CCDC141 (coiled-coil domain containing 141) - Rat Genome Database

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Gene: CCDC141 (coiled-coil domain containing 141) Homo sapiens
Analyze
Symbol: CCDC141
Name: coiled-coil domain containing 141
RGD ID: 1606113
HGNC Page HGNC:26821
Description: Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in axon guidance and brain development. Predicted to act upstream of or within centrosome localization and cerebral cortex radially oriented cell migration. Predicted to be located in cytoplasm; cytoskeleton; and plasma membrane. Predicted to be extrinsic component of membrane. Predicted to be part of centrosome.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: CAMDI; coiled-coil domain-containing protein 141; coiled-coil protein associated with myosin II and DISC1; DKFZp686G197; FLJ26337; FLJ39502; MGC134803
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
GRCh382178,814,978 - 179,050,137 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2178,829,757 - 179,050,137 (-)EnsemblGRCh38hg38GRCh38
GRCh372179,694,484 - 179,914,864 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362179,408,737 - 179,457,923 (-)NCBINCBI36Build 36hg18NCBI36
Celera2173,288,863 - 173,509,183 (-)NCBICelera
Cytogenetic Map2q31.2NCBI
HuRef2171,562,469 - 171,783,448 (-)NCBIHuRef
CHM1_12179,700,551 - 179,920,951 (-)NCBICHM1_1
T2T-CHM13v2.02179,298,041 - 179,533,308 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
centrosome  (IEA)
cytoplasm  (IEA)
cytoskeleton  (IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:12812986   PMID:14702039   PMID:19536175   PMID:20301509   PMID:20956536   PMID:21873635   PMID:23414517   PMID:23583979   PMID:24165912   PMID:24952745   PMID:27014940  
PMID:27337956   PMID:27634302   PMID:28324054   PMID:30021884   PMID:32296183   PMID:32520725   PMID:32814053   PMID:33961781   PMID:34373451   PMID:35044719  


Genomics

Comparative Map Data
CCDC141
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382178,814,978 - 179,050,137 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2178,829,757 - 179,050,137 (-)EnsemblGRCh38hg38GRCh38
GRCh372179,694,484 - 179,914,864 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362179,408,737 - 179,457,923 (-)NCBINCBI36Build 36hg18NCBI36
Celera2173,288,863 - 173,509,183 (-)NCBICelera
Cytogenetic Map2q31.2NCBI
HuRef2171,562,469 - 171,783,448 (-)NCBIHuRef
CHM1_12179,700,551 - 179,920,951 (-)NCBICHM1_1
T2T-CHM13v2.02179,298,041 - 179,533,308 (-)NCBIT2T-CHM13v2.0
Ccdc141
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39276,840,246 - 77,006,424 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl276,840,246 - 77,000,980 (-)EnsemblGRCm39 Ensembl
GRCm38277,009,902 - 77,173,769 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl277,009,902 - 77,170,636 (-)EnsemblGRCm38mm10GRCm38
MGSCv37276,847,963 - 77,008,692 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36276,845,810 - 76,971,475 (-)NCBIMGSCv36mm8
Celera278,671,325 - 78,831,755 (-)NCBICelera
Cytogenetic Map2C3NCBI
cM Map245.38NCBI
Ccdc141
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8382,357,046 - 82,517,199 (-)NCBIGRCr8
mRatBN7.2361,948,614 - 62,109,968 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl361,948,646 - 62,110,079 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.0363,865,240 - 64,024,208 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl363,863,951 - 64,024,205 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0370,435,617 - 70,594,414 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4359,695,400 - 59,852,872 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera361,433,996 - 61,593,776 (-)NCBICelera
Cytogenetic Map3q24NCBI
Ccdc141
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540317,850,260 - 18,034,550 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540317,850,119 - 18,032,722 (+)NCBIChiLan1.0ChiLan1.0
CCDC141
