FTCD (formimidoyltransferase cyclodeaminase) - Rat Genome Database

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Gene: FTCD (formimidoyltransferase cyclodeaminase) Homo sapiens
Analyze
Symbol: FTCD
Name: formimidoyltransferase cyclodeaminase
RGD ID: 733688
HGNC Page HGNC:3974
Description: Enables glutamate formimidoyltransferase activity and microtubule binding activity. Predicted to be involved in folic acid-containing compound metabolic process. Located in bounding membrane of organelle; cytosol; and plasma membrane. Implicated in glutamate formiminotransferase deficiency.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: formimidoyltransferase-cyclodeaminase; formiminotransferase cyclodeaminase; formiminotransferase-cyclodeaminase; LCHC1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382146,136,262 - 46,155,579 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2146,136,160 - 46,155,579 (-)EnsemblGRCh38hg38GRCh38
GRCh372147,556,176 - 47,575,493 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362146,380,604 - 46,399,909 (-)NCBINCBI36Build 36hg18NCBI36
Build 342146,381,123 - 46,399,909NCBI
Celera2132,668,510 - 32,687,862 (-)NCBICelera
Cytogenetic Map21q22.3NCBI
HuRef2132,937,193 - 32,957,524 (-)NCBIHuRef
CHM1_12147,116,995 - 47,136,320 (-)NCBICHM1_1
T2T-CHM13v2.02144,514,323 - 44,534,996 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-aminobenzotriazole  (ISO)
1-benzylpiperazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4,6-trinitrotoluene  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
Aflatoxin B2 alpha  (EXP)
alpha-Zearalanol  (ISO)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
benzo[a]pyrene  (EXP)
bisphenol A  (EXP,ISO)
buspirone  (ISO)
buta-1,3-diene  (ISO)
butanal  (EXP)
cadmium dichloride  (EXP,ISO)
carbamazepine  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
dibutyl phthalate  (ISO)
diclofenac  (EXP)
diiodine  (ISO)
diquat  (ISO)
disulfiram  (EXP)
endosulfan  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
furan  (ISO)
glafenine  (ISO)
methamphetamine  (ISO)
methapyrilene  (ISO)
methidathion  (ISO)
monosodium L-glutamate  (ISO)
Muraglitazar  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
N-nitrosomorpholine  (ISO)
nefazodone  (ISO)
nimesulide  (ISO)
paracetamol  (EXP,ISO)
perfluorodecanoic acid  (EXP)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
propanal  (EXP)
propiconazole  (ISO)
quercetin  (EXP)
rac-1,2-dichloropropane  (ISO)
resveratrol  (EXP)
rotenone  (EXP)
SCH 23390  (ISO)
sodium arsenite  (EXP,ISO)
sodium perchlorate  (ISO)
tauroursodeoxycholic acid  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:9677386   PMID:10029623   PMID:10773664   PMID:10830953   PMID:11278563   PMID:12477932   PMID:12815595   PMID:14697341   PMID:14759258   PMID:19048631   PMID:19056867   PMID:19161160  
PMID:19204726   PMID:19913121   PMID:20209057   PMID:20494980   PMID:20628086   PMID:20634891   PMID:21873635   PMID:23376485   PMID:24686083   PMID:25416956   PMID:29178637   PMID:29927301  
PMID:30784016   PMID:30893314   PMID:32296183   PMID:33555040   PMID:35914814   PMID:35944360  


Genomics

Comparative Map Data
FTCD
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382146,136,262 - 46,155,579 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2146,136,160 - 46,155,579 (-)EnsemblGRCh38hg38GRCh38
GRCh372147,556,176 - 47,575,493 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362146,380,604 - 46,399,909 (-)NCBINCBI36Build 36hg18NCBI36
Build 342146,381,123 - 46,399,909NCBI
Celera2132,668,510 - 32,687,862 (-)NCBICelera
Cytogenetic Map21q22.3NCBI
HuRef2132,937,193 - 32,957,524 (-)NCBIHuRef
CHM1_12147,116,995 - 47,136,320 (-)NCBICHM1_1
T2T-CHM13v2.02144,514,323 - 44,534,996 (-)NCBIT2T-CHM13v2.0
Ftcd
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391076,411,482 - 76,426,172 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1076,411,482 - 76,426,172 (+)EnsemblGRCm39 Ensembl
GRCm381076,575,648 - 76,590,338 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1076,575,648 - 76,590,338 (+)EnsemblGRCm38mm10GRCm38
MGSCv371076,038,393 - 76,053,083 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361076,019,402 - 76,033,277 (+)NCBIMGSCv36mm8
Celera1077,620,163 - 77,635,459 (+)NCBICelera
Cytogenetic Map10C1NCBI
cM Map1039.25NCBI
Ftcd
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82012,054,710 - 12,068,219 (-)NCBIGRCr8
mRatBN7.22012,055,203 - 12,068,717 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2012,055,208 - 12,068,735 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2012,751,494 - 12,765,024 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02012,112,414 - 12,125,946 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02012,584,199 - 12,597,724 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02012,806,957 - 12,820,466 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2012,806,957 - 12,820,466 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02014,965,126 - 14,978,635 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42012,470,291 - 12,483,807 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12012,470,516 - 12,484,034 (-)NCBI
Celera2013,553,681 - 13,567,051 (-)NCBICelera
Cytogenetic Map20p12NCBI
Ftcd
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540742,607,872 - 42,617,166 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540742,608,249 - 42,617,167 (-)NCBIChiLan1.0ChiLan1.0
FTCD
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22242,237,586 - 42,262,376 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12137,109,542 - 37,134,237 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02132,481,042 - 32,501,932 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12145,734,647 - 45,753,437 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2145,734,825 - 45,753,400 (-)Ensemblpanpan1.1panPan2
FTCD
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13139,451,557 - 39,464,249 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3139,275,159 - 39,464,715 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3138,679,583 - 38,692,067 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03139,092,693 - 39,105,364 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3139,092,651 - 39,105,751 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13138,954,390 - 38,967,042 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03138,914,802 - 38,927,725 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03139,433,241 - 39,445,917 (-)NCBIUU_Cfam_GSD_1.0
Ftcd
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440497138,739,431 - 38,755,168 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936778375,800 - 390,554 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936778375,800 - 390,764 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FTCD
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa10.213218,617,763 - 218,632,226 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103220313
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1289,761,600 - 89,778,572 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl289,761,248 - 89,782,238 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605418,109,972 - 18,159,319 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ftcd
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474531,276,314 - 31,289,063 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474531,279,868 - 31,288,600 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FTCD
293 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_206965.2(FTCD):c.906+8G>A single nucleotide variant Glutamate formiminotransferase deficiency [RCV001438980] Chr21:46150111 [GRCh38]
Chr21:47570025 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.403C>T (p.Arg135Cys) single nucleotide variant Glutamate formiminotransferase deficiency [RCV000004232] Chr21:46151945 [GRCh38]
Chr21:47571859 [GRCh37]
Chr21:21q22.3		 pathogenic|uncertain significance
NM_206965.2(FTCD):c.896G>C (p.Arg299Pro) single nucleotide variant Glutamate formiminotransferase deficiency [RCV000004233] Chr21:46150129 [GRCh38]
Chr21:47570043 [GRCh37]
Chr21:21q22.3		 pathogenic|uncertain significance
NM_206965.2(FTCD):c.990dup (p.Pro331fs) duplication FTCD-related disorder [RCV003390640]|Glutamate formiminotransferase deficiency [RCV000004234]|Inborn genetic diseases [RCV002512745]|not provided [RCV000081452] Chr21:46145925..46145926 [GRCh38]
Chr21:47565839..47565840 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_206965.2(FTCD):c.424C>T (p.Arg142Trp) single nucleotide variant not provided [RCV000728956] Chr21:46151924 [GRCh38]
Chr21:47571838 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh38/hg38 21q22.3(chr21:42232926-46670405)x1 copy number loss See cases [RCV000050746] Chr21:42232926..46670405 [GRCh38]
Chr21:43653036..48090317 [GRCh37]
Chr21:42526105..46914745 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000050445] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1 copy number loss See cases [RCV000051022] Chr21:41285201..46670405 [GRCh38]
Chr21:42657128..48090317 [GRCh37]
Chr21:41578998..46914745 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:35027972-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|See cases [RCV000052836] Chr21:35027972..46670405 [GRCh38]
Chr21:36400269..48090317 [GRCh37]
Chr21:35322139..46914745 [NCBI36]
Chr21:21q22.12-22.3		 pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:38273492-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|See cases [RCV000052838] Chr21:38273492..46670405 [GRCh38]
Chr21:39645414..48090317 [GRCh37]
Chr21:38567284..46914745 [NCBI36]
Chr21:21q22.13-22.3		 pathogenic
GRCh38/hg38 21q22.2-22.3(chr21:40127825-46670546)x1 copy number loss See cases [RCV000052839] Chr21:40127825..46670546 [GRCh38]
Chr21:41499752..48090458 [GRCh37]
Chr21:40421622..46914886 [NCBI36]
Chr21:21q22.2-22.3		 pathogenic
GRCh38/hg38 21q22.3(chr21:45085281-46670546)x1 copy number loss See cases [RCV000052841] Chr21:45085281..46670546 [GRCh38]
Chr21:46505196..48090458 [GRCh37]
Chr21:45329624..46914886 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21q22.3(chr21:45110477-46648012)x1 copy number loss See cases [RCV000052842] Chr21:45110477..46648012 [GRCh38]
Chr21:46530392..48067924 [GRCh37]
Chr21:45354820..46892352 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21q22.3(chr21:45138321-46670405)x1 copy number loss See cases [RCV000052864] Chr21:45138321..46670405 [GRCh38]
Chr21:46558236..48090317 [GRCh37]
Chr21:45382664..46914745 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21q22.3(chr21:45801860-46670405)x1 copy number loss See cases [RCV000052866] Chr21:45801860..46670405 [GRCh38]
Chr21:47221774..48090317 [GRCh37]
Chr21:46046202..46914745 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053042] Chr21:7749532..46623792 [GRCh38]
Chr21:14595524..48043704 [GRCh37]
Chr21:13517395..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053043] Chr21:7749532..46623792 [GRCh38]
Chr21:14629063..48043704 [GRCh37]
Chr21:13550934..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3 copy number gain See cases [RCV000053045] Chr21:7749532..46670546 [GRCh38]
Chr21:15499647..48090458 [GRCh37]
Chr21:14421518..46914886 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053065] Chr21:7749532..46661140 [GRCh38]
Chr21:15499647..48081052 [GRCh37]
Chr21:14421518..46905480 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053067] Chr21:7749532..46661140 [GRCh38]
Chr21:15499847..48081052 [GRCh37]
Chr21:14421718..46905480 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053068] Chr21:7749532..46670405 [GRCh38]
Chr21:20655360..48090317 [GRCh37]
Chr21:19577231..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053069] Chr21:7749532..46670405 [GRCh38]
Chr21:34423268..48090317 [GRCh37]
Chr21:33345138..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053039] Chr21:7749532..46623792 [GRCh38]
Chr21:14524963..48043704 [GRCh37]
Chr21:13446834..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.3(chr21:45471378-46670405)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053073]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053073]|See cases [RCV000053073] Chr21:45471378..46670405 [GRCh38]
Chr21:46891292..48090317 [GRCh37]
Chr21:45715720..46914745 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3 copy number gain See cases [RCV000053040] Chr21:7749532..46653090 [GRCh38]
Chr21:14539679..48073002 [GRCh37]
Chr21:13461550..46897430 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
NM_006657.2(FTCD):c.1297A>T (p.Lys433Ter) single nucleotide variant Malignant melanoma [RCV000063859] Chr21:46138887 [GRCh38]
Chr21:47558801 [GRCh37]
Chr21:46383229 [NCBI36]
Chr21:21q22.3		 not provided
NM_206965.2(FTCD):c.1313C>T (p.Ala438Val) single nucleotide variant Glutamate formiminotransferase deficiency [RCV001521596]|not provided [RCV004713247]|not specified [RCV000081447] Chr21:46138638 [GRCh38]
Chr21:46138638..46138639 [GRCh38]
Chr21:47558552 [GRCh37]
Chr21:47558552..47558553 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_206965.2(FTCD):c.1392C>G (p.Ala464=) single nucleotide variant Glutamate formiminotransferase deficiency [RCV001520879]|not provided [RCV001723660]|not specified [RCV000081448] Chr21:46138559 [GRCh38]
Chr21:47558473 [GRCh37]
Chr21:21q22.3		 benign
NM_206965.2(FTCD):c.1480G>A (p.Ala494Thr) single nucleotide variant Inborn genetic diseases [RCV004019567]|not provided [RCV000081449] Chr21:46137298 [GRCh38]
Chr21:47557212 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.417G>A (p.Pro139=) single nucleotide variant FTCD-related disorder [RCV003964935]|Glutamate formiminotransferase deficiency [RCV001520880]|not provided [RCV004713248]|not specified [RCV000081450] Chr21:46151931 [GRCh38]
Chr21:47571845 [GRCh37]
Chr21:21q22.3		 benign
NM_206965.2(FTCD):c.54+12G>A single nucleotide variant Glutamate formiminotransferase deficiency [RCV001520881]|not provided [RCV004713249]|not specified [RCV000081451] Chr21:46155458 [GRCh38]
Chr21:47575372 [GRCh37]
Chr21:21q22.3		 benign
NM_006657.2(FTCD):c.990dupG (p.Pro331Alafs) duplication not provided [RCV000081452] Chr21:46145926 [GRCh38]
Chr21:47565840 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_206965.2(FTCD):c.1366dup (p.Glu456fs) duplication Glutamate formiminotransferase deficiency [RCV001199937]|Inborn genetic diseases [RCV002516627]|not provided [RCV000174355] Chr21:46138584..46138585 [GRCh38]
Chr21:47558498..47558499 [GRCh37]
Chr21:21q22.3		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206965.2(FTCD):c.750C>G (p.Tyr250Ter) single nucleotide variant GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY [RCV001331604] Chr21:46150412 [GRCh38]
Chr21:47570326 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_206965.2(FTCD):c.1607T>A (p.Leu536Ter) single nucleotide variant Glutamate formiminotransferase deficiency [RCV001199935]|not provided [RCV000174758]|not specified [RCV001731503] Chr21:46137006 [GRCh38]
Chr21:47556920 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic|uncertain significance
