C12orf57 (chromosome 12 open reading frame 57) - Rat Genome Database

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Gene: C12orf57 (chromosome 12 open reading frame 57) Homo sapiens
Analyze
Symbol: C12orf57
Name: chromosome 12 open reading frame 57
RGD ID: 1606749
HGNC Page HGNC:29521
Description: Involved in several processes, including brain development; camera-type eye morphogenesis; and psychomotor behavior. Located in cytoplasm and nuclear speck. Implicated in Temtamy syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C10; FLJ17308; gene rich cluster C10; GRCC10; likely ortholog of mouse gene rich cluster, C10; TEMTYS
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
GRCh38126,943,433 - 6,946,003 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl126,942,978 - 6,946,003 (+)EnsemblGRCh38hg38GRCh38
GRCh37127,052,596 - 7,055,166 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36126,923,464 - 6,925,426 (+)NCBINCBI36Build 36hg18NCBI36
Celera128,671,824 - 8,673,786 (+)NCBICelera
Cytogenetic Map12p13.31NCBI
HuRef126,909,305 - 6,911,269 (+)NCBIHuRef
CHM1_1127,052,190 - 7,054,152 (+)NCBICHM1_1
T2T-CHM13v2.0126,954,599 - 6,957,169 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IDA,IEA)
nuclear speck  (IDA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8889548   PMID:9074930   PMID:9224939   PMID:9445485   PMID:12477932   PMID:15342556   PMID:15489334   PMID:16341674   PMID:16712791   PMID:19204726   PMID:21873635   PMID:22939629  
PMID:23453665   PMID:23453666   PMID:23633300   PMID:24798461   PMID:26186194   PMID:26344197   PMID:26760575   PMID:26972000   PMID:28514442   PMID:29117863   PMID:29383837   PMID:29509190  
PMID:30344098   PMID:30884312   PMID:31527615   PMID:32203420   PMID:32296183   PMID:33961781   PMID:34315543   PMID:35271311   PMID:35384245   PMID:37451886  


Genomics

Comparative Map Data
C12orf57
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38126,943,433 - 6,946,003 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl126,942,978 - 6,946,003 (+)EnsemblGRCh38hg38GRCh38
GRCh37127,052,596 - 7,055,166 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36126,923,464 - 6,925,426 (+)NCBINCBI36Build 36hg18NCBI36
Celera128,671,824 - 8,673,786 (+)NCBICelera
Cytogenetic Map12p13.31NCBI
HuRef126,909,305 - 6,911,269 (+)NCBIHuRef
CHM1_1127,052,190 - 7,054,152 (+)NCBICHM1_1
T2T-CHM13v2.0126,954,599 - 6,957,169 (+)NCBIT2T-CHM13v2.0
Grcc10
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396124,716,146 - 124,718,032 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl6124,716,146 - 124,718,337 (-)EnsemblGRCm39 Ensembl
GRCm386124,739,183 - 124,741,069 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6124,739,183 - 124,741,374 (-)EnsemblGRCm38mm10GRCm38
MGSCv376124,689,201 - 124,691,097 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv366124,704,802 - 124,706,698 (-)NCBIMGSCv36mm8
Celera6126,420,916 - 126,422,811 (-)NCBICelera
Cytogenetic Map6F2NCBI
cM Map659.17NCBI
Grcc10
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84159,237,562 - 159,239,223 (-)NCBIGRCr8
mRatBN7.24157,551,276 - 157,552,924 (-)NCBImRatBN7.2mRatBN7.2
UTH_Rnor_SHR_Utx4163,773,493 - 163,775,128 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04159,556,399 - 159,558,034 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04158,197,983 - 158,199,618 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04157,264,383 - 157,266,042 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4157,264,383 - 157,266,018 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 Ensembl920,279,938 - 20,281,195 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04224,281,979 - 224,283,628 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44160,869,349 - 160,870,984 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera4146,289,542 - 146,291,177 (-)NCBICelera
Cytogenetic Map4q42NCBI
LOC102009926
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554134,524,236 - 4,525,760 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554134,524,236 - 4,525,760 (+)NCBIChiLan1.0ChiLan1.0
C10H12orf57
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21012,506,164 - 12,509,674 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11212,504,151 - 12,506,433 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0127,073,251 - 7,075,408 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1126,987,964 - 6,990,580 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl126,978,576 - 6,990,580 (+)Ensemblpanpan1.1panPan2
C27H12orf57
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12738,101,705 - 38,103,553 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2738,101,786 - 38,127,910 (-)NCBICanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2738,101,786 - 38,127,910 (-)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.02738,454,300 - 38,456,072 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2738,454,384 - 38,480,448 (-)EnsemblROS_Cfam_1.0 Ensembl
CUNH12orf57
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945102,217,192 - 102,219,310 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936709884,741 - 886,895 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936709884,741 - 886,617 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
C5H12orf57
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl563,779,513 - 63,781,517 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1563,779,510 - 63,781,307 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2566,216,267 - 66,218,064 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CUNH12orf57
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1116,974,741 - 6,976,922 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl116,974,953 - 6,976,921 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660631,240,813 - 1,243,407 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
CUNH12orf57
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248603,578,336 - 3,580,059 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248603,578,147 - 3,580,059 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in C12orf57
224 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_138425.4(C12orf57):c.20A>G (p.Gln7Arg) single nucleotide variant not provided [RCV000522497] Chr12:6944141 [GRCh38]
Chr12:7053304 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.334C>T (p.Leu112=) single nucleotide variant Temtamy syndrome [RCV000544934] Chr12:6945875 [GRCh38]
Chr12:7055038 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.196A>T (p.Ile66Phe) single nucleotide variant not provided [RCV000727934] Chr12:6944619 [GRCh38]
Chr12:7053782 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.229+25_229+43del microsatellite Temtamy syndrome [RCV000555858]|not provided [RCV001683567]|not specified [RCV000202923] Chr12:6944655..6944673 [GRCh38]
Chr12:7053818..7053836 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_138425.4(C12orf57):c.1A>G (p.Met1Val) single nucleotide variant Global developmental delay [RCV000162118]|Temtamy syndrome [RCV000034852]|not provided [RCV000254835] Chr12:6944122 [GRCh38]
Chr12:7053285 [GRCh37]
Chr12:12p13.31		 pathogenic|likely pathogenic
NM_138425.4(C12orf57):c.152T>A (p.Leu51Gln) single nucleotide variant Temtamy syndrome [RCV000034853] Chr12:6944575 [GRCh38]
Chr12:7053738 [GRCh37]
Chr12:12p13.31		 pathogenic
GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1 copy number loss See cases [RCV000052776] Chr12:121055..28415184 [GRCh38]
Chr12:282465..28568117 [GRCh37]
Chr12:100482..28459384 [NCBI36]
Chr12:12p13.33-11.22		 pathogenic
GRCh38/hg38 12p13.31(chr12:6728665-7705620)x1 copy number loss See cases [RCV000052779] Chr12:6728665..7705620 [GRCh38]
Chr12:6837831..7858216 [GRCh37]
Chr12:6708092..7749483 [NCBI36]
Chr12:12p13.31		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 copy number gain See cases [RCV000053660] Chr12:77187..34380176 [GRCh38]
Chr12:282465..34533111 [GRCh37]
Chr12:56614..34424378 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3 copy number gain See cases [RCV000053662] Chr12:80412..25470329 [GRCh38]
Chr12:282465..25623263 [GRCh37]
Chr12:59839..25514530 [NCBI36]
Chr12:12p13.33-12.1		 pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:121055-7272606)x3 copy number gain See cases [RCV000053663] Chr12:121055..7272606 [GRCh38]
Chr12:282465..7425202 [GRCh37]
Chr12:100482..7316469 [NCBI36]
Chr12:12p13.33-13.31		 pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:121255-8361746)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]|See cases [RCV000053664] Chr12:121255..8361746 [GRCh38]
