FAM20A (FAM20A golgi associated secretory pathway pseudokinase) - Rat Genome Database

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Gene: FAM20A (FAM20A golgi associated secretory pathway pseudokinase) Homo sapiens
Analyze
Symbol: FAM20A
Name: FAM20A golgi associated secretory pathway pseudokinase
RGD ID: 1314939
HGNC Page HGNC:23015
Description: Enables protein serine/threonine kinase activator activity. Involved in calcium ion homeostasis; odontogenesis; and positive regulation of protein phosphorylation. Located in Golgi apparatus and extracellular space. Implicated in amelogenesis imperfecta type 1G.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AI1G; AIGFS; DKFZp434F2322; FAM20A, golgi associated secretory pathway pseudokinase; family with sequence similarity 20 member A; family with sequence similarity 20, member A; FP2747; pseudokinase FAM20A
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
GRCh381768,535,116 - 68,601,367 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1768,535,113 - 68,601,367 (-)EnsemblGRCh38hg38GRCh38
GRCh371766,531,257 - 66,597,508 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361764,044,860 - 64,108,690 (-)NCBINCBI36Build 36hg18NCBI36
Build 341764,044,859 - 64,108,690NCBI
Celera1763,103,046 - 63,168,874 (-)NCBICelera
Cytogenetic Map17q24.2NCBI
HuRef1761,916,991 - 61,982,775 (-)NCBIHuRef
CHM1_11766,596,013 - 66,662,169 (-)NCBICHM1_1
T2T-CHM13v2.01769,411,970 - 69,478,232 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Biological Process

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:12477932   PMID:12975309   PMID:14702039   PMID:15676076   PMID:16344560   PMID:19199708   PMID:21549343   PMID:21873635   PMID:21990045   PMID:22582013   PMID:23185530   PMID:23434854  
PMID:23468644   PMID:23697977   PMID:24196488   PMID:24259279   PMID:25789606   PMID:28298625   PMID:29439260   PMID:29745815   PMID:30120606   PMID:30394349   PMID:32246227   PMID:32835847  
PMID:35256949   PMID:37159186  


Genomics

Comparative Map Data
FAM20A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381768,535,116 - 68,601,367 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1768,535,113 - 68,601,367 (-)EnsemblGRCh38hg38GRCh38
GRCh371766,531,257 - 66,597,508 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361764,044,860 - 64,108,690 (-)NCBINCBI36Build 36hg18NCBI36
Build 341764,044,859 - 64,108,690NCBI
Celera1763,103,046 - 63,168,874 (-)NCBICelera
Cytogenetic Map17q24.2NCBI
HuRef1761,916,991 - 61,982,775 (-)NCBIHuRef
CHM1_11766,596,013 - 66,662,169 (-)NCBICHM1_1
T2T-CHM13v2.01769,411,970 - 69,478,232 (-)NCBIT2T-CHM13v2.0
Fam20a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911109,563,752 - 109,613,989 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl11109,560,575 - 109,613,105 (-)EnsemblGRCm39 Ensembl
GRCm3811109,669,746 - 109,723,163 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11109,669,749 - 109,722,279 (-)EnsemblGRCm38mm10GRCm38
MGSCv3711109,534,240 - 109,583,570 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3611109,489,016 - 109,538,346 (-)NCBIMGSCv36mm8
Celera11121,411,437 - 121,460,788 (-)NCBICelera
Cytogenetic Map11E1NCBI
cM Map1172.37NCBI
Fam20a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21094,638,836 - 94,697,814 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1094,642,850 - 94,697,672 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1099,700,773 - 99,754,553 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01099,163,851 - 99,217,638 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01094,573,768 - 94,627,735 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01097,962,467 - 98,017,171 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1097,962,693 - 98,018,014 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01097,676,935 - 97,731,346 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41099,113,846 - 99,170,601 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11099,128,215 - 99,184,971 (-)NCBI
Celera1093,301,687 - 93,354,956 (-)NCBICelera
Cytogenetic Map10q32.1NCBI
Fam20a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554784,182,568 - 4,236,819 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554784,182,568 - 4,236,819 (+)NCBIChiLan1.0ChiLan1.0
FAM20A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan11789,382,665 - 89,450,156 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01762,474,317 - 62,537,800 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11767,863,696 - 67,927,152 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1767,864,331 - 67,927,128 (-)Ensemblpanpan1.1panPan2
FAM20A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1915,205,887 - 15,218,873 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl915,207,300 - 15,230,447 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha916,099,687 - 16,148,637 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0916,869,162 - 16,918,170 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl916,869,235 - 16,918,839 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1915,814,064 - 15,862,997 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0911,670,022 - 11,719,172 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0911,670,116 - 11,719,124 (+)NCBIUU_Cfam_GSD_1.0
Fam20a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560211,279,020 - 11,326,742 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365417,867,303 - 7,916,154 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365417,867,856 - 7,916,145 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FAM20A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1211,607,034 - 11,657,737 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11211,606,469 - 11,663,086 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21212,098,062 - 12,124,101 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FAM20A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11652,955,411 - 53,017,263 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1652,955,714 - 53,016,909 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607723,883,015 - 23,945,225 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fam20a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248703,577,386 - 3,632,967 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248703,576,995 - 3,632,964 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FAM20A
175 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_017565.4(FAM20A):c.34_35del (p.Leu12fs) microsatellite Amelogenesis imperfecta type 1G [RCV000029150] Chr17:68600632..68600633 [GRCh38]
Chr17:66596773..66596774 [GRCh37]
Chr17:17q24.2
pathogenic
NM_017565.4(FAM20A):c.813-2A>G single nucleotide variant Amelogenesis imperfecta type 1G [RCV000029151] Chr17:68542811 [GRCh38]
Chr17:66538952 [GRCh37]
Chr17:17q24.2
pathogenic
NM_017565.4(FAM20A):c.1175_1179del (p.Arg392fs) deletion Amelogenesis imperfecta type 1G [RCV000029152] Chr17:68540889..68540893 [GRCh38]
Chr17:66537030..66537034 [GRCh37]
Chr17:17q24.2
pathogenic
NM_017565.4(FAM20A):c.590-2A>G single nucleotide variant Amelogenesis imperfecta type 1G [RCV000029153] Chr17:68554829 [GRCh38]
Chr17:66550970 [GRCh37]
Chr17:17q24.2
