FTCD-AS1 (FTCD antisense RNA 1) - Rat Genome Database
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Gene: FTCD-AS1 (FTCD antisense RNA 1) Homo sapiens
Analyze
Symbol: FTCD-AS1
Name: FTCD antisense RNA 1
RGD ID: 5686931
Description: ASSOCIATED WITH autistic disorder; glutamate formiminotransferase deficiency; intellectual disability
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: FTCD antisense RNA 1 (non-protein coding); uncharacterized protein LOC100861507
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2146,151,614 - 46,152,647 (+)EnsemblGRCh38hg38GRCh38
GRCh382146,151,375 - 46,152,647 (+)NCBIGRCh38GRCh38hg38GRCh38
Cytogenetic Map21q22.3NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References

Genomics

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:285
Count of miRNA genes:268
Interacting mature miRNAs:283
Transcripts:ENST00000446649
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 13 13 13 1
Low 235 87 343 265 26 265 175 119 1001 59 576 54 9 52
Below cutoff 934 785 495 149 171 123 991 724 1487 129 442 340 31 265 669 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000446649
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,151,614 - 46,152,647 (+)Ensembl
RefSeq Acc Id: NM_001350598   ⟹   NP_001337527
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,151,375 - 46,152,647 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001337527 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001337527   ⟸   NM_001350598
- Sequence:


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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(chr21:45138321-46670405)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 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(chr21:7749532-46670546)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 [RCV000053067] Chr21:7749532..46661140 [GRCh38]
Chr21:15499847..48081052 [GRCh37]
Chr21:14421718..46905480 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
NM_206965.2(FTCD):c.368-15C>T single nucleotide variant GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY [RCV000336987] Chr21:46151995 [GRCh38]
Chr21:47571909 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_206965.2(FTCD):c.430G>A (p.Gly144Arg) single nucleotide variant not provided [RCV000345236] Chr21:46151918 [GRCh38]
Chr21:47571832 [GRCh37]
Chr21:21q22.3
uncertain significance
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
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.378C>G (p.Tyr126Ter) single nucleotide variant GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY [RCV000528204] Chr21:46151970 [GRCh38]
Chr21:47571884 [GRCh37]
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
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(chr21:45877354-46543273)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(chr21:7749532-46670405)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(chr21:42232926-46670405)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 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 21q22.3(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 21q22.2-22.3(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
NM_206965.2(FTCD):c.452A>T (p.Lys151Met) single nucleotide variant GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY [RCV000326875]|not specified [RCV000405401] Chr21:46151896 [GRCh38]
Chr21:47571810 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity
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 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
NM_206965.2(FTCD):c.417G>A (p.Pro139=) single nucleotide variant not specified [RCV000081450] Chr21:46151931 [GRCh38]
Chr21:47571845 [GRCh37]
Chr21:21q22.3
benign
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 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
NM_206965.2(FTCD):c.636+9G>A single nucleotide variant not provided [RCV000876765] Chr21:46151549 [GRCh38]
Chr21:47571463 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
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
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(chr21:7749532-46653084)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
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
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(chr21:7749532-46670405)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
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 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 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(chr21:45110477-46648012)x1 copy number loss See cases [RCV000052842] Chr21:45110477..46648012 [GRCh38]
Chr21:46530392..48067924 [GRCh37]
Chr21:45354820..46892352 [NCBI36]
Chr21:21q22.3
pathogenic
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
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
NM_206965.2(FTCD):c.407G>A (p.Arg136Gln) single nucleotide variant not provided [RCV000872137] Chr21:46151941 [GRCh38]
Chr21:47571855 [GRCh37]
Chr21:21q22.3
benign|likely benign
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 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(chr21:7817158-46670440)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(chr21:42129699-46671060)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 [RCV000143376] Chr21:7749532..46677460 [GRCh38]
Chr21:15006458..48097372 [GRCh37]
Chr21:13928329..46921800 [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
NM_206965.2(FTCD):c.625G>A (p.Gly209Arg) single nucleotide variant GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY [RCV000388567] Chr21:46151569 [GRCh38]
Chr21:47571483 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_206965.2(FTCD):c.382G>A (p.Glu128Lys) single nucleotide variant GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY [RCV000395698]|Intellectual disability [RCV001251768] Chr21:46151966 [GRCh38]
Chr21:47571880 [GRCh37]
Chr21:21q22.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206965.2(FTCD):c.600G>A (p.Ala200=) single nucleotide variant GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY [RCV000330392] Chr21:46151594 [GRCh38]
Chr21:47571508 [GRCh37]
Chr21:21q22.3
uncertain significance
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
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 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 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 21q22.2-22.3(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 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(chr21:45801860-46670405)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(chr21:7749532-46670405)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 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 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 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
NM_206965.2(FTCD):c.378C>T (p.Tyr126=) single nucleotide variant GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY [RCV000281981] Chr21:46151970 [GRCh38]
Chr21:47571884 [GRCh37]
Chr21:21q22.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206965.2(FTCD):c.571G>A (p.Gly191Ser) single nucleotide variant GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY [RCV000384995] Chr21:46151623 [GRCh38]
Chr21:47571537 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_206965.2(FTCD):c.476C>T (p.Ala159Val) single nucleotide variant GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY [RCV000290636] Chr21:46151718 [GRCh38]
Chr21:47571632 [GRCh37]
Chr21:21q22.3
uncertain significance
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 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 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
Single allele duplication Autistic disorder of childhood onset [RCV000754229] Chr21:43403441..46673937 [GRCh38]
Chr21:21q22.3
likely pathogenic
NM_206965.2(FTCD):c.469G>T (p.Asp157Tyr) single nucleotide variant not provided [RCV000961235] Chr21:46151725 [GRCh38]
Chr21:47571639 [GRCh37]
Chr21:21q22.3
likely benign
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.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.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.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.379G>A (p.Gly127Ser) single nucleotide variant Intellectual disability [RCV001251766] Chr21:46151969 [GRCh38]
Chr21:47571883 [GRCh37]
Chr21:21q22.3
likely benign

Additional Information

Database Acc Id Source(s)
COSMIC FTCD-AS1 COSMIC
Ensembl Genes ENSG00000237338 Ensembl
GTEx ENSG00000237338 GTEx
HGNC ID HGNC:40243 ENTREZGENE
Human Proteome Map FTCD-AS1 Human Proteome Map
NCBI Gene FTCD-AS1 ENTREZGENE
UniGene Hs.570448 ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-08-21 FTCD-AS1  FTCD antisense RNA 1  FTCD-AS1  FTCD antisense RNA 1 (non-protein coding)  Symbol and/or name change 5135510 APPROVED

 



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