Chr12:282465..8514342 [GRCh37]
Chr12:100682..8405609 [NCBI36]
Chr12:12p13.33-13.31		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4 copy number gain See cases [RCV000053666] Chr12:212976..33926913 [GRCh38]
Chr12:322142..34079848 [GRCh37]
Chr12:192403..33971115 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
NM_001007026.1(ATN1):c.3215-1G>T single nucleotide variant Malignant melanoma [RCV000062591] Chr12:6940879 [GRCh38]
Chr12:7050042 [GRCh37]
Chr12:6920303 [NCBI36]
Chr12:12p13.31		 not provided
NM_138425.4(C12orf57):c.184C>T (p.Gln62Ter) single nucleotide variant Temtamy syndrome [RCV000143978]|not provided [RCV000414658] Chr12:6944607 [GRCh38]
Chr12:7053770 [GRCh37]
Chr12:12p13.31		 pathogenic|likely pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3 copy number gain See cases [RCV000135350] Chr12:45740..6945196 [GRCh38]
Chr12:147099..7054359 [GRCh37]
Chr12:17360..6924620 [NCBI36]
Chr12:12p13.33-13.31		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3 copy number gain See cases [RCV000136611] Chr12:121255..34603274 [GRCh38]
Chr12:282465..34756209 [GRCh37]
Chr12:100682..34647476 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3 copy number gain See cases [RCV000137694] Chr12:2871741..14987348 [GRCh38]
Chr12:2980907..15140282 [GRCh37]
Chr12:2851168..15031549 [NCBI36]
Chr12:12p13.33-12.3		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3 copy number gain See cases [RCV000139052] Chr12:121271..34603261 [GRCh38]
Chr12:282465..34756196 [GRCh37]
Chr12:100698..34647463 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4 copy number gain See cases [RCV000139787] Chr12:54427..34608071 [GRCh38]
Chr12:282465..34761006 [GRCh37]
Chr12:33854..34652273 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3 copy number gain See cases [RCV000141905] Chr12:1258274..20657577 [GRCh38]
Chr12:1367440..20810511 [GRCh37]
Chr12:1237701..20701778 [NCBI36]
Chr12:12p13.33-12.2		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4 copy number gain See cases [RCV000142149] Chr12:64620..34682902 [GRCh38]
Chr12:173786..34835837 [GRCh37]
Chr12:44047..34727104 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
NM_138425.3(C12orf57):c.229+3_229+21del19 deletion not specified [RCV000202923] Chr12:6944655..6944673 [GRCh38]
Chr12:7053818..7053836 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.91G>C (p.Glu31Gln) single nucleotide variant not specified [RCV000193482] Chr12:6944514 [GRCh38]
Chr12:7053677 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.257A>G (p.Lys86Arg) single nucleotide variant Temtamy syndrome [RCV000532469]|not specified [RCV000193738] Chr12:6945798 [GRCh38]
Chr12:7054961 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.136_138del (p.Asp46del) deletion Temtamy syndrome [RCV000543431]|not specified [RCV000194274] Chr12:6944557..6944559 [GRCh38]
Chr12:7053720..7053722 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.52+26_52+54del deletion Temtamy syndrome [RCV002229016]|not specified [RCV000194765] Chr12:6944187..6944215 [GRCh38]
Chr12:7053350..7053378 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_138425.4(C12orf57):c.240G>A (p.Lys80=) single nucleotide variant Temtamy syndrome [RCV001516657]|not specified [RCV000192338] Chr12:6945781 [GRCh38]
Chr12:7054944 [GRCh37]
Chr12:12p13.31		 benign|uncertain significance
NM_138425.4(C12orf57):c.86C>T (p.Ala29Val) single nucleotide variant C12orf57-related disorder [RCV003927767]|Temtamy syndrome [RCV000545285]|not provided [RCV001788063]|not specified [RCV000192454] Chr12:6944509 [GRCh38]
Chr12:7053672 [GRCh37]
Chr12:12p13.31		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4 copy number gain See cases [RCV000240164] Chr12:148034..34178799 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3 copy number gain See cases [RCV000240487] Chr12:89061..34178799 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_138425.4(C12orf57):c.229+2T>C single nucleotide variant Temtamy syndrome [RCV001340715] Chr12:6944654 [GRCh38]
Chr12:7053817 [GRCh37]
Chr12:12p13.31		 uncertain significance
NC_000012.12:g.(1_3750000)_(5250000_9000000)del deletion Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000758697] Chr12:3750000..5250000 [GRCh38]
Chr12:12p13.33-13.31		 pathogenic|not provided
NM_138425.4(C12orf57):c.230-17T>C single nucleotide variant Temtamy syndrome [RCV002236608] Chr12:6945754 [GRCh38]
Chr12:7054917 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.230-9del deletion Temtamy syndrome [RCV002236609] Chr12:6945760 [GRCh38]
Chr12:7054923 [GRCh37]
Chr12:12p13.31		 likely benign
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3 copy number gain See cases [RCV000449191] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)x3 copy number gain See cases [RCV000449287] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain See cases [RCV000447551] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-12.2(chr12:173786-20026080)x3 copy number gain See cases [RCV000446050] Chr12:173786..20026080 [GRCh37]
Chr12:12p13.33-12.2		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-8257049)x3 copy number gain See cases [RCV000446749] Chr12:173786..8257049 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150) copy number gain See cases [RCV000446017] Chr12:189578..34756150 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_138425.4(C12orf57):c.30C>T (p.Ala10=) single nucleotide variant Temtamy syndrome [RCV000642300]|not specified [RCV000501286] Chr12:6944151 [GRCh38]
Chr12:7053314 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_138425.4(C12orf57):c.-5G>A single nucleotide variant not specified [RCV000503972] Chr12:6944117 [GRCh38]
Chr12:7053280 [GRCh37]
Chr12:12p13.31		 uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3 copy number gain See cases [RCV000511580] Chr12:565369..34835837 [GRCh37]
Chr12:12p13.33-11.1		 likely pathogenic
NM_138425.4(C12orf57):c.53-2A>G single nucleotide variant Global developmental delay [RCV000491421]|Temtamy syndrome [RCV000985183] Chr12:6944474 [GRCh38]
Chr12:7053637 [GRCh37]
Chr12:12p13.31		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NM_138425.4(C12orf57):c.37G>A (p.Ala13Thr) single nucleotide variant Temtamy syndrome [RCV000698018] Chr12:6944158 [GRCh38]
Chr12:7053321 [GRCh37]
Chr12:12p13.31		 uncertain significance
GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3 copy number gain See cases [RCV000510853] Chr12:173786..11677456 [GRCh37]
Chr12:12p13.33-13.2		 pathogenic
GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3 copy number gain See cases [RCV000510961] Chr12:173786..28219229 [GRCh37]
Chr12:12p13.33-11.22		 pathogenic
NM_138425.4(C12orf57):c.333C>T (p.Thr111=) single nucleotide variant Temtamy syndrome [RCV000642299] Chr12:6945874 [GRCh38]
Chr12:7055037 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.62C>T (p.Ala21Val) single nucleotide variant Inborn genetic diseases [RCV002526146]|Temtamy syndrome [RCV000537918]|not provided [RCV001788283] Chr12:6944485 [GRCh38]
Chr12:7053648 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.53-3C>T single nucleotide variant Temtamy syndrome [RCV000557321] Chr12:6944473 [GRCh38]
Chr12:7053636 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_138425.4(C12orf57):c.53-1G>A single nucleotide variant Temtamy syndrome [RCV000642298] Chr12:6944475 [GRCh38]
Chr12:7053638 [GRCh37]
Chr12:12p13.31		 likely pathogenic
NM_138425.4(C12orf57):c.310G>A (p.Ala104Thr) single nucleotide variant Temtamy syndrome [RCV000642297] Chr12:6945851 [GRCh38]
Chr12:7055014 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.297A>G (p.Ser99=) single nucleotide variant Temtamy syndrome [RCV000642302] Chr12:6945838 [GRCh38]
Chr12:7055001 [GRCh37]
Chr12:12p13.31		 benign
NM_138425.4(C12orf57):c.138C>T (p.Asp46=) single nucleotide variant Temtamy syndrome [RCV000642301] Chr12:6944561 [GRCh38]
Chr12:7053724 [GRCh37]
Chr12:12p13.31		 likely benign
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3 copy number gain not provided [RCV000683478] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain not provided [RCV000683479] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3 copy number gain not provided [RCV000683480] Chr12:173786..37869107 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:191242-8122785)x3 copy number gain not provided [RCV000683477] Chr12:191242..8122785 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
NM_138425.4(C12orf57):c.88C>G (p.Pro30Ala) single nucleotide variant Temtamy syndrome [RCV000702534] Chr12:6944511 [GRCh38]
