCV001065379] Chr13:20142850 [GRCh38]
Chr13:20716989 [GRCh37]
Chr13:13q12.11		 uncertain significance
GRCh37/hg19 13q11-12.11(chr13:19436287-22405375)x3 copy number gain not provided [RCV002473574] Chr13:19436287..22405375 [GRCh37]
Chr13:13q11-12.11		 uncertain significance
NM_021954.4(GJA3):c.*3210A>G single nucleotide variant Cataract 14 multiple types [RCV001111439] Chr13:20138771 [GRCh38]
Chr13:20712910 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.*2931A>G single nucleotide variant Cataract 14 multiple types [RCV001111440] Chr13:20139050 [GRCh38]
Chr13:20713189 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.*1535C>T single nucleotide variant Cataract 14 multiple types [RCV001111534] Chr13:20140446 [GRCh38]
Chr13:20714585 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.*1495G>C single nucleotide variant Cataract 14 multiple types [RCV001111535] Chr13:20140486 [GRCh38]
Chr13:20714625 [GRCh37]
Chr13:13q12.11		 uncertain significance
GRCh37/hg19 13q12.11(chr13:20722953-20855764)x3 copy number gain not provided [RCV001006547] Chr13:20722953..20855764 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.*1965C>T single nucleotide variant Cataract 14 multiple types [RCV001109199] Chr13:20140016 [GRCh38]
Chr13:20714155 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.*1931G>C single nucleotide variant Cataract 14 multiple types [RCV001109202] Chr13:20140050 [GRCh38]
Chr13:20714189 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.1240C>G (p.Pro414Ala) single nucleotide variant Cataract 14 multiple types [RCV001111631] Chr13:20142049 [GRCh38]
Chr13:20716188 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.1169C>A (p.Thr390Asn) single nucleotide variant Cataract 14 multiple types [RCV001111632] Chr13:20142120 [GRCh38]
Chr13:20716259 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.1276G>A (p.Gly426Arg) single nucleotide variant Cataract 14 multiple types [RCV001109307] Chr13:20142013 [GRCh38]
Chr13:20716152 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.395C>T (p.Ser132Leu) single nucleotide variant Cataract 14 multiple types [RCV001109411]|Inborn genetic diseases [RCV003259096]|not provided [RCV001759878] Chr13:20142894 [GRCh38]
Chr13:20717033 [GRCh37]
Chr13:13q12.11		 benign|uncertain significance
NM_021954.4(GJA3):c.*223T>G single nucleotide variant Cataract 14 multiple types [RCV001109305] Chr13:20141758 [GRCh38]
Chr13:20715897 [GRCh37]
Chr13:13q12.11		 benign
NM_021954.4(GJA3):c.1256A>G (p.Lys419Arg) single nucleotide variant Cataract 14 multiple types [RCV001109308] Chr13:20142033 [GRCh38]
Chr13:20716172 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.-17-299G>A single nucleotide variant not provided [RCV001652406] Chr13:20143604 [GRCh38]
Chr13:20717743 [GRCh37]
Chr13:13q12.11		 benign
NM_021954.4(GJA3):c.1065C>G (p.Val355=) single nucleotide variant Cataract 14 multiple types [RCV001112097] Chr13:20142224 [GRCh38]
Chr13:20716363 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.779G>A (p.Arg260Gln) single nucleotide variant Cataract 14 multiple types [RCV001207762] Chr13:20142510 [GRCh38]
Chr13:20716649 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.*2363A>G single nucleotide variant Cataract 14 multiple types [RCV001114837] Chr13:20139618 [GRCh38]
Chr13:20713757 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.*3509C>G single nucleotide variant Cataract 14 multiple types [RCV001109104] Chr13:20138472 [GRCh38]
Chr13:20712611 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.*1957G>C single nucleotide variant Cataract 14 multiple types [RCV001109200] Chr13:20140024 [GRCh38]
Chr13:20714163 [GRCh37]
Chr13:13q12.11		 benign
NM_021954.4(GJA3):c.*1941C>G single nucleotide variant Cataract 14 multiple types [RCV001109201] Chr13:20140040 [GRCh38]
Chr13:20714179 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.*1760G>A single nucleotide variant Cataract 14 multiple types [RCV001109203] Chr13:20140221 [GRCh38]