pathogenic
NM_017565.4(FAM20A):c.406C>T (p.Arg136Ter) single nucleotide variant Amelogenesis imperfecta type 1G [RCV000023864]|not provided [RCV002513210] Chr17:68555742 [GRCh38]
Chr17:66551883 [GRCh37]
Chr17:17q24.2
pathogenic
NM_017565.4(FAM20A):c.826C>T (p.Arg276Ter) single nucleotide variant Amelogenesis imperfecta type 1G [RCV000029154] Chr17:68542796 [GRCh38]
Chr17:66538937 [GRCh37]
Chr17:17q24.2
pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3
pathogenic
GRCh38/hg38 17q24.2-24.3(chr17:67833866-70085854)x1 copy number loss See cases [RCV000053452] Chr17:67833866..70085854 [GRCh38]
Chr17:65829982..68081995 [GRCh37]
Chr17:63260444..65593590 [NCBI36]
Chr17:17q24.2-24.3
pathogenic
NM_017565.3(FAM20A):c.407G>A (p.Arg136Gln) single nucleotide variant Malignant melanoma [RCV000071632] Chr17:68555741 [GRCh38]
Chr17:66551882 [GRCh37]
Chr17:64063477 [NCBI36]
Chr17:17q24.2
not provided
NM_017565.4(FAM20A):c.1171C>T (p.Gln391Ter) single nucleotide variant Amelogenesis imperfecta type 1G [RCV001781078] Chr17:68540897 [GRCh38]
Chr17:66537038 [GRCh37]
Chr17:17q24.2
likely pathogenic
NM_017565.4(FAM20A):c.720-2A>G single nucleotide variant Amelogenesis imperfecta type 1G [RCV000128612] Chr17:68543723 [GRCh38]
Chr17:66539864 [GRCh37]
Chr17:17q24.2
pathogenic
NM_017565.4(FAM20A):c.1432C>T (p.Arg478Ter) single nucleotide variant Amelogenesis imperfecta type 1G [RCV000128613] Chr17:68537671 [GRCh38]
Chr17:66533812 [GRCh37]
Chr17:17q24.2
pathogenic
NM_017565.4(FAM20A):c.612del (p.Leu205fs) deletion Amelogenesis imperfecta type 1G [RCV000128614] Chr17:68554805 [GRCh38]
Chr17:66550946 [GRCh37]
Chr17:17q24.2
pathogenic
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1
pathogenic
GRCh38/hg38 17q24.2(chr17:67584224-68639875)x1 copy number loss See cases [RCV000138379] Chr17:67584224..68639875 [GRCh38]
Chr17:65580340..66636016 [GRCh37]
Chr17:63010802..64147611 [NCBI36]
Chr17:17q24.2
pathogenic
GRCh38/hg38 17q24.2-24.3(chr17:68420514-71351235)x1 copy number loss See cases [RCV000143113] Chr17:68420514..71351235 [GRCh38]
Chr17:66416655..69347376 [GRCh37]
Chr17:63928250..66858971 [NCBI36]
Chr17:17q24.2-24.3
pathogenic
Single allele deletion Large for gestational age [RCV000161828] Chr17:68569922..68585365 [GRCh38]
Chr17:66566063..66581506 [GRCh37]
Chr17:17q24.2
not provided
NM_017565.4(FAM20A):c.996C>A (p.Asn332Lys) single nucleotide variant Amelogenesis imperfecta type 1G [RCV001702398]|not provided [RCV001512679]|not specified [RCV000246398] Chr17:68542098 [GRCh38]
Chr17:66538239 [GRCh37]
Chr17:17q24.2
benign
NM_017565.4(FAM20A):c.39G>A (p.Leu13=) single nucleotide variant not provided [RCV001516236]|not specified [RCV000254180] Chr17:68600628 [GRCh38]
Chr17:66596769 [GRCh37]
Chr17:17q24.2
benign
NM_017565.4(FAM20A):c.345G>A (p.Ser115=) single nucleotide variant not provided [RCV001520150]|not specified [RCV000249401] Chr17:68600322 [GRCh38]
Chr17:66596463 [GRCh37]
Chr17:17q24.2
benign
NM_017565.4(FAM20A):c.1589T>C (p.Leu530Ser) single nucleotide variant Amelogenesis imperfecta type 1G [RCV001701971]|not provided [RCV001512678]|not specified [RCV000243426] Chr17:68537514 [GRCh38]
Chr17:66533655 [GRCh37]
Chr17:17q24.2
benign
NM_017565.4(FAM20A):c.1294G>A (p.Ala432Thr) single nucleotide variant Amelogenesis imperfecta type 1G [RCV002489195]|not provided [RCV000489649] Chr17:68539892 [GRCh38]
Chr17:66536033 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.1219+2T>C single nucleotide variant Amelogenesis imperfecta type 1G [RCV001781077] Chr17:68540847 [GRCh38]
Chr17:66536988 [GRCh37]
Chr17:17q24.2
likely pathogenic
NM_017565.4(FAM20A):c.1511C>T (p.Thr504Ile) single nucleotide variant Acrodysostosis [RCV000331981]|Carney complex [RCV000370244]|not provided [RCV000887096]|not specified [RCV003151051] Chr17:68537592 [GRCh38]
Chr17:66533733 [GRCh37]
Chr17:17q24.2
benign|likely benign
NM_017565.4(FAM20A):c.871_891del (p.Glu291_Lys297del) deletion not provided [RCV000722806] Chr17:68542731..68542751 [GRCh38]
Chr17:66538872..66538892 [GRCh37]
Chr17:17q24.2
uncertain significance
GRCh37/hg19 17q24.2-24.3(chr17:65343022-69344022)x3 copy number gain See cases [RCV000446484] Chr17:65343022..69344022 [GRCh37]
Chr17:17q24.2-24.3
uncertain significance
GRCh37/hg19 17q24.2-25.3(chr17:64241326-81041938)x3 copy number gain See cases [RCV000447577] Chr17:64241326..81041938 [GRCh37]
Chr17:17q24.2-25.3
pathogenic
NM_017565.4(FAM20A):c.394C>G (p.Arg132Gly) single nucleotide variant not provided [RCV000425799] Chr17:68600273 [GRCh38]
Chr17:66596414 [GRCh37]
Chr17:17q24.2
uncertain significance
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_017565.4(FAM20A):c.885del (p.Thr296fs) deletion Amelogenesis imperfecta type 1G [RCV000714712] Chr17:68542737 [GRCh38]
Chr17:66538878 [GRCh37]
Chr17:17q24.2
likely pathogenic
GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3 copy number gain not provided [RCV000683952] Chr17:63689671..81041938 [GRCh37]
Chr17:17q24.1-25.3
pathogenic
NM_017565.4(FAM20A):c.589+248G>A single nucleotide variant not provided [RCV001545561] Chr17:68555311 [GRCh38]
Chr17:66551452 [GRCh37]
Chr17:17q24.2
likely benign
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_017565.4(FAM20A):c.812+49C>T single nucleotide variant not provided [RCV001609512] Chr17:68543580 [GRCh38]
Chr17:66539721 [GRCh37]
Chr17:17q24.2
benign
NM_017565.4(FAM20A):c.1231C>A (p.Arg411=) single nucleotide variant not provided [RCV000962618] Chr17:68539955 [GRCh38]
Chr17:66536096 [GRCh37]
Chr17:17q24.2
benign
NM_017565.4(FAM20A):c.641-302dup duplication not provided [RCV001645332] Chr17:68552242..68552243 [GRCh38]
Chr17:66548383..66548384 [GRCh37]
Chr17:17q24.2
benign
NM_017565.4(FAM20A):c.405-259A>G single nucleotide variant not provided [RCV001612000] Chr17:68556002 [GRCh38]
Chr17:66552143 [GRCh37]
Chr17:17q24.2
benign
GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3 copy number gain not provided [RCV000762750] Chr17:64159738..74891024 [GRCh37]
Chr17:17q24.1-25.2
likely pathogenic
NM_017565.4(FAM20A):c.111_145del (p.Glu39fs) deletion Amelogenesis imperfecta type 1G [RCV001640790] Chr17:68600522..68600556 [GRCh38]
Chr17:66596663..66596697 [GRCh37]
Chr17:17q24.2
pathogenic
NM_017565.4(FAM20A):c.1110-52G>A single nucleotide variant not provided [RCV001611248] Chr17:68541010 [GRCh38]
Chr17:66537151 [GRCh37]
Chr17:17q24.2
benign
NM_017565.4(FAM20A):c.321G>C (p.Pro107=) single nucleotide variant Amelogenesis imperfecta type 1G [RCV002488055]|not provided [RCV000967461] Chr17:68600346 [GRCh38]
Chr17:66596487 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.261G>A (p.Gly87=) single nucleotide variant not provided [RCV000925288] Chr17:68600406 [GRCh38]
Chr17:66596547 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.792C>T (p.Ile264=) single nucleotide variant Amelogenesis imperfecta type 1G [RCV002505324]|not provided [RCV000906712] Chr17:68543649 [GRCh38]
Chr17:66539790 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.404+3G>A single nucleotide variant not provided [RCV000908004] Chr17:68600260 [GRCh38]
Chr17:66596401 [GRCh37]
Chr17:17q24.2
benign
NM_017565.4(FAM20A):c.18G>A (p.Arg6=) single nucleotide variant Amelogenesis imperfecta type 1G [RCV002503007]|not provided [RCV000961518] Chr17:68600649 [GRCh38]