Chr12:7053674 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.28G>C (p.Ala10Pro) single nucleotide variant Temtamy syndrome [RCV000707237] Chr12:6944149 [GRCh38]
Chr12:7053312 [GRCh37]
Chr12:12p13.31		 uncertain significance
NC_000012.11:g.(?_7053265)_(7055105_?)del deletion Temtamy syndrome [RCV000707948] Chr12:7053265..7055105 [GRCh37]
Chr12:12p13.31		 pathogenic
NM_138425.4(C12orf57):c.109G>A (p.Asp37Asn) single nucleotide variant Temtamy syndrome [RCV000697260] Chr12:6944532 [GRCh38]
Chr12:7053695 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.46G>A (p.Ala16Thr) single nucleotide variant Temtamy syndrome [RCV000692810] Chr12:6944167 [GRCh38]
Chr12:7053330 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.56T>C (p.Val19Ala) single nucleotide variant Temtamy syndrome [RCV000693134] Chr12:6944479 [GRCh38]
Chr12:7053642 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.127G>T (p.Ala43Ser) single nucleotide variant Temtamy syndrome [RCV000704871]|not provided [RCV000994834] Chr12:6944550 [GRCh38]
Chr12:7053713 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.32T>G (p.Leu11Trp) single nucleotide variant Temtamy syndrome [RCV000693929] Chr12:6944153 [GRCh38]
Chr12:7053316 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.3(C12orf57):c.-187G>C single nucleotide variant not provided [RCV001732375] Chr12:6943935 [GRCh38]
Chr12:7053098 [GRCh37]
Chr12:12p13.31		 likely benign
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3 copy number gain not provided [RCV000750245] Chr12:191619..31733044 [GRCh37]
Chr12:12p13.33-11.21		 pathogenic
GRCh37/hg19 12p13.31(chr12:6911437-9381254)x3 copy number gain not provided [RCV000750277] Chr12:6911437..9381254 [GRCh37]
Chr12:12p13.31		 uncertain significance
NC_000012.12:g.6946217G>A single nucleotide variant not provided [RCV001724619] Chr12:6946217 [GRCh38]
Chr12:7055380 [GRCh37]
Chr12:12p13.31		 benign
NM_138425.4(C12orf57):c.43C>T (p.Gln15Ter) single nucleotide variant Temtamy syndrome [RCV001067030]|not provided [RCV000760547] Chr12:6944164 [GRCh38]
Chr12:7053327 [GRCh37]
Chr12:12p13.31		 pathogenic|likely pathogenic
NM_138425.4(C12orf57):c.174del (p.Thr59fs) deletion not provided [RCV000994835] Chr12:6944596 [GRCh38]
Chr12:7053759 [GRCh37]
Chr12:12p13.31		 likely pathogenic
NM_138425.4(C12orf57):c.247C>T (p.Arg83Cys) single nucleotide variant Temtamy syndrome [RCV001045047] Chr12:6945788 [GRCh38]
Chr12:7054951 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.3(C12orf57):c.-189T>C single nucleotide variant not provided [RCV001679532] Chr12:6943933 [GRCh38]
Chr12:7053096 [GRCh37]
Chr12:12p13.31		 benign
NM_138425.4(C12orf57):c.12C>T (p.Ala4=) single nucleotide variant C12orf57-related disorder [RCV003910805]|Temtamy syndrome [RCV000904618] Chr12:6944133 [GRCh38]
Chr12:7053296 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.12C>G (p.Ala4=) single nucleotide variant C12orf57-related disorder [RCV003895621]|Temtamy syndrome [RCV001424770]|not provided [RCV004584827] Chr12:6944133 [GRCh38]
Chr12:7053296 [GRCh37]
Chr12:12p13.31		 likely benign
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4 copy number gain not provided [RCV001006470] Chr12:274676..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
NM_138425.4(C12orf57):c.193G>C (p.Val65Leu) single nucleotide variant Temtamy syndrome [RCV001061755] Chr12:6944616 [GRCh38]
Chr12:7053779 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.52G>A (p.Val18Met) single nucleotide variant Temtamy syndrome [RCV001056805] Chr12:6944173 [GRCh38]
Chr12:7053336 [GRCh37]
Chr12:12p13.31		 uncertain significance
NC_000012.11:g.(?_6438458)_(7362839_?)dup duplication Peroxisome biogenesis disorder 2B [RCV001031288] Chr12:6438458..7362839 [GRCh37]
Chr12:12p13.31		 uncertain significance
GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420) copy number gain not provided [RCV000767817] Chr12:189216..15001420 [GRCh37]
Chr12:12p13.33-12.3		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292) copy number gain not provided [RCV000767818] Chr12:237588..8278292 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497) copy number gain not provided [RCV000767819] Chr12:189216..8185497 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
NM_138425.4(C12orf57):c.52+1G>T single nucleotide variant Temtamy syndrome [RCV000819515] Chr12:6944174 [GRCh38]
Chr12:7053337 [GRCh37]
Chr12:12p13.31		 likely pathogenic
NM_138425.4(C12orf57):c.363C>T (p.Gly121=) single nucleotide variant Temtamy syndrome [RCV000977021] Chr12:6945904 [GRCh38]
Chr12:7055067 [GRCh37]
Chr12:12p13.31		 likely benign|conflicting interpretations of pathogenicity
NM_138425.4(C12orf57):c.42G>A (p.Glu14=) single nucleotide variant Temtamy syndrome [RCV000951625] Chr12:6944163 [GRCh38]
Chr12:7053326 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.263A>G (p.Tyr88Cys) single nucleotide variant Intellectual disability [RCV001251703]|Temtamy syndrome [RCV000793744]|not provided [RCV002462141] Chr12:6945804 [GRCh38]
Chr12:7054967 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NC_000012.11:g.(?_6945914)_(9027627_?)dup duplication Temtamy syndrome [RCV000816630] Chr12:6945914..9027627 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.10G>A (p.Ala4Thr) single nucleotide variant Temtamy syndrome [RCV000817815] Chr12:6944131 [GRCh38]
Chr12:7053294 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.328A>G (p.Met110Val) single nucleotide variant Temtamy syndrome [RCV000801812] Chr12:6945869 [GRCh38]
Chr12:7055032 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.161_162del (p.Val54fs) deletion Temtamy syndrome [RCV000820558] Chr12:6944583..6944584 [GRCh38]
Chr12:7053746..7053747 [GRCh37]
Chr12:12p13.31		 pathogenic
NM_138425.4(C12orf57):c.272A>G (p.Gln91Arg) single nucleotide variant Temtamy syndrome [RCV000820613] Chr12:6945813 [GRCh38]
Chr12:7054976 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.62C>G (p.Ala21Gly) single nucleotide variant Temtamy syndrome [RCV000815774] Chr12:6944485 [GRCh38]
Chr12:7053648 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.311C>T (p.Ala104Val) single nucleotide variant Temtamy syndrome [RCV000823903] Chr12:6945852 [GRCh38]
Chr12:7055015 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.169G>A (p.Val57Met) single nucleotide variant Temtamy syndrome [RCV000821556] Chr12:6944592 [GRCh38]
Chr12:7053755 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.192G>C (p.Glu64Asp) single nucleotide variant Temtamy syndrome [RCV000818522] Chr12:6944615 [GRCh38]
Chr12:7053778 [GRCh37]
Chr12:12p13.31		 uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3 copy number gain not provided [RCV000846343] Chr12:173786..8393815 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3 copy number gain not provided [RCV000847209] Chr12:173786..34496628 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_138425.4(C12orf57):c.36C>T (p.Ser12=) single nucleotide variant Temtamy syndrome [RCV002236593] Chr12:6944157 [GRCh38]
Chr12:7053320 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.52+18C>G single nucleotide variant Temtamy syndrome [RCV002236598] Chr12:6944191 [GRCh38]
Chr12:7053354 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.72C>G (p.Ile24Met) single nucleotide variant Temtamy syndrome [RCV002236603] Chr12:6944495 [GRCh38]
Chr12:7053658 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.145A>G (p.Lys49Glu) single nucleotide variant Temtamy syndrome [RCV001202069] Chr12:6944568 [GRCh38]
Chr12:7053731 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.200A>G (p.Lys67Arg) single nucleotide variant Temtamy syndrome [RCV001206736] Chr12:6944623 [GRCh38]
Chr12:7053786 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.61G>A (p.Ala21Thr) single nucleotide variant Temtamy syndrome [RCV001214690] Chr12:6944484 [GRCh38]
Chr12:7053647 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.344A>G (p.His115Arg) single nucleotide variant Temtamy syndrome [RCV001245937] Chr12:6945885 [GRCh38]
Chr12:7055048 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.206A>G (p.Tyr69Cys) single nucleotide variant Temtamy syndrome [RCV001214833] Chr12:6944629 [GRCh38]
Chr12:7053792 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.17C>G (p.Thr6Ser) single nucleotide variant Temtamy syndrome [RCV001068828] Chr12:6944138 [GRCh38]
Chr12:7053301 [GRCh37]
Chr12:12p13.31		 uncertain significance
NC_000012.11:g.(?_4368352)_(9027607_?)dup duplication Lymphoproliferative syndrome 2 [RCV003105682] Chr12:4368352..9027607 [GRCh37]
Chr12:12p13.32-13.31		 uncertain significance
NR_023317.1(RNU7-1):n.28C>T single nucleotide variant Aicardi-Goutieres syndrome 9 [RCV001568344]|not provided [RCV003223725] Chr12:6943843 [GRCh38]