Single allele duplication Glutamate formiminotransferase deficiency [RCV000180633] Chr21:47565839..47565840 [GRCh37] pathogenic
GRCh37/hg19 21q22.3(chr21:47486134-47796810)x3 copy number gain See cases [RCV000184073] Chr21:47486134..47796810 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh38/hg38 21q22.3(chr21:43071168-46670405)x1 copy number loss See cases [RCV000133675] Chr21:43071168..46670405 [GRCh38]
Chr21:44491278..48090317 [GRCh37]
Chr21:43364347..46914745 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3 copy number gain See cases [RCV000134727] Chr21:7749532..46653084 [GRCh38]
Chr21:15485038..48072996 [GRCh37]
Chr21:14406909..46897424 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3 copy number gain See cases [RCV000134509] Chr21:7749532..46649831 [GRCh38]
Chr21:14577835..48069743 [GRCh37]
Chr21:13499706..46894171 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134119] Chr21:7749532..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000135310] Chr21:7749532..46670346 [GRCh38]
Chr21:34111831..48090258 [GRCh37]
Chr21:33033702..46914686 [NCBI36]
Chr21:21q22.11-22.3		 pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3 copy number gain See cases [RCV000134972] Chr21:36206067..46670405 [GRCh38]
Chr21:37578365..48090317 [GRCh37]
Chr21:36500235..46914745 [NCBI36]
Chr21:21q22.12-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3 copy number gain See cases [RCV000134836] Chr21:7749532..46664250 [GRCh38]
Chr21:15485038..48084162 [GRCh37]
Chr21:14406909..46908590 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134842] Chr21:7749532..46670440 [GRCh38]
Chr21:15513244..48090352 [GRCh37]
Chr21:14435115..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3 copy number gain See cases [RCV000135448] Chr21:7749532..46660999 [GRCh38]
Chr21:15499847..48080911 [GRCh37]
Chr21:14421718..46905339 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3 copy number gain See cases [RCV000136142] Chr21:36519173..46670405 [GRCh38]
Chr21:37891471..48090317 [GRCh37]
Chr21:36813341..46914745 [NCBI36]
Chr21:21q22.13-22.3		 pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1 copy number loss See cases [RCV000136828] Chr21:34789953..46636538 [GRCh38]
Chr21:36162250..48056450 [GRCh37]
Chr21:35084120..46880878 [NCBI36]
Chr21:21q22.12-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137337] Chr21:7749532..46671060 [GRCh38]
Chr21:10697897..48090972 [GRCh37]
Chr21:1..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137255] Chr21:7749532..46671060 [GRCh38]
Chr21:35319225..48090972 [GRCh37]
Chr21:34241095..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1 copy number loss See cases [RCV000137341] Chr21:41733640..46671060 [GRCh38]
Chr21:43153800..48090972 [GRCh37]
Chr21:42026869..46915400 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138216] Chr21:7749532..46671060 [GRCh38]
Chr21:10944001..48090972 [GRCh37]
Chr21:9965872..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1 copy number loss See cases [RCV000138096] Chr21:37669628..46671060 [GRCh38]
Chr21:39041930..48090972 [GRCh37]
Chr21:37963800..46915400 [NCBI36]
Chr21:21q22.13-22.3		 pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3 copy number gain See cases [RCV000138164] Chr21:36066991..46671060 [GRCh38]
Chr21:37439289..48090972 [GRCh37]
Chr21:36361159..46915400 [NCBI36]
Chr21:21q22.12-22.3		 pathogenic
GRCh38/hg38 21q22.3(chr21:45877354-46543273)x3 copy number gain See cases [RCV000137820] Chr21:45877354..46543273 [GRCh38]
Chr21:47297268..47963186 [GRCh37]
Chr21:46121696..46787614 [NCBI36]
Chr21:21q22.3		 likely benign
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138436] Chr21:7749532..46671060 [GRCh38]
Chr21:15451032..48090972 [GRCh37]
Chr21:14372903..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1 copy number loss See cases [RCV000139158] Chr21:40296025..46670440 [GRCh38]
Chr21:41667952..48090352 [GRCh37]
Chr21:40589822..46914780 [NCBI36]
Chr21:21q22.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000140103] Chr21:7749532..46670346 [GRCh38]
Chr21:14577894..48090258 [GRCh37]
Chr21:13499765..46914686 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3 copy number gain See cases [RCV000141346] Chr21:7749532..46698247 [GRCh38]
Chr21:14577835..48118159 [GRCh37]
Chr21:13499706..46942587 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000141827] Chr21:7749532..46677460 [GRCh38]
Chr21:28285299..48097372 [GRCh37]
Chr21:27207170..46921800 [NCBI36]
Chr21:21q21.3-22.3		 uncertain significance
GRCh38/hg38 21q22.3(chr21:45903036-46677460)x1 copy number loss See cases [RCV000141901] Chr21:45903036..46677460 [GRCh38]
Chr21:47322950..48097372 [GRCh37]
Chr21:46147378..46921800 [NCBI36]
Chr21:21q22.3		 uncertain significance
GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1 copy number loss See cases [RCV000142311] Chr21:38816399..46677460 [GRCh38]
Chr21:40188323..48097372 [GRCh37]
Chr21:39110193..46921800 [NCBI36]
Chr21:21q22.2-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1 copy number loss See cases [RCV000142427] Chr21:7817158..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.3(chr21:42913213-46670405)x1 copy number loss See cases [RCV000142600] Chr21:42913213..46670405 [GRCh38]
Chr21:44333323..48090317 [GRCh37]
Chr21:43206392..46914745 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143376] Chr21:7749532..46677460 [GRCh38]
Chr21:15006458..48097372 [GRCh37]
Chr21:13928329..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460) copy number gain See cases [RCV000143160] Chr21:7749532..46677460 [GRCh38]
Chr21:14386013..48097372 [GRCh37]
Chr21:13307884..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1 copy number loss See cases [RCV000143335] Chr21:42129699..46671060 [GRCh38]
Chr21:43549809..48090972 [GRCh37]
Chr21:42422878..46915400 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143120] Chr21:7749532..46677460 [GRCh38]
Chr21:15006457..48097372 [GRCh37]
Chr21:13928328..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
NM_206965.2(FTCD):c.*19C>T single nucleotide variant not provided [RCV004713386]|not specified [RCV000153274] Chr21:46136968 [GRCh38]
Chr21:47556882 [GRCh37]
Chr21:21q22.3		 benign
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000148131] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
NM_206965.2(FTCD):c.1583A>C (p.Gln528Pro) single nucleotide variant not provided [RCV000153282] Chr21:46137030 [GRCh38]
Chr21:47556944 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.236A>C (p.Gln79Pro) single nucleotide variant Glutamate formiminotransferase deficiency [RCV002478571]|Inborn genetic diseases [RCV002517689]|not provided [RCV000175829] Chr21:46154151 [GRCh38]
Chr21:47574065 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1358C>T (p.Thr453Met) single nucleotide variant Glutamate formiminotransferase deficiency [RCV000191087]|Inborn genetic diseases [RCV002517909]|Intellectual disability [RCV001251767]|not provided [RCV003436983] Chr21:46138593 [GRCh38]
Chr21:47558507 [GRCh37]
Chr21:21q22.3		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206965.2(FTCD):c.677T>C (p.Leu226Pro) single nucleotide variant Glutamate formiminotransferase deficiency [RCV001361850]|Inborn genetic diseases [RCV004984722]|not provided [RCV000179467] Chr21:46150485 [GRCh38]
Chr21:47570399 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.906+15C>T single nucleotide variant Glutamate formiminotransferase deficiency [RCV001523711]|not provided [RCV004713474]|not specified [RCV000270048] Chr21:46150104 [GRCh38]
Chr21:47570018 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_206965.2(FTCD):c.430G>A (p.Gly144Arg) single nucleotide variant Glutamate formiminotransferase deficiency [RCV002519116]|Inborn genetic diseases [RCV002519117]|not provided [RCV000345236] Chr21:46151918 [GRCh38]
Chr21:47571832 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:44828064-48097372)x1 copy number loss See cases [RCV000449026] Chr21:44828064..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21q22.3(chr21:45850091-46137287)x1 copy number loss Breast ductal adenocarcinoma [RCV000207179] Chr21:45850091..46137287 [GRCh38]
Chr21:47270005..47557201 [GRCh37]
Chr21:21q22.3		 uncertain significance
Single allele deletion Axenfeld-Rieger syndrome type 3 [RCV000677943] Chr21:46363553..48080926 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:46363553-48080926)x1 copy number loss See cases [RCV000239957] Chr21:46363553..48080926 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1 copy number loss See cases [RCV000239948] Chr21:15538655..48080926 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_206965.2(FTCD):c.452A>T (p.Lys151Met) single nucleotide variant Glutamate formiminotransferase deficiency [RCV000326875]|not provided [RCV004713475]|not specified [RCV000405401] Chr21:46151896 [GRCh38]
Chr21:47571810 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 21q22.3(chr21:47550596-48080926)x1 copy number loss See cases [RCV000240055] Chr21:47550596..48080926 [GRCh37]
Chr21:21q22.3		 likely pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3 copy number gain See cases [RCV000240397] Chr21:15410701..48090317 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:46682125-48090317)x3 copy number gain See cases [RCV000240574] Chr21:46682125..48090317 [GRCh37]
Chr21:21q22.3		 likely pathogenic
GRCh37/hg19 21q22.3(chr21:47516746-47556220)x1 copy number loss See cases [RCV000240584] Chr21:47516746..47556220 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_206965.2(FTCD):c.1050C>G (p.Arg350=) single nucleotide variant Glutamate formiminotransferase deficiency [RCV000303814]|not provided [RCV004713721] Chr21:46145866 [GRCh38]
Chr21:47565780 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_206965.2(FTCD):c.476C>T (p.Ala159Val) single nucleotide variant Glutamate formiminotransferase deficiency [RCV000290636]|Inborn genetic diseases [RCV004984839] Chr21:46151718 [GRCh38]
Chr21:47571632 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.622C>T (p.Arg208Cys) single nucleotide variant GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY [RCV000275420] Chr21:46151572 [GRCh38]
Chr21:47571486 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.643C>T (p.Arg215Cys) single nucleotide variant FTCD-related disorder [RCV003910330]|Glutamate formiminotransferase deficiency [RCV000260202]|not provided [RCV004703854] Chr21:46150519 [GRCh38]
Chr21:47570433 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206965.2(FTCD):c.301G>A (p.Val101Met) single nucleotide variant FTCD-related disorder [RCV003983022]|Glutamate formiminotransferase deficiency [RCV001515932]|not provided [RCV001613120] Chr21:46152973 [GRCh38]
Chr21:46152973..46152974 [GRCh38]
Chr21:47572887 [GRCh37]
Chr21:47572887..47572888 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_206965.2(FTCD):c.988G>A (p.Gly330Arg) single nucleotide variant Glutamate formiminotransferase deficiency [RCV001909333] Chr21:46145928 [GRCh38]
Chr21:47565842 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.-33C>T single nucleotide variant GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY [RCV000320578] Chr21:46155556 [GRCh38]
Chr21:47575470 [GRCh37]
Chr21:21q22.3		 benign
NM_206965.2(FTCD):c.153C>T (p.Phe51=) single nucleotide variant FTCD-related disorder [RCV003939509] Chr21:46154234 [GRCh38]
Chr21:47574148 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_206965.2(FTCD):c.1589C>T (p.Ala530Val) single nucleotide variant Glutamate formiminotransferase deficiency [RCV001920884]|Inborn genetic diseases [RCV002556406] Chr21:46137024 [GRCh38]
Chr21:47556938 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.250C>T (p.Arg84Cys) single nucleotide variant Glutamate formiminotransferase deficiency [RCV002638137] Chr21:46153024 [GRCh38]
Chr21:47572938 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.92C>T (p.Pro31Leu) single nucleotide variant Inborn genetic diseases [RCV004387215] Chr21:46154295 [GRCh38]
Chr21:47574209 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006657.3(FTCD):c.*55A>G single nucleotide variant GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY [RCV000363403] Chr21:46136442 [GRCh38]
Chr21:47556356 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.49C>A (p.Gln17Lys) single nucleotide variant Glutamate formiminotransferase deficiency [RCV003779885]|Inborn genetic diseases [RCV003240843] Chr21:46155475 [GRCh38]
Chr21:47575389 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.285C>T (p.Pro95=) single nucleotide variant Glutamate formiminotransferase deficiency [RCV002967408] Chr21:46152989 [GRCh38]
Chr21:47572903 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_206965.2(FTCD):c.192C>T (p.Asn64=) single nucleotide variant Glutamate formiminotransferase deficiency [RCV000367273] Chr21:46154195 [GRCh38]
Chr21:47574109 [GRCh37]
Chr21:21q22.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206965.2(FTCD):c.100G>A (p.Val34Met) single nucleotide variant Inborn genetic diseases [RCV002877924] Chr21:46154287 [GRCh38]
Chr21:47574201 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1337G>A (p.Arg446Gln) single nucleotide variant Glutamate formiminotransferase deficiency [RCV000350124] Chr21:46138614 [GRCh38]
Chr21:47558528 [GRCh37]
Chr21:21q22.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206965.2(FTCD):c.378C>T (p.Tyr126=) single nucleotide variant Glutamate formiminotransferase deficiency [RCV000281981]|not provided [RCV004713722] Chr21:46151970 [GRCh38]
Chr21:47571884 [GRCh37]
Chr21:21q22.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206965.2(FTCD):c.1443+9del deletion Glutamate formiminotransferase deficiency [RCV000374479] Chr21:46138499 [GRCh38]
Chr21:47558413 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_206965.2(FTCD):c.-42T>C single nucleotide variant GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY [RCV000375679] Chr21:46155565 [GRCh38]
Chr21:47575479 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.36G>A (p.Ser12=) single nucleotide variant Glutamate formiminotransferase deficiency [RCV001512573] Chr21:46155488 [GRCh38]
Chr21:47575402 [GRCh37]
Chr21:21q22.3		 benign|uncertain significance
NM_206965.2(FTCD):c.600G>A (p.Ala200=) single nucleotide variant FTCD-AS1-related disorder [RCV003943652]|Glutamate formiminotransferase deficiency [RCV002966618] Chr21:46151594 [GRCh38]
Chr21:47571508 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_206965.2(FTCD):c.48C>G (p.Asn16Lys) single nucleotide variant Inborn genetic diseases [RCV004980244] Chr21:46155476 [GRCh38]
Chr21:47575390 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.571G>A (p.Gly191Ser) single nucleotide variant Glutamate formiminotransferase deficiency [RCV001871420]|Inborn genetic diseases [RCV004616832] Chr21:46151623 [GRCh38]
Chr21:47571537 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_206965.2(FTCD):c.1271G>A (p.Arg424Lys) single nucleotide variant GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY [RCV000291961] Chr21:46138913 [GRCh38]
Chr21:47558827 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.636+9G>A single nucleotide variant Glutamate formiminotransferase deficiency [RCV002523195] Chr21:46151549 [GRCh38]