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21381,464,759 - 81,697,486 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B81,479,733 - 81,712,460 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B66,086,654 - 66,307,309 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B183,789,681 - 184,009,800 (-)NCBIpanpan1.1PanPan1.1panPan2
CCDC141
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13622,437,363 - 22,626,200 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3622,492,052 - 22,625,957 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3622,459,560 - 22,647,945 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03622,584,881 - 22,786,054 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3622,593,763 - 22,785,858 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13622,693,715 - 22,881,608 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03622,657,136 - 22,844,916 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03622,773,109 - 22,967,878 (-)NCBIUU_Cfam_GSD_1.0
Ccdc141
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303139,467,214 - 139,651,070 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365098,020,170 - 8,204,871 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365098,020,525 - 8,204,992 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CCDC141
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1584,535,922 - 84,734,182 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11584,534,725 - 84,745,296 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21594,035,367 - 94,241,444 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CCDC141
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11064,378,339 - 64,602,307 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1064,392,414 - 64,590,923 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666040134,959,998 - 135,182,411 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ccdc141
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624844784,029 - 1,004,008 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624844785,097 - 1,010,155 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CCDC141
306 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_173648.4(CCDC141):c.3627C>T (p.Val1209=) single nucleotide variant not provided [RCV000914415] Chr2:178837592 [GRCh38]
Chr2:179702319 [GRCh37]
Chr2:2q31.2		 likely benign
GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1 copy number loss See cases [RCV000050980] Chr2:174898848..203941548 [GRCh38]
Chr2:175763576..204806271 [GRCh37]
Chr2:175471822..204514516 [NCBI36]
Chr2:2q31.1-33.2		 pathogenic
GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1 copy number loss See cases [RCV000052558] Chr2:176304445..202039790 [GRCh38]
Chr2:177169173..202904513 [GRCh37]
Chr2:176877419..202612758 [NCBI36]
Chr2:2q31.1-33.1		 pathogenic
GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1 copy number loss See cases [RCV000052559] Chr2:177874070..198525492 [GRCh38]
Chr2:178738797..199390216 [GRCh37]
Chr2:178447043..199098461 [NCBI36]
Chr2:2q31.2-33.1		 pathogenic
GRCh38/hg38 2q31.2-32.1(chr2:178880151-185352829)x1 copy number loss See cases [RCV000052560] Chr2:178880151..185352829 [GRCh38]
Chr2:179744878..186217556 [GRCh37]
Chr2:179453123..185925801 [NCBI36]
Chr2:2q31.2-32.1		 pathogenic
GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1 copy number loss See cases [RCV000054122] Chr2:163965382..182195062 [GRCh38]
Chr2:164821892..183059789 [GRCh37]
Chr2:164530138..182768034 [NCBI36]
Chr2:2q24.3-32.1		 pathogenic
GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1 copy number loss See cases [RCV000054127] Chr2:170407688..186189894 [GRCh38]
Chr2:171264198..187054621 [GRCh37]
Chr2:170972444..186762866 [NCBI36]
Chr2:2q31.1-32.1		 pathogenic
NM_173648.3(CCDC141):c.4325+3G>A single nucleotide variant Malignant melanoma [RCV000065296] Chr2:178836891 [GRCh38]
Chr2:179701618 [GRCh37]
Chr2:179409863 [NCBI36]
Chr2:2q31.2		 not provided
NM_173648.3(CCDC141):c.4381G>A (p.Glu1461Lys) single nucleotide variant Malignant melanoma [RCV000065294] Chr2:178834385 [GRCh38]
Chr2:179699112 [GRCh37]
Chr2:179407357 [NCBI36]