Chr12:7053006 [GRCh37]
Chr12:12p13.31		 pathogenic|likely pathogenic
NM_138425.3(C12orf57):c.-272G>A single nucleotide variant Aicardi-Goutieres syndrome 9 [RCV001568348] Chr12:6943850 [GRCh38]
Chr12:7053013 [GRCh37]
Chr12:12p13.31		 pathogenic
NM_138425.4(C12orf57):c.-70T>G single nucleotide variant not provided [RCV001645651] Chr12:6944052 [GRCh38]
Chr12:7053215 [GRCh37]
Chr12:12p13.31		 benign
NM_138425.3(C12orf57):c.-200A>G single nucleotide variant not provided [RCV001682199]|not specified [RCV003487683] Chr12:6943922 [GRCh38]
Chr12:7053085 [GRCh37]
Chr12:12p13.31		 benign
NM_138425.3(C12orf57):c.-256C>T single nucleotide variant Aicardi-Goutieres syndrome 9 [RCV001568346]|not provided [RCV001732209] Chr12:6943866 [GRCh38]
Chr12:7053029 [GRCh37]
Chr12:12p13.31		 pathogenic|benign|likely benign
NM_138425.4(C12orf57):c.9C>T (p.Ser3=) single nucleotide variant Temtamy syndrome [RCV000952150]|not provided [RCV002051905] Chr12:6944130 [GRCh38]
Chr12:7053293 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.312G>A (p.Ala104=) single nucleotide variant Temtamy syndrome [RCV000928681] Chr12:6945853 [GRCh38]
Chr12:7055016 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.27G>A (p.Ala9=) single nucleotide variant Temtamy syndrome [RCV000882923] Chr12:6944148 [GRCh38]
Chr12:7053311 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.13T>G (p.Ser5Ala) single nucleotide variant Temtamy syndrome [RCV001207382] Chr12:6944134 [GRCh38]
Chr12:7053297 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.215_216delinsTT (p.Ser72Ile) indel Temtamy syndrome [RCV001236169] Chr12:6944638..6944639 [GRCh38]
Chr12:7053801..7053802 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.322C>T (p.Pro108Ser) single nucleotide variant Temtamy syndrome [RCV001226637] Chr12:6945863 [GRCh38]
Chr12:7055026 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.224G>C (p.Gly75Ala) single nucleotide variant Temtamy syndrome [RCV001203044] Chr12:6944647 [GRCh38]
Chr12:7053810 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.29C>T (p.Ala10Val) single nucleotide variant Temtamy syndrome [RCV001240886] Chr12:6944150 [GRCh38]
Chr12:7053313 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.105C>T (p.Arg35=) single nucleotide variant not provided [RCV000912383] Chr12:6944528 [GRCh38]
Chr12:7053691 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.3(C12orf57):c.-259T>C single nucleotide variant not provided [RCV001620746] Chr12:6943863 [GRCh38]
Chr12:7053026 [GRCh37]
Chr12:12p13.31		 benign
NM_138425.4(C12orf57):c.182del (p.Ile61fs) deletion Temtamy syndrome [RCV000988779] Chr12:6944605 [GRCh38]
Chr12:7053768 [GRCh37]
Chr12:12p13.31		 pathogenic
NM_138425.4(C12orf57):c.229+93C>T single nucleotide variant not provided [RCV001676928] Chr12:6944745 [GRCh38]
Chr12:7053908 [GRCh37]
Chr12:12p13.31		 benign
NM_138425.3(C12orf57):c.-164G>A single nucleotide variant not provided [RCV001636518] Chr12:6943958 [GRCh38]
Chr12:7053121 [GRCh37]
Chr12:12p13.31		 benign
NM_138425.4(C12orf57):c.52+26A>G single nucleotide variant Temtamy syndrome [RCV001554499]|not provided [RCV001709740] Chr12:6944199 [GRCh38]
Chr12:7053362 [GRCh37]
Chr12:12p13.31		 benign
NC_000012.11:g.(?_6945914)_(8248706_?)dup duplication Temtamy syndrome [RCV001031096] Chr12:6945914..8248706 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.229+145C>T single nucleotide variant not provided [RCV001714809] Chr12:6944797 [GRCh38]
Chr12:7053960 [GRCh37]
Chr12:12p13.31		 benign
NM_138425.4(C12orf57):c.202G>A (p.Ala68Thr) single nucleotide variant Temtamy syndrome [RCV001069254] Chr12:6944625 [GRCh38]
Chr12:7053788 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.44A>G (p.Gln15Arg) single nucleotide variant Temtamy syndrome [RCV001069491] Chr12:6944165 [GRCh38]
Chr12:7053328 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_001301834.1(C12orf57):c.-16+149C>T single nucleotide variant not provided [RCV001670613] Chr12:6943811 [GRCh38]
Chr12:7052974 [GRCh37]
Chr12:12p13.31		 benign
NM_138425.4(C12orf57):c.230-75G>A single nucleotide variant Temtamy syndrome [RCV001554500]|not provided [RCV001538466] Chr12:6945696 [GRCh38]
Chr12:7054859 [GRCh37]
Chr12:12p13.31		 benign
NM_138425.3(C12orf57):c.-266T>G single nucleotide variant Aicardi-Goutieres syndrome 9 [RCV001568347] Chr12:6943856 [GRCh38]
Chr12:7053019 [GRCh37]
Chr12:12p13.31		 pathogenic
NM_138425.3(C12orf57):c.-136A>C single nucleotide variant not provided [RCV001610833] Chr12:6943986 [GRCh38]
Chr12:7053149 [GRCh37]
Chr12:12p13.31		 benign
NM_138425.4(C12orf57):c.53_54del deletion Temtamy syndrome [RCV001648519] Chr12:6944475..6944476 [GRCh38]
Chr12:7053638..7053639 [GRCh37]
Chr12:12p13.31		 pathogenic
NM_138425.4(C12orf57):c.291C>G (p.Ser97Arg) single nucleotide variant Temtamy syndrome [RCV001211548] Chr12:6945832 [GRCh38]
Chr12:7054995 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.206A>T (p.Tyr69Phe) single nucleotide variant Temtamy syndrome [RCV001215952] Chr12:6944629 [GRCh38]
Chr12:7053792 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.99A>G (p.Ala33=) single nucleotide variant Temtamy syndrome [RCV001038790] Chr12:6944522 [GRCh38]
Chr12:7053685 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_138425.4(C12orf57):c.228A>C (p.Glu76Asp) single nucleotide variant Temtamy syndrome [RCV001036659] Chr12:6944651 [GRCh38]
Chr12:7053814 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.26C>T (p.Ala9Val) single nucleotide variant Temtamy syndrome [RCV001202326] Chr12:6944147 [GRCh38]
Chr12:7053310 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.356C>T (p.Ala119Val) single nucleotide variant Temtamy syndrome [RCV001037752] Chr12:6945897 [GRCh38]
Chr12:7055060 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.35G>A (p.Ser12Asn) single nucleotide variant Inborn genetic diseases [RCV002568684]|Temtamy syndrome [RCV001248170] Chr12:6944156 [GRCh38]
Chr12:7053319 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.24G>A (p.Pro8=) single nucleotide variant Temtamy syndrome [RCV001203515] Chr12:6944145 [GRCh38]
Chr12:7053308 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_138425.4(C12orf57):c.115G>A (p.Ala39Thr) single nucleotide variant Temtamy syndrome [RCV001050635] Chr12:6944538 [GRCh38]
Chr12:7053701 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.116C>T (p.Ala39Val) single nucleotide variant Temtamy syndrome [RCV001063249] Chr12:6944539 [GRCh38]
Chr12:7053702 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.155_166del (p.Gln52_Leu55del) deletion Temtamy syndrome [RCV001291762] Chr12:6944572..6944583 [GRCh38]
Chr12:7053735..7053746 [GRCh37]
Chr12:12p13.31		 uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:189145-7730395)x3 copy number gain not provided [RCV001537906] Chr12:189145..7730395 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
NM_138425.4(C12orf57):c.323C>T (p.Pro108Leu) single nucleotide variant Temtamy syndrome [RCV001295359] Chr12:6945864 [GRCh38]
Chr12:7055027 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.284T>A (p.Ile95Asn) single nucleotide variant Temtamy syndrome [RCV001335390] Chr12:6945825 [GRCh38]
Chr12:7054988 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.248G>T (p.Arg83Leu) single nucleotide variant Temtamy syndrome [RCV001308398] Chr12:6945789 [GRCh38]
Chr12:7054952 [GRCh37]
Chr12:12p13.31		 uncertain significance
NC_000012.11:g.(?_6945914)_(9027627_?)dup duplication Developmental and epileptic encephalopathy, 21 [RCV001325295]|Klippel-Feil syndrome 3, autosomal dominant [RCV001301079]|Temtamy syndrome [RCV000816630]|not provided [RCV001859243] Chr12:6945914..9027627 [GRCh37]
Chr12:12p13.31		 uncertain significance|no classifications from unflagged records
NM_138425.4(C12orf57):c.33G>C (p.Leu11Phe) single nucleotide variant Temtamy syndrome [RCV001316336]|not provided [RCV001529722] Chr12:6944154 [GRCh38]
Chr12:7053317 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.20A>C (p.Gln7Pro) single nucleotide variant Temtamy syndrome [RCV001306603] Chr12:6944141 [GRCh38]
Chr12:7053304 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.78G>C (p.Ala26=) single nucleotide variant Temtamy syndrome [RCV001392360] Chr12:6944501 [GRCh38]
Chr12:7053664 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.3(C12orf57):c.-279C>G single nucleotide variant Aicardi-Goutieres syndrome 9 [RCV001795577] Chr12:6943843 [GRCh38]
Chr12:7053006 [GRCh37]
Chr12:12p13.31		 likely pathogenic
NM_138425.4(C12orf57):c.231T>C (p.Gly77=) single nucleotide variant Temtamy syndrome [RCV001414913] Chr12:6945772 [GRCh38]