Chr21:47571463 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_206965.2(FTCD):c.274C>T (p.Pro92Ser) single nucleotide variant Glutamate formiminotransferase deficiency [RCV001342548]|not provided [RCV000290244] Chr21:46153000 [GRCh38]
Chr21:47572914 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1352C>T (p.Pro451Leu) single nucleotide variant Glutamate formiminotransferase deficiency [RCV001304863]|Inborn genetic diseases [RCV004619264] Chr21:46138599 [GRCh38]
Chr21:47558513 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.407G>A (p.Arg136Gln) single nucleotide variant Glutamate formiminotransferase deficiency [RCV001521382]|not provided [RCV003437084] Chr21:46151941 [GRCh38]
Chr21:47571855 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_206965.2(FTCD):c.382G>A (p.Glu128Lys) single nucleotide variant FTCD-related disorder [RCV003922491]|Glutamate formiminotransferase deficiency [RCV000395698]|Intellectual disability [RCV001251768] Chr21:46151966 [GRCh38]
Chr21:47571880 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206965.2(FTCD):c.368-15C>T single nucleotide variant Glutamate formiminotransferase deficiency [RCV002720404] Chr21:46151995 [GRCh38]
Chr21:47571909 [GRCh37]
Chr21:21q22.3		 benign|uncertain significance
NM_206965.2(FTCD):c.1409G>A (p.Arg470Gln) single nucleotide variant Glutamate formiminotransferase deficiency [RCV002057781]|not provided [RCV003457675] Chr21:46138542 [GRCh38]
Chr21:47558456 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206965.2(FTCD):c.1166C>G (p.Thr389Arg) single nucleotide variant Glutamate formiminotransferase deficiency [RCV000343534] Chr21:46145511 [GRCh38]
Chr21:47565425 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.267C>T (p.Asp89=) single nucleotide variant Glutamate formiminotransferase deficiency [RCV000399571]|not provided [RCV003437085] Chr21:46153007 [GRCh38]
Chr21:47572921 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206965.2(FTCD):c.1220C>A (p.Thr407Lys) single nucleotide variant Glutamate formiminotransferase deficiency [RCV000399715]|not provided [RCV003437083] Chr21:46145457 [GRCh38]
Chr21:47565371 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206965.2(FTCD):c.1408C>T (p.Arg470Trp) single nucleotide variant Inborn genetic diseases [RCV003358762] Chr21:46138543 [GRCh38]
Chr21:47558457 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1261-13C>G single nucleotide variant GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY [RCV000346831] Chr21:46138936 [GRCh38]
Chr21:47558850 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1122G>A (p.Val374=) single nucleotide variant Glutamate formiminotransferase deficiency [RCV000402350] Chr21:46145555 [GRCh38]
Chr21:47565469 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206965.2(FTCD):c.625G>A (p.Gly209Arg) single nucleotide variant Glutamate formiminotransferase deficiency [RCV001316329] Chr21:46151569 [GRCh38]
Chr21:47571483 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.*1C>T single nucleotide variant Glutamate formiminotransferase deficiency [RCV000305430] Chr21:46136986 [GRCh38]
Chr21:47556900 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.750C>T (p.Tyr250=) single nucleotide variant GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY [RCV000354182] Chr21:46150412 [GRCh38]
Chr21:47570326 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.197C>T (p.Ala66Val) single nucleotide variant Glutamate formiminotransferase deficiency [RCV000803813]|not provided [RCV000596932] Chr21:46154190 [GRCh38]
Chr21:47574104 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.367+13C>T single nucleotide variant GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY [RCV000399239] Chr21:46152894 [GRCh38]
Chr21:47572808 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.*116T>C single nucleotide variant Collagen 6-related myopathy [RCV000329114]|Glutamate formiminotransferase deficiency [RCV000305242]|Myosclerosis [RCV000365151]|not provided [RCV001711966] Chr21:46132668 [GRCh38]
Chr21:47552582 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_006657.3(FTCD):c.*67C>T single nucleotide variant Collagen 6-related myopathy [RCV000382233]|Glutamate formiminotransferase deficiency [RCV000308685]|Myosclerosis [RCV000332228] Chr21:46136430 [GRCh38]
Chr21:47556344 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_206965.2(FTCD):c.1470C>T (p.Gly490=) single nucleotide variant Collagen 6-related myopathy [RCV000339511]|FTCD-related disorder [RCV003972435]|Glutamate formiminotransferase deficiency [RCV000319912]|Myosclerosis [RCV000404701]|not provided [RCV004713720] Chr21:46137308 [GRCh38]
Chr21:47557222 [GRCh37]
Chr21:21q22.3		 benign
NM_006657.3(FTCD):c.*114A>G single nucleotide variant GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY [RCV000348249] Chr21:46136383 [GRCh38]
Chr21:47556297 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1202C>T (p.Ala401Val) single nucleotide variant GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY [RCV000307333] Chr21:46145475 [GRCh38]
Chr21:47565389 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1540-17_1540-16del deletion Collagen 6-related myopathy [RCV000284522]|Glutamate formiminotransferase deficiency [RCV000264752]|Myosclerosis [RCV000383470] Chr21:46137089..46137090 [GRCh38]
Chr21:47557003..47557004 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006657.3(FTCD):c.*113C>T single nucleotide variant Glutamate formiminotransferase deficiency [RCV000390461] Chr21:46136384 [GRCh38]
Chr21:47556298 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006657.3(FTCD):c.*15C>A single nucleotide variant Collagen 6-related myopathy [RCV000328840]|FTCD-related disorder [RCV003957754]|Glutamate formiminotransferase deficiency [RCV000269021]|Myosclerosis [RCV000287869] Chr21:46136482 [GRCh38]
Chr21:47556396 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_001849.4(COL6A2):c.*119A>G single nucleotide variant Collagen 6-related myopathy [RCV000270460]|Glutamate formiminotransferase deficiency [RCV000360015]|Myosclerosis [RCV000325493]|not provided [RCV001712072] Chr21:46132671 [GRCh38]
Chr21:47552585 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_006657.3(FTCD):c.*127C>A single nucleotide variant COL6A2-related disorder [RCV004530381]|Collagen 6-related myopathy [RCV000366962]|Glutamate formiminotransferase deficiency [RCV000312136]|Myosclerosis [RCV000277206] Chr21:46136370 [GRCh38]
Chr21:47556284 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_001849.4(COL6A2):c.*158C>T single nucleotide variant Collagen 6-related myopathy [RCV000373138]|Glutamate formiminotransferase deficiency [RCV000397434]|Myosclerosis [RCV000278605]|not provided [RCV001711967] Chr21:46132710 [GRCh38]
Chr21:46132710..46132711 [GRCh38]
Chr21:47552624 [GRCh37]
Chr21:47552624..47552625 [GRCh37]
Chr21:21q22.3		 benign
NM_001849.4(COL6A2):c.2697G>T (p.Thr899=) single nucleotide variant Bethlem myopathy 1A [RCV001521916]|Collagen 6-related myopathy [RCV000380522]|Glutamate formiminotransferase deficiency [RCV000388741]|Myosclerosis [RCV000323613]|not provided [RCV001711231]|not specified [RCV000079883] Chr21:46132189 [GRCh38]
Chr21:47552103 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_001849.4(COL6A2):c.2724A>G (p.Thr908=) single nucleotide variant Bethlem myopathy 1A [RCV001521303]|Collagen 6-related myopathy [RCV000386615]|Glutamate formiminotransferase deficiency [RCV000289634]|Myosclerosis [RCV000348436]|not provided [RCV000710897]|not specified [RCV000079884] Chr21:46132216 [GRCh38]
Chr21:47552130 [GRCh37]
Chr21:21q22.3		 benign
NM_001849.4(COL6A2):c.2803G>A (p.Gly935Arg) single nucleotide variant Bethlem myopathy 1A [RCV001519261]|Collagen 6-related myopathy [RCV000305730]|Glutamate formiminotransferase deficiency [RCV000344640]|Myosclerosis [RCV000267009]|not provided [RCV000710898]|not specified [RCV000079887] Chr21:46132295 [GRCh38]
Chr21:46132295..46132296 [GRCh38]
Chr21:47552209 [GRCh37]
Chr21:47552209..47552210 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_001849.4(COL6A2):c.2979C>T (p.Arg993=) single nucleotide variant Bethlem myopathy 1A [RCV001521304]|Collagen 6-related myopathy [RCV000373863]|Glutamate formiminotransferase deficiency [RCV000404594]|Myosclerosis [RCV000335530]|not provided [RCV004703222]|not specified [RCV000079889] Chr21:46132471 [GRCh38]
Chr21:47552385 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_001849.4(COL6A2):c.3043A>C (p.Ile1015Leu) single nucleotide variant Bethlem myopathy 1A [RCV001082806]|Collagen 6-related myopathy [RCV000333824]|Glutamate formiminotransferase deficiency [RCV000341066]|Myosclerosis [RCV000353550]|not provided [RCV000224012]|not specified [RCV000079891] Chr21:46132535 [GRCh38]
Chr21:47552449 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_001849.4(COL6A2):c.2592G>A (p.Thr864=) single nucleotide variant Bethlem myopathy 1A [RCV000554539]|Collagen 6-related myopathy [RCV000347826]|Glutamate formiminotransferase deficiency [RCV000352852]|Myosclerosis [RCV000290550]|not provided [RCV004703381]|not specified [RCV000116793] Chr21:46132084 [GRCh38]
Chr21:47551998 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001849.4(COL6A2):c.2980G>A (p.Ala994Thr) single nucleotide variant Bethlem myopathy 1A [RCV000557640]|Bethlem myopathy 1A [RCV002498506]|Collagen 6-related myopathy [RCV000281717]|Glutamate formiminotransferase deficiency [RCV000290682]|Myosclerosis [RCV000339033]|not provided [RCV004703382]|not specified [RCV000116794] Chr21:46132472 [GRCh38]
Chr21:47552386 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001849.4(COL6A2):c.*61G>A single nucleotide variant Collagen 6-related myopathy [RCV000290967]|Glutamate formiminotransferase deficiency [RCV000398996]|Myosclerosis [RCV000400817]|not provided [RCV001712129] Chr21:46132613 [GRCh38]
Chr21:47552527 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_206965.2(FTCD):c.211C>T (p.Arg71Ter) single nucleotide variant FTCD-related disorder [RCV003403369]|Glutamate formiminotransferase deficiency [RCV001224942]|not provided [RCV000578849] Chr21:46154176 [GRCh38]
Chr21:47574090 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic|uncertain significance
NM_206965.2(FTCD):c.1448C>T (p.Ala483Val) single nucleotide variant Glutamate formiminotransferase deficiency [RCV002067119]|Inborn genetic diseases [RCV002536465]|not provided [RCV000731472] Chr21:46137330 [GRCh38]
Chr21:47557244 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
GRCh37/hg19 21q22.3(chr21:46955240-48080867)x1 copy number loss See cases [RCV000449447] Chr21:46955240..48080867 [GRCh37]
Chr21:21q22.3		 likely pathogenic|uncertain significance
GRCh37/hg19 21q22.3(chr21:43268694-48097372)x1 copy number loss See cases [RCV000446372] Chr21:43268694..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43598607-48097372)x1 copy number loss See cases [RCV000447618] Chr21:43598607..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_206965.2(FTCD):c.296T>C (p.Val99Ala) single nucleotide variant Glutamate formiminotransferase deficiency [RCV001089091]|not provided [RCV000436784] Chr21:46152978 [GRCh38]
Chr21:47572892 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372)x1 copy number loss See cases [RCV000448694] Chr21:42410406..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:45773272-48097372)x1 copy number loss See cases [RCV000448877] Chr21:45773272..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3 copy number gain See cases [RCV000447884] Chr21:14771770..48080867 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)x3 copy number gain See cases [RCV000447729] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain See cases [RCV000447749] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_206965.2(FTCD):c.1098+15A>G single nucleotide variant not specified [RCV000455573] Chr21:46145803 [GRCh38]
Chr21:47565717 [GRCh37]
Chr21:21q22.3		 likely benign
GRCh37/hg19 21q22.3(chr21:43498966-48097372)x1 copy number loss See cases [RCV000512071] Chr21:43498966..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:38699545-48097372)x1 copy number loss See cases [RCV000510684] Chr21:38699545..48097372 [GRCh37]
Chr21:21q22.13-22.3		 pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:41254101-48097372)x1 copy number loss See cases [RCV000511808] Chr21:41254101..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372) copy number gain See cases [RCV000511589] Chr21:15006458..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:47563979-47681958)x4 copy number gain See cases [RCV000511854] Chr21:47563979..47681958 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.13-22.3(chr21:37914123-48097372)x1 copy number loss See cases [RCV000510798] Chr21:37914123..48097372 [GRCh37]
Chr21:21q22.13-22.3		 pathogenic
NM_206965.2(FTCD):c.1373_1375del (p.Val458del) deletion not provided [RCV004823145]|not specified [RCV003317888] Chr21:46138576..46138578 [GRCh38]
Chr21:47558490..47558492 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.439G>A (p.Glu147Lys) single nucleotide variant Glutamate formiminotransferase deficiency [RCV000526829] Chr21:46151909 [GRCh38]
Chr21:47571823 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.425G>A (p.Arg142Gln) single nucleotide variant Glutamate formiminotransferase deficiency [RCV000634905] Chr21:46151923 [GRCh38]
Chr21:47571837 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.35C>T (p.Ser12Leu) single nucleotide variant Glutamate formiminotransferase deficiency [RCV000634906] Chr21:46155489 [GRCh38]
Chr21:47575403 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.644G>A (p.Arg215His) single nucleotide variant Inborn genetic diseases [RCV003251692] Chr21:46150518 [GRCh38]
Chr21:47570432 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.378C>G (p.Tyr126Ter) single nucleotide variant Glutamate formiminotransferase deficiency [RCV000528204] Chr21:46151970 [GRCh38]
Chr21:47571884 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:47563979-47681958)x3 copy number gain See cases [RCV000512553] Chr21:47563979..47681958 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.2-22.3(chr21:42335622-48097372)x1 copy number loss not provided [RCV000684165] Chr21:42335622..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:47563979-48004323)x3 copy number gain not provided [RCV000684146] Chr21:47563979..48004323 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:43687353-48097372)x1 copy number loss not provided [RCV000684163] Chr21:43687353..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_206965.2(FTCD):c.1015T>A (p.Ser339Thr) single nucleotide variant Glutamate formiminotransferase deficiency [RCV000699873] Chr21:46145901 [GRCh38]
Chr21:47565815 [GRCh37]
Chr21:21q22.3		 uncertain significance
Single allele duplication not provided [RCV000768458] Chr21:43010560..48093051 [GRCh37]
Chr21:21q22.3		 likely pathogenic
Single allele duplication Autism [RCV000754229] Chr21:43403441..46673937 [GRCh38]