Chr2:2q31.2		 not provided
NM_173648.3(CCDC141):c.4325+4G>A single nucleotide variant Malignant melanoma [RCV000065295] Chr2:178836890 [GRCh38]
Chr2:179701617 [GRCh37]
Chr2:179409862 [NCBI36]
Chr2:2q31.2		 not provided
NM_173648.3(CCDC141):c.3135G>A (p.Lys1045=) single nucleotide variant Malignant melanoma [RCV000065297] Chr2:178853550 [GRCh38]
Chr2:179718277 [GRCh37]
Chr2:179426522 [NCBI36]
Chr2:2q31.2		 not provided
NM_173648.3(CCDC141):c.2854G>A (p.Glu952Lys) single nucleotide variant Malignant melanoma [RCV000065298] Chr2:178856268 [GRCh38]
Chr2:179720995 [GRCh37]
Chr2:179429240 [NCBI36]
Chr2:2q31.2		 not provided
NM_173648.3(CCDC141):c.2794G>A (p.Glu932Lys) single nucleotide variant Malignant melanoma [RCV000065299] Chr2:178856328 [GRCh38]
Chr2:179721055 [GRCh37]
Chr2:179429300 [NCBI36]
Chr2:2q31.2		 not provided
NM_173648.3(CCDC141):c.2147G>A (p.Ser716Asn) single nucleotide variant Malignant melanoma [RCV000065300] Chr2:178871485 [GRCh38]
Chr2:179736212 [GRCh37]
Chr2:179444457 [NCBI36]
Chr2:2q31.2		 not provided
NM_173648.3(CCDC141):c.2026G>A (p.Glu676Lys) single nucleotide variant Malignant melanoma [RCV000065301] Chr2:178872186 [GRCh38]
Chr2:179736913 [GRCh37]
Chr2:179445158 [NCBI36]
Chr2:2q31.2		 not provided
NM_173648.3(CCDC141):c.2025G>A (p.Thr675=) single nucleotide variant Malignant melanoma [RCV000065302] Chr2:178872187 [GRCh38]
Chr2:179736914 [GRCh37]
Chr2:179445159 [NCBI36]
Chr2:2q31.2		 not provided
NM_173648.3(CCDC141):c.294G>A (p.Gln98=) single nucleotide variant Malignant melanoma [RCV000065303] Chr2:178978607 [GRCh38]
Chr2:179843334 [GRCh37]
Chr2:179551579 [NCBI36]
Chr2:2q31.2		 not provided
GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1 copy number loss See cases [RCV000136850] Chr2:171429233..189179568 [GRCh38]
Chr2:172285743..190044294 [GRCh37]
Chr2:171993989..189752539 [NCBI36]
Chr2:2q31.1-32.2		 pathogenic
GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1 copy number loss See cases [RCV000136861] Chr2:174634502..189000964 [GRCh38]
Chr2:175499230..189865690 [GRCh37]
Chr2:175207476..189573935 [NCBI36]
Chr2:2q31.1-32.2		 pathogenic
NM_173648.3(CCDC141):c.2101C>T (p.Leu701Phe) single nucleotide variant Malignant melanoma [RCV000060417] Chr2:178871531 [GRCh38]
Chr2:179736258 [GRCh37]
Chr2:179444503 [NCBI36]
Chr2:2q31.2		 not provided
NM_173648.3(CCDC141):c.*1916C>G single nucleotide variant Lung cancer [RCV000091698] Chr2:178832257 [GRCh38]
Chr2:179696984 [GRCh37]
Chr2:2q31.2		 uncertain significance
GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1 copy number loss See cases [RCV000141735] Chr2:177827730..195125329 [GRCh38]
Chr2:178692457..195990053 [GRCh37]
Chr2:178400703..195698298 [NCBI36]
Chr2:2q31.2-32.3		 pathogenic
GRCh37/hg19 2q31.1-32.3(chr2:177315153-196375520)x1 copy number loss See cases [RCV000239432] Chr2:177315153..196375520 [GRCh37]
Chr2:2q31.1-32.3		 pathogenic
NM_173648.4(CCDC141):c.3505A>G (p.Ile1169Val) single nucleotide variant not specified [RCV004282356] Chr2:178837714 [GRCh38]
Chr2:179702441 [GRCh37]
Chr2:2q31.2		 likely benign
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3 copy number gain See cases [RCV000448271] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_173648.4(CCDC141):c.232G>A (p.Glu78Lys) single nucleotide variant not specified [RCV004312136] Chr2:178978669 [GRCh38]
Chr2:179843396 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.1313G>A (p.Arg438Gln) single nucleotide variant not specified [RCV004290990] Chr2:178888621 [GRCh38]
Chr2:179753348 [GRCh37]
Chr2:2q31.2		 uncertain significance
GRCh38/hg38 2q31.1-31.3(chr2:174236451-181188846)x1 copy number loss See cases [RCV000143597] Chr2:174236451..181188846 [GRCh38]
Chr2:175101179..182053573 [GRCh37]
Chr2:174809425..181761818 [NCBI36]
Chr2:2q31.1-31.3		 pathogenic
GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1 copy number loss See cases [RCV000143484] Chr2:176086763..193201970 [GRCh38]
Chr2:176951491..194066696 [GRCh37]
Chr2:176659737..193774941 [NCBI36]
Chr2:2q31.1-32.3		 pathogenic
GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3 copy number gain See cases [RCV000239848] Chr2:156489430..182921298 [GRCh37]
Chr2:2q24.1-31.3		 pathogenic
NM_173648.4(CCDC141):c.1315G>A (p.Val439Met) single nucleotide variant not specified [RCV004290047] Chr2:178888619 [GRCh38]
Chr2:179753346 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.2507G>A (p.Arg836His) single nucleotide variant not specified [RCV004291633] Chr2:178868093 [GRCh38]
Chr2:179732820 [GRCh37]
Chr2:2q31.2		 likely benign
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q31.1-31.3(chr2:174238257-181604341)x1 copy number loss not provided [RCV000740710] Chr2:174238257..181604341 [GRCh37]
Chr2:2q31.1-31.3		 pathogenic
GRCh37/hg19 2q31.2(chr2:179672711-179706325)x3 copy number gain not provided [RCV000740738] Chr2:179672711..179706325 [GRCh37]
Chr2:2q31.2		 benign
GRCh37/hg19 2q31.2(chr2:179770175-179900746)x3 copy number gain not provided [RCV000740739] Chr2:179770175..179900746 [GRCh37]
Chr2:2q31.2		 benign
GRCh37/hg19 2q31.2(chr2:179853545-179886343)x1 copy number loss not provided [RCV000740740] Chr2:179853545..179886343 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.1720-224A>G single nucleotide variant not provided [RCV001649073] Chr2:178878367 [GRCh38]
Chr2:179743094 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.1900-158del deletion not provided [RCV001649074] Chr2:178872470 [GRCh38]
Chr2:179737197 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.1407+9G>A single nucleotide variant not provided [RCV001691112] Chr2:178888518 [GRCh38]
Chr2:179753245 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.1528-153_1528-152insTTA insertion not provided [RCV001612335] Chr2:178885244..178885245 [GRCh38]
Chr2:179749971..179749972 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.1278C>T (p.Ser426=) single nucleotide variant not provided [RCV000891560] Chr2:178888656 [GRCh38]
Chr2:179753383 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.1720-259T>C single nucleotide variant not provided [RCV001666292] Chr2:178878402 [GRCh38]
Chr2:179743129 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.2205+208T>C single nucleotide variant not provided [RCV001647709] Chr2:178871219 [GRCh38]
Chr2:179735946 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.1408-219A>T single nucleotide variant not provided [RCV001680592] Chr2:178887090 [GRCh38]
Chr2:179751817 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.4326-217T>C single nucleotide variant not provided [RCV001692945] Chr2:178834657 [GRCh38]
Chr2:179699384 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.2575-209T>C single nucleotide variant not provided [RCV001680704] Chr2:178866125 [GRCh38]
Chr2:179730852 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.3475-108_3475-107dup duplication not provided [RCV001693077] Chr2:178837850..178837851 [GRCh38]
Chr2:179702577..179702578 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.2394+250G>T single nucleotide variant not provided [RCV001725476] Chr2:178868867 [GRCh38]
Chr2:179733594 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.2206-112G>A single nucleotide variant not provided [RCV001643458] Chr2:178869417 [GRCh38]
Chr2:179734144 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.1667A>G (p.Tyr556Cys) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV002489407]|not provided [RCV000970952] Chr2:178884953 [GRCh38]
Chr2:179749680 [GRCh37]
Chr2:2q31.2		 benign|likely benign
NM_173648.4(CCDC141):c.781G>C (p.Val261Leu) single nucleotide variant not provided [RCV000970953] Chr2:178944651 [GRCh38]
Chr2:179809378 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.1587A>G (p.Val529=) single nucleotide variant not provided [RCV000882567] Chr2:178885033 [GRCh38]
Chr2:179749760 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.4160T>C (p.Val1387Ala) single nucleotide variant not provided [RCV000921501] Chr2:178837059 [GRCh38]
Chr2:179701786 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.1707G>A (p.Lys569=) single nucleotide variant not provided [RCV000892829] Chr2:178884913 [GRCh38]