Chr12:7054935 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.10G>C (p.Ala4Pro) single nucleotide variant Temtamy syndrome [RCV001341900] Chr12:6944131 [GRCh38]
Chr12:7053294 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.51G>A (p.Lys17=) single nucleotide variant Temtamy syndrome [RCV001315555] Chr12:6944172 [GRCh38]
Chr12:7053335 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NC_000012.11:g.(?_6438478)_(7362819_?)dup duplication Temtamy syndrome [RCV001365174] Chr12:6438478..7362819 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.229+5G>T single nucleotide variant Temtamy syndrome [RCV001315813] Chr12:6944657 [GRCh38]
Chr12:7053820 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.332C>A (p.Thr111Asn) single nucleotide variant Inborn genetic diseases [RCV002550187]|Temtamy syndrome [RCV001374187]|not provided [RCV003324830] Chr12:6945873 [GRCh38]
Chr12:7055036 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.340C>T (p.Pro114Ser) single nucleotide variant Temtamy syndrome [RCV001343141] Chr12:6945881 [GRCh38]
Chr12:7055044 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.23C>T (p.Pro8Leu) single nucleotide variant Temtamy syndrome [RCV001352326] Chr12:6944144 [GRCh38]
Chr12:7053307 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.218G>T (p.Cys73Phe) single nucleotide variant Temtamy syndrome [RCV001366488] Chr12:6944641 [GRCh38]
Chr12:7053804 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.11C>G (p.Ala4Gly) single nucleotide variant Temtamy syndrome [RCV001337458] Chr12:6944132 [GRCh38]
Chr12:7053295 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.111C>T (p.Asp37=) single nucleotide variant Temtamy syndrome [RCV001404379] Chr12:6944534 [GRCh38]
Chr12:7053697 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.81C>T (p.Phe27=) single nucleotide variant Temtamy syndrome [RCV001473064] Chr12:6944504 [GRCh38]
Chr12:7053667 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.163C>T (p.Leu55=) single nucleotide variant Temtamy syndrome [RCV001485387] Chr12:6944586 [GRCh38]
Chr12:7053749 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.15G>T (p.Ser5=) single nucleotide variant Temtamy syndrome [RCV001498611] Chr12:6944136 [GRCh38]
Chr12:7053299 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.168C>G (p.Pro56=) single nucleotide variant Temtamy syndrome [RCV001476382] Chr12:6944591 [GRCh38]
Chr12:7053754 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.3(C12orf57):c.-263C>T single nucleotide variant not provided [RCV001538402]|not specified [RCV003487441] Chr12:6943859 [GRCh38]
Chr12:7053022 [GRCh37]
Chr12:12p13.31		 benign
NM_138425.4(C12orf57):c.375C>T (p.Ala125=) single nucleotide variant Temtamy syndrome [RCV001478257] Chr12:6945916 [GRCh38]
Chr12:7055079 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.303G>A (p.Lys101=) single nucleotide variant Temtamy syndrome [RCV001502156] Chr12:6945844 [GRCh38]
Chr12:7055007 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.319C>T (p.Leu107=) single nucleotide variant Temtamy syndrome [RCV001403461] Chr12:6945860 [GRCh38]
Chr12:7055023 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.48A>G (p.Ala16=) single nucleotide variant Temtamy syndrome [RCV001447110] Chr12:6944169 [GRCh38]
Chr12:7053332 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.348G>A (p.Gly116=) single nucleotide variant Temtamy syndrome [RCV001408022] Chr12:6945889 [GRCh38]
Chr12:7055052 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.52+9C>T single nucleotide variant Temtamy syndrome [RCV001411137] Chr12:6944182 [GRCh38]
Chr12:7053345 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.294G>C (p.Leu98=) single nucleotide variant Temtamy syndrome [RCV001432082] Chr12:6945835 [GRCh38]
Chr12:7054998 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.255C>G (p.Val85=) single nucleotide variant Temtamy syndrome [RCV001454063] Chr12:6945796 [GRCh38]
Chr12:7054959 [GRCh37]
Chr12:12p13.31		 likely benign
NM_001301834.1(C12orf57):c.-16+153G>A single nucleotide variant not provided [RCV001649595] Chr12:6943815 [GRCh38]
Chr12:7052978 [GRCh37]
Chr12:12p13.31		 benign
NM_138425.4(C12orf57):c.93G>A (p.Glu31=) single nucleotide variant Temtamy syndrome [RCV001477604] Chr12:6944516 [GRCh38]
Chr12:7053679 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.156A>G (p.Gln52=) single nucleotide variant Temtamy syndrome [RCV001478637] Chr12:6944579 [GRCh38]
Chr12:7053742 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.45A>G (p.Gln15=) single nucleotide variant Temtamy syndrome [RCV001502869] Chr12:6944166 [GRCh38]
Chr12:7053329 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.123T>C (p.Asp41=) single nucleotide variant Temtamy syndrome [RCV001485906] Chr12:6944546 [GRCh38]
Chr12:7053709 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.230-9C>T single nucleotide variant Temtamy syndrome [RCV001393831] Chr12:6945762 [GRCh38]
Chr12:7054925 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.291C>T (p.Ser97=) single nucleotide variant Temtamy syndrome [RCV002236613] Chr12:6945832 [GRCh38]
Chr12:7054995 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.318T>G (p.Phe106Leu) single nucleotide variant Temtamy syndrome [RCV002236615] Chr12:6945859 [GRCh38]
Chr12:7055022 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.52+14T>C single nucleotide variant Temtamy syndrome [RCV002236595] Chr12:6944187 [GRCh38]
Chr12:7053350 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.53-18G>C single nucleotide variant Temtamy syndrome [RCV002236600] Chr12:6944458 [GRCh38]
Chr12:7053621 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.63G>A (p.Ala21=) single nucleotide variant Temtamy syndrome [RCV002236602] Chr12:6944486 [GRCh38]
Chr12:7053649 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_138425.4(C12orf57):c.216C>T (p.Ser72=) single nucleotide variant Temtamy syndrome [RCV002236605] Chr12:6944639 [GRCh38]
Chr12:7053802 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.15G>C (p.Ser5=) single nucleotide variant Temtamy syndrome [RCV002239711] Chr12:6944136 [GRCh38]
Chr12:7053299 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.18C>G (p.Thr6=) single nucleotide variant Temtamy syndrome [RCV002239712] Chr12:6944139 [GRCh38]
Chr12:7053302 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.30C>G (p.Ala10=) single nucleotide variant Temtamy syndrome [RCV002239714] Chr12:6944151 [GRCh38]
Chr12:7053314 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.89C>G (p.Pro30Arg) single nucleotide variant Temtamy syndrome [RCV002239715] Chr12:6944512 [GRCh38]
Chr12:7053675 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.107T>C (p.Met36Thr) single nucleotide variant Temtamy syndrome [RCV002239717] Chr12:6944530 [GRCh38]
Chr12:7053693 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.123T>A (p.Asp41Glu) single nucleotide variant Temtamy syndrome [RCV002239718] Chr12:6944546 [GRCh38]
Chr12:7053709 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.341C>T (p.Pro114Leu) single nucleotide variant Temtamy syndrome [RCV002239719] Chr12:6945882 [GRCh38]
Chr12:7055045 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.367G>A (p.Val123Met) single nucleotide variant Temtamy syndrome [RCV002239720] Chr12:6945908 [GRCh38]
Chr12:7055071 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.372C>T (p.Ala124=) single nucleotide variant Temtamy syndrome [RCV002239721] Chr12:6945913 [GRCh38]
Chr12:7055076 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.3(C12orf57):c.-227C>T single nucleotide variant not provided [RCV001732686] Chr12:6943895 [GRCh38]
Chr12:7053058 [GRCh37]
Chr12:12p13.31		 likely benign
NM_001301834.1(C12orf57):c.-16+83G>T single nucleotide variant not provided [RCV001732625] Chr12:6943745 [GRCh38]
Chr12:7052908 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.52+12C>T single nucleotide variant Temtamy syndrome [RCV002236594] Chr12:6944185 [GRCh38]
Chr12:7053348 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.268G>A (p.Ala90Thr) single nucleotide variant Temtamy syndrome [RCV002236611] Chr12:6945809 [GRCh38]
Chr12:7054972 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.-27C>T single nucleotide variant not provided [RCV001732675] Chr12:6944095 [GRCh38]
Chr12:7053258 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.35G>T (p.Ser12Ile) single nucleotide variant Inborn genetic diseases [RCV003101305]|Temtamy syndrome [RCV002236592] Chr12:6944156 [GRCh38]
Chr12:7053319 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.147G>A (p.Lys49=) single nucleotide variant Temtamy syndrome [RCV002236604] Chr12:6944570 [GRCh38]