Chr17:66596790 [GRCh37]
Chr17:17q24.2
benign|likely benign
NM_017565.4(FAM20A):c.1109+10T>G single nucleotide variant not provided [RCV000931249] Chr17:68541975 [GRCh38]
Chr17:66538116 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.8G>T (p.Gly3Val) single nucleotide variant not provided [RCV000892304] Chr17:68600659 [GRCh38]
Chr17:66596800 [GRCh37]
Chr17:17q24.2
benign
NM_017565.4(FAM20A):c.561C>T (p.Asp187=) single nucleotide variant not provided [RCV000896360] Chr17:68555587 [GRCh38]
Chr17:66551728 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.513T>C (p.His171=) single nucleotide variant Amelogenesis imperfecta type 1G [RCV002495476]|not provided [RCV000905179] Chr17:68555635 [GRCh38]
Chr17:66551776 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.158T>A (p.Leu53Gln) single nucleotide variant not provided [RCV000893865] Chr17:68600509 [GRCh38]
Chr17:66596650 [GRCh37]
Chr17:17q24.2
benign
GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3 copy number gain not provided [RCV000849900] Chr17:62778720..81041938 [GRCh37]
Chr17:17q24.1-25.3
pathogenic
GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3 copy number gain not provided [RCV000845965] Chr17:57869604..67078443 [GRCh37]
Chr17:17q23.1-24.2
pathogenic
NM_017565.4(FAM20A):c.98G>T (p.Arg33Leu) single nucleotide variant not provided [RCV001211310] Chr17:68600569 [GRCh38]
Chr17:66596710 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.509G>T (p.Arg170Leu) single nucleotide variant Inborn genetic diseases [RCV002562397]|not provided [RCV001213859] Chr17:68555639 [GRCh38]
Chr17:66551780 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.1175G>A (p.Arg392Gln) single nucleotide variant Amelogenesis imperfecta type 1G [RCV002504275]|Inborn genetic diseases [RCV002563007]|not provided [RCV001220439] Chr17:68540893 [GRCh38]
Chr17:66537034 [GRCh37]
Chr17:17q24.2
conflicting interpretations of pathogenicity|uncertain significance
NM_017565.4(FAM20A):c.440C>T (p.Thr147Ile) single nucleotide variant Amelogenesis imperfecta type 1G [RCV002480718]|Inborn genetic diseases [RCV002562447]|not provided [RCV001218227] Chr17:68555708 [GRCh38]
Chr17:66551849 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.974C>T (p.Thr325Met) single nucleotide variant not provided [RCV003105032] Chr17:68542120 [GRCh38]
Chr17:66538261 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.1110-196C>T single nucleotide variant not provided [RCV001647964] Chr17:68541154 [GRCh38]
Chr17:66537295 [GRCh37]
Chr17:17q24.2
benign
NM_017565.4(FAM20A):c.813-62A>G single nucleotide variant not provided [RCV001668915] Chr17:68542871 [GRCh38]
Chr17:66539012 [GRCh37]
Chr17:17q24.2
benign
NM_017565.4(FAM20A):c.1219+241G>A single nucleotide variant not provided [RCV001687366] Chr17:68540608 [GRCh38]
Chr17:66536749 [GRCh37]
Chr17:17q24.2
benign
NM_017565.4(FAM20A):c.812+4G>C single nucleotide variant not provided [RCV001998460] Chr17:68543625 [GRCh38]
Chr17:66539766 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.1220-187C>A single nucleotide variant not provided [RCV001714824] Chr17:68540153 [GRCh38]
Chr17:66536294 [GRCh37]
Chr17:17q24.2
benign
NM_017565.4(FAM20A):c.1302-209G>A single nucleotide variant not provided [RCV001644004] Chr17:68539605 [GRCh38]
Chr17:66535746 [GRCh37]
Chr17:17q24.2
benign
NM_017565.4(FAM20A):c.590-42A>G single nucleotide variant not provided [RCV001620948] Chr17:68554869 [GRCh38]
Chr17:66551010 [GRCh37]
Chr17:17q24.2
benign
NM_017565.4(FAM20A):c.1479C>A (p.Pro493=) single nucleotide variant not provided [RCV000918272] Chr17:68537624 [GRCh38]
Chr17:66533765 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.1240T>C (p.Tyr414His) single nucleotide variant not provided [RCV000885896] Chr17:68539946 [GRCh38]
Chr17:66536087 [GRCh37]
Chr17:17q24.2
benign
NM_017565.4(FAM20A):c.444C>T (p.Ser148=) single nucleotide variant Amelogenesis imperfecta type 1G [RCV002479015]|not provided [RCV000889116] Chr17:68555704 [GRCh38]
Chr17:66551845 [GRCh37]
Chr17:17q24.2
benign
NM_017565.4(FAM20A):c.507C>T (p.Asn169=) single nucleotide variant not provided [RCV000909897] Chr17:68555641 [GRCh38]
Chr17:66551782 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.1206C>T (p.Phe402=) single nucleotide variant not provided [RCV000888025] Chr17:68540862 [GRCh38]
Chr17:66537003 [GRCh37]
Chr17:17q24.2
benign
NM_017565.4(FAM20A):c.69C>T (p.Leu23=) single nucleotide variant not provided [RCV000925515] Chr17:68600598 [GRCh38]
Chr17:66596739 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.471C>T (p.Leu157=) single nucleotide variant not provided [RCV000974137] Chr17:68555677 [GRCh38]
Chr17:66551818 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.1432C>A (p.Arg478=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256594]|not provided [RCV000910918] Chr17:68537671 [GRCh38]
Chr17:66533812 [GRCh37]
Chr17:17q24.2
benign|likely benign
NM_017565.4(FAM20A):c.526C>G (p.Arg176Gly) single nucleotide variant Inborn genetic diseases [RCV002563665]|not provided [RCV001225074] Chr17:68555622 [GRCh38]
Chr17:66551763 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.1314C>T (p.His438=) single nucleotide variant Amelogenesis imperfecta type 1G [RCV002502753]|not provided [RCV000913493] Chr17:68539384 [GRCh38]
Chr17:66535525 [GRCh37]
Chr17:17q24.2
benign|likely benign
NM_017565.4(FAM20A):c.719+149_719+156del deletion not provided [RCV001540913] Chr17:68551717..68551724 [GRCh38]
Chr17:66547858..66547865 [GRCh37]
Chr17:17q24.2
benign
NM_017565.4(FAM20A):c.*210G>A single nucleotide variant not provided [RCV001656834] Chr17:68537267 [GRCh38]
Chr17:66533408 [GRCh37]
Chr17:17q24.2
benign
NM_017565.4(FAM20A):c.1109+3_1109+7delinsTGGTC indel Amelogenesis imperfecta type 1G [RCV002254495] Chr17:68541978..68541982 [GRCh38]
Chr17:66538119..66538123 [GRCh37]
Chr17:17q24.2
pathogenic
NM_017565.4(FAM20A):c.1231C>T (p.Arg411Trp) single nucleotide variant Amelogenesis imperfecta type 1G [RCV002254496] Chr17:68539955 [GRCh38]
Chr17:66536096 [GRCh37]
Chr17:17q24.2
likely pathogenic
NM_017565.4(FAM20A):c.929-112C>T single nucleotide variant not provided [RCV001635585] Chr17:68542277 [GRCh38]
Chr17:66538418 [GRCh37]
Chr17:17q24.2
benign
NM_017565.4(FAM20A):c.640+11T>C single nucleotide variant Amelogenesis imperfecta type 1G [RCV002488442]|not provided [RCV001637689] Chr17:68554766 [GRCh38]
Chr17:66550907 [GRCh37]
Chr17:17q24.2
benign|likely benign
NM_017565.4(FAM20A):c.719+149AAT[11] microsatellite not provided [RCV001689296] Chr17:68551689..68551691 [GRCh38]
Chr17:66547830..66547832 [GRCh37]
Chr17:17q24.2
benign
NM_017565.4(FAM20A):c.405-144A>C single nucleotide variant not provided [RCV001657185] Chr17:68555887 [GRCh38]
Chr17:66552028 [GRCh37]
Chr17:17q24.2
benign
NM_017565.4(FAM20A):c.1220-107_1220-106del deletion not provided [RCV001635753] Chr17:68540072..68540073 [GRCh38]
Chr17:66536213..66536214 [GRCh37]
Chr17:17q24.2
benign
NM_017565.4(FAM20A):c.1220-112C>G single nucleotide variant not provided [RCV001652633] Chr17:68540078 [GRCh38]
Chr17:66536219 [GRCh37]
Chr17:17q24.2
benign
NM_017565.4(FAM20A):c.719+149AAT[14] microsatellite not provided [RCV001695259] Chr17:68551688..68551689 [GRCh38]