Chr13:20714360 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.*201G>C single nucleotide variant Cataract 14 multiple types [RCV001109306] Chr13:20141780 [GRCh38]
Chr13:20715919 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.334G>C (p.Glu112Gln) single nucleotide variant Cataract 14 multiple types [RCV001109413] Chr13:20142955 [GRCh38]
Chr13:20717094 [GRCh37]
Chr13:13q12.11		 benign|conflicting interpretations of pathogenicity
NM_021954.4(GJA3):c.261G>A (p.Thr87=) single nucleotide variant Cataract 14 multiple types [RCV001109414] Chr13:20143028 [GRCh38]
Chr13:20717167 [GRCh37]
Chr13:13q12.11		 benign
NM_021954.4(GJA3):c.78G>A (p.Leu26=) single nucleotide variant Cataract 14 multiple types [RCV001109415] Chr13:20143211 [GRCh38]
Chr13:20717350 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.902C>T (p.Ala301Val) single nucleotide variant Cataract 14 multiple types [RCV001112098] Chr13:20142387 [GRCh38]
Chr13:20716526 [GRCh37]
Chr13:13q12.11		 uncertain significance
GRCh37/hg19 13q12.11(chr13:20485792-20715534)x3 copy number gain not provided [RCV001260186] Chr13:20485792..20715534 [GRCh37]
Chr13:13q12.11		 uncertain significance
GRCh37/hg19 13p13-q34(chr13:1-115169878) copy number gain Complete trisomy 13 syndrome [RCV002280659] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34		 pathogenic
NM_021954.4(GJA3):c.44A>G (p.Gln15Arg) single nucleotide variant Cataract 14 multiple types [RCV001371283] Chr13:20143245 [GRCh38]
Chr13:20717384 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.184G>A (p.Glu62Lys) single nucleotide variant Cataract 14 multiple types [RCV001542775]|not provided [RCV001797193] Chr13:20143105 [GRCh38]
Chr13:20717244 [GRCh37]
Chr13:13q12.11		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_021954.4(GJA3):c.148T>C (p.Ser50Pro) single nucleotide variant Cataract 14 multiple types [RCV001542776] Chr13:20143141 [GRCh38]
Chr13:20717280 [GRCh37]
Chr13:13q12.11		 likely pathogenic
NM_021954.4(GJA3):c.1086C>A (p.Leu362=) single nucleotide variant Cataract 14 multiple types [RCV001513958]|GJA3-related disorder [RCV004756261]|not provided [RCV004707638] Chr13:20142203 [GRCh38]
Chr13:20716342 [GRCh37]
Chr13:13q12.11		 benign
NM_021954.4(GJA3):c.1079C>G (p.Pro360Arg) single nucleotide variant not provided [RCV001726894] Chr13:20142210 [GRCh38]
Chr13:20716349 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.43C>A (p.Gln15Lys) single nucleotide variant Cataract 14 multiple types [RCV004590363]|Developmental cataract [RCV001775017] Chr13:20143246 [GRCh38]
Chr13:20717385 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.1082_1088del (p.Pro361fs) deletion not provided [RCV001726893] Chr13:20142201..20142207 [GRCh38]
Chr13:20716340..20716346 [GRCh37]
Chr13:13q12.11		 likely pathogenic
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3 copy number gain See cases [RCV001780076] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34		 pathogenic
NM_021954.4(GJA3):c.161G>A (p.Cys54Tyr) single nucleotide variant not provided [RCV001765258] Chr13:20143128 [GRCh38]
Chr13:20717267 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.1070G>A (p.Ser357Asn) single nucleotide variant not provided [RCV001757162] Chr13:20142219 [GRCh38]
Chr13:20716358 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.151G>C (p.Asp51His) single nucleotide variant Cataract 14 multiple types [RCV001971221]|not provided [RCV003312032] Chr13:20143138 [GRCh38]
Chr13:20717277 [GRCh37]
Chr13:13q12.11		 likely pathogenic
NM_021954.4(GJA3):c.563A>G (p.Asn188Ser) single nucleotide variant Cataract 14 multiple types [RCV001837018] Chr13:20142726 [GRCh38]
Chr13:20716865 [GRCh37]
Chr13:13q12.11		 likely pathogenic|uncertain significance
NM_021954.4(GJA3):c.226C>T (p.Arg76Cys) single nucleotide variant Cataract 14 multiple types [RCV001988373]|not provided [RCV003232506] Chr13:20143063 [GRCh38]
Chr13:20717202 [GRCh37]