Chr21:21q22.3		 likely pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10827533-48100155)x3 copy number gain not provided [RCV000741419] Chr21:10827533..48100155 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:47494789-48117896)x3 copy number gain not provided [RCV000741649] Chr21:47494789..48117896 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:47551909-47558507)x1 copy number loss not provided [RCV000741652] Chr21:47551909..47558507 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q22.3(chr21:47558501-47581961)x3 copy number gain not provided [RCV000741653] Chr21:47558501..47581961 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21p11.2-q22.3(chr21:10699330-48117896)x3 copy number gain not provided [RCV000741413] Chr21:10699330..48117896 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10704198-48117896)x3 copy number gain not provided [RCV000741415] Chr21:10704198..48117896 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10824040-48090629)x3 copy number gain not provided [RCV000741418] Chr21:10824040..48090629 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
NM_206965.2(FTCD):c.141C>T (p.Thr47=) single nucleotide variant FTCD-related disorder [RCV003948218]|Glutamate formiminotransferase deficiency [RCV001414815] Chr21:46154246 [GRCh38]
Chr21:47574160 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.1539+4_1539+11del deletion Glutamate formiminotransferase deficiency [RCV001045132] Chr21:46137228..46137235 [GRCh38]
Chr21:47557142..47557149 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1294G>A (p.Glu432Lys) single nucleotide variant not provided [RCV000997849] Chr21:46138890 [GRCh38]
Chr21:47558804 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1260+9C>T single nucleotide variant Glutamate formiminotransferase deficiency [RCV002539403] Chr21:46145408 [GRCh38]
Chr21:47565322 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.1168A>G (p.Thr390Ala) single nucleotide variant Glutamate formiminotransferase deficiency [RCV000983820]|Inborn genetic diseases [RCV003243386] Chr21:46145509 [GRCh38]
Chr21:47565423 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_206965.2(FTCD):c.1206G>A (p.Ser402=) single nucleotide variant Glutamate formiminotransferase deficiency [RCV000904075] Chr21:46145471 [GRCh38]
Chr21:47565385 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.763C>T (p.Arg255Ter) single nucleotide variant Glutamate formiminotransferase deficiency [RCV000779361]|Inborn genetic diseases [RCV002535653] Chr21:46150399 [GRCh38]
Chr21:47570313 [GRCh37]
Chr21:21q22.3		 pathogenic|uncertain significance
NM_206965.2(FTCD):c.1291del (p.Glu431fs) deletion Glutamate formiminotransferase deficiency [RCV000778645] Chr21:46138893 [GRCh38]
Chr21:47558807 [GRCh37]
Chr21:21q22.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_206965.2(FTCD):c.997del (p.Arg333fs) deletion Glutamate formiminotransferase deficiency [RCV000778646] Chr21:46145919 [GRCh38]
Chr21:47565833 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.766_767del (p.Glu256fs) microsatellite Glutamate formiminotransferase deficiency [RCV000778647] Chr21:46150395..46150396 [GRCh38]
Chr21:47570309..47570310 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.966C>A (p.Ile322=) single nucleotide variant not provided [RCV000900569] Chr21:46146268 [GRCh38]
Chr21:47566182 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.129C>T (p.Ser43=) single nucleotide variant Glutamate formiminotransferase deficiency [RCV002064883] Chr21:46154258 [GRCh38]
Chr21:47574172 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.835C>T (p.Leu279=) single nucleotide variant not provided [RCV000872532] Chr21:46150190 [GRCh38]
Chr21:47570104 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.379G>A (p.Gly127Ser) single nucleotide variant Glutamate formiminotransferase deficiency [RCV001879833]|Inborn genetic diseases [RCV004619591]|Intellectual disability [RCV001251766] Chr21:46151969 [GRCh38]
Chr21:47571883 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_206965.2(FTCD):c.1312G>A (p.Ala438Thr) single nucleotide variant Glutamate formiminotransferase deficiency [RCV000799465] Chr21:46138639 [GRCh38]
Chr21:47558553 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.959G>A (p.Arg320Gln) single nucleotide variant Glutamate formiminotransferase deficiency [RCV000823458]|Inborn genetic diseases [RCV003279118]|Myoepithelial tumor [RCV002463741]|not provided [RCV004588298] Chr21:46146275 [GRCh38]
Chr21:47566189 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1364C>T (p.Ala455Val) single nucleotide variant Glutamate formiminotransferase deficiency [RCV000824536]|Inborn genetic diseases [RCV002536028] Chr21:46138587 [GRCh38]
Chr21:47558501 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.9:g.(?_46136967)_(46155543_?)dup duplication Glutamate formiminotransferase deficiency [RCV001031692] Chr21:47556881..47575457 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.469G>T (p.Asp157Tyr) single nucleotide variant FTCD-AS1-related disorder [RCV003935944]|Glutamate formiminotransferase deficiency [RCV001444399] Chr21:46151725 [GRCh38]
Chr21:47571639 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.857G>A (p.Cys286Tyr) single nucleotide variant Glutamate formiminotransferase deficiency [RCV000813463]|Inborn genetic diseases [RCV004028793] Chr21:46150168 [GRCh38]
Chr21:47570082 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.469G>A (p.Asp157Asn) single nucleotide variant Glutamate formiminotransferase deficiency [RCV000813735] Chr21:46151725 [GRCh38]
Chr21:47571639 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.319T>C (p.Cys107Arg) single nucleotide variant Glutamate formiminotransferase deficiency [RCV000824060]|Inborn genetic diseases [RCV004029168]|Intellectual disability [RCV001251762] Chr21:46152955 [GRCh38]
Chr21:47572869 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV000846937] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_206965.2(FTCD):c.1577A>G (p.Lys526Arg) single nucleotide variant not provided [RCV000997848] Chr21:46137036 [GRCh38]
Chr21:47556950 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.2-22.3(chr21:42044877-48100155)x3 copy number gain See cases [RCV001007433] Chr21:42044877..48100155 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
NM_206965.2(FTCD):c.521C>T (p.Thr174Met) single nucleotide variant Glutamate formiminotransferase deficiency [RCV001236824] Chr21:46151673 [GRCh38]
Chr21:47571587 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.530G>A (p.Gly177Glu) single nucleotide variant Glutamate formiminotransferase deficiency [RCV001236825] Chr21:46151664 [GRCh38]
Chr21:47571578 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1537dup (p.Gln513fs) duplication not specified [RCV003317889] Chr21:46137240..46137241 [GRCh38]
Chr21:47557154..47557155 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.595A>G (p.Ile199Val) single nucleotide variant Inborn genetic diseases [RCV003291664] Chr21:46151599 [GRCh38]
Chr21:47571513 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1314G>A (p.Ala438=) single nucleotide variant Glutamate formiminotransferase deficiency [RCV001467638] Chr21:46138637 [GRCh38]
Chr21:47558551 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.1353G>A (p.Pro451=) single nucleotide variant Glutamate formiminotransferase deficiency [RCV001468914] Chr21:46138598 [GRCh38]
Chr21:47558512 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.94G>T (p.Gly32Cys) single nucleotide variant Glutamate formiminotransferase deficiency [RCV000908863]|Inborn genetic diseases [RCV004028596] Chr21:46154293 [GRCh38]
Chr21:47574207 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_206965.2(FTCD):c.438C>T (p.Tyr146=) single nucleotide variant not provided [RCV000876624] Chr21:46151910 [GRCh38]
Chr21:47571824 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.919C>T (p.Leu307=) single nucleotide variant FTCD-related disorder [RCV004754592]|Glutamate formiminotransferase deficiency [RCV000872515]|not provided [RCV004714141] Chr21:46146315 [GRCh38]
Chr21:47566229 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q22.3(chr21:45490774-48097372)x1 copy number loss not provided [RCV001007145] Chr21:45490774..48097372 [GRCh37]
Chr21:21q22.3		 likely pathogenic
GRCh37/hg19 21q22.3(chr21:46749869-48097372)x1 copy number loss not provided [RCV001007150] Chr21:46749869..48097372 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_206965.2(FTCD):c.10C>T (p.Leu4=) single nucleotide variant not provided [RCV000914024] Chr21:46155514 [GRCh38]
Chr21:47575428 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.1311G>A (p.Thr437=) single nucleotide variant not provided [RCV000889173] Chr21:46138640 [GRCh38]
Chr21:47558554 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.184del (p.Ala62fs) deletion Glutamate formiminotransferase deficiency [RCV005036743]|not provided [RCV003327952] Chr21:46154203 [GRCh38]
Chr21:47574117 [GRCh37]
Chr21:21q22.3		 likely pathogenic
GRCh37/hg19 21q22.3(chr21:47500415-48097372)x1 copy number loss not provided [RCV002472844] Chr21:47500415..48097372 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:43472147-48097372)x1 copy number loss not provided [RCV001007138] Chr21:43472147..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_206965.2(FTCD):c.774+4A>G single nucleotide variant Glutamate formiminotransferase deficiency [RCV001050040] Chr21:46150384 [GRCh38]
Chr21:47570298 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.984G>C (p.Glu328Asp) single nucleotide variant Glutamate formiminotransferase deficiency [RCV001068694] Chr21:46145932 [GRCh38]
Chr21:47565846 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.*108G>A single nucleotide variant Glutamate formiminotransferase deficiency [RCV001703310]|not provided [RCV004714304] Chr21:46136879 [GRCh38]
Chr21:47556793 [GRCh37]
Chr21:21q22.3		 benign
NM_206965.2(FTCD):c.61G>A (p.Asp21Asn) single nucleotide variant Glutamate formiminotransferase deficiency [RCV001050337] Chr21:46154326 [GRCh38]
Chr21:47574240 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1273C>T (p.Leu425Phe) single nucleotide variant Glutamate formiminotransferase deficiency [RCV001247621]|Inborn genetic diseases [RCV003294155] Chr21:46138911 [GRCh38]
Chr21:47558825 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.862_864del (p.Lys288del) deletion Glutamate formiminotransferase deficiency [RCV001215258] Chr21:46150161..46150163 [GRCh38]
Chr21:47570075..47570077 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:45125672-48097372)x1 copy number loss not provided [RCV001007144] Chr21:45125672..48097372 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:45866973-48097372)x1 copy number loss not provided [RCV001007146] Chr21:45866973..48097372 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1615C>T (p.Arg539Trp) single nucleotide variant Glutamate formiminotransferase deficiency [RCV001231088]|Inborn genetic diseases [RCV002563759] Chr21:46136998 [GRCh38]
Chr21:47556912 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.172G>A (p.Val58Met) single nucleotide variant Glutamate formiminotransferase deficiency [RCV001879832]|Intellectual disability [RCV001251764] Chr21:46154215 [GRCh38]
Chr21:47574129 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_206965.2(FTCD):c.906+7C>T single nucleotide variant Glutamate formiminotransferase deficiency [RCV001403745]|Intellectual disability [RCV001251765] Chr21:46150112 [GRCh38]
Chr21:47570026 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.1540A>G (p.Ile514Val) single nucleotide variant Glutamate formiminotransferase deficiency [RCV002570465]|Inborn genetic diseases [RCV003166572]|Intellectual disability [RCV001251763] Chr21:46137073 [GRCh38]
Chr21:47556987 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_206965.2(FTCD):c.842C>T (p.Ala281Val) single nucleotide variant Glutamate formiminotransferase deficiency [RCV002568718]|Intellectual disability [RCV001251761] Chr21:46150183 [GRCh38]
Chr21:47570097 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3 copy number gain Down syndrome [RCV002284306] Chr21:14420615..48080926 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3 copy number gain See cases [RCV001263025] Chr21:14629063..48090317 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_206965.2(FTCD):c.1429C>T (p.Arg477Trp) single nucleotide variant Glutamate formiminotransferase deficiency [RCV001302815]|Inborn genetic diseases [RCV003166707] Chr21:46138522 [GRCh38]
Chr21:47558436 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:47279953-48097372)x3 copy number gain not provided [RCV001259417] Chr21:47279953..48097372 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1079C>T (p.Ala360Val) single nucleotide variant not provided [RCV002280506] Chr21:46145837 [GRCh38]
Chr21:47565751 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.161C>T (p.Pro54Leu) single nucleotide variant Glutamate formiminotransferase deficiency [RCV001296347]|Inborn genetic diseases [RCV002541836] Chr21:46154226 [GRCh38]
Chr21:47574140 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1443+12C>T single nucleotide variant Glutamate formiminotransferase deficiency [RCV001414912] Chr21:46138496 [GRCh38]
Chr21:47558410 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.1016C>A (p.Ser339Tyr) single nucleotide variant Glutamate formiminotransferase deficiency [RCV001321801]|Inborn genetic diseases [RCV002545099] Chr21:46145900 [GRCh38]
Chr21:47565814 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1077GGC[2] (p.Ala365del) microsatellite Glutamate formiminotransferase deficiency [RCV001363255] Chr21:46145831..46145833 [GRCh38]
Chr21:47565745..47565747 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.214C>T (p.Leu72Phe) single nucleotide variant Glutamate formiminotransferase deficiency [RCV001299574] Chr21:46154173 [GRCh38]
Chr21:47574087 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1317C>T (p.Ala439=) single nucleotide variant Glutamate formiminotransferase deficiency [RCV001395806] Chr21:46138634 [GRCh38]
Chr21:47558548 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.532G>T (p.Ala178Ser) single nucleotide variant Glutamate formiminotransferase deficiency [RCV001294330]|Inborn genetic diseases [RCV004035604] Chr21:46151662 [GRCh38]
Chr21:47571576 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.363G>T (p.Val121=) single nucleotide variant Glutamate formiminotransferase deficiency [RCV001465675] Chr21:46152911 [GRCh38]
Chr21:47572825 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.1383G>T (p.Leu461=) single nucleotide variant Glutamate formiminotransferase deficiency [RCV001503075] Chr21:46138568 [GRCh38]
Chr21:47558482 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.293dup (p.Val99fs) duplication Glutamate formiminotransferase deficiency [RCV001383517] Chr21:46152980..46152981 [GRCh38]
Chr21:47572894..47572895 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
NM_206965.2(FTCD):c.1614C>T (p.Thr538=) single nucleotide variant Glutamate formiminotransferase deficiency [RCV001437198] Chr21:46136999 [GRCh38]