Chr2:179749640 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.867T>C (p.His289=) single nucleotide variant not provided [RCV000882568] Chr2:178944565 [GRCh38]
Chr2:179809292 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.1755T>C (p.Tyr585=) single nucleotide variant not provided [RCV000922096] Chr2:178878108 [GRCh38]
Chr2:179742835 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.202G>A (p.Glu68Lys) single nucleotide variant CCDC141-related condition [RCV003943000]|not provided [RCV000946653]|not specified [RCV004029790] Chr2:179047307 [GRCh38]
Chr2:179912034 [GRCh37]
Chr2:2q31.2		 likely benign|uncertain significance
NM_173648.4(CCDC141):c.2346C>T (p.Tyr782=) single nucleotide variant CCDC141-related condition [RCV003923011]|not provided [RCV000903170] Chr2:178869165 [GRCh38]
Chr2:179733892 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.4260C>A (p.Val1420=) single nucleotide variant not provided [RCV000929114] Chr2:178836959 [GRCh38]
Chr2:179701686 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.3630A>G (p.Ser1210=) single nucleotide variant not provided [RCV000922323] Chr2:178837589 [GRCh38]
Chr2:179702316 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.1719+7T>C single nucleotide variant not provided [RCV000919311] Chr2:178884894 [GRCh38]
Chr2:179749621 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.2799A>G (p.Lys933=) single nucleotide variant not provided [RCV000928273] Chr2:178856323 [GRCh38]
Chr2:179721050 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.229T>C (p.Leu77=) single nucleotide variant not provided [RCV000931228] Chr2:178978672 [GRCh38]
Chr2:179843399 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.3111A>T (p.Lys1037Asn) single nucleotide variant not provided [RCV000896067] Chr2:178853574 [GRCh38]
Chr2:179718301 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.3245-9C>G single nucleotide variant not provided [RCV000936387] Chr2:178850170 [GRCh38]
Chr2:179714897 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.3500T>A (p.Leu1167Ter) single nucleotide variant not provided [RCV000918307] Chr2:178837719 [GRCh38]
Chr2:179702446 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.3075C>T (p.Tyr1025=) single nucleotide variant not provided [RCV000937271] Chr2:178853610 [GRCh38]
Chr2:179718337 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.3753G>A (p.Val1251=) single nucleotide variant not provided [RCV000902395] Chr2:178837466 [GRCh38]
Chr2:179702193 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.4539C>T (p.Thr1513=) single nucleotide variant not provided [RCV000917761] Chr2:178834227 [GRCh38]
Chr2:179698954 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.1683G>A (p.Leu561=) single nucleotide variant not provided [RCV000927412] Chr2:178884937 [GRCh38]
Chr2:179749664 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.2299G>A (p.Asp767Asn) single nucleotide variant CCDC141-related condition [RCV003938161]|Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000859990]|not provided [RCV000973230]|not specified [RCV003320746] Chr2:178869212 [GRCh38]
Chr2:179733939 [GRCh37]
Chr2:2q31.2		 likely benign|uncertain significance
NM_173648.4(CCDC141):c.181A>G (p.Lys61Glu) single nucleotide variant not specified [RCV004295816] Chr2:179047328 [GRCh38]
Chr2:179912055 [GRCh37]
Chr2:2q31.2		 uncertain significance
GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1 copy number loss not provided [RCV001005359] Chr2:174690039..195521582 [GRCh37]
Chr2:2q31.1-32.3		 pathogenic
NM_173648.4(CCDC141):c.1225C>T (p.Gln409Ter) single nucleotide variant CCDC141-related condition [RCV003432909]|not provided [RCV000915857] Chr2:178905369 [GRCh38]
Chr2:179770096 [GRCh37]
Chr2:2q31.2		 likely benign|uncertain significance
NM_173648.4(CCDC141):c.1719+255G>T single nucleotide variant not provided [RCV001643454] Chr2:178884646 [GRCh38]
Chr2:179749373 [GRCh37]
Chr2:2q31.2		 benign
GRCh37/hg19 2q31.2(chr2:179757012-179843815)x1 copy number loss not provided [RCV000848924] Chr2:179757012..179843815 [GRCh37]