Chr13:13q12.11		 likely pathogenic|uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-114981726) copy number gain not specified [RCV002053035] Chr13:19436286..114981726 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_021954.4(GJA3):c.392C>T (p.Ser131Leu) single nucleotide variant Cataract 14 multiple types [RCV002006546] Chr13:20142897 [GRCh38]
Chr13:20717036 [GRCh37]
Chr13:13q12.11		 uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-115107733) copy number gain not specified [RCV002053036] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV001834436] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_021954.4(GJA3):c.595G>A (p.Glu199Lys) single nucleotide variant Cataract 14 multiple types [RCV001883260]|GJA3-related disorder [RCV004731191] Chr13:20142694 [GRCh38]
Chr13:20716833 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.178G>A (p.Gly60Ser) single nucleotide variant Cataract 14 multiple types [RCV002049782] Chr13:20143111 [GRCh38]
Chr13:20717250 [GRCh37]
Chr13:13q12.11		 likely pathogenic
NM_021954.4(GJA3):c.655A>G (p.Met219Val) single nucleotide variant Cataract 14 multiple types [RCV001925926]|not provided [RCV004693951] Chr13:20142634 [GRCh38]
Chr13:20716773 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.98G>T (p.Arg33Leu) single nucleotide variant Cataract 14 multiple types [RCV002071031] Chr13:20143191 [GRCh38]
Chr13:20717330 [GRCh37]
Chr13:13q12.11		 likely pathogenic
NM_021954.4(GJA3):c.559C>T (p.Pro187Ser) single nucleotide variant Cataract 14 multiple types [RCV002227584] Chr13:20142730 [GRCh38]
Chr13:20716869 [GRCh37]
Chr13:13q12.11		 likely pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3 copy number gain not provided [RCV002291540] Chr13:19253848..115108937 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_021954.4(GJA3):c.-17-245_-17-235del deletion not provided [RCV002286106] Chr13:20143540..20143550 [GRCh38]
Chr13:20717679..20717689 [GRCh37]
Chr13:13q12.11		 likely benign
NM_021954.4(GJA3):c.-17-234_-17-233insAGGAA insertion not provided [RCV002285885] Chr13:20143538..20143539 [GRCh38]
Chr13:20717677..20717678 [GRCh37]
Chr13:13q12.11		 likely benign
NM_021954.4(GJA3):c.136G>T (p.Gly46Cys) single nucleotide variant Cataract 14 multiple types [RCV002305352] Chr13:20143153 [GRCh38]
Chr13:20717292 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.196T>C (p.Tyr66His) single nucleotide variant Cataract 14 multiple types [RCV002947206] Chr13:20143093 [GRCh38]
Chr13:20717232 [GRCh37]
Chr13:13q12.11		 likely pathogenic
NM_021954.4(GJA3):c.1048G>A (p.Ala350Thr) single nucleotide variant Cataract 14 multiple types [RCV003076454] Chr13:20142241 [GRCh38]
Chr13:20716380 [GRCh37]
Chr13:13q12.11		 uncertain significance
GRCh37/hg19 13q11-12.11(chr13:19436287-22089005)x1 copy number loss not provided [RCV002475689] Chr13:19436287..22089005 [GRCh37]
Chr13:13q11-12.11		 pathogenic
NM_021954.4(GJA3):c.1303A>G (p.Ile435Val) single nucleotide variant Inborn genetic diseases [RCV002905193] Chr13:20141986 [GRCh38]
Chr13:20716125 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.1203G>A (p.Ala401=) single nucleotide variant Cataract 14 multiple types [RCV002882100] Chr13:20142086 [GRCh38]
Chr13:20716225 [GRCh37]
Chr13:13q12.11		 likely benign|uncertain significance
NM_021954.4(GJA3):c.539G>A (p.Arg180His) single nucleotide variant Inborn genetic diseases [RCV002822527] Chr13:20142750 [GRCh38]
Chr13:20716889 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.565A>C (p.Thr189Pro) single nucleotide variant Inborn genetic diseases [RCV002799473] Chr13:20142724 [GRCh38]
Chr13:20716863 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.673C>G (p.Leu225Val) single nucleotide variant Cataract 14 multiple types [RCV002926920] Chr13:20142616 [GRCh38]
Chr13:20716755 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.905T>G (p.Leu302Arg) single nucleotide variant Cataract 14 multiple types [RCV002958596]|GJA3-related disorder [RCV003409988]|Inborn genetic diseases [RCV004068065] Chr13:20142384 [GRCh38]
Chr13:20716523 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.487T>A (p.Phe163Ile) single nucleotide variant Inborn genetic diseases [RCV002767013] Chr13:20142802 [GRCh38]