Chr21:47556913 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.795G>A (p.Val265=) single nucleotide variant not provided [RCV001531979] Chr21:46150230 [GRCh38]
Chr21:47570144 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.294C>T (p.Gly98=) single nucleotide variant Glutamate formiminotransferase deficiency [RCV001408182] Chr21:46152980 [GRCh38]
Chr21:47572894 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.969-15_969-14delinsTT indel Glutamate formiminotransferase deficiency [RCV001424193] Chr21:46145961..46145962 [GRCh38]
Chr21:47565875..47565876 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.63C>T (p.Asp21=) single nucleotide variant Glutamate formiminotransferase deficiency [RCV001429598] Chr21:46154324 [GRCh38]
Chr21:47574238 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.282C>T (p.Ile94=) single nucleotide variant Glutamate formiminotransferase deficiency [RCV001432307]|not provided [RCV004704552] Chr21:46152992 [GRCh38]
Chr21:47572906 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.1545C>T (p.His515=) single nucleotide variant Glutamate formiminotransferase deficiency [RCV001460233] Chr21:46137068 [GRCh38]
Chr21:47556982 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.1380G>A (p.Ser460=) single nucleotide variant Glutamate formiminotransferase deficiency [RCV001498149] Chr21:46138571 [GRCh38]
Chr21:47558485 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.1590A>G (p.Ala530=) single nucleotide variant Glutamate formiminotransferase deficiency [RCV001403423] Chr21:46137023 [GRCh38]
Chr21:47556937 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.1443+4dup duplication Glutamate formiminotransferase deficiency [RCV001518822] Chr21:46138498..46138499 [GRCh38]
Chr21:47558412..47558413 [GRCh37]
Chr21:21q22.3		 benign
NM_206965.2(FTCD):c.999A>C (p.Arg333=) single nucleotide variant FTCD-related disorder [RCV003946218]|Glutamate formiminotransferase deficiency [RCV001468859] Chr21:46145917 [GRCh38]
Chr21:47565831 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.1032G>C (p.Val344=) single nucleotide variant Glutamate formiminotransferase deficiency [RCV001440788] Chr21:46145884 [GRCh38]
Chr21:47565798 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.1023C>T (p.Arg341=) single nucleotide variant Glutamate formiminotransferase deficiency [RCV001443604] Chr21:46145893 [GRCh38]
Chr21:47565807 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.1055C>T (p.Ala352Val) single nucleotide variant not provided [RCV001754729] Chr21:46145861 [GRCh38]
Chr21:47565775 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.468C>T (p.Ala156=) single nucleotide variant Glutamate formiminotransferase deficiency [RCV003104387] Chr21:46151726 [GRCh38]
Chr21:47571640 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.623G>A (p.Arg208His) single nucleotide variant FTCD-AS1-related disorder [RCV003931316]|Glutamate formiminotransferase deficiency [RCV002540272]|not provided [RCV001767183] Chr21:46151571 [GRCh38]
Chr21:47571485 [GRCh37]
Chr21:21q22.3		 benign|uncertain significance
GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3 copy number gain See cases [RCV001780078] Chr21:1..48129895 [GRCh37]
Chr21:21p13-q22.3		 pathogenic
NM_206965.2(FTCD):c.1550G>A (p.Arg517His) single nucleotide variant not provided [RCV001765748] Chr21:46137063 [GRCh38]
Chr21:47556977 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:42679089-48097372) copy number loss Delayed speech and language development [RCV002280704] Chr21:42679089..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_206965.2(FTCD):c.224T>C (p.Met75Thr) single nucleotide variant Glutamate formiminotransferase deficiency [RCV002022644]|Inborn genetic diseases [RCV002642174] Chr21:46154163 [GRCh38]
Chr21:47574077 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_44838120)_(47865240_?)del deletion not provided [RCV001987971] Chr21:44838120..47865240 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_47531391)_(47666820_?)dup duplication not provided [RCV001987592] Chr21:47531391..47666820 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1549C>T (p.Arg517Cys) single nucleotide variant Glutamate formiminotransferase deficiency [RCV001911316]|Inborn genetic diseases [RCV002554346] Chr21:46137064 [GRCh38]
Chr21:47556978 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372) copy number gain not specified [RCV002052725] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:45773272-48097372) copy number loss not specified [RCV002052744] Chr21:45773272..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
NC_000021.8:g.(?_45919666)_(47865240_?)del deletion not provided [RCV001947021] Chr21:45919666..47865240 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV001829203] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372) copy number gain not specified [RCV002052723] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_206965.2(FTCD):c.22G>A (p.Val8Ile) single nucleotide variant Glutamate formiminotransferase deficiency [RCV001967827] Chr21:46155502 [GRCh38]
Chr21:47575416 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:47515748-47797894)x3 copy number gain not provided [RCV001829138] Chr21:47515748..47797894 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_43160998)_(47865240_?)dup duplication Cataract 9 multiple types [RCV001913783]|Developmental and epileptic encephalopathy, 30 [RCV003120744]|Primary ciliary dyskinesia [RCV001913782] Chr21:43160998..47865240 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372) copy number loss not specified [RCV002052739] Chr21:42410406..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372) copy number gain not specified [RCV002052724] Chr21:15041209..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:46922436-48097372)x3 copy number gain not provided [RCV001834168] Chr21:46922436..48097372 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1363G>A (p.Ala455Thr) single nucleotide variant Glutamate formiminotransferase deficiency [RCV001888018]|Inborn genetic diseases [RCV002545819] Chr21:46138588 [GRCh38]
Chr21:47558502 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.251G>A (p.Arg84His) single nucleotide variant Glutamate formiminotransferase deficiency [RCV001989896] Chr21:46153023 [GRCh38]
Chr21:47572937 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_46306283)_(47865240_?)del deletion not provided [RCV001943317] Chr21:46306283..47865240 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1311GGC[1] (p.Ala439del) microsatellite Glutamate formiminotransferase deficiency [RCV001888248] Chr21:46138635..46138637 [GRCh38]
Chr21:47558549..47558551 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.200G>A (p.Arg67Gln) single nucleotide variant Glutamate formiminotransferase deficiency [RCV001865136] Chr21:46154187 [GRCh38]
Chr21:47574101 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1261-19T>G single nucleotide variant Glutamate formiminotransferase deficiency [RCV002000248] Chr21:46138942 [GRCh38]
Chr21:47558856 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_206965.2(FTCD):c.1391_1392delinsTG (p.Ala464Val) indel Glutamate formiminotransferase deficiency [RCV001955675]|Inborn genetic diseases [RCV002562866] Chr21:46138559..46138560 [GRCh38]
Chr21:47558473..47558474 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_44473990)_(47865240_?)dup duplication not provided [RCV002011965] Chr21:44473990..47865240 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.847G>A (p.Ala283Thr) single nucleotide variant Glutamate formiminotransferase deficiency [RCV001940937] Chr21:46150178 [GRCh38]
Chr21:47570092 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1293G>C (p.Glu431Asp) single nucleotide variant Glutamate formiminotransferase deficiency [RCV002051015] Chr21:46138891 [GRCh38]
Chr21:47558805 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1336C>T (p.Arg446Trp) single nucleotide variant Glutamate formiminotransferase deficiency [RCV001880707]|Inborn genetic diseases [RCV002552104] Chr21:46138615 [GRCh38]
Chr21:47558529 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1521C>G (p.Asp507Glu) single nucleotide variant Glutamate formiminotransferase deficiency [RCV001904126]|Inborn genetic diseases [RCV002545872] Chr21:46137257 [GRCh38]
Chr21:47557171 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.149C>T (p.Thr50Ile) single nucleotide variant Glutamate formiminotransferase deficiency [RCV001937748]|Inborn genetic diseases [RCV004975840]|not provided [RCV002282645] Chr21:46154238 [GRCh38]
Chr21:47574152 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.593G>A (p.Arg198His) single nucleotide variant Glutamate formiminotransferase deficiency [RCV002026924]|not provided [RCV003321894] Chr21:46151601 [GRCh38]
Chr21:47571515 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_43160998)_(47865240_?)del deletion HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV001956307] Chr21:43160998..47865240 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_206965.2(FTCD):c.1307G>A (p.Arg436His) single nucleotide variant Glutamate formiminotransferase deficiency [RCV001982326]|not provided [RCV003149009] Chr21:46138644 [GRCh38]
Chr21:47558558 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_47401765)_(47705200_?)del deletion not provided [RCV001950809] Chr21:47401765..47705200 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_206965.2(FTCD):c.1379C>T (p.Ser460Leu) single nucleotide variant Glutamate formiminotransferase deficiency [RCV001906356] Chr21:46138572 [GRCh38]
Chr21:47558486 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1098+18_1098+19insGGGCGCTGTTGGGGGGAGGGCGGGGAG microsatellite Glutamate formiminotransferase deficiency [RCV002208507] Chr21:46145799..46145800 [GRCh38]
Chr21:47565713..47565714 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.456+10C>G single nucleotide variant Glutamate formiminotransferase deficiency [RCV002166382] Chr21:46151882 [GRCh38]
Chr21:47571796 [GRCh37]
Chr21:21q22.3		 benign
NM_206965.2(FTCD):c.1099-20dup duplication Glutamate formiminotransferase deficiency [RCV002124630] Chr21:46145597..46145598 [GRCh38]
Chr21:47565511..47565512 [GRCh37]
Chr21:21q22.3		 benign
NM_206965.2(FTCD):c.321C>T (p.Cys107=) single nucleotide variant Glutamate formiminotransferase deficiency [RCV002089719] Chr21:46152953 [GRCh38]
Chr21:47572867 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.1304+16C>T single nucleotide variant Glutamate formiminotransferase deficiency [RCV002146713] Chr21:46138864 [GRCh38]
Chr21:47558778 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.239-13C>T single nucleotide variant Glutamate formiminotransferase deficiency [RCV002073662] Chr21:46153048 [GRCh38]
Chr21:47572962 [GRCh37]
Chr21:21q22.3		 benign
NM_206965.2(FTCD):c.477G>A (p.Ala159=) single nucleotide variant Glutamate formiminotransferase deficiency [RCV002127340] Chr21:46151717 [GRCh38]
Chr21:47571631 [GRCh37]
Chr21:21q22.3		 benign
NM_206965.2(FTCD):c.774+19G>A single nucleotide variant Glutamate formiminotransferase deficiency [RCV002165798] Chr21:46150369 [GRCh38]
Chr21:47570283 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.624C>T (p.Arg208=) single nucleotide variant Glutamate formiminotransferase deficiency [RCV002125863] Chr21:46151570 [GRCh38]
Chr21:47571484 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.1103C>T (p.Ala368Val) single nucleotide variant Glutamate formiminotransferase deficiency [RCV002225166] Chr21:46145574 [GRCh38]
Chr21:47565488 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.368-17G>A single nucleotide variant Glutamate formiminotransferase deficiency [RCV002145068]|not provided [RCV004714376] Chr21:46151997 [GRCh38]
Chr21:47571911 [GRCh37]
Chr21:21q22.3		 benign
NM_206965.2(FTCD):c.249C>A (p.Pro83=) single nucleotide variant Glutamate formiminotransferase deficiency [RCV002165448] Chr21:46153025 [GRCh38]
Chr21:47572939 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.1304+20C>T single nucleotide variant Glutamate formiminotransferase deficiency [RCV002095153] Chr21:46138860 [GRCh38]
Chr21:47558774 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.117C>T (p.Asp39=) single nucleotide variant FTCD-related disorder [RCV003903338]|Glutamate formiminotransferase deficiency [RCV002116852]|not provided [RCV004704727] Chr21:46154270 [GRCh38]
Chr21:47574184 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.534G>A (p.Ala178=) single nucleotide variant Glutamate formiminotransferase deficiency [RCV002094138] Chr21:46151660 [GRCh38]
Chr21:47571574 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.238+13G>A single nucleotide variant Glutamate formiminotransferase deficiency [RCV002080583] Chr21:46154136 [GRCh38]
Chr21:47574050 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.457-14G>A single nucleotide variant Glutamate formiminotransferase deficiency [RCV002132495] Chr21:46151751 [GRCh38]
Chr21:47571665 [GRCh37]
Chr21:21q22.3		 benign
NM_206965.2(FTCD):c.1007G>T (p.Gly336Val) single nucleotide variant Glutamate formiminotransferase deficiency [RCV002133000] Chr21:46145909 [GRCh38]
Chr21:47565823 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.1305-17C>T single nucleotide variant Glutamate formiminotransferase deficiency [RCV002194825] Chr21:46138663 [GRCh38]
Chr21:47558577 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.1305-15T>C single nucleotide variant Glutamate formiminotransferase deficiency [RCV002112769] Chr21:46138661 [GRCh38]
Chr21:47558575 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.1371G>A (p.Thr457=) single nucleotide variant Glutamate formiminotransferase deficiency [RCV002084985] Chr21:46138580 [GRCh38]
Chr21:47558494 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.367+16dup duplication Glutamate formiminotransferase deficiency [RCV002093828] Chr21:46152890..46152891 [GRCh38]
Chr21:47572804..47572805 [GRCh37]
Chr21:21q22.3		 benign
NM_206965.2(FTCD):c.1444-19C>G single nucleotide variant Glutamate formiminotransferase deficiency [RCV002097104] Chr21:46137353 [GRCh38]
Chr21:47557267 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.1194C>T (p.Phe398=) single nucleotide variant Glutamate formiminotransferase deficiency [RCV002101543] Chr21:46145483 [GRCh38]
Chr21:47565397 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.198C>T (p.Ala66=) single nucleotide variant Glutamate formiminotransferase deficiency [RCV002084351] Chr21:46154189 [GRCh38]
Chr21:47574103 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.138C>T (p.Arg46=) single nucleotide variant Glutamate formiminotransferase deficiency [RCV002117589] Chr21:46154249 [GRCh38]
Chr21:47574163 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.1261-8T>C single nucleotide variant Glutamate formiminotransferase deficiency [RCV002162937] Chr21:46138931 [GRCh38]
Chr21:47558845 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.1539+16G>T single nucleotide variant Glutamate formiminotransferase deficiency [RCV002101086] Chr21:46137223 [GRCh38]
Chr21:47557137 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.456+13C>T single nucleotide variant Glutamate formiminotransferase deficiency [RCV002179989] Chr21:46151879 [GRCh38]