Chr2:2q31.2		 uncertain significance
GRCh37/hg19 2q31.2(chr2:179696540-180316604)x3 copy number gain not provided [RCV001005361] Chr2:179696540..180316604 [GRCh37]
Chr2:2q31.2		 uncertain significance
GRCh37/hg19 2q31.1-32.1(chr2:173538954-186401606)x1 copy number loss not provided [RCV000846537] Chr2:173538954..186401606 [GRCh37]
Chr2:2q31.1-32.1		 pathogenic
GRCh37/hg19 2q31.2(chr2:179853544-179946111)x1 copy number loss not provided [RCV000846651] Chr2:179853544..179946111 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.4237A>G (p.Arg1413Gly) single nucleotide variant not specified [RCV004305125] Chr2:178836982 [GRCh38]
Chr2:179701709 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.3709C>A (p.Pro1237Thr) single nucleotide variant not specified [RCV004299477] Chr2:178837510 [GRCh38]
Chr2:179702237 [GRCh37]
Chr2:2q31.2		 uncertain significance
NC_000002.11:g.(?_179296824)_(179914668_?)dup duplication Dilated cardiomyopathy 1G [RCV003105748] Chr2:179296824..179914668 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.*56C>T single nucleotide variant not provided [RCV001641871] Chr2:178834117 [GRCh38]
Chr2:179698844 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.2394+277A>G single nucleotide variant not provided [RCV001608411] Chr2:178868840 [GRCh38]
Chr2:179733567 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.3475-139G>A single nucleotide variant not provided [RCV001684267] Chr2:178837883 [GRCh38]
Chr2:179702610 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.1266-300G>A single nucleotide variant not provided [RCV001684291] Chr2:178888968 [GRCh38]
Chr2:179753695 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.527-196C>T single nucleotide variant not provided [RCV001660956] Chr2:178961679 [GRCh38]
Chr2:179826406 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.2724+226T>C single nucleotide variant not provided [RCV001688526] Chr2:178865541 [GRCh38]
Chr2:179730268 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.1720-158_1720-157insAATAAAAT insertion not provided [RCV001676557] Chr2:178878300..178878301 [GRCh38]
Chr2:179743027..179743028 [GRCh37]
Chr2:2q31.2		 benign
NC_000002.12:g.179050394G>C single nucleotide variant not provided [RCV001686409] Chr2:179050394 [GRCh38]
Chr2:179915121 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.2395-48T>C single nucleotide variant not provided [RCV001680521] Chr2:178868253 [GRCh38]
Chr2:179732980 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.1521A>C (p.Gln507His) single nucleotide variant CCDC141-related condition [RCV003935828]|Hypogonadotropic hypogonadism 7 with or without anosmia [RCV002502954]|not provided [RCV000954237] Chr2:178886758 [GRCh38]
Chr2:179751485 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.4369G>A (p.Val1457Ile) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV002505423]|not provided [RCV000953683] Chr2:178834397 [GRCh38]
Chr2:179699124 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.3303T>C (p.Leu1101=) single nucleotide variant not provided [RCV000938863] Chr2:178850103 [GRCh38]
Chr2:179714830 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.1093-7T>G single nucleotide variant not provided [RCV000933578] Chr2:178905508 [GRCh38]
Chr2:179770235 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.2119C>T (p.Pro707Ser) single nucleotide variant not provided [RCV000913385] Chr2:178871513 [GRCh38]
Chr2:179736240 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.2614C>G (p.Leu872Val) single nucleotide variant CCDC141-related condition [RCV003958339]|not provided [RCV000912908] Chr2:178865877 [GRCh38]
Chr2:179730604 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.1402C>T (p.Arg468Trp) single nucleotide variant CCDC141-related condition [RCV003902898]|not provided [RCV000911855] Chr2:178888532 [GRCh38]
Chr2:179753259 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.29C>T (p.Ala10Val) single nucleotide variant not provided [RCV001688791] Chr2:179049913 [GRCh38]