Chr13:20716941 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.245T>A (p.Ile82Asn) single nucleotide variant Inborn genetic diseases [RCV002788669] Chr13:20143044 [GRCh38]
Chr13:20717183 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.609C>A (p.Phe203Leu) single nucleotide variant Cataract 14 multiple types [RCV002893878] Chr13:20142680 [GRCh38]
Chr13:20716819 [GRCh37]
Chr13:13q12.11		 pathogenic
NM_021954.4(GJA3):c.919G>A (p.Gly307Arg) single nucleotide variant Inborn genetic diseases [RCV003219481] Chr13:20142370 [GRCh38]
Chr13:20716509 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.1061C>T (p.Pro354Leu) single nucleotide variant Inborn genetic diseases [RCV003209926] Chr13:20142228 [GRCh38]
Chr13:20716367 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.1202C>T (p.Ala401Val) single nucleotide variant Inborn genetic diseases [RCV003198229] Chr13:20142087 [GRCh38]
Chr13:20716226 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.1207C>G (p.Gln403Glu) single nucleotide variant Inborn genetic diseases [RCV003205265] Chr13:20142082 [GRCh38]
Chr13:20716221 [GRCh37]
Chr13:13q12.11		 likely benign
NM_021954.4(GJA3):c.721G>A (p.Asp241Asn) single nucleotide variant Inborn genetic diseases [RCV003367663] Chr13:20142568 [GRCh38]
Chr13:20716707 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.848G>A (p.Arg283His) single nucleotide variant Inborn genetic diseases [RCV003367301] Chr13:20142441 [GRCh38]
Chr13:20716580 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.1192G>A (p.Val398Met) single nucleotide variant Inborn genetic diseases [RCV003376179] Chr13:20142097 [GRCh38]
Chr13:20716236 [GRCh37]
Chr13:13q12.11		 uncertain significance
GRCh37/hg19 13q12.11(chr13:20733790-20882001)x3 copy number gain not provided [RCV003484888] Chr13:20733790..20882001 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.864C>G (p.Pro288=) single nucleotide variant not provided [RCV003398326] Chr13:20142425 [GRCh38]
Chr13:20716564 [GRCh37]
Chr13:13q12.11		 likely benign
NM_021954.4(GJA3):c.20T>C (p.Leu7Pro) single nucleotide variant not provided [RCV003442449] Chr13:20143269 [GRCh38]
Chr13:20717408 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.868del (p.Ala290fs) deletion Cataract 14 multiple types [RCV003518333] Chr13:20142421 [GRCh38]
Chr13:20716560 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.707G>A (p.Ser236Asn) single nucleotide variant Cataract 14 multiple types [RCV003518472] Chr13:20142582 [GRCh38]
Chr13:20716721 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.189C>A (p.Asn63Lys) single nucleotide variant Cataract 14 multiple types [RCV003517910] Chr13:20143100 [GRCh38]
Chr13:20717239 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.447C>A (p.Tyr149Ter) single nucleotide variant Cataract 14 multiple types [RCV003517812] Chr13:20142842 [GRCh38]
Chr13:20716981 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.618C>G (p.Phe206Leu) single nucleotide variant Cataract 14 multiple types [RCV003516807] Chr13:20142671 [GRCh38]
Chr13:20716810 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.210C>G (p.Phe70Leu) single nucleotide variant Cataract 14 multiple types [RCV003631309] Chr13:20143079 [GRCh38]
Chr13:20717218 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.766C>G (p.Pro256Ala) single nucleotide variant Cataract 14 multiple types [RCV003632457] Chr13:20142523 [GRCh38]
Chr13:20716662 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.1107C>T (p.Gly369=) single nucleotide variant Cataract 14 multiple types [RCV003632847] Chr13:20142182 [GRCh38]
Chr13:20716321 [GRCh37]
Chr13:13q12.11		 likely benign
NM_021954.4(GJA3):c.7G>T (p.Asp3Tyr) single nucleotide variant Cataract 14 multiple types [RCV003518792] Chr13:20143282 [GRCh38]
Chr13:20717421 [GRCh37]
Chr13:13q12.11		 pathogenic|likely pathogenic
NM_021954.4(GJA3):c.543C>A (p.Cys181Ter) single nucleotide variant Cataract 14 multiple types [RCV003811989] Chr13:20142746 [GRCh38]