Chr12:7053733 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.229+2_229+20del deletion Temtamy syndrome [RCV002236606] Chr12:6944647..6944665 [GRCh38]
Chr12:7053810..7053828 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.230-19C>T single nucleotide variant Temtamy syndrome [RCV002236607] Chr12:6945752 [GRCh38]
Chr12:7054915 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.269C>T (p.Ala90Val) single nucleotide variant Temtamy syndrome [RCV002236612] Chr12:6945810 [GRCh38]
Chr12:7054973 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.341C>A (p.Pro114His) single nucleotide variant Temtamy syndrome [RCV002236616] Chr12:6945882 [GRCh38]
Chr12:7055045 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.3(C12orf57):c.-247C>T single nucleotide variant not provided [RCV001733237] Chr12:6943875 [GRCh38]
Chr12:7053038 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.21A>G (p.Gln7=) single nucleotide variant Temtamy syndrome [RCV002239713] Chr12:6944142 [GRCh38]
Chr12:7053305 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.89C>T (p.Pro30Leu) single nucleotide variant Temtamy syndrome [RCV002239716] Chr12:6944512 [GRCh38]
Chr12:7053675 [GRCh37]
Chr12:12p13.31		 uncertain significance
NC_000012.12:g.6946064G>C single nucleotide variant not provided [RCV001733163] Chr12:6946064 [GRCh38]
Chr12:7055227 [GRCh37]
Chr12:12p13.31		 likely benign
NM_001301834.1(C12orf57):c.-16+151C>T single nucleotide variant not provided [RCV001732674] Chr12:6943813 [GRCh38]
Chr12:7052976 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.3(C12orf57):c.-255C>T single nucleotide variant not provided [RCV001732743] Chr12:6943867 [GRCh38]
Chr12:7053030 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.3(C12orf57):c.-271C>T single nucleotide variant not provided [RCV001732790] Chr12:6943851 [GRCh38]
Chr12:7053014 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_138425.3(C12orf57):c.-194A>G single nucleotide variant not provided [RCV001733032] Chr12:6943928 [GRCh38]
Chr12:7053091 [GRCh37]
Chr12:12p13.31		 likely benign
GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3 copy number gain Obesity [RCV001801197] Chr12:146240..8330229 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
NM_138425.3(C12orf57):c.-241T>C single nucleotide variant not provided [RCV001765979] Chr12:6943881 [GRCh38]
Chr12:7053044 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.3(C12orf57):c.-226C>T single nucleotide variant not provided [RCV001765980] Chr12:6943896 [GRCh38]
Chr12:7053059 [GRCh37]
Chr12:12p13.31		 likely benign
NM_001301834.1(C12orf57):c.-16+82dup duplication not provided [RCV001732995] Chr12:6943738..6943739 [GRCh38]
Chr12:7052901..7052902 [GRCh37]
Chr12:12p13.31		 likely benign
NM_001301834.1(C12orf57):c.-16+70G>A single nucleotide variant not provided [RCV001733164] Chr12:6943732 [GRCh38]
Chr12:7052895 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.3(C12orf57):c.-277A>G single nucleotide variant Aicardi-Goutieres syndrome 9 [RCV001797008] Chr12:6943845 [GRCh38]
Chr12:7053008 [GRCh37]
Chr12:12p13.31		 likely pathogenic
NM_138425.4(C12orf57):c.-3C>T single nucleotide variant C12orf57-related disorder [RCV003931310]|not provided [RCV001733490]|not specified [RCV001821973] Chr12:6944119 [GRCh38]
Chr12:7053282 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_138425.4(C12orf57):c.-91_-75del deletion not provided [RCV001756336] Chr12:6944031..6944047 [GRCh38]
Chr12:7053194..7053210 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.76G>A (p.Ala26Thr) single nucleotide variant not specified [RCV001817263] Chr12:6944499 [GRCh38]
Chr12:7053662 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.-4C>T single nucleotide variant C12orf57-related disorder [RCV003976221]|not provided [RCV002275234]|not specified [RCV001817547] Chr12:6944118 [GRCh38]
Chr12:7053281 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_138425.3(C12orf57):c.-191G>A single nucleotide variant not provided [RCV001837693] Chr12:6943931 [GRCh38]
Chr12:7053094 [GRCh37]
Chr12:12p13.31		 likely benign
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301) copy number gain not specified [RCV002052958] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
NC_000012.11:g.(?_6438478)_(8756953_?)dup duplication not provided [RCV001970781] Chr12:6438478..8756953 [GRCh37]
Chr12:12p13.31		 uncertain significance
NC_000012.11:g.(?_6438478)_(8248686_?)dup duplication Temtamy syndrome [RCV003120743]|not provided [RCV001913769] Chr12:6438478..8248686 [GRCh37]
Chr12:12p13.31		 uncertain significance|no classifications from unflagged records
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865) copy number gain not specified [RCV002052955] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837) copy number gain not specified [RCV002052957] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.31(chr12:6872634-7244086) copy number gain not specified [RCV002052969] Chr12:6872634..7244086 [GRCh37]
Chr12:12p13.31		 uncertain significance
GRCh37/hg19 12p13.31(chr12:6530146-7376398) copy number gain not specified [RCV002052968] Chr12:6530146..7376398 [GRCh37]
Chr12:12p13.31		 uncertain significance
NC_000012.11:g.(?_6978008)_(9010204_?)dup duplication Peroxisome biogenesis disorder 2B [RCV001877402] Chr12:6978008..9010204 [GRCh37]
Chr12:12p13.31		 uncertain significance
NC_000012.11:g.(?_6438478)_(9027607_?)dup duplication not provided [RCV001943267] Chr12:6438478..9027607 [GRCh37]
Chr12:12p13.31		 uncertain significance
NC_000012.11:g.(?_6945914)_(7362819_?)dup duplication not provided [RCV001943326] Chr12:6945914..7362819 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.8C>T (p.Ser3Phe) single nucleotide variant Temtamy syndrome [RCV002236591] Chr12:6944129 [GRCh38]
Chr12:7053292 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.52+16G>C single nucleotide variant Temtamy syndrome [RCV002236597] Chr12:6944189 [GRCh38]
Chr12:7053352 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.-28C>T single nucleotide variant not provided [RCV002255068] Chr12:6944094 [GRCh38]
Chr12:7053257 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.192G>A (p.Glu64=) single nucleotide variant Temtamy syndrome [RCV003121725] Chr12:6944615 [GRCh38]
Chr12:7053778 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.55dup (p.Val19fs) duplication Temtamy syndrome [RCV003149142] Chr12:6944476..6944477 [GRCh38]
Chr12:7053639..7053640 [GRCh37]
Chr12:12p13.31		 pathogenic
NM_138425.4(C12orf57):c.52+15A>T single nucleotide variant Temtamy syndrome [RCV002236596] Chr12:6944188 [GRCh38]
Chr12:7053351 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.52+18C>T single nucleotide variant Temtamy syndrome [RCV002236599] Chr12:6944191 [GRCh38]
Chr12:7053354 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.53-15G>A single nucleotide variant Temtamy syndrome [RCV002236601] Chr12:6944461 [GRCh38]
Chr12:7053624 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.253G>A (p.Val85Ile) single nucleotide variant Inborn genetic diseases [RCV003089234]|Temtamy syndrome [RCV002236610] Chr12:6945794 [GRCh38]
Chr12:7054957 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.317T>A (p.Phe106Tyr) single nucleotide variant Temtamy syndrome [RCV002236614] Chr12:6945858 [GRCh38]
Chr12:7055021 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.3(C12orf57):c.-267_-260delCTGGCTTT deletion Aicardi-Goutieres syndrome 9 [RCV001568345]|not provided [RCV002292648] Chr12:6943849..6943856 [GRCh38]
Chr12:7053012..7053019 [GRCh37]
Chr12:12p13.31		 pathogenic|likely pathogenic
NM_138425.3(C12orf57):c.-276G>C single nucleotide variant not provided [RCV002292851] Chr12:6943846 [GRCh38]
Chr12:7053009 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.3(C12orf57):c.-270T>G single nucleotide variant not provided [RCV002292852] Chr12:6943852 [GRCh38]
Chr12:7053015 [GRCh37]
Chr12:12p13.31		 uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3 copy number gain not provided [RCV002472514] Chr12:173787..8320544 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
NM_138425.4(C12orf57):c.279T>G (p.Pro93=) single nucleotide variant not provided [RCV002511724] Chr12:6945820 [GRCh38]
Chr12:7054983 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.53-23_53-11del deletion Temtamy syndrome [RCV002839461] Chr12:6944451..6944463 [GRCh38]
Chr12:7053614..7053626 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.90G>A (p.Pro30=) single nucleotide variant Temtamy syndrome [RCV002726373] Chr12:6944513 [GRCh38]