Chr2:179914640 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.2817G>A (p.Ala939=) single nucleotide variant not provided [RCV001669530] Chr2:178856305 [GRCh38]
Chr2:179721032 [GRCh37]
Chr2:2q31.2		 benign
GRCh37/hg19 2q31.2(chr2:179773425-179889415)x1 copy number loss not provided [RCV002473632] Chr2:179773425..179889415 [GRCh37]
Chr2:2q31.2		 uncertain significance
GRCh37/hg19 2q31.2(chr2:179680732-179735141)x1 copy number loss not provided [RCV001005360] Chr2:179680732..179735141 [GRCh37]
Chr2:2q31.2		 uncertain significance
GRCh37/hg19 2q31.2(chr2:179752983-179843815)x1 copy number loss not provided [RCV001005362] Chr2:179752983..179843815 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.780+118del deletion not provided [RCV001596573] Chr2:178961112 [GRCh38]
Chr2:179825839 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.3244+35A>T single nucleotide variant not provided [RCV001639035] Chr2:178853406 [GRCh38]
Chr2:179718133 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.3357+101G>A single nucleotide variant not provided [RCV001655562] Chr2:178849948 [GRCh38]
Chr2:179714675 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.2395-79T>A single nucleotide variant not provided [RCV001674349] Chr2:178868284 [GRCh38]
Chr2:179733011 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.526+229G>T single nucleotide variant not provided [RCV001617167] Chr2:178974828 [GRCh38]
Chr2:179839555 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.527-31T>C single nucleotide variant not provided [RCV001661092] Chr2:178961514 [GRCh38]
Chr2:179826241 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.1719+239C>T single nucleotide variant not provided [RCV001710950] Chr2:178884662 [GRCh38]
Chr2:179749389 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.3358-237T>C single nucleotide variant not provided [RCV001687470] Chr2:178845979 [GRCh38]
Chr2:179710706 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.2574+228A>T single nucleotide variant not provided [RCV001671159] Chr2:178867798 [GRCh38]
Chr2:179732525 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.1720-165TAAA[3] microsatellite not provided [RCV001598961] Chr2:178878300..178878301 [GRCh38]
Chr2:179743027..179743028 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.1093-112T>C single nucleotide variant not provided [RCV001654416] Chr2:178905613 [GRCh38]
Chr2:179770340 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.1900-105G>T single nucleotide variant not provided [RCV001650075] Chr2:178872417 [GRCh38]
Chr2:179737144 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.898-62G>T single nucleotide variant not provided [RCV001679821] Chr2:178918969 [GRCh38]
Chr2:179783696 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.1146G>T (p.Glu382Asp) single nucleotide variant not provided [RCV001709448] Chr2:178905448 [GRCh38]
Chr2:179770175 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.4548C>T (p.Val1516=) single nucleotide variant not provided [RCV001684671] Chr2:178834218 [GRCh38]
Chr2:179698945 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.1719+127T>C single nucleotide variant not provided [RCV001672133] Chr2:178884774 [GRCh38]
Chr2:179749501 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.102+234dup duplication not provided [RCV001609071] Chr2:179049589..179049590 [GRCh38]
Chr2:179914316..179914317 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.1720-126T>C single nucleotide variant not provided [RCV001680228] Chr2:178878269 [GRCh38]
Chr2:179742996 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.1720-156T>A single nucleotide variant not provided [RCV001672262] Chr2:178878299 [GRCh38]
Chr2:179743026 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.2803C>T (p.Arg935Trp) single nucleotide variant not provided [RCV001612394] Chr2:178856319 [GRCh38]
Chr2:179721046 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.781-122G>A single nucleotide variant not provided [RCV001671702] Chr2:178944773 [GRCh38]