Chr13:20716885 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.30_31del (p.Leu11fs) microsatellite Cataract 14 multiple types [RCV003631604] Chr13:20143258..20143259 [GRCh38]
Chr13:20717397..20717398 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.519C>T (p.Phe173=) single nucleotide variant Cataract 14 multiple types [RCV003815174] Chr13:20142770 [GRCh38]
Chr13:20716909 [GRCh37]
Chr13:13q12.11		 likely benign
NM_021954.4(GJA3):c.175C>G (p.Pro59Ala) single nucleotide variant Cataract 14 multiple types [RCV003990000] Chr13:20143114 [GRCh38]
Chr13:20717253 [GRCh37]
Chr13:13q12.11		 pathogenic
GRCh37/hg19 13q11-13.3(chr13:19436287-36278224)x3 copy number gain not provided [RCV004442747] Chr13:19436287..36278224 [GRCh37]
Chr13:13q11-13.3		 uncertain significance
GRCh37/hg19 13q12.11(chr13:19748336-20797299)x3 copy number gain not provided [RCV004442823] Chr13:19748336..20797299 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.376C>G (p.Pro126Ala) single nucleotide variant GJA3-related disorder [RCV003936858] Chr13:20142913 [GRCh38]
Chr13:20717052 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.297C>G (p.Ile99Met) single nucleotide variant GJA3-related disorder [RCV003893942] Chr13:20142992 [GRCh38]
Chr13:20717131 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.*5C>T single nucleotide variant GJA3-related disorder [RCV003949269] Chr13:20141976 [GRCh38]
Chr13:20716115 [GRCh37]
Chr13:13q12.11		 likely benign
NM_021954.4(GJA3):c.323_326del (p.Glu108fs) microsatellite GJA3-related disorder [RCV003954918] Chr13:20142963..20142966 [GRCh38]
Chr13:20717102..20717105 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.463T>G (p.Phe155Val) single nucleotide variant Inborn genetic diseases [RCV004390772] Chr13:20142826 [GRCh38]
Chr13:20716965 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.68A>G (p.Lys23Arg) single nucleotide variant Inborn genetic diseases [RCV004390773] Chr13:20143221 [GRCh38]
Chr13:20717360 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.1063G>T (p.Val355Phe) single nucleotide variant Inborn genetic diseases [RCV004390769] Chr13:20142226 [GRCh38]
Chr13:20716365 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.1079C>A (p.Pro360Gln) single nucleotide variant Inborn genetic diseases [RCV004390770] Chr13:20142210 [GRCh38]
Chr13:20716349 [GRCh37]
Chr13:13q12.11		 likely benign
NM_021954.4(GJA3):c.125A>C (p.Glu42Ala) single nucleotide variant Cataract 14 multiple types [RCV004593607] Chr13:20143164 [GRCh38]
Chr13:20717303 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.142G>A (p.Glu48Lys) single nucleotide variant Cataract 14 multiple types [RCV004593610] Chr13:20143147 [GRCh38]
Chr13:20717286 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.199G>C (p.Asp67His) single nucleotide variant Cataract 14 multiple types [RCV004593613] Chr13:20143090 [GRCh38]
Chr13:20717229 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.32T>C (p.Leu11Ser) single nucleotide variant Cataract 14 multiple types [RCV004593625] Chr13:20143257 [GRCh38]
Chr13:20717396 [GRCh37]
Chr13:13q12.11		 likely pathogenic
NM_021954.4(GJA3):c.1143_1165del (p.Ser381fs) deletion Cataract 14 multiple types [RCV004593627] Chr13:20142124..20142146 [GRCh38]
Chr13:20716263..20716285 [GRCh37]
Chr13:13q12.11		 likely pathogenic
NM_021954.4(GJA3):c.1197dup (p.Thr400fs) duplication Cataract 14 multiple types [RCV004593630] Chr13:20142091..20142092 [GRCh38]
Chr13:20716230..20716231 [GRCh37]
Chr13:13q12.11		 likely pathogenic
NM_021954.4(GJA3):c.82G>T (p.Val28Leu) single nucleotide variant Cataract 14 multiple types [RCV004593647] Chr13:20143207 [GRCh38]
Chr13:20717346 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.253G>A (p.Val85Met) single nucleotide variant Inborn genetic diseases [RCV004390771] Chr13:20143036 [GRCh38]
Chr13:20717175 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.134G>C (p.Trp45Ser) single nucleotide variant Cataract 14 multiple types [RCV004593608] Chr13:20143155 [GRCh38]
Chr13:20717294 [GRCh37]