Chr17:66547829..66547830 [GRCh37]
Chr17:17q24.2
benign
NM_017565.4(FAM20A):c.640+31C>T single nucleotide variant not provided [RCV001615464] Chr17:68554746 [GRCh38]
Chr17:66550887 [GRCh37]
Chr17:17q24.2
benign
NM_017565.4(FAM20A):c.1362-97G>C single nucleotide variant not provided [RCV001647993] Chr17:68537838 [GRCh38]
Chr17:66533979 [GRCh37]
Chr17:17q24.2
benign
NM_017565.4(FAM20A):c.1110-275C>A single nucleotide variant not provided [RCV001616267] Chr17:68541233 [GRCh38]
Chr17:66537374 [GRCh37]
Chr17:17q24.2
benign
NM_017565.4(FAM20A):c.1362-263T>C single nucleotide variant not provided [RCV001709865] Chr17:68538004 [GRCh38]
Chr17:66534145 [GRCh37]
Chr17:17q24.2
benign
NM_017565.4(FAM20A):c.719+148_719+149insATGATAATA microsatellite not provided [RCV001670958] Chr17:68551724..68551725 [GRCh38]
Chr17:66547865..66547866 [GRCh37]
Chr17:17q24.2
benign
NM_017565.4(FAM20A):c.5C>T (p.Pro2Leu) single nucleotide variant Amelogenesis imperfecta type 1G [RCV002480757]|not provided [RCV001231437] Chr17:68600662 [GRCh38]
Chr17:66596803 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.1378C>T (p.Leu460Phe) single nucleotide variant not provided [RCV001235824] Chr17:68537725 [GRCh38]
Chr17:66533866 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.1219+3_1219+6del microsatellite Amelogenesis imperfecta type 1G [RCV001093647] Chr17:68540843..68540846 [GRCh38]
Chr17:66536984..66536987 [GRCh37]
Chr17:17q24.2
likely pathogenic
GRCh37/hg19 17q24.2-24.3(chr17:66531148-67241132)x3 copy number gain not provided [RCV001259903] Chr17:66531148..67241132 [GRCh37]
Chr17:17q24.2-24.3
uncertain significance
NM_017565.4(FAM20A):c.915_918del (p.Phe305fs) deletion Amelogenesis imperfecta type 1G [RCV001535979]|not provided [RCV002546414] Chr17:68542704..68542707 [GRCh38]
Chr17:66538845..66538848 [GRCh37]
Chr17:17q24.2
pathogenic
NM_017565.4(FAM20A):c.719+148_719+149insATGATAATAATA microsatellite not provided [RCV001539696] Chr17:68551724..68551725 [GRCh38]
Chr17:66547865..66547866 [GRCh37]
Chr17:17q24.2
benign
NM_017565.4(FAM20A):c.1569C>T (p.Val523=) single nucleotide variant not provided [RCV001392384] Chr17:68537534 [GRCh38]
Chr17:66533675 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.13C>A (p.Arg5Ser) single nucleotide variant Amelogenesis imperfecta type 1G [RCV002480946]|Inborn genetic diseases [RCV002541831]|not provided [RCV001295624] Chr17:68600654 [GRCh38]
Chr17:66596795 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.804T>C (p.His268=) single nucleotide variant not provided [RCV001433697] Chr17:68543637 [GRCh38]
Chr17:66539778 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.1094T>C (p.Leu365Pro) single nucleotide variant Amelogenesis imperfecta type 1G [RCV002486410]|not provided [RCV001346403] Chr17:68542000 [GRCh38]
Chr17:66538141 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.1174C>T (p.Arg392Trp) single nucleotide variant Inborn genetic diseases [RCV003246954]|not provided [RCV001367277] Chr17:68540894 [GRCh38]
Chr17:66537035 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.43C>T (p.Leu15=) single nucleotide variant Amelogenesis imperfecta type 1G [RCV002506545]|not provided [RCV001472111] Chr17:68600624 [GRCh38]
Chr17:66596765 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.404+2T>G single nucleotide variant not provided [RCV001377204] Chr17:68600261 [GRCh38]
Chr17:66596402 [GRCh37]
Chr17:17q24.2
likely pathogenic
NM_017565.4(FAM20A):c.1371del (p.Thr459fs) deletion not provided [RCV001387245] Chr17:68537732 [GRCh38]
Chr17:66533873 [GRCh37]
Chr17:17q24.2
pathogenic
NM_017565.4(FAM20A):c.45G>T (p.Leu15=) single nucleotide variant not provided [RCV001400394] Chr17:68600622 [GRCh38]
Chr17:66596763 [GRCh37]
Chr17:17q24.2
likely benign
NC_000017.10:g.(?_66508520)_(66533875_?)del deletion Carney complex, type 1 [RCV001390224] Chr17:66508520..66533875 [GRCh37]
Chr17:17q24.2
pathogenic
NM_017565.4(FAM20A):c.719+149AAT[15] microsatellite not provided [RCV001714819] Chr17:68551688..68551689 [GRCh38]
Chr17:66547829..66547830 [GRCh37]
Chr17:17q24.2
benign
NM_017565.4(FAM20A):c.1293C>T (p.Asn431=) single nucleotide variant not provided [RCV001486641] Chr17:68539893 [GRCh38]
Chr17:66536034 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.719+149AAT[13] microsatellite not provided [RCV001707492] Chr17:68551688..68551689 [GRCh38]
Chr17:66547829..66547830 [GRCh37]
Chr17:17q24.2
benign
NM_017565.4(FAM20A):c.864C>T (p.Val288=) single nucleotide variant not provided [RCV001452216] Chr17:68542758 [GRCh38]
Chr17:66538899 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.1110-205C>T single nucleotide variant not provided [RCV001713740] Chr17:68541163 [GRCh38]
Chr17:66537304 [GRCh37]
Chr17:17q24.2
benign
NM_017565.4(FAM20A):c.1219+15G>A single nucleotide variant not provided [RCV001442938] Chr17:68540834 [GRCh38]
Chr17:66536975 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.735G>A (p.Glu245=) single nucleotide variant not provided [RCV001514726] Chr17:68543706 [GRCh38]
Chr17:66539847 [GRCh37]
Chr17:17q24.2
benign
NM_017565.4(FAM20A):c.1600T>C (p.Ser534Pro) single nucleotide variant Inborn genetic diseases [RCV003262747] Chr17:68537503 [GRCh38]
Chr17:66533644 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.719+751A>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257279] Chr17:68551122 [GRCh38]
Chr17:66547263 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.1294G>T (p.Ala432Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257280]|Inborn genetic diseases [RCV003269148] Chr17:68539892 [GRCh38]
Chr17:66536033 [GRCh37]
Chr17:17q24.2
benign|uncertain significance
NM_001276290.1(PRKAR1A):c.973+4267_974-9286del deletion Amelogenesis imperfecta type 1G [RCV002255776] Chr17:68534265..68541795 [GRCh38]
Chr17:66530406..66537936 [GRCh37]
Chr17:17q24.2
pathogenic
NM_017565.4(FAM20A):c.349_367del (p.Leu117fs) deletion Amelogenesis imperfecta type 1G [RCV001783238] Chr17:68600300..68600318 [GRCh38]
Chr17:66596441..66596459 [GRCh37]
Chr17:17q24.2
pathogenic
NM_017565.4(FAM20A):c.455dup (p.Leu153fs) duplication Amelogenesis imperfecta type 1G [RCV001783239] Chr17:68555692..68555693 [GRCh38]
Chr17:66551833..66551834 [GRCh37]
Chr17:17q24.2
pathogenic
NM_017565.4(FAM20A):c.222C>A (p.Thr74=) single nucleotide variant not provided [RCV001915020] Chr17:68600445 [GRCh38]
Chr17:66596586 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.721C>T (p.Gln241Ter) single nucleotide variant not provided [RCV001864435] Chr17:68543720 [GRCh38]
Chr17:66539861 [GRCh37]
Chr17:17q24.2
pathogenic
NM_017565.4(FAM20A):c.527G>A (p.Arg176Gln) single nucleotide variant Amelogenesis imperfecta type 1G [RCV002484440]|not provided [RCV001909901] Chr17:68555621 [GRCh38]
Chr17:66551762 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.50C>T (p.Ala17Val) single nucleotide variant not provided [RCV001997376] Chr17:68600617 [GRCh38]
Chr17:66596758 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.1012G>A (p.Gly338Ser) single nucleotide variant not provided [RCV001907808] Chr17:68542082 [GRCh38]
Chr17:66538223 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.1169G>A (p.Ser390Asn) single nucleotide variant Amelogenesis imperfecta type 1G [RCV002492197]|not provided [RCV001970798] Chr17:68540899 [GRCh38]