Chr21:47571793 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.457-16G>A single nucleotide variant Glutamate formiminotransferase deficiency [RCV002138669] Chr21:46151753 [GRCh38]
Chr21:47571667 [GRCh37]
Chr21:21q22.3		 benign
NM_206965.2(FTCD):c.239-16C>T single nucleotide variant Glutamate formiminotransferase deficiency [RCV002220736] Chr21:46153051 [GRCh38]
Chr21:47572965 [GRCh37]
Chr21:21q22.3		 benign
NM_206965.2(FTCD):c.774+18C>T single nucleotide variant Glutamate formiminotransferase deficiency [RCV002122160] Chr21:46150370 [GRCh38]
Chr21:47570284 [GRCh37]
Chr21:21q22.3		 likely benign
NC_000021.8:g.(?_43160998)_(47754702_?)del deletion Developmental and epileptic encephalopathy, 30 [RCV003119312]|Progressive myoclonic epilepsy [RCV003119311] Chr21:43160998..47754702 [GRCh37]
Chr21:21q22.3		 pathogenic|uncertain significance
NM_206965.2(FTCD):c.1543C>T (p.His515Tyr) single nucleotide variant Inborn genetic diseases [RCV003253469] Chr21:46137070 [GRCh38]
Chr21:47556984 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:47533920-48084286)x1 copy number loss not provided [RCV002276432] Chr21:47533920..48084286 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_206965.2(FTCD):c.1462G>A (p.Glu488Lys) single nucleotide variant Inborn genetic diseases [RCV003256465] Chr21:46137316 [GRCh38]
Chr21:47557230 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.241G>A (p.Glu81Lys) single nucleotide variant Inborn genetic diseases [RCV003197113] Chr21:46153033 [GRCh38]
Chr21:47572947 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.*7G>A single nucleotide variant not provided [RCV003230096] Chr21:46136980 [GRCh38]
Chr21:47556894 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:47563980-48097372)x3 copy number gain not provided [RCV002475657] Chr21:47563980..48097372 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1009A>G (p.Ser337Gly) single nucleotide variant Inborn genetic diseases [RCV002727748]|not provided [RCV003992720] Chr21:46145907 [GRCh38]
Chr21:47565821 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.171C>T (p.Cys57=) single nucleotide variant FTCD-related disorder [RCV003936301]|Glutamate formiminotransferase deficiency [RCV002730542] Chr21:46154216 [GRCh38]
Chr21:47574130 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.367+6C>T single nucleotide variant Glutamate formiminotransferase deficiency [RCV002903776] Chr21:46152901 [GRCh38]
Chr21:47572815 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:46882064-47963149)x3 copy number gain not provided [RCV002475631] Chr21:46882064..47963149 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1522G>A (p.Glu508Lys) single nucleotide variant Glutamate formiminotransferase deficiency [RCV002907971] Chr21:46137256 [GRCh38]
Chr21:47557170 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1514T>C (p.Ile505Thr) single nucleotide variant Glutamate formiminotransferase deficiency [RCV002696120] Chr21:46137264 [GRCh38]
Chr21:47557178 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.290G>A (p.Arg97Lys) single nucleotide variant Inborn genetic diseases [RCV003001661] Chr21:46152984 [GRCh38]
Chr21:47572898 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.64G>A (p.Ala22Thr) single nucleotide variant Glutamate formiminotransferase deficiency [RCV003052879] Chr21:46154323 [GRCh38]
Chr21:47574237 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.368-14G>A single nucleotide variant Glutamate formiminotransferase deficiency [RCV002638138] Chr21:46151994 [GRCh38]
Chr21:47571908 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.592C>T (p.Arg198Cys) single nucleotide variant Inborn genetic diseases [RCV002844159] Chr21:46151602 [GRCh38]
Chr21:47571516 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.712C>A (p.Leu238Ile) single nucleotide variant Glutamate formiminotransferase deficiency [RCV003002350] Chr21:46150450 [GRCh38]
Chr21:47570364 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1389G>A (p.Pro463=) single nucleotide variant Glutamate formiminotransferase deficiency [RCV003077816] Chr21:46138562 [GRCh38]
Chr21:47558476 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.1465A>T (p.Met489Leu) single nucleotide variant Glutamate formiminotransferase deficiency [RCV002705981] Chr21:46137313 [GRCh38]
Chr21:47557227 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.151T>G (p.Phe51Val) single nucleotide variant Glutamate formiminotransferase deficiency [RCV002705346] Chr21:46154236 [GRCh38]
Chr21:47574150 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.60C>T (p.Ile20=) single nucleotide variant Glutamate formiminotransferase deficiency [RCV002886286] Chr21:46154327 [GRCh38]
Chr21:47574241 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_206965.2(FTCD):c.774+7C>G single nucleotide variant Glutamate formiminotransferase deficiency [RCV002597243] Chr21:46150381 [GRCh38]
Chr21:47570295 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.1078G>A (p.Ala360Thr) single nucleotide variant Glutamate formiminotransferase deficiency [RCV003058988] Chr21:46145838 [GRCh38]
Chr21:47565752 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.585A>C (p.Gln195His) single nucleotide variant Inborn genetic diseases [RCV002764878] Chr21:46151609 [GRCh38]
Chr21:47571523 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1198G>A (p.Glu400Lys) single nucleotide variant Inborn genetic diseases [RCV002665483] Chr21:46145479 [GRCh38]
Chr21:47565393 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.239-12G>A single nucleotide variant Glutamate formiminotransferase deficiency [RCV002574469] Chr21:46153047 [GRCh38]
Chr21:47572961 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.764G>A (p.Arg255Gln) single nucleotide variant Inborn genetic diseases [RCV002891425] Chr21:46150398 [GRCh38]
Chr21:47570312 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.636+5C>T single nucleotide variant Glutamate formiminotransferase deficiency [RCV002595024] Chr21:46151553 [GRCh38]
Chr21:47571467 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.361G>A (p.Val121Met) single nucleotide variant Inborn genetic diseases [RCV002696781] Chr21:46152913 [GRCh38]
Chr21:47572827 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1076T>G (p.Val359Gly) single nucleotide variant Glutamate formiminotransferase deficiency [RCV002982697] Chr21:46145840 [GRCh38]
Chr21:47565754 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.541T>G (p.Phe181Val) single nucleotide variant Inborn genetic diseases [RCV002708504] Chr21:46151653 [GRCh38]
Chr21:47571567 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1002C>G (p.Gly334=) single nucleotide variant Glutamate formiminotransferase deficiency [RCV002829218] Chr21:46145914 [GRCh38]
Chr21:47565828 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.295G>A (p.Val99Ile) single nucleotide variant Inborn genetic diseases [RCV002697434] Chr21:46152979 [GRCh38]
Chr21:47572893 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.610C>T (p.Arg204Trp) single nucleotide variant Glutamate formiminotransferase deficiency [RCV003087406] Chr21:46151584 [GRCh38]
Chr21:47571498 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.745G>A (p.Val249Ile) single nucleotide variant Inborn genetic diseases [RCV002813049] Chr21:46150417 [GRCh38]
Chr21:47570331 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.470A>T (p.Asp157Val) single nucleotide variant Inborn genetic diseases [RCV002988987] Chr21:46151724 [GRCh38]
Chr21:47571638 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.775-20C>T single nucleotide variant Glutamate formiminotransferase deficiency [RCV002629580] Chr21:46150270 [GRCh38]
Chr21:47570184 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.55-16C>T single nucleotide variant Glutamate formiminotransferase deficiency [RCV003009298] Chr21:46154348 [GRCh38]
Chr21:47574262 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.1391C>T (p.Ala464Val) single nucleotide variant Inborn genetic diseases [RCV002989566] Chr21:46138560 [GRCh38]
Chr21:47558474 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.176T>G (p.Val59Gly) single nucleotide variant Glutamate formiminotransferase deficiency [RCV003070760] Chr21:46154211 [GRCh38]
Chr21:47574125 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1252G>A (p.Ala418Thr) single nucleotide variant Glutamate formiminotransferase deficiency [RCV002633560] Chr21:46145425 [GRCh38]
Chr21:47565339 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.987C>G (p.Arg329=) single nucleotide variant Glutamate formiminotransferase deficiency [RCV003068629] Chr21:46145929 [GRCh38]
Chr21:47565843 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.661G>A (p.Gly221Ser) single nucleotide variant Glutamate formiminotransferase deficiency [RCV002584414] Chr21:46150501 [GRCh38]
Chr21:47570415 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1591C>A (p.Leu531Met) single nucleotide variant Glutamate formiminotransferase deficiency [RCV002610441] Chr21:46137022 [GRCh38]
Chr21:47556936 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1484A>T (p.Tyr495Phe) single nucleotide variant not provided [RCV003149507] Chr21:46137294 [GRCh38]
Chr21:47557208 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1498A>G (p.Ile500Val) single nucleotide variant Inborn genetic diseases [RCV003256514] Chr21:46137280 [GRCh38]
Chr21:47557194 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.308A>T (p.Glu103Val) single nucleotide variant Inborn genetic diseases [RCV003203125] Chr21:46152966 [GRCh38]
Chr21:47572880 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.322G>A (p.Ala108Thr) single nucleotide variant Glutamate formiminotransferase deficiency [RCV003502710]|Inborn genetic diseases [RCV003207302] Chr21:46152952 [GRCh38]
Chr21:47572866 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1145G>A (p.Arg382His) single nucleotide variant Inborn genetic diseases [RCV003309104] Chr21:46145532 [GRCh38]
Chr21:47565446 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.172G>T (p.Val58Leu) single nucleotide variant Inborn genetic diseases [RCV003309879] Chr21:46154215 [GRCh38]
Chr21:47574129 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.136C>T (p.Arg46Cys) single nucleotide variant Inborn genetic diseases [RCV003286693] Chr21:46154251 [GRCh38]
Chr21:47574165 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1492G>A (p.Val498Met) single nucleotide variant Inborn genetic diseases [RCV003352175] Chr21:46137286 [GRCh38]
Chr21:47557200 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.140C>G (p.Thr47Ser) single nucleotide variant Glutamate formiminotransferase deficiency [RCV003609285]|Inborn genetic diseases [RCV003347637] Chr21:46154247 [GRCh38]
Chr21:47574161 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1497C>T (p.Leu499=) single nucleotide variant Glutamate formiminotransferase deficiency [RCV003503947] Chr21:46137281 [GRCh38]
Chr21:47557195 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.471C>T (p.Asp157=) single nucleotide variant Glutamate formiminotransferase deficiency [RCV003503407] Chr21:46151723 [GRCh38]
Chr21:47571637 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.220G>A (p.Asp74Asn) single nucleotide variant Glutamate formiminotransferase deficiency [RCV003504140] Chr21:46154167 [GRCh38]
Chr21:47574081 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1098+20C>A single nucleotide variant Glutamate formiminotransferase deficiency [RCV003504232] Chr21:46145798 [GRCh38]
Chr21:47565712 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.456+14G>A single nucleotide variant Glutamate formiminotransferase deficiency [RCV003503581] Chr21:46151878 [GRCh38]
Chr21:47571792 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.1234G>A (p.Asp412Asn) single nucleotide variant Glutamate formiminotransferase deficiency [RCV003873438] Chr21:46145443 [GRCh38]
Chr21:47565357 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1287A>C (p.Thr429=) single nucleotide variant Glutamate formiminotransferase deficiency [RCV003504165] Chr21:46138897 [GRCh38]
Chr21:47558811 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q22.2-22.3(chr21:40681179-48097372)x1 copy number loss not provided [RCV003483381] Chr21:40681179..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
NM_206965.2(FTCD):c.1608G>A (p.Leu536=) single nucleotide variant Glutamate formiminotransferase deficiency [RCV003502861] Chr21:46137005 [GRCh38]
Chr21:47556919 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.1261-18T>A single nucleotide variant Glutamate formiminotransferase deficiency [RCV003503035] Chr21:46138941 [GRCh38]
Chr21:47558855 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.367+11C>T single nucleotide variant Glutamate formiminotransferase deficiency [RCV003502858] Chr21:46152896 [GRCh38]
Chr21:47572810 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.1302C>T (p.Asp434=) single nucleotide variant FTCD-related disorder [RCV004754995]|Glutamate formiminotransferase deficiency [RCV003503604] Chr21:46138882 [GRCh38]
Chr21:47558796 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.997C>T (p.Arg333Ter) single nucleotide variant FTCD-related disorder [RCV003391466] Chr21:46145919 [GRCh38]
Chr21:47565833 [GRCh37]
Chr21:21q22.3		 likely pathogenic
GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3 copy number gain not provided [RCV003485222] Chr21:33015681..48097372 [GRCh37]
Chr21:21q22.11-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43687354-48097372)x3 copy number gain not provided [RCV003485225] Chr21:43687354..48097372 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_206965.2(FTCD):c.597C>T (p.Ile199=) single nucleotide variant Glutamate formiminotransferase deficiency [RCV003609296]|not provided [RCV003431595] Chr21:46151597 [GRCh38]
Chr21:47571511 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.774+5G>T single nucleotide variant not provided [RCV003440611] Chr21:46150383 [GRCh38]
Chr21:47570297 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1563C>T (p.Leu521=) single nucleotide variant Glutamate formiminotransferase deficiency [RCV003610074] Chr21:46137050 [GRCh38]
Chr21:47556964 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.1068_1098+24del deletion Glutamate formiminotransferase deficiency [RCV003609801] Chr21:46145794..46145848 [GRCh38]
Chr21:47565708..47565762 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_206965.2(FTCD):c.654A>G (p.Lys218=) single nucleotide variant Glutamate formiminotransferase deficiency [RCV003610103] Chr21:46150508 [GRCh38]
Chr21:47570422 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.367+17del deletion Glutamate formiminotransferase deficiency [RCV003610037] Chr21:46152890 [GRCh38]
Chr21:47572804 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.372C>G (p.Tyr124Ter) single nucleotide variant Glutamate formiminotransferase deficiency [RCV003609617] Chr21:46151976 [GRCh38]
Chr21:47571890 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