Chr12:7053676 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.139A>G (p.Met47Val) single nucleotide variant Temtamy syndrome [RCV002843583] Chr12:6944562 [GRCh38]
Chr12:7053725 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.52+25_52+26insGGGCTGCTGGCCTGGGGTAGTCAAGGCAT insertion Temtamy syndrome [RCV002903631] Chr12:6944186..6944187 [GRCh38]
Chr12:7053349..7053350 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.115G>C (p.Ala39Pro) single nucleotide variant Temtamy syndrome [RCV002755814] Chr12:6944538 [GRCh38]
Chr12:7053701 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.52+3G>A single nucleotide variant Temtamy syndrome [RCV002751463] Chr12:6944176 [GRCh38]
Chr12:7053339 [GRCh37]
Chr12:12p13.31		 uncertain significance
NR_023317.1(RNU7-1):n.23T>G single nucleotide variant Aicardi-Goutieres syndrome 9 [RCV002509899] Chr12:6943838 [GRCh38]
Chr12:7053001 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.230-11C>T single nucleotide variant Temtamy syndrome [RCV002842094] Chr12:6945760 [GRCh38]
Chr12:7054923 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.32T>C (p.Leu11Ser) single nucleotide variant Temtamy syndrome [RCV003022040] Chr12:6944153 [GRCh38]
Chr12:7053316 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.19C>T (p.Gln7Ter) single nucleotide variant Temtamy syndrome [RCV002740276] Chr12:6944140 [GRCh38]
Chr12:7053303 [GRCh37]
Chr12:12p13.31		 pathogenic
NM_138425.4(C12orf57):c.6G>T (p.Ala2=) single nucleotide variant Temtamy syndrome [RCV002999794] Chr12:6944127 [GRCh38]
Chr12:7053290 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.52+17T>C single nucleotide variant Temtamy syndrome [RCV002761631] Chr12:6944190 [GRCh38]
Chr12:7053353 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.230-16C>T single nucleotide variant Temtamy syndrome [RCV002659221] Chr12:6945755 [GRCh38]
Chr12:7054918 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.52+19A>C single nucleotide variant Temtamy syndrome [RCV003024818] Chr12:6944192 [GRCh38]
Chr12:7053355 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.52+12C>G single nucleotide variant Temtamy syndrome [RCV003084217] Chr12:6944185 [GRCh38]
Chr12:7053348 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.52+1G>C single nucleotide variant Temtamy syndrome [RCV002801087] Chr12:6944174 [GRCh38]
Chr12:7053337 [GRCh37]
Chr12:12p13.31		 likely pathogenic
NM_138425.4(C12orf57):c.143del (p.Gly48fs) deletion Temtamy syndrome [RCV002875960] Chr12:6944564 [GRCh38]
Chr12:7053727 [GRCh37]
Chr12:12p13.31		 pathogenic
NM_138425.4(C12orf57):c.53-12_53-9dup duplication Temtamy syndrome [RCV002810579] Chr12:6944463..6944464 [GRCh38]
Chr12:7053626..7053627 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.256A>C (p.Lys86Gln) single nucleotide variant Temtamy syndrome [RCV002899863] Chr12:6945797 [GRCh38]
Chr12:7054960 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.53-8del deletion Temtamy syndrome [RCV002715680] Chr12:6944467 [GRCh38]
Chr12:7053630 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.53-10T>C single nucleotide variant Temtamy syndrome [RCV002647183] Chr12:6944466 [GRCh38]
Chr12:7053629 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.368T>C (p.Val123Ala) single nucleotide variant Temtamy syndrome [RCV002857228] Chr12:6945909 [GRCh38]
Chr12:7055072 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.183C>G (p.Ile61Met) single nucleotide variant Temtamy syndrome [RCV002629471] Chr12:6944606 [GRCh38]
Chr12:7053769 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.154C>T (p.Gln52Ter) single nucleotide variant Temtamy syndrome [RCV003087824] Chr12:6944577 [GRCh38]
Chr12:7053740 [GRCh37]
Chr12:12p13.31		 pathogenic
NM_138425.4(C12orf57):c.5C>T (p.Ala2Val) single nucleotide variant Temtamy syndrome [RCV002672262] Chr12:6944126 [GRCh38]
Chr12:7053289 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.41dup (p.Gln15fs) duplication Temtamy syndrome [RCV002649768] Chr12:6944161..6944162 [GRCh38]
Chr12:7053324..7053325 [GRCh37]
Chr12:12p13.31		 pathogenic
NM_138425.4(C12orf57):c.130T>A (p.Cys44Ser) single nucleotide variant Temtamy syndrome [RCV002895728] Chr12:6944553 [GRCh38]
Chr12:7053716 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.331A>G (p.Thr111Ala) single nucleotide variant Inborn genetic diseases [RCV002719061] Chr12:6945872 [GRCh38]
Chr12:7055035 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.31T>A (p.Leu11Met) single nucleotide variant Temtamy syndrome [RCV003030700] Chr12:6944152 [GRCh38]
Chr12:7053315 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.52+13C>T single nucleotide variant Temtamy syndrome [RCV002680981] Chr12:6944186 [GRCh38]
Chr12:7053349 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.230-7C>T single nucleotide variant Temtamy syndrome [RCV002605216] Chr12:6945764 [GRCh38]
Chr12:7054927 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.230-10C>T single nucleotide variant Temtamy syndrome [RCV002633283] Chr12:6945761 [GRCh38]
Chr12:7054924 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.41A>G (p.Glu14Gly) single nucleotide variant Temtamy syndrome [RCV003071017] Chr12:6944162 [GRCh38]
Chr12:7053325 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.230-15C>T single nucleotide variant Temtamy syndrome [RCV003092847] Chr12:6945756 [GRCh38]
Chr12:7054919 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.63G>T (p.Ala21=) single nucleotide variant Temtamy syndrome [RCV003051349] Chr12:6944486 [GRCh38]
Chr12:7053649 [GRCh37]
Chr12:12p13.31		 likely benign
GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4 copy number gain Pallister-Killian syndrome [RCV003154827] Chr12:176047..34179852 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_138425.4(C12orf57):c.32dup (p.Leu11fs) duplication not provided [RCV003319776] Chr12:6944151..6944152 [GRCh38]
Chr12:7053314..7053315 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.3(C12orf57):c.-266T>C single nucleotide variant not provided [RCV003326851] Chr12:6943856 [GRCh38]
Chr12:7053019 [GRCh37]
Chr12:12p13.31		 likely benign
Single allele duplication not provided [RCV003448692] Chr12:188053..34856694 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_138425.4(C12orf57):c.3G>A (p.Met1Ile) single nucleotide variant Temtamy syndrome [RCV003388703]|not provided [RCV004572962] Chr12:6944124 [GRCh38]
Chr12:7053287 [GRCh37]
Chr12:12p13.31		 pathogenic
NM_138425.4(C12orf57):c.261C>G (p.Ser87=) single nucleotide variant Temtamy syndrome [RCV003577776] Chr12:6945802 [GRCh38]
Chr12:7054965 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.63G>C (p.Ala21=) single nucleotide variant Temtamy syndrome [RCV003577790] Chr12:6944486 [GRCh38]
Chr12:7053649 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.52+10G>A single nucleotide variant Temtamy syndrome [RCV003577796] Chr12:6944183 [GRCh38]
Chr12:7053346 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.53-7C>A single nucleotide variant Temtamy syndrome [RCV003579856] Chr12:6944469 [GRCh38]
Chr12:7053632 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.53-11C>T single nucleotide variant Temtamy syndrome [RCV003839653] Chr12:6944465 [GRCh38]
Chr12:7053628 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.53-7C>T single nucleotide variant Temtamy syndrome [RCV003811779] Chr12:6944469 [GRCh38]
Chr12:7053632 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.177G>A (p.Thr59=) single nucleotide variant Temtamy syndrome [RCV003814119] Chr12:6944600 [GRCh38]
Chr12:7053763 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.327C>T (p.Pro109=) single nucleotide variant Temtamy syndrome [RCV003735137] Chr12:6945868 [GRCh38]
Chr12:7055031 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.213C>T (p.Phe71=) single nucleotide variant Temtamy syndrome [RCV003735250] Chr12:6944636 [GRCh38]
Chr12:7053799 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.229+11C>G single nucleotide variant Temtamy syndrome [RCV003735446] Chr12:6944663 [GRCh38]
Chr12:7053826 [GRCh37]
Chr12:12p13.31		 likely benign
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3 copy number gain not specified [RCV003986979] Chr12:173786..34835641 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_138425.4(C12orf57):c.195T>G (p.Val65=) single nucleotide variant Temtamy syndrome [RCV003735466] Chr12:6944618 [GRCh38]
Chr12:7053781 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.52+7A>G single nucleotide variant Temtamy syndrome [RCV003737476] Chr12:6944180 [GRCh38]
Chr12:7053343 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.52+17T>G single nucleotide variant Temtamy syndrome [RCV003738579] Chr12:6944190 [GRCh38]