Chr17:66537040 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.807G>A (p.Leu269=) single nucleotide variant not provided [RCV001883874] Chr17:68543634 [GRCh38]
Chr17:66539775 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.467G>A (p.Arg156Gln) single nucleotide variant Amelogenesis imperfecta type 1G [RCV002491923]|Inborn genetic diseases [RCV002561316]|not provided [RCV001923836] Chr17:68555681 [GRCh38]
Chr17:66551822 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.757T>C (p.Tyr253His) single nucleotide variant Amelogenesis imperfecta type 1G [RCV002490072]|not provided [RCV001900308] Chr17:68543684 [GRCh38]
Chr17:66539825 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.562A>G (p.Met188Val) single nucleotide variant Inborn genetic diseases [RCV002573437]|not provided [RCV001977739] Chr17:68555586 [GRCh38]
Chr17:66551727 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.1055G>A (p.Arg352Lys) single nucleotide variant not provided [RCV001979949] Chr17:68542039 [GRCh38]
Chr17:66538180 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.680G>A (p.Arg227Lys) single nucleotide variant not provided [RCV002050989] Chr17:68551912 [GRCh38]
Chr17:66548053 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.929C>T (p.Ala310Val) single nucleotide variant not provided [RCV001891089] Chr17:68542165 [GRCh38]
Chr17:66538306 [GRCh37]
Chr17:17q24.2
uncertain significance
NC_000017.10:g.(?_66303635)_(66596807_?)dup duplication not provided [RCV001918933] Chr17:66303635..66596807 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.764T>C (p.Ile255Thr) single nucleotide variant not provided [RCV002085526] Chr17:68543677 [GRCh38]
Chr17:66539818 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.1301+7T>A single nucleotide variant not provided [RCV002206298] Chr17:68539878 [GRCh38]
Chr17:66536019 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.1166A>G (p.Asn389Ser) single nucleotide variant not provided [RCV002099794] Chr17:68540902 [GRCh38]
Chr17:66537043 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.928+16G>A single nucleotide variant Amelogenesis imperfecta type 1G [RCV002499917]|not provided [RCV002102653] Chr17:68542678 [GRCh38]
Chr17:66538819 [GRCh37]
Chr17:17q24.2
benign|likely benign
NM_017565.4(FAM20A):c.1472C>T (p.Thr491Ile) single nucleotide variant Amelogenesis imperfecta type 1G [RCV002500003]|not provided [RCV002117742] Chr17:68537631 [GRCh38]
Chr17:66533772 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.1158G>A (p.Pro386=) single nucleotide variant not provided [RCV002173015] Chr17:68540910 [GRCh38]
Chr17:66537051 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.342C>T (p.Asp114=) single nucleotide variant Amelogenesis imperfecta type 1G [RCV002486802]|not provided [RCV002106869] Chr17:68600325 [GRCh38]
Chr17:66596466 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.719+774G>C single nucleotide variant not provided [RCV002224382] Chr17:68551099 [GRCh38]
Chr17:66547240 [GRCh37]
Chr17:17q24.2
likely pathogenic
NM_017565.4(FAM20A):c.129G>A (p.Gly43=) single nucleotide variant not provided [RCV002174438] Chr17:68600538 [GRCh38]
Chr17:66596679 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.984T>C (p.Ala328=) single nucleotide variant Amelogenesis imperfecta type 1G [RCV002494066]|not provided [RCV002175109] Chr17:68542110 [GRCh38]
Chr17:66538251 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.404+18G>A single nucleotide variant Amelogenesis imperfecta type 1G [RCV002500333]|not provided [RCV002151841] Chr17:68600245 [GRCh38]
Chr17:66596386 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.357C>T (p.Ser119=) single nucleotide variant not provided [RCV002125284] Chr17:68600310 [GRCh38]
Chr17:66596451 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.719+776G>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257281] Chr17:68551097 [GRCh38]
Chr17:66547238 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.758A>G (p.Tyr253Cys) single nucleotide variant Amelogenesis imperfecta type 1G [RCV002255775] Chr17:68543683 [GRCh38]
Chr17:66539824 [GRCh37]
Chr17:17q24.2
likely pathogenic
NM_017565.4(FAM20A):c.193G>A (p.Gly65Ser) single nucleotide variant not provided [RCV002273535] Chr17:68600474 [GRCh38]
Chr17:66596615 [GRCh37]
Chr17:17q24.2
conflicting interpretations of pathogenicity|uncertain significance
NM_017565.4(FAM20A):c.929-11_929-3del deletion not provided [RCV002280047] Chr17:68542168..68542176 [GRCh38]
Chr17:66538309..66538317 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.1447del (p.Glu483fs) deletion not provided [RCV002267276] Chr17:68537656 [GRCh38]
Chr17:66533797 [GRCh37]
Chr17:17q24.2
pathogenic
NM_017565.4(FAM20A):c.134C>A (p.Pro45Gln) single nucleotide variant not provided [RCV002469713] Chr17:68600533 [GRCh38]
Chr17:66596674 [GRCh37]
Chr17:17q24.2
conflicting interpretations of pathogenicity|uncertain significance
NM_017565.4(FAM20A):c.1109+11C>G single nucleotide variant not provided [RCV002776262] Chr17:68541974 [GRCh38]
Chr17:66538115 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.1502G>A (p.Arg501Lys) single nucleotide variant not provided [RCV003014533] Chr17:68537601 [GRCh38]
Chr17:66533742 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.640+20C>G single nucleotide variant not provided [RCV002776445] Chr17:68554757 [GRCh38]
Chr17:66550898 [GRCh37]
Chr17:17q24.2
benign
NM_017565.4(FAM20A):c.885C>A (p.Val295=) single nucleotide variant not provided [RCV002726403] Chr17:68542737 [GRCh38]
Chr17:66538878 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.1071C>T (p.Asn357=) single nucleotide variant not provided [RCV002904729] Chr17:68542023 [GRCh38]
Chr17:66538164 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.181G>A (p.Ala61Thr) single nucleotide variant Inborn genetic diseases [RCV002860208] Chr17:68600486 [GRCh38]
Chr17:66596627 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.1301+15G>A single nucleotide variant not provided [RCV002755846] Chr17:68539870 [GRCh38]
Chr17:66536011 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.785C>A (p.Ala262Asp) single nucleotide variant not provided [RCV002839068] Chr17:68543656 [GRCh38]
Chr17:66539797 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.1381T>C (p.Leu461=) single nucleotide variant not provided [RCV002996479] Chr17:68537722 [GRCh38]
Chr17:66533863 [GRCh37]
Chr17:17q24.2
benign
NM_017565.4(FAM20A):c.248G>A (p.Gly83Asp) single nucleotide variant Inborn genetic diseases [RCV002606508]|not provided [RCV002623228] Chr17:68600419 [GRCh38]
Chr17:66596560 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.329T>A (p.Leu110Gln) single nucleotide variant Inborn genetic diseases [RCV002913380]|not provided [RCV002913381] Chr17:68600338 [GRCh38]
Chr17:66596479 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.1161C>T (p.Tyr387=) single nucleotide variant not provided [RCV002593380] Chr17:68540907 [GRCh38]
Chr17:66537048 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.625T>C (p.Cys209Arg) single nucleotide variant Inborn genetic diseases [RCV002736967] Chr17:68554792 [GRCh38]