NM_206965.2(FTCD):c.637-14C>T single nucleotide variant Glutamate formiminotransferase deficiency [RCV003609733] Chr21:46150539 [GRCh38]
Chr21:47570453 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.1443+17del deletion Glutamate formiminotransferase deficiency [RCV003609133] Chr21:46138491 [GRCh38]
Chr21:47558405 [GRCh37]
Chr21:21q22.3		 benign
NM_206965.2(FTCD):c.1261-1G>A single nucleotide variant Glutamate formiminotransferase deficiency [RCV003609520] Chr21:46138924 [GRCh38]
Chr21:47558838 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_206965.2(FTCD):c.774+9G>A single nucleotide variant Glutamate formiminotransferase deficiency [RCV003609690] Chr21:46150379 [GRCh38]
Chr21:47570293 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.54+14A>T single nucleotide variant Glutamate formiminotransferase deficiency [RCV003878420] Chr21:46155456 [GRCh38]
Chr21:47575370 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.1540-6C>T single nucleotide variant Glutamate formiminotransferase deficiency [RCV003610703] Chr21:46137079 [GRCh38]
Chr21:47556993 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.528G>A (p.Thr176=) single nucleotide variant Glutamate formiminotransferase deficiency [RCV003610917] Chr21:46151666 [GRCh38]
Chr21:47571580 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.1097T>C (p.Met366Thr) single nucleotide variant Glutamate formiminotransferase deficiency [RCV003610886] Chr21:46145819 [GRCh38]
Chr21:47565733 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.367+18C>G single nucleotide variant Glutamate formiminotransferase deficiency [RCV003610465] Chr21:46152889 [GRCh38]
Chr21:47572803 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.418G>C (p.Ala140Pro) single nucleotide variant Glutamate formiminotransferase deficiency [RCV003855649] Chr21:46151930 [GRCh38]
Chr21:47571844 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.54+9C>T single nucleotide variant Glutamate formiminotransferase deficiency [RCV003502172] Chr21:46155461 [GRCh38]
Chr21:47575375 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.54+10G>A single nucleotide variant Glutamate formiminotransferase deficiency [RCV003834287] Chr21:46155460 [GRCh38]
Chr21:47575374 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.1574C>T (p.Ala525Val) single nucleotide variant Glutamate formiminotransferase deficiency [RCV003816182] Chr21:46137039 [GRCh38]
Chr21:47556953 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.266A>G (p.Asp89Gly) single nucleotide variant Glutamate formiminotransferase deficiency [RCV003502051] Chr21:46153008 [GRCh38]
Chr21:47572922 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.219C>T (p.Ile73=) single nucleotide variant Glutamate formiminotransferase deficiency [RCV003502079] Chr21:46154168 [GRCh38]
Chr21:47574082 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.456+17C>T single nucleotide variant Glutamate formiminotransferase deficiency [RCV003610864] Chr21:46151875 [GRCh38]
Chr21:47571789 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.367+16C>T single nucleotide variant Glutamate formiminotransferase deficiency [RCV003610874] Chr21:46152891 [GRCh38]
Chr21:47572805 [GRCh37]
Chr21:21q22.3		 likely benign
GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3 copy number gain not specified [RCV003986149] Chr21:30685776..48097372 [GRCh37]
Chr21:21q21.3-22.3		 pathogenic
GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3 copy number gain not specified [RCV003986152] Chr21:26929299..48097372 [GRCh37]
Chr21:21q21.3-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43369956-48097372)x1 copy number loss not specified [RCV003986155] Chr21:43369956..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3 copy number gain not specified [RCV003986160] Chr21:15023401..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43603041-48097372)x1 copy number loss not specified [RCV003986150] Chr21:43603041..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:44577746-48097372)x1 copy number loss not specified [RCV003986159] Chr21:44577746..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3 copy number gain not specified [RCV003986158] Chr21:34092685..48097372 [GRCh37]
Chr21:21q22.11-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:45102309-48097372)x1 copy number loss not specified [RCV003986156] Chr21:45102309..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_206965.2(FTCD):c.1138G>A (p.Gly380Arg) single nucleotide variant Glutamate formiminotransferase deficiency [RCV003862149] Chr21:46145539 [GRCh38]
Chr21:47565453 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1 copy number loss not specified [RCV003986157] Chr21:35872675..48097372 [GRCh37]
Chr21:21q22.12-22.3		 pathogenic
NM_206965.2(FTCD):c.55-14G>T single nucleotide variant Glutamate formiminotransferase deficiency [RCV003848048] Chr21:46154346 [GRCh38]
Chr21:47574260 [GRCh37]
Chr21:21q22.3		 likely benign
GRCh37/hg19 21q22.3(chr21:45726806-48093361)x1 copy number loss not provided [RCV004442739] Chr21:45726806..48093361 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1255T>A (p.Tyr419Asn) single nucleotide variant not provided [RCV003993479] Chr21:46145422 [GRCh38]
Chr21:47565336 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.367+10C>G single nucleotide variant FTCD-related disorder [RCV003924424] Chr21:46152897 [GRCh38]
Chr21:47572811 [GRCh37]
Chr21:21q22.3		 likely benign
NC_000021.9:g.46151553del deletion FTCD-AS1-related disorder [RCV003901567] Chr21:46151550 [GRCh38]
Chr21:47571464 [GRCh37]
Chr21:21q22.3		 likely benign
NR_170989.1(FTCD-AS1):n.71A>G single nucleotide variant FTCD-AS1-related disorder [RCV003949698] Chr21:46151684 [GRCh38]
Chr21:47571598 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.*80C>G single nucleotide variant FTCD-related disorder [RCV003922114] Chr21:46136907 [GRCh38]
Chr21:47556821 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.732G>A (p.Thr244=) single nucleotide variant FTCD-related disorder [RCV003941765] Chr21:46150430 [GRCh38]
Chr21:47570344 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.1003C>G (p.Leu335Val) single nucleotide variant Inborn genetic diseases [RCV004387209] Chr21:46145913 [GRCh38]
Chr21:47565827 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.328G>A (p.Ala110Thr) single nucleotide variant Inborn genetic diseases [RCV004387214] Chr21:46152946 [GRCh38]
Chr21:47572860 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1205C>T (p.Ser402Leu) single nucleotide variant Inborn genetic diseases [RCV004387212] Chr21:46145472 [GRCh38]
Chr21:47565386 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3 copy number gain not provided [RCV004577449] Chr21:15380398..48100790 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_206965.2(FTCD):c.1067G>T (p.Gly356Val) single nucleotide variant Inborn genetic diseases [RCV004387210] Chr21:46145849 [GRCh38]
Chr21:47565763 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1091C>G (p.Ala364Gly) single nucleotide variant Inborn genetic diseases [RCV004387211] Chr21:46145825 [GRCh38]
Chr21:47565739 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1430G>A (p.Arg477Gln) single nucleotide variant Inborn genetic diseases [RCV004387213] Chr21:46138521 [GRCh38]
Chr21:47558435 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_47565311)_(47575437_?)del deletion Glutamate formiminotransferase deficiency [RCV004579315] Chr21:47565311..47575437 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_206965.2(FTCD):c.199C>T (p.Arg67Trp) single nucleotide variant Inborn genetic diseases [RCV004618773] Chr21:46154188 [GRCh38]
Chr21:47574102 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_47551848)_(47575437_?)dup duplication Bethlem myopathy 1A [RCV004579337] Chr21:47551848..47575437 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_47552332)_(47557196_?)del deletion Bethlem myopathy 1A [RCV004579341] Chr21:47552332..47557196 [GRCh37]
Chr21:21q22.3		 pathogenic
NC_000021.8:g.(?_45647421)_(47865240_?)dup duplication not provided [RCV004579369] Chr21:45647421..47865240 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_44296792)_(47865240_?)del deletion not provided [RCV004579375] Chr21:44296792..47865240 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_206965.2(FTCD):c.71C>G (p.Ser24Cys) single nucleotide variant Inborn genetic diseases [RCV004618774] Chr21:46154316 [GRCh38]
Chr21:47574230 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1370C>T (p.Thr457Met) single nucleotide variant Inborn genetic diseases [RCV004618771] Chr21:46138581 [GRCh38]
Chr21:47558495 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.967G>C (p.Glu323Gln) single nucleotide variant Inborn genetic diseases [RCV004618772] Chr21:46146267 [GRCh38]
Chr21:47566181 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.292G>A (p.Gly98Ser) single nucleotide variant Inborn genetic diseases [RCV004618775] Chr21:46152982 [GRCh38]
Chr21:47572896 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1433C>T (p.Ser478Leu) single nucleotide variant Inborn genetic diseases [RCV004618777] Chr21:46138518 [GRCh38]
Chr21:47558432 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1082C>T (p.Ala361Val) single nucleotide variant not provided [RCV004761012]   uncertain significance
NM_206965.2(FTCD):c.439G>C (p.Glu147Gln) single nucleotide variant not provided [RCV004761013]   uncertain significance
NM_206965.2(FTCD):c.360C>T (p.Asp120=) single nucleotide variant not provided [RCV004721750] Chr21:46152914 [GRCh38]
Chr21:47572828 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.262C>G (p.Leu88Val) single nucleotide variant not provided [RCV004762312]   uncertain significance
NC_000021.9:g.46136371G>A single nucleotide variant COL6A2-related disorder [RCV004727999] Chr21:46136371 [GRCh38]
Chr21:47556285 [GRCh37]
Chr21:21q22.3		 likely benign
NM_206965.2(FTCD):c.1223T>C (p.Leu408Pro) single nucleotide variant Inborn genetic diseases [RCV004980243] Chr21:46145454 [GRCh38]
Chr21:47565368 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:44822667-48097372)x3 copy number gain not provided [RCV004819659] Chr21:44822667..48097372 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1031_1061del (p.Val344fs) deletion Glutamate formiminotransferase deficiency [RCV005032725] Chr21:46145855..46145885 [GRCh38]
Chr21:47565769..47565799 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_206965.2(FTCD):c.1444-1G>A single nucleotide variant Glutamate formiminotransferase deficiency [RCV005029181] Chr21:46137335 [GRCh38]
Chr21:47557249 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_206965.2(FTCD):c.1443+1del deletion Glutamate formiminotransferase deficiency [RCV005029183] Chr21:46138507 [GRCh38]
Chr21:47558421 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_206965.2(FTCD):c.1018del (p.Leu340fs) deletion Glutamate formiminotransferase deficiency [RCV005029188] Chr21:46145898 [GRCh38]
Chr21:47565812 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_206965.2(FTCD):c.998_1002del (p.Arg333fs) deletion Glutamate formiminotransferase deficiency [RCV005029189] Chr21:46145914..46145918 [GRCh38]
Chr21:47565828..47565832 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_206965.2(FTCD):c.673dup (p.Tyr225fs) duplication Glutamate formiminotransferase deficiency [RCV005029190] Chr21:46150488..46150489 [GRCh38]
Chr21:47570402..47570403 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_206965.2(FTCD):c.598G>A (p.Ala200Thr) single nucleotide variant Inborn genetic diseases [RCV004983594] Chr21:46151596 [GRCh38]
Chr21:47571510 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.993del (p.Glu332fs) deletion Glutamate formiminotransferase deficiency [RCV005032726] Chr21:46145923 [GRCh38]
Chr21:47565837 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_206965.2(FTCD):c.299dup (p.Ser100fs) duplication Glutamate formiminotransferase deficiency [RCV005032730] Chr21:46152974..46152975 [GRCh38]
Chr21:47572888..47572889 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_206965.2(FTCD):c.54+2T>A single nucleotide variant Glutamate formiminotransferase deficiency [RCV005032731] Chr21:46155468 [GRCh38]
Chr21:47575382 [GRCh37]
Chr21:21q22.3		 likely pathogenic
GRCh37/hg19 21q22.11-22.3(chr21:34586759-48097372)x3 copy number gain not provided [RCV004819321] Chr21:34586759..48097372 [GRCh37]
Chr21:21q22.11-22.3		 pathogenic
NM_206965.2(FTCD):c.128C>T (p.Ser43Phe) single nucleotide variant not provided [RCV004820597] Chr21:46154259 [GRCh38]
Chr21:47574173 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1444-2A>C single nucleotide variant Glutamate formiminotransferase deficiency [RCV005029182] Chr21:46137336 [GRCh38]
Chr21:47557250 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_206965.2(FTCD):c.1496T>C (p.Leu499Pro) single nucleotide variant Inborn genetic diseases [RCV004980242] Chr21:46137282 [GRCh38]
Chr21:47557196 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.1304+1G>A single nucleotide variant Glutamate formiminotransferase deficiency [RCV005032722] Chr21:46138879 [GRCh38]
Chr21:47558793 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_206965.2(FTCD):c.1085_1087delinsTGGGGTCGCT (p.Ala362fs) indel Glutamate formiminotransferase deficiency [RCV005032723] Chr21:46145829..46145831 [GRCh38]
Chr21:47565743..47565745 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_206965.2(FTCD):c.1061_1062dup (p.Gly355fs) duplication Glutamate formiminotransferase deficiency [RCV005032724] Chr21:46145853..46145854 [GRCh38]
Chr21:47565767..47565768 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_206965.2(FTCD):c.939C>A (p.Cys313Ter) single nucleotide variant Glutamate formiminotransferase deficiency [RCV005032727] Chr21:46146295 [GRCh38]
Chr21:47566209 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_206965.2(FTCD):c.333del (p.Phe111fs) deletion Glutamate formiminotransferase deficiency [RCV005032728] Chr21:46152941 [GRCh38]
Chr21:47572855 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_206965.2(FTCD):c.330dup (p.Phe111fs) duplication Glutamate formiminotransferase deficiency [RCV005032729] Chr21:46152943..46152944 [GRCh38]
Chr21:47572857..47572858 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_206965.2(FTCD):c.1543del (p.His515fs) deletion Glutamate formiminotransferase deficiency [RCV005029179] Chr21:46137070 [GRCh38]
Chr21:47556984 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_206965.2(FTCD):c.460C>T (p.Gln154Ter) single nucleotide variant Glutamate formiminotransferase deficiency [RCV005029191] Chr21:46151734 [GRCh38]
Chr21:47571648 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_206965.2(FTCD):c.1522G>T (p.Glu508Ter) single nucleotide variant Glutamate formiminotransferase deficiency [RCV005029180] Chr21:46137256 [GRCh38]
Chr21:47557170 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_206965.2(FTCD):c.1081_1096del (p.Ala361fs) deletion Glutamate formiminotransferase deficiency [RCV005029185] Chr21:46145820..46145835 [GRCh38]
Chr21:47565734..47565749 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_206965.2(FTCD):c.1072_1085del (p.Ser358fs) deletion Glutamate formiminotransferase deficiency [RCV005029186] Chr21:46145831..46145844 [GRCh38]