Chr13:13q12.11		 likely pathogenic
NM_021954.4(GJA3):c.596A>C (p.Glu199Ala) single nucleotide variant Cataract 14 multiple types [RCV004593622] Chr13:20142693 [GRCh38]
Chr13:20716832 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.64G>A (p.Gly22Ser) single nucleotide variant Cataract 14 multiple types [RCV004593641] Chr13:20143225 [GRCh38]
Chr13:20717364 [GRCh37]
Chr13:13q12.11		 likely pathogenic
NM_021954.4(GJA3):c.92T>A (p.Ile31Asn) single nucleotide variant Cataract 14 multiple types [RCV004593593] Chr13:20143197 [GRCh38]
Chr13:20717336 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.139G>A (p.Asp47Asn) single nucleotide variant Cataract 14 multiple types [RCV004593609] Chr13:20143150 [GRCh38]
Chr13:20717289 [GRCh37]
Chr13:13q12.11		 likely pathogenic
NM_021954.4(GJA3):c.200A>G (p.Asp67Gly) single nucleotide variant Cataract 14 multiple types [RCV004593614] Chr13:20143089 [GRCh38]
Chr13:20717228 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.226C>G (p.Arg76Gly) single nucleotide variant Cataract 14 multiple types [RCV004593615] Chr13:20143063 [GRCh38]
Chr13:20717202 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.290T>G (p.Leu97Arg) single nucleotide variant Cataract 14 multiple types [RCV004593617] Chr13:20142999 [GRCh38]
Chr13:20717138 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.428G>A (p.Gly143Glu) single nucleotide variant Cataract 14 multiple types [RCV004593618] Chr13:20142861 [GRCh38]
Chr13:20717000 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.950dup (p.His318fs) duplication Cataract 14 multiple types [RCV004593626] Chr13:20142338..20142339 [GRCh38]
Chr13:20716477..20716478 [GRCh37]
Chr13:13q12.11		 likely pathogenic
NM_021954.4(GJA3):c.1A>G (p.Met1Val) single nucleotide variant Cataract 14 multiple types [RCV004593583] Chr13:20143288 [GRCh38]
Chr13:20717427 [GRCh37]
Chr13:13q12.11		 likely pathogenic
NM_021954.4(GJA3):c.96C>A (p.Phe32Leu) single nucleotide variant Cataract 14 multiple types [RCV004593597] Chr13:20143193 [GRCh38]
Chr13:20717332 [GRCh37]
Chr13:13q12.11		 likely pathogenic
NM_021954.4(GJA3):c.578T>C (p.Phe193Ser) single nucleotide variant Cataract 14 multiple types [RCV004593619] Chr13:20142711 [GRCh38]
Chr13:20716850 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.1189dup (p.Ala397fs) duplication Cataract 14 multiple types [RCV004593629] Chr13:20142099..20142100 [GRCh38]
Chr13:20716238..20716239 [GRCh37]
Chr13:13q12.11		 uncertain significance
NC_000013.10:g.(?_20472281)_(24052335_?)del deletion not provided [RCV004578334] Chr13:20472281..24052335 [GRCh37]
Chr13:13q12.11-12.12		 pathogenic
NM_021954.4(GJA3):c.143A>G (p.Glu48Gly) single nucleotide variant Cataract 14 multiple types [RCV004593611] Chr13:20143146 [GRCh38]
Chr13:20717285 [GRCh37]
Chr13:13q12.11		 likely pathogenic
NM_021954.4(GJA3):c.163A>G (p.Asn55Asp) single nucleotide variant Cataract 14 multiple types [RCV004593612] Chr13:20143126 [GRCh38]
Chr13:20717265 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.268C>T (p.Leu90Phe) single nucleotide variant Cataract 14 multiple types [RCV004593616] Chr13:20143021 [GRCh38]
Chr13:20717160 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.589C>T (p.Pro197Ser) single nucleotide variant Cataract 14 multiple types [RCV004593621] Chr13:20142700 [GRCh38]
Chr13:20716839 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.771dup (p.Ser258fs) duplication Cataract 14 multiple types [RCV004593623] Chr13:20142517..20142518 [GRCh38]
Chr13:20716656..20716657 [GRCh37]
Chr13:13q12.11		 likely pathogenic
NM_021954.4(GJA3):c.584C>T (p.Ser195Phe) single nucleotide variant Cataract 14 multiple types [RCV004593620] Chr13:20142705 [GRCh38]
Chr13:20716844 [GRCh37]
Chr13:13q12.11		 likely pathogenic
NM_021954.4(GJA3):c.815_817dup (p.Tyr272_Ala273insAsp) duplication Cataract 14 multiple types [RCV004593624] Chr13:20142471..20142472 [GRCh38]
Chr13:20716610..20716611 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.1152dup (p.Ser385fs) duplication Cataract 14 multiple types [RCV004593628] Chr13:20142136..20142137 [GRCh38]