Chr17:66550933 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.324T>G (p.Pro108=) single nucleotide variant not provided [RCV002658654] Chr17:68600343 [GRCh38]
Chr17:66596484 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.134C>G (p.Pro45Arg) single nucleotide variant Inborn genetic diseases [RCV002799789] Chr17:68600533 [GRCh38]
Chr17:66596674 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.1357T>C (p.Cys453Arg) single nucleotide variant Inborn genetic diseases [RCV002912223] Chr17:68539341 [GRCh38]
Chr17:66535482 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.365C>T (p.Ala122Val) single nucleotide variant Inborn genetic diseases [RCV002822921] Chr17:68600302 [GRCh38]
Chr17:66596443 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.1220-7_1220-5del deletion not provided [RCV002914837] Chr17:68539971..68539973 [GRCh38]
Chr17:66536112..66536114 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.332_352dup (p.Leu117_Ala118insGlyAlaGluAspSerLeuLeu) duplication not provided [RCV002596869] Chr17:68600314..68600315 [GRCh38]
Chr17:66596455..66596456 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.625T>A (p.Cys209Ser) single nucleotide variant Inborn genetic diseases [RCV002712370] Chr17:68554792 [GRCh38]
Chr17:66550933 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.321G>T (p.Pro107=) single nucleotide variant not provided [RCV002643985] Chr17:68600346 [GRCh38]
Chr17:66596487 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.1004T>G (p.Leu335Arg) single nucleotide variant Inborn genetic diseases [RCV002699150] Chr17:68542090 [GRCh38]
Chr17:66538231 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.1361+7T>C single nucleotide variant not provided [RCV002594964] Chr17:68539330 [GRCh38]
Chr17:66535471 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.279G>A (p.Gln93=) single nucleotide variant not provided [RCV003007698] Chr17:68600388 [GRCh38]
Chr17:66596529 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.1232G>A (p.Arg411Gln) single nucleotide variant not provided [RCV002574456] Chr17:68539954 [GRCh38]
Chr17:66536095 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.1286T>C (p.Leu429Pro) single nucleotide variant not provided [RCV003005398] Chr17:68539900 [GRCh38]
Chr17:66536041 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.953A>G (p.Lys318Arg) single nucleotide variant not provided [RCV002593898] Chr17:68542141 [GRCh38]
Chr17:66538282 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.975G>A (p.Thr325=) single nucleotide variant not provided [RCV002982439] Chr17:68542119 [GRCh38]
Chr17:66538260 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.231G>T (p.Arg77=) single nucleotide variant not provided [RCV002701228] Chr17:68600436 [GRCh38]
Chr17:66596577 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.929-12C>T single nucleotide variant not provided [RCV002576015] Chr17:68542177 [GRCh38]
Chr17:66538318 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.1038C>T (p.Ser346=) single nucleotide variant not provided [RCV002958115] Chr17:68542056 [GRCh38]
Chr17:66538197 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.340G>A (p.Asp114Asn) single nucleotide variant Inborn genetic diseases [RCV002697355] Chr17:68600327 [GRCh38]
Chr17:66596468 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.1398G>T (p.Leu466=) single nucleotide variant not provided [RCV002932660] Chr17:68537705 [GRCh38]
Chr17:66533846 [GRCh37]
Chr17:17q24.2
benign
NM_017565.4(FAM20A):c.435C>G (p.Asn145Lys) single nucleotide variant not provided [RCV003057440] Chr17:68555713 [GRCh38]
Chr17:66551854 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.1301+14C>T single nucleotide variant not provided [RCV002581481] Chr17:68539871 [GRCh38]
Chr17:66536012 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.1589_1590inv (p.Leu530Ser) inversion not provided [RCV002675591] Chr17:68537513..68537514 [GRCh38]
Chr17:66533654..66533655 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.127G>C (p.Gly43Arg) single nucleotide variant not provided [RCV003047757] Chr17:68600540 [GRCh38]
Chr17:66596681 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.6G>A (p.Pro2=) single nucleotide variant not provided [RCV003064118] Chr17:68600661 [GRCh38]
Chr17:66596802 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.992G>A (p.Gly331Asp) single nucleotide variant not provided [RCV003064486] Chr17:68542102 [GRCh38]
Chr17:66538243 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.1565T>C (p.Ile522Thr) single nucleotide variant not provided [RCV002578901] Chr17:68537538 [GRCh38]
Chr17:66533679 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.1220-10T>C single nucleotide variant not provided [RCV003046911] Chr17:68539976 [GRCh38]
Chr17:66536117 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.1431G>C (p.Met477Ile) single nucleotide variant not provided [RCV002963249] Chr17:68537672 [GRCh38]
Chr17:66533813 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.1108_1109+1del microsatellite not provided [RCV002598313] Chr17:68541984..68541986 [GRCh38]
Chr17:66538125..66538127 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.162G>A (p.Ala54=) single nucleotide variant not provided [RCV002933730] Chr17:68600505 [GRCh38]
Chr17:66596646 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.681G>A (p.Arg227=) single nucleotide variant not provided [RCV003045311] Chr17:68551911 [GRCh38]
Chr17:66548052 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.1545C>T (p.Ala515=) single nucleotide variant not provided [RCV002597648] Chr17:68537558 [GRCh38]
Chr17:66533699 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.742C>T (p.Pro248Ser) single nucleotide variant not provided [RCV002895577] Chr17:68543699 [GRCh38]
Chr17:66539840 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.526C>T (p.Arg176Trp) single nucleotide variant Inborn genetic diseases [RCV002603525]|not provided [RCV002603526] Chr17:68555622 [GRCh38]
Chr17:66551763 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.613T>A (p.Leu205Met) single nucleotide variant not provided [RCV002721942] Chr17:68554804 [GRCh38]
Chr17:66550945 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.1610C>T (p.Ala537Val) single nucleotide variant not provided [RCV002603087] Chr17:68537493 [GRCh38]
Chr17:66533634 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.1306G>A (p.Gly436Arg) single nucleotide variant not provided [RCV002608186] Chr17:68539392 [GRCh38]
Chr17:66535533 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.1035G>A (p.Pro345=) single nucleotide variant not provided [RCV003068932] Chr17:68542059 [GRCh38]
Chr17:66538200 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.592T>C (p.Tyr198His) single nucleotide variant Inborn genetic diseases [RCV003257136] Chr17:68554825 [GRCh38]
Chr17:66550966 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.1261G>A (p.Gly421Arg) single nucleotide variant Inborn genetic diseases [RCV003212212] Chr17:68539925 [GRCh38]
Chr17:66536066 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.1423G>A (p.Asp475Asn) single nucleotide variant Inborn genetic diseases [RCV003205987] Chr17:68537680 [GRCh38]