Chr21:47565745..47565758 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_206965.2(FTCD):c.1020dup (p.Arg341fs) duplication Glutamate formiminotransferase deficiency [RCV005029187] Chr21:46145895..46145896 [GRCh38]
Chr21:47565809..47565810 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_206965.2(FTCD):c.1303dup (p.Arg435fs) duplication Glutamate formiminotransferase deficiency [RCV005029184] Chr21:46138880..46138881 [GRCh38]
Chr21:47558794..47558795 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_206965.2(FTCD):c.1388C>T (p.Pro463Leu) single nucleotide variant Inborn genetic diseases [RCV004980240] Chr21:46138563 [GRCh38]
Chr21:47558477 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.638C>T (p.Pro213Leu) single nucleotide variant Inborn genetic diseases [RCV004980241] Chr21:46150524 [GRCh38]
Chr21:47570438 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_206965.2(FTCD):c.239G>T (p.Gly80Val) single nucleotide variant Glutamate formiminotransferase deficiency [RCV004821085] Chr21:46153035 [GRCh38]
Chr21:47572949 [GRCh37]
Chr21:21q22.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4191
Count of miRNA genes:875
Interacting mature miRNAs:1074
Transcripts:ENST00000291670, ENST00000355384, ENST00000359679, ENST00000397743, ENST00000397746, ENST00000397748, ENST00000446405, ENST00000460011, ENST00000469240, ENST00000480950, ENST00000483568, ENST00000488577, ENST00000494498, ENST00000498355
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597174328GWAS1270402_Hprotein measurement QTL GWAS1270402 (human)5e-15protein measurement214613950546139506Human
597058791GWAS1154865_HBMI-adjusted waist circumference QTL GWAS1154865 (human)8e-12body size trait (VT:0100005)214613796646137967Human
597060437GWAS1156511_HBMI-adjusted waist-hip ratio QTL GWAS1156511 (human)1e-09body size trait (VT:0100005)214614922746149228Human
597089443GWAS1185517_HMastocytosis QTL GWAS1185517 (human)1e-09Mastocytosis214613863846138639Human
597279100GWAS1375174_Hformiminoglutamate measurement QTL GWAS1375174 (human)4e-13formiminoglutamate measurement214614592546145927Human
597213024GWAS1309098_Hgeographic atrophy lesion growth QTL GWAS1309098 (human)1e-08geographic atrophy lesion growth214615363646153637Human
597120954GWAS1217028_Hblood protein measurement QTL GWAS1217028 (human)2e-11blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)214613983346139834Human
597265444GWAS1361518_Hformimidoyltransferase-cyclodeaminase measurement QTL GWAS1361518 (human)2e-18formimidoyltransferase-cyclodeaminase measurement214615297346152974Human
597058792GWAS1154866_HBMI-adjusted waist circumference QTL GWAS1154866 (human)3e-10body size trait (VT:0100005)214614922746149228Human
597177334GWAS1273408_Hformimidoyltransferase-cyclodeaminase measurement QTL GWAS1273408 (human)3e-56formimidoyltransferase-cyclodeaminase measurement214615297346152974Human

Markers in Region
RH91534  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372147,556,809 - 47,556,937UniSTSGRCh37
Build 362146,381,237 - 46,381,365RGDNCBI36
Celera2132,669,143 - 32,669,271RGD
Cytogenetic Map21q22.3UniSTS
HuRef2132,937,826 - 32,937,954UniSTS
GeneMap99-GB4 RH Map21252.19UniSTS
SHGC-83008  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372147,566,752 - 47,566,959UniSTSGRCh37
Build 362146,391,180 - 46,391,387RGDNCBI36
Celera2132,679,132 - 32,679,339RGD
Cytogenetic Map21q22.3UniSTS
HuRef2132,948,792 - 32,948,999UniSTS
TNG Radiation Hybrid Map2119876.0UniSTS
SHGC-87722  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372147,556,202 - 47,556,338UniSTSGRCh37
Build 362146,380,630 - 46,380,766RGDNCBI36
Celera2132,668,536 - 32,668,672RGD
Cytogenetic Map21q22.3UniSTS
HuRef2132,937,219 - 32,937,355UniSTS
TNG Radiation Hybrid Map2119876.0UniSTS
GeneMap99-GB4 RH Map21253.3UniSTS
NCBI RH Map21407.7UniSTS
STS_CEB252  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372147,559,988 - 47,560,970UniSTSGRCh37
Build 362146,384,416 - 46,385,398RGDNCBI36
Celera2132,672,318 - 32,673,350RGD
Cytogenetic Map21q22.3UniSTS
HuRef2132,941,001 - 32,942,333UniSTS
SHGC-87730  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372147,556,716 - 47,556,841UniSTSGRCh37
Build 362146,381,144 - 46,381,269RGDNCBI36
Celera2132,669,050 - 32,669,175RGD
Cytogenetic Map21q22.3UniSTS
HuRef2132,937,733 - 32,937,858UniSTS
TNG Radiation Hybrid Map2119881.0UniSTS
GeneMap99-GB4 RH Map21256.9UniSTS
Whitehead-RH Map21238.2UniSTS
NCBI RH Map21407.7UniSTS


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
1197 2375 2765 2235 4908 1709 2288 3 622 1675 464 2230 6927 6159 49 3706 824 1706 1554 167

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_206965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006723961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_937433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA719282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC226155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF169017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF289021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF289022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF289023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF289024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL109817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC052248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI966164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM021970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U91541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000291670   ⟹   ENSP00000291670
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,136,262 - 46,155,567 (-)Ensembl
Ensembl Acc Id: ENST00000397743   ⟹   ENSP00000380851
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,136,779 - 46,155,567 (-)Ensembl
Ensembl Acc Id: ENST00000397746   ⟹   ENSP00000380854
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,136,779 - 46,155,579 (-)Ensembl
Ensembl Acc Id: ENST00000397748   ⟹   ENSP00000380856
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,136,262 - 46,155,567 (-)Ensembl
Ensembl Acc Id: ENST00000446405   ⟹   ENSP00000409015
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,136,779 - 46,138,572 (-)Ensembl
Ensembl Acc Id: ENST00000460011
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,136,267 - 46,142,741 (-)Ensembl
Ensembl Acc Id: ENST00000469240
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,145,829 - 46,146,604 (-)Ensembl
Ensembl Acc Id: ENST00000480950
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,145,828 - 46,146,926 (-)Ensembl
Ensembl Acc Id: ENST00000483568
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,136,262 - 46,137,334 (-)Ensembl
Ensembl Acc Id: ENST00000488577
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,138,530 - 46,145,573 (-)Ensembl
Ensembl Acc Id: ENST00000494498
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,136,160 - 46,142,701 (-)Ensembl
Ensembl Acc Id: ENST00000498355
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,136,262 - 46,155,567 (-)Ensembl
RefSeq Acc Id: NM_001320412   ⟹   NP_001307341
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,136,262 - 46,155,579 (-)NCBI
CHM1_12147,116,995 - 47,136,320 (-)NCBI
T2T-CHM13v2.02144,514,323 - 44,534,996 (-)NCBI
Sequence:
RefSeq Acc Id: NM_006657   ⟹   NP_006648
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,136,262 - 46,155,579 (-)NCBI
GRCh372147,556,065 - 47,575,499 (-)NCBI
Build 362146,380,604 - 46,399,909 (-)NCBI Archive
Celera2132,668,510 - 32,687,862 (-)RGD
HuRef2132,937,193 - 32,957,524 (-)RGD
CHM1_12147,116,995 - 47,136,320 (-)NCBI
T2T-CHM13v2.02144,514,323 - 44,534,996 (-)NCBI
Sequence:
RefSeq Acc Id: NM_206965   ⟹   NP_996848
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,136,779 - 46,155,579 (-)NCBI
GRCh372147,556,065 - 47,575,499 (-)NCBI
Build 362146,381,121 - 46,399,909 (-)NCBI Archive
Celera2132,668,510 - 32,687,862 (-)RGD
HuRef2132,937,193 - 32,957,524 (-)RGD
CHM1_12147,117,512 - 47,136,320 (-)NCBI
T2T-CHM13v2.02144,514,840 - 44,534,996 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001307341 (Get FASTA)   NCBI Sequence Viewer  
  NP_006648 (Get FASTA)   NCBI Sequence Viewer  
  NP_996848 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD15627 (Get FASTA)   NCBI Sequence Viewer  
  AAF15558 (Get FASTA)   NCBI Sequence Viewer  
  AAG01852 (Get FASTA)   NCBI Sequence Viewer  
  AAG01853 (Get FASTA)   NCBI Sequence Viewer  
  AAG01854 (Get FASTA)   NCBI Sequence Viewer  
  AAG01855 (Get FASTA)   NCBI Sequence Viewer  
  AAH32037 (Get FASTA)   NCBI Sequence Viewer  
  AAH52248 (Get FASTA)   NCBI Sequence Viewer  
  AAI36384 (Get FASTA)   NCBI Sequence Viewer  
  AAI36396 (Get FASTA)   NCBI Sequence Viewer  
  EAX09308 (Get FASTA)   NCBI Sequence Viewer  
  EAX09309 (Get FASTA)   NCBI Sequence Viewer  
  EAX09310 (Get FASTA)   NCBI Sequence Viewer  
  EAX09311 (Get FASTA)   NCBI Sequence Viewer  
  EAX09312 (Get FASTA)   NCBI Sequence Viewer  
  EAX09313 (Get FASTA)   NCBI Sequence Viewer  
  EAX09314 (Get FASTA)   NCBI Sequence Viewer  
  EAX09315 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000291670
  ENSP00000291670.5
  ENSP00000380851.1
  ENSP00000380854
  ENSP00000380854.3
  ENSP00000380856
  ENSP00000380856.1
  ENSP00000409015.1
  ENSP00000485804.1
  ENSP00000486740.1
  ENSP00000487110.1
  ENSP00000487475.1
  ENSP00000507070.1
  ENSP00000507847.1
GenBank Protein O95954 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_006648   ⟸   NM_006657
- Peptide Label: isoform A
- UniProtKB: Q9HCT6 (UniProtKB/Swiss-Prot),   Q9HCT5 (UniProtKB/Swiss-Prot),   Q9HCT4 (UniProtKB/Swiss-Prot),   Q86V03 (UniProtKB/Swiss-Prot),   B9EGD0 (UniProtKB/Swiss-Prot),   Q9UHJ2 (UniProtKB/Swiss-Prot),   O95954 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_996848   ⟸   NM_206965
- Peptide Label: isoform A
- UniProtKB: Q9HCT6 (UniProtKB/Swiss-Prot),   Q9HCT5 (UniProtKB/Swiss-Prot),   Q9HCT4 (UniProtKB/Swiss-Prot),   Q86V03 (UniProtKB/Swiss-Prot),   B9EGD0 (UniProtKB/Swiss-Prot),   Q9UHJ2 (UniProtKB/Swiss-Prot),   O95954 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001307341   ⟸   NM_001320412
- Peptide Label: isoform C
- Sequence:
Ensembl Acc Id: ENSP00000291670   ⟸   ENST00000291670
Ensembl Acc Id: ENSP00000409015   ⟸   ENST00000446405
Ensembl Acc Id: ENSP00000380856   ⟸   ENST00000397748
Ensembl Acc Id: ENSP00000380854   ⟸   ENST00000397746
Ensembl Acc Id: ENSP00000380851   ⟸   ENST00000397743
Protein Domains
Cyclodeaminase/cyclohydrolase   Formiminotransferase C-terminal subdomain   Formiminotransferase N-terminal subdomain

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O95954-F1-model_v2 AlphaFold O95954 1-541 view protein structure

Promoters
RGD ID:13603078
Promoter ID:EPDNEW_H27723
Type:initiation region
Name:FTCD_2
Description:formimidoyltransferase cyclodeaminase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27724  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,142,708 - 46,142,768EPDNEW
RGD ID:13603080
Promoter ID:EPDNEW_H27724
Type:multiple initiation site
Name:FTCD_1
Description:formimidoyltransferase cyclodeaminase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27723  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,155,579 - 46,155,639EPDNEW
RGD ID:6799444
Promoter ID:HG_KWN:41284
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000206969
Position:
Human AssemblyChrPosition (strand)Source
Build 362146,382,791 - 46,383,291 (-)MPROMDB
RGD ID:6799424
Promoter ID:HG_KWN:41289
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ENST00000355384,   ENST00000359679,   ENST00000397743,   ENST00000397746,   ENST00000397748,   NM_006657,   OTTHUMT00000206961,   UC010GQG.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362146,400,321 - 46,400,821 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3974 AgrOrtholog
COSMIC FTCD COSMIC
Ensembl Genes ENSG00000160282 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000281775 UniProtKB/TrEMBL
Ensembl Transcript ENST00000291670 ENTREZGENE
  ENST00000291670.9 UniProtKB/Swiss-Prot
  ENST00000397743.1 UniProtKB/TrEMBL
  ENST00000397746 ENTREZGENE
  ENST00000397746.8 UniProtKB/Swiss-Prot
  ENST00000397748 ENTREZGENE
  ENST00000397748.5 UniProtKB/Swiss-Prot
  ENST00000446405.5 UniProtKB/TrEMBL
  ENST00000460011.6 UniProtKB/TrEMBL
  ENST00000494498.2 UniProtKB/TrEMBL
  ENST00000625428.2 UniProtKB/TrEMBL
  ENST00000625714.2 UniProtKB/TrEMBL
  ENST00000625846.2 UniProtKB/TrEMBL
  ENST00000629394.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.120.680 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.70.670 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.990.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000160282 GTEx
  ENSG00000281775 GTEx
HGNC ID HGNC:3974 ENTREZGENE
Human Proteome Map FTCD Human Proteome Map
InterPro Cyclodeamin/CycHdrlase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Formiminotransferase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Formiminotransferase_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Formiminotransferase_cat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Formiminotransferase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Formiminotransferase_N_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FormiminoTrfase_cat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Formintransfe-cycloase-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FTCD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10841 UniProtKB/Swiss-Prot
NCBI Gene 10841 ENTREZGENE
OMIM 606806 OMIM
PANTHER FORMIMIDOYLTRANSFERASE-CYCLODEAMINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FORMIMINOTRANSFERASE-CYCLODEAMINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FTCD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FTCD_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FTCD_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28391 PharmGKB
RNAcentral URS00008C22A7 RNACentral
  URS000261824B RNACentral
  URS000261858E RNACentral
  URS0002618617 RNACentral
  URS000261879D RNACentral
SMART FTCD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FTCD_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF101262 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55116 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0G2JQF2_HUMAN UniProtKB/TrEMBL
  A0A804HKA5_HUMAN UniProtKB/TrEMBL
  B7WPK3_HUMAN UniProtKB/TrEMBL
  B9EGD0 ENTREZGENE
  FTCD_HUMAN UniProtKB/Swiss-Prot
  H7C315_HUMAN UniProtKB/TrEMBL
  O95954 ENTREZGENE
  Q49AR5_HUMAN UniProtKB/TrEMBL
  Q86V03 ENTREZGENE
  Q9HCT4 ENTREZGENE
  Q9HCT5 ENTREZGENE
  Q9HCT6 ENTREZGENE
  Q9UHJ2 ENTREZGENE
UniProt Secondary B9EGD0 UniProtKB/Swiss-Prot
  Q86V03 UniProtKB/Swiss-Prot
  Q9HCT4 UniProtKB/Swiss-Prot
  Q9HCT5 UniProtKB/Swiss-Prot
  Q9HCT6 UniProtKB/Swiss-Prot
  Q9UHJ2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-06-18 FTCD  formimidoyltransferase cyclodeaminase    formiminotransferase cyclodeaminase  Symbol and/or name change 5135510 APPROVED