Chr13:20716275..20716276 [GRCh37]
Chr13:13q12.11		 likely pathogenic
NC_000013.10:g.(?_20716120)_(21219117_?)dup duplication not provided [RCV004578350] Chr13:20716120..21219117 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.715G>A (p.Gly239Ser) single nucleotide variant Inborn genetic diseases [RCV004627113] Chr13:20142574 [GRCh38]
Chr13:20716713 [GRCh37]
Chr13:13q12.11		 likely benign
NM_021954.4(GJA3):c.406C>T (p.Arg136Cys) single nucleotide variant Inborn genetic diseases [RCV004627114] Chr13:20142883 [GRCh38]
Chr13:20717022 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.742G>T (p.Gly248Trp) single nucleotide variant Inborn genetic diseases [RCV004627115] Chr13:20142547 [GRCh38]
Chr13:20716686 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.635G>A (p.Cys212Tyr) single nucleotide variant Inborn genetic diseases [RCV004627116] Chr13:20142654 [GRCh38]
Chr13:20716793 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.1304T>C (p.Ile435Thr) single nucleotide variant Inborn genetic diseases [RCV004627112] Chr13:20141985 [GRCh38]
Chr13:20716124 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.1006C>T (p.Gln336Ter) single nucleotide variant not provided [RCV004763146]   uncertain significance
NM_021954.4(GJA3):c.562A>T (p.Asn188Tyr) single nucleotide variant GJA3-related disorder [RCV004756620] Chr13:20142727 [GRCh38]
Chr13:20716866 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_021954.4(GJA3):c.65G>T (p.Gly22Val) single nucleotide variant GJA3-related disorder [RCV004732366] Chr13:20143224 [GRCh38]
Chr13:20717363 [GRCh37]
Chr13:13q12.11		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1340
Count of miRNA genes:830
Interacting mature miRNAs:947
Transcripts:ENST00000241125
Prediction methods:Miranda, 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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406905776GWAS554752_HS-6-hydroxywarfarin measurement QTL GWAS554752 (human)0.0000003S-6-hydroxywarfarin measurement132015348920153490Human
406894984GWAS543960_Hfacial emotion recognition measurement QTL GWAS543960 (human)0.000003facial emotion recognition measurement132015043320150434Human
406981407GWAS630383_Hpericalcarine cortex volume measurement QTL GWAS630383 (human)0.000008occipital lobe morphology trait (VT:0000804)132015395120153952Human

Markers in Region
D13S141  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371320,724,459 - 20,724,584UniSTSGRCh37
Build 361319,622,459 - 19,622,584RGDNCBI36
Celera131,786,266 - 1,786,391RGD
Cytogenetic Map13q12.11UniSTS
HuRef131,529,906 - 1,530,029UniSTS
UniSTS:480636  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371320,716,120 - 20,717,427UniSTSGRCh37
Celera131,777,929 - 1,779,236UniSTS
HuRef131,521,569 - 1,522,876UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
919 1791 2208 2136 4036 1245 1842 4 385 1471 253 1986 5585 5349 44 2864 710 1604 1347 148 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF075290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL138688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC121137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF726530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR003755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT966396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT966397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT966398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT966399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX119953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX119954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX545271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX545272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC730524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000241125   ⟹   ENSP00000241125
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1320,138,255 - 20,161,052 (-)Ensembl