Chr17:66533821 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.1615T>G (p.Leu539Val) single nucleotide variant Inborn genetic diseases [RCV003215387] Chr17:68537488 [GRCh38]
Chr17:66533629 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.509G>A (p.Arg170His) single nucleotide variant FAM20A-related condition [RCV003420987] Chr17:68555639 [GRCh38]
Chr17:66551780 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.394C>T (p.Arg132Cys) single nucleotide variant Inborn genetic diseases [RCV003347448] Chr17:68600273 [GRCh38]
Chr17:66596414 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.1173G>A (p.Gln391=) single nucleotide variant not provided [RCV003428426] Chr17:68540895 [GRCh38]
Chr17:66537036 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.626dup (p.Cys209fs) duplication Amelogenesis imperfecta type 1G [RCV003447882] Chr17:68554790..68554791 [GRCh38]
Chr17:66550931..66550932 [GRCh37]
Chr17:17q24.2
likely pathogenic
NM_017565.4(FAM20A):c.1109+6T>G single nucleotide variant FAM20A-related condition [RCV003392898] Chr17:68541979 [GRCh38]
Chr17:66538120 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.976_978del (p.Glu326del) deletion Amelogenesis imperfecta type 1G [RCV003154871] Chr17:68542116..68542118 [GRCh38]
Chr17:66538257..66538259 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.345G>C (p.Ser115=) single nucleotide variant not provided [RCV000909835] Chr17:68600322 [GRCh38]
Chr17:66596463 [GRCh37]
Chr17:17q24.2
benign
NM_017565.4(FAM20A):c.45G>A (p.Leu15=) single nucleotide variant not provided [RCV000888026] Chr17:68600622 [GRCh38]
Chr17:66596763 [GRCh37]
Chr17:17q24.2
likely benign
NM_017565.4(FAM20A):c.1082G>A (p.Arg361His) single nucleotide variant not provided [RCV003112483] Chr17:68542012 [GRCh38]
Chr17:66538153 [GRCh37]
Chr17:17q24.2
uncertain significance
NC_000017.10:g.(?_66508520)_(66548013_?)del deletion Carney complex, type 1 [RCV003122613] Chr17:66508520..66548013 [GRCh37]
Chr17:17q24.2
pathogenic
NM_017565.4(FAM20A):c.610del (p.Ala204fs) deletion Amelogenesis imperfecta type 1G [RCV003154869] Chr17:68554807 [GRCh38]
Chr17:66550948 [GRCh37]
Chr17:17q24.2
likely pathogenic
NM_017565.4(FAM20A):c.53T>A (p.Leu18Gln) single nucleotide variant Amelogenesis imperfecta type 1G [RCV003154870] Chr17:68600614 [GRCh38]
Chr17:66596755 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.1210T>C (p.Phe404Leu) single nucleotide variant Amelogenesis imperfecta type 1G [RCV003147166]|not provided [RCV003321981] Chr17:68540858 [GRCh38]
Chr17:66536999 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.928+2T>C single nucleotide variant Amelogenesis imperfecta type 1G [RCV003155005] Chr17:68542692 [GRCh38]
Chr17:66538833 [GRCh37]
Chr17:17q24.2
likely pathogenic
NM_017565.4(FAM20A):c.1301+5G>A single nucleotide variant Amelogenesis imperfecta type 1G [RCV003155533] Chr17:68539880 [GRCh38]
Chr17:66536021 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017565.4(FAM20A):c.1361+1G>A single nucleotide variant Amelogenesis imperfecta type 1G [RCV003154872] Chr17:68539336 [GRCh38]
Chr17:66535477 [GRCh37]
Chr17:17q24.2
likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1725
Count of miRNA genes:870
Interacting mature miRNAs:998
Transcripts:ENST00000226094, ENST00000375556, ENST00000590074, ENST00000590873, ENST00000592554, ENST00000592847
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D17S2193  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371766,547,762 - 66,547,903UniSTSGRCh37
Build 361764,059,357 - 64,059,498RGDNCBI36
Celera1763,119,547 - 63,119,691RGD
Cytogenetic Map17q24.2UniSTS
HuRef1761,933,496 - 61,933,652UniSTS
Marshfield Genetic Map1789.32UniSTS
Marshfield Genetic Map1789.32RGD
deCODE Assembly Map1799.34UniSTS
G20323  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371766,533,284 - 66,533,521UniSTSGRCh37
Build 361764,044,879 - 64,045,116RGDNCBI36
Celera1763,105,073 - 63,105,310RGD
Cytogenetic Map17q24.2UniSTS
HuRef1761,919,018 - 61,919,255UniSTS
A005M04  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371766,533,284 - 66,533,521UniSTSGRCh37
Build 361764,044,879 - 64,045,116RGDNCBI36
Celera1763,105,073 - 63,105,310RGD
Cytogenetic Map17q24.2UniSTS
HuRef1761,919,018 - 61,919,255UniSTS
GeneMap99-GB4 RH Map17435.2UniSTS
RH46194  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371766,533,052 - 66,533,171UniSTSGRCh37
Build 361764,044,647 - 64,044,766RGDNCBI36
Celera1763,104,841 - 63,104,960RGD
Cytogenetic Map17q24.2UniSTS
HuRef1761,918,786 - 61,918,905UniSTS
GeneMap99-GB4 RH Map17431.1UniSTS
SHGC-56444  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371766,533,190 - 66,533,323UniSTSGRCh37
Build 361764,044,785 - 64,044,918RGDNCBI36
Celera1763,104,979 - 63,105,112RGD
Cytogenetic Map17q24.2UniSTS
HuRef1761,918,924 - 61,919,057UniSTS
TNG Radiation Hybrid Map1730187.0UniSTS
FAM20A__7627  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371766,533,126 - 66,533,843UniSTSGRCh37
Build 361764,044,721 - 64,045,438RGDNCBI36
Celera1763,104,915 - 63,105,632RGD
HuRef1761,918,860 - 61,919,577UniSTS
STS-W90672  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371766,574,609 - 66,574,731UniSTSGRCh37
Build 361764,086,204 - 64,086,326RGDNCBI36
Celera1763,146,385 - 63,146,507RGD
Cytogenetic Map17q24.2UniSTS
HuRef1761,960,291 - 61,960,413UniSTS
GeneMap99-GB4 RH Map17435.2UniSTS


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
Medium 314 345 893 544 336 415 1135 79 592 89 934 1020 127 709 631 1 2
Low 1995 2533 809 73 1034 38 3088 2001 1095 263 444 435 37 1 495 2075 1
Below cutoff 61 107 14 6 404 8 115 80 2003 43 54 109 9 82 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001243746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_017565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_027751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006721959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001752543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001752544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008484843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008484844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008484845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008484846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_429905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_934487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB545606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC079210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF447872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB530015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB057818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  N64017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000226094
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1768,535,113 - 68,558,390 (-)Ensembl
RefSeq Acc Id: ENST00000375556
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1768,537,123 - 68,541,991 (-)Ensembl
RefSeq Acc Id: ENST00000590074   ⟹   ENSP00000464910
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1768,537,617 - 68,600,596 (-)Ensembl
RefSeq Acc Id: ENST00000590873   ⟹   ENSP00000467884
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1768,537,121 - 68,543,669 (-)Ensembl