Chr12:7053353 [GRCh37]
Chr12:12p13.31		 likely benign
NM_138425.4(C12orf57):c.4del (p.Ala2fs) deletion Temtamy syndrome [RCV003735402] Chr12:6944124 [GRCh38]
Chr12:7053287 [GRCh37]
Chr12:12p13.31		 pathogenic
NM_138425.3(C12orf57):c.-258T>C single nucleotide variant not provided [RCV003885536] Chr12:6943864 [GRCh38]
Chr12:7053027 [GRCh37]
Chr12:12p13.31		 likely benign
NM_001301836.2(C12orf57):c.13+1G>A single nucleotide variant C12orf57-related disorder [RCV003956773] Chr12:6943663 [GRCh38]
Chr12:7052826 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_138425.4(C12orf57):c.-7del deletion C12orf57-related disorder [RCV003981691] Chr12:6944115 [GRCh38]
Chr12:7053278 [GRCh37]
Chr12:12p13.31		 likely benign
NC_000012.11:g.(?_7053285)_(9027607_?)del deletion Developmental and epileptic encephalopathy, 21 [RCV004578381]|Peroxisome biogenesis disorder 2B [RCV004578380] Chr12:7053285..9027607 [GRCh37]
Chr12:12p13.31		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2347
Count of miRNA genes:655
Interacting mature miRNAs:743
Transcripts:ENST00000229281, ENST00000537087, ENST00000538392, ENST00000540506, ENST00000542222, ENST00000544681, ENST00000545581
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407370777GWAS1019753_Hblood protein measurement QTL GWAS1019753 (human)8e-80blood protein measurementblood protein measurement (CMO:0000028)1269439866943987Human

Markers in Region
RH11235  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37127,051,358 - 7,051,481UniSTSGRCh37
Build 36126,921,619 - 6,921,742RGDNCBI36
Celera128,669,979 - 8,670,102RGD
Cytogenetic Map12p13.31UniSTS
HuRef126,907,460 - 6,907,583UniSTS
GeneMap99-GB4 RH Map1243.35UniSTS
NCBI RH Map1294.1UniSTS
SHGC-31976  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37127,055,019 - 7,055,162UniSTSGRCh37
Build 36126,925,280 - 6,925,423RGDNCBI36
Celera128,673,640 - 8,673,783RGD
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map12p13UniSTS
HuRef126,911,123 - 6,911,266UniSTS
Stanford-G3 RH Map12441.0UniSTS
NCBI RH Map12127.8UniSTS
GeneMap99-G3 RH Map12441.0UniSTS


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
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2438 2788 2253 4973 1726 2351 6 624 1951 465 2269 7305 6472 53 3734 1 852 1744 1617 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_034262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001301834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001301836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001301837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001301838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_138425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_126035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK310266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV751928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE888740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM687523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM781587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP318750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB161655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB494917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U47924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000229281   ⟹   ENSP00000229281
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,944,022 - 6,946,002 (+)Ensembl
Ensembl Acc Id: ENST00000537087   ⟹   ENSP00000440937
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,943,834 - 6,946,002 (+)Ensembl
Ensembl Acc Id: ENST00000538392
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,942,978 - 6,945,066 (+)Ensembl
Ensembl Acc Id: ENST00000540506   ⟹   ENSP00000475635
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,944,122 - 6,945,996 (+)Ensembl
Ensembl Acc Id: ENST00000542222
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,943,433 - 6,946,003 (+)Ensembl
Ensembl Acc Id: ENST00000544681   ⟹   ENSP00000475422
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,943,817 - 6,945,098 (+)Ensembl
Ensembl Acc Id: ENST00000545581   ⟹   ENSP00000440602
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,943,502 - 6,945,921 (+)Ensembl
RefSeq Acc Id: NM_001301834   ⟹   NP_001288763
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,943,502 - 6,946,003 (+)NCBI
CHM1_1127,051,652 - 7,054,153 (+)NCBI
T2T-CHM13v2.0126,954,668 - 6,957,169 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001301836   ⟹   NP_001288765
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,943,433 - 6,946,002 (+)NCBI
CHM1_1127,051,588 - 7,054,153 (+)NCBI
T2T-CHM13v2.0126,954,599 - 6,957,168 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001301837   ⟹   NP_001288766
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,944,022 - 6,946,002 (+)NCBI
CHM1_1127,051,967 - 7,054,153 (+)NCBI
T2T-CHM13v2.0126,955,188 - 6,957,168 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001301838   ⟹   NP_001288767
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,944,022 - 6,946,002 (+)NCBI
CHM1_1127,051,967 - 7,054,153 (+)NCBI
T2T-CHM13v2.0126,955,188 - 6,957,168 (+)NCBI
Sequence:
RefSeq Acc Id: NM_138425   ⟹   NP_612434
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,944,022 - 6,946,002 (+)NCBI
GRCh37127,052,146 - 7,055,165 (+)NCBI
Build 36126,923,464 - 6,925,426 (+)NCBI Archive
Celera128,671,824 - 8,673,786 (+)RGD
HuRef126,909,305 - 6,911,269 (+)RGD
CHM1_1127,051,967 - 7,054,153 (+)NCBI
T2T-CHM13v2.0126,955,188 - 6,957,168 (+)NCBI
Sequence:
RefSeq Acc Id: NR_126035
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,944,022 - 6,946,002 (+)NCBI
CHM1_1127,051,967 - 7,054,153 (+)NCBI
T2T-CHM13v2.0126,955,188 - 6,957,168 (+)NCBI
Sequence:
RefSeq Acc Id: NP_612434   ⟸   NM_138425
- Peptide Label: isoform 1
- UniProtKB: B2R4Q6 (UniProtKB/Swiss-Prot),   Q99622 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001288765   ⟸   NM_001301836
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: NP_001288763   ⟸   NM_001301834
- Peptide Label: isoform 1
- UniProtKB: B2R4Q6 (UniProtKB/Swiss-Prot),   Q99622 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001288767   ⟸   NM_001301838
- Peptide Label: isoform 4
- UniProtKB: U3KQ85 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001288766   ⟸   NM_001301837
- Peptide Label: isoform 3
- UniProtKB: F5GXW5 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000229281   ⟸   ENST00000229281
Ensembl Acc Id: ENSP00000475422   ⟸   ENST00000544681
Ensembl Acc Id: ENSP00000440602   ⟸   ENST00000545581
Ensembl Acc Id: ENSP00000440937   ⟸   ENST00000537087
Ensembl Acc Id: ENSP00000475635   ⟸   ENST00000540506

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q99622-F1-model_v2 AlphaFold Q99622 1-126 view protein structure

Promoters
RGD ID:6789635
Promoter ID:HG_KWN:14871
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:UC009ZFJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36126,921,846 - 6,922,346 (+)MPROMDB
RGD ID:6789744
Promoter ID:HG_KWN:14872
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_138425,   UC009ZFK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36126,923,161 - 6,923,661 (+)MPROMDB
RGD ID:7222987
Promoter ID:EPDNEW_H17239
Type:initiation region
Name:C12orf57_1
Description:chromosome 12 open reading frame 57
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,944,023 - 6,944,083EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29521 AgrOrtholog
COSMIC C12orf57 COSMIC
Ensembl Genes ENSG00000111678 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000229281 ENTREZGENE
  ENST00000229281.6 UniProtKB/Swiss-Prot
  ENST00000537087 ENTREZGENE
  ENST00000537087.5 UniProtKB/TrEMBL
  ENST00000540506 ENTREZGENE
  ENST00000540506.2 UniProtKB/TrEMBL
  ENST00000542222 ENTREZGENE
  ENST00000544681.1 UniProtKB/TrEMBL
  ENST00000545581 ENTREZGENE
  ENST00000545581.5 UniProtKB/Swiss-Prot
GTEx ENSG00000111678 GTEx
HGNC ID HGNC:29521 ENTREZGENE
Human Proteome Map C12orf57 Human Proteome Map
InterPro P_C10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:113246 UniProtKB/Swiss-Prot
NCBI Gene 113246 ENTREZGENE
OMIM 615140 OMIM
PANTHER PROTEIN C10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR13463 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam P_C10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA143485386 PharmGKB
UniProt B2R4Q6 ENTREZGENE
  C10_HUMAN UniProtKB/Swiss-Prot
  F5GXW5 ENTREZGENE, UniProtKB/TrEMBL
  Q99622 ENTREZGENE
  U3KQ07_HUMAN UniProtKB/TrEMBL
  U3KQ85 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B2R4Q6 UniProtKB/Swiss-Prot