RefSeq Acc Id: NM_021954   ⟹   NP_068773
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381320,138,255 - 20,161,052 (-)NCBI
GRCh371320,712,394 - 20,735,524 (-)NCBI
Build 361319,610,394 - 19,633,183 (-)NCBI Archive
HuRef131,517,843 - 1,540,632 (-)ENTREZGENE
CHM1_11320,680,889 - 20,703,688 (-)NCBI
T2T-CHM13v2.01319,334,689 - 19,357,484 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011535048   ⟹   XP_011533350
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381320,138,255 - 20,161,565 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054374462   ⟹   XP_054230437
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01319,334,689 - 19,357,997 (-)NCBI
RefSeq Acc Id: NP_068773   ⟸   NM_021954
- UniProtKB: Q0VAB7 (UniProtKB/Swiss-Prot),   Q9H537 (UniProtKB/Swiss-Prot),   Q9Y6H8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011533350   ⟸   XM_011535048
- Peptide Label: isoform X1
- UniProtKB: Q0VAB7 (UniProtKB/Swiss-Prot),   Q9H537 (UniProtKB/Swiss-Prot),   Q9Y6H8 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000241125   ⟸   ENST00000241125
RefSeq Acc Id: XP_054230437   ⟸   XM_054374462
- Peptide Label: isoform X1
- UniProtKB: A0A654IE12 (UniProtKB/TrEMBL)
Protein Domains
Connexin N-terminal   Gap junction protein cysteine-rich

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y6H8-F1-model_v2 AlphaFold Q9Y6H8 1-435 view protein structure

Promoters
RGD ID:6790888
Promoter ID:HG_KWN:17194
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Lymphoblastoid
Transcripts:OTTHUMT00000044059
Position:
Human AssemblyChrPosition (strand)Source
Build 361319,633,191 - 19,633,972 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4277 AgrOrtholog
COSMIC GJA3 COSMIC
Ensembl Genes ENSG00000121743 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000241125 ENTREZGENE
  ENST00000241125.4 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.1440.80 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000121743 GTEx
HGNC ID HGNC:4277 ENTREZGENE
Human Proteome Map GJA3 Human Proteome Map
InterPro Connexin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Connexin46 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Connexin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Connexin_CCC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Connexin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Connexin_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Connexin_N_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2700 UniProtKB/Swiss-Prot
NCBI Gene 2700 ENTREZGENE
OMIM 121015 OMIM
PANTHER PTHR11984 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11984:SF12 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Connexin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28688 PharmGKB
PRINTS CONNEXIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CONNEXINA3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CONNEXINS_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CONNEXINS_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CNX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Connexin_CCC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Connexin43 UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
UniProt A0A140CTW5_HUMAN UniProtKB/TrEMBL
  A0A140CTW6_HUMAN UniProtKB/TrEMBL
  A0A140CTW7_HUMAN UniProtKB/TrEMBL
  A0A140CTW8_HUMAN UniProtKB/TrEMBL
  A0A1B1PFX4_HUMAN UniProtKB/TrEMBL
  A0A1B1PFX6_HUMAN UniProtKB/TrEMBL
  A0A1B3B2J5_HUMAN UniProtKB/TrEMBL
  A0A1B3B2J9_HUMAN UniProtKB/TrEMBL
  A0A654IE12 ENTREZGENE, UniProtKB/TrEMBL
  CXA3_HUMAN UniProtKB/Swiss-Prot
  Q0VAB7 ENTREZGENE
  Q9H537 ENTREZGENE
  Q9Y6H8 ENTREZGENE
UniProt Secondary Q0VAB7 UniProtKB/Swiss-Prot
  Q9H537 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-22 GJA3  gap junction protein alpha 3  CZP2  cataract, zonular pulverulent 2  Data merged from RGD:1354363 737654 PROVISIONAL
2015-11-17 GJA3  gap junction protein alpha 3    gap junction protein, alpha 3, 46kDa  Symbol and/or name change 5135510 APPROVED