RefSeq Acc Id: ENST00000592554   ⟹   ENSP00000468308
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1768,535,116 - 68,601,367 (-)Ensembl
RefSeq Acc Id: ENST00000592847
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1768,540,911 - 68,558,375 (-)Ensembl
RefSeq Acc Id: ENST00000619787   ⟹   ENSP00000481085
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1768,535,117 - 68,540,577 (-)Ensembl
RefSeq Acc Id: NM_001243746   ⟹   NP_001230675
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381768,535,116 - 68,601,367 (-)NCBI
GRCh371766,531,257 - 66,597,095 (-)NCBI
HuRef1761,916,991 - 61,982,775 (-)NCBI
CHM1_11766,596,013 - 66,662,169 (-)NCBI
T2T-CHM13v2.01769,411,970 - 69,478,232 (-)NCBI
Sequence:
RefSeq Acc Id: NM_017565   ⟹   NP_060035
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381768,535,116 - 68,601,367 (-)NCBI
GRCh371766,531,257 - 66,597,095 (-)RGD
Build 361764,044,860 - 64,108,690 (-)NCBI Archive
Celera1763,103,046 - 63,168,874 (-)RGD
HuRef1761,916,991 - 61,982,775 (-)ENTREZGENE
CHM1_11766,596,013 - 66,662,169 (-)NCBI
T2T-CHM13v2.01769,411,970 - 69,478,232 (-)NCBI
Sequence:
RefSeq Acc Id: NR_027751
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381768,535,116 - 68,558,427 (-)NCBI
GRCh371766,531,257 - 66,597,095 (-)RGD
Celera1763,103,046 - 63,168,874 (-)RGD
HuRef1761,916,991 - 61,982,775 (-)ENTREZGENE
CHM1_11766,596,013 - 66,619,305 (-)NCBI
T2T-CHM13v2.01769,411,970 - 69,435,277 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006721959   ⟹   XP_006722022
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381768,535,116 - 68,558,427 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011524918   ⟹   XP_011523220
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381768,540,890 - 68,601,367 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017024781   ⟹   XP_016880270
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381768,540,890 - 68,601,367 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047436319   ⟹   XP_047292275
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381768,540,849 - 68,601,367 (-)NCBI
RefSeq Acc Id: XM_054316546   ⟹   XP_054172521
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01769,411,970 - 69,435,277 (-)NCBI
RefSeq Acc Id: XM_054316547   ⟹   XP_054172522
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01769,417,744 - 69,478,232 (-)NCBI
RefSeq Acc Id: XM_054316548   ⟹   XP_054172523
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01769,417,703 - 69,478,232 (-)NCBI
RefSeq Acc Id: XM_054316549   ⟹   XP_054172524
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01769,417,744 - 69,478,232 (-)NCBI
RefSeq Acc Id: XR_001752543
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381768,540,868 - 68,601,367 (-)NCBI
Sequence:
RefSeq Acc Id: XR_002958041
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381768,539,336 - 68,601,367 (-)NCBI
Sequence:
RefSeq Acc Id: XR_008484843
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01769,416,190 - 69,478,232 (-)NCBI
RefSeq Acc Id: XR_008484844
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01769,416,827 - 69,478,232 (-)NCBI
RefSeq Acc Id: XR_008484845
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01769,417,722 - 69,478,232 (-)NCBI
RefSeq Acc Id: XR_008484846
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01769,418,919 - 69,478,232 (-)NCBI
RefSeq Acc Id: XR_429905
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381768,542,065 - 68,601,367 (-)NCBI
Sequence:
RefSeq Acc Id: XR_934487
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381768,539,973 - 68,601,367 (-)NCBI
Sequence:
RefSeq Acc Id: NP_060035   ⟸   NM_017565
- Peptide Label: isoform a precursor
- UniProtKB: B2RN49 (UniProtKB/Swiss-Prot),   B2RN47 (UniProtKB/Swiss-Prot),   Q9UF95 (UniProtKB/Swiss-Prot),   Q96MK3 (UniProtKB/Swiss-Prot),   L8B8N7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001230675   ⟸   NM_001243746
- Peptide Label: isoform b
- UniProtKB: B7Z4Y3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006722022   ⟸   XM_006721959
- Peptide Label: isoform X1
- UniProtKB: B7Z4Y3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011523220   ⟸   XM_011524918
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016880270   ⟸   XM_017024781
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000464910   ⟸   ENST00000590074
RefSeq Acc Id: ENSP00000481085   ⟸   ENST00000619787
RefSeq Acc Id: ENSP00000467884   ⟸   ENST00000590873
RefSeq Acc Id: ENSP00000468308   ⟸   ENST00000592554
RefSeq Acc Id: XP_047292275   ⟸   XM_047436319
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054172521   ⟸   XM_054316546
- Peptide Label: isoform X1
- UniProtKB: B7Z4Y3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054172523   ⟸   XM_054316548
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054172522   ⟸   XM_054316547
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054172524   ⟸   XM_054316549
- Peptide Label: isoform X4
Protein Domains
FAM20 C-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96MK3-F1-model_v2 AlphaFold Q96MK3 1-541 view protein structure

Promoters
RGD ID:7236131
Promoter ID:EPDNEW_H23810
Type:initiation region
Name:FAM20A_1
Description:FAM20A, golgi associated secretory pathway pseudokinase
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
GRCh381768,601,367 - 68,601,427EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23015 AgrOrtholog
COSMIC FAM20A COSMIC
Ensembl Genes ENSG00000108950 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000226094 ENTREZGENE
  ENST00000590074.5 UniProtKB/TrEMBL
  ENST00000590873.5 UniProtKB/TrEMBL
  ENST00000592554 ENTREZGENE
  ENST00000592554.2 UniProtKB/Swiss-Prot
  ENST00000619787.4 UniProtKB/TrEMBL
GTEx ENSG00000108950 GTEx
HGNC ID HGNC:23015 ENTREZGENE
Human Proteome Map FAM20A Human Proteome Map
InterPro FAM20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAM20_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:54757 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 54757 ENTREZGENE
OMIM 611062 OMIM
PANTHER PSEUDOKINASE FAM20A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12450 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Fam20C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134888583 PharmGKB
UniProt B2RN47 ENTREZGENE
  B2RN49 ENTREZGENE
  B7Z4Y3 ENTREZGENE, UniProtKB/TrEMBL
  FA20A_HUMAN UniProtKB/Swiss-Prot
  K7EIV7_HUMAN UniProtKB/TrEMBL
  K7EQL5_HUMAN UniProtKB/TrEMBL
  L8B8N7 ENTREZGENE, UniProtKB/TrEMBL
  Q71MG5_HUMAN UniProtKB/TrEMBL
  Q8IYA5_HUMAN UniProtKB/TrEMBL
  Q96MK3 ENTREZGENE
  Q9UF95 ENTREZGENE
UniProt Secondary B2RN47 UniProtKB/Swiss-Prot
  B2RN49 UniProtKB/Swiss-Prot
  Q9UF95 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-29 FAM20A  FAM20A golgi associated secretory pathway pseudokinase  FAM20A  FAM20A, golgi associated secretory pathway pseudokinase  Symbol and/or name change 5135510 APPROVED
2016-08-16 FAM20A  FAM20A, golgi associated secretory pathway pseudokinase  FAM20A  family with sequence similarity 20 member A  Symbol and/or name change 5135510 APPROVED
2015-11-24 FAM20A  family with sequence similarity 20 member A  FAM20A  family with sequence similarity 20, member A  Symbol and/or name change 5135510 APPROVED