Chr2:179809500 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.2205+148A>C single nucleotide variant not provided [RCV001612518] Chr2:178871279 [GRCh38]
Chr2:179736006 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.1407+309G>A single nucleotide variant not provided [RCV001679315] Chr2:178888218 [GRCh38]
Chr2:179752945 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.2574+117A>G single nucleotide variant not provided [RCV001693045] Chr2:178867909 [GRCh38]
Chr2:179732636 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.1528-268A>G single nucleotide variant not provided [RCV001682589] Chr2:178885360 [GRCh38]
Chr2:179750087 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.2482C>T (p.Arg828Trp) single nucleotide variant not provided [RCV001642125] Chr2:178868118 [GRCh38]
Chr2:179732845 [GRCh37]
Chr2:2q31.2		 benign
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3		 pathogenic
NM_173648.4(CCDC141):c.187C>T (p.Leu63Phe) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001328761] Chr2:179047322 [GRCh38]
Chr2:179912049 [GRCh37]
Chr2:2q31.2		 uncertain significance
GRCh37/hg19 2q31.1-31.3(chr2:171999572-182774361) copy number loss 3-4 finger syndactyly [RCV001352646] Chr2:171999572..182774361 [GRCh37]
Chr2:2q31.1-31.3		 pathogenic
NM_173648.4(CCDC141):c.1528-166_1528-165dup duplication not provided [RCV001670618] Chr2:178885244..178885245 [GRCh38]
Chr2:179749971..179749972 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.3678T>C (p.Pro1226=) single nucleotide variant not provided [RCV001679508] Chr2:178837541 [GRCh38]
Chr2:179702268 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.781-185G>A single nucleotide variant not provided [RCV001648807] Chr2:178944836 [GRCh38]
Chr2:179809563 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.2725-148AG[6] microsatellite not provided [RCV001669827] Chr2:178856537..178856538 [GRCh38]
Chr2:179721264..179721265 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.418-70A>G single nucleotide variant not provided [RCV001688556] Chr2:178975235 [GRCh38]
Chr2:179839962 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.226-210C>T single nucleotide variant not provided [RCV001653392] Chr2:178978885 [GRCh38]
Chr2:179843612 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.477T>C (p.Ser159=) single nucleotide variant not provided [RCV001618741] Chr2:178975106 [GRCh38]
Chr2:179839833 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.*304C>T single nucleotide variant not provided [RCV001616634] Chr2:178833869 [GRCh38]
Chr2:179698596 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.1719+296G>A single nucleotide variant not provided [RCV001688005] Chr2:178884605 [GRCh38]
Chr2:179749332 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.102+220T>C single nucleotide variant not provided [RCV001688121] Chr2:179049620 [GRCh38]
Chr2:179914347 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.2079+286T>C single nucleotide variant not provided [RCV001666232] Chr2:178871847 [GRCh38]
Chr2:179736574 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.3358-81G>C single nucleotide variant not provided [RCV001679146] Chr2:178845823 [GRCh38]
Chr2:179710550 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.110A>T (p.Lys37Ile) single nucleotide variant not specified [RCV004157923] Chr2:179047399 [GRCh38]
Chr2:179912126 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.2496A>G (p.Glu832=) single nucleotide variant not provided [RCV001816279] Chr2:178868104 [GRCh38]
Chr2:179732831 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.3571G>A (p.Val1191Ile) single nucleotide variant not provided [RCV002045645] Chr2:178837648 [GRCh38]
Chr2:179702375 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.2411A>G (p.Lys804Arg) single nucleotide variant not provided [RCV001984632]|not specified [RCV004042135] Chr2:178868189 [GRCh38]
Chr2:179732916 [GRCh37]
Chr2:2q31.2		 likely benign|uncertain significance
NM_173648.4(CCDC141):c.4496C>G (p.Thr1499Arg) single nucleotide variant not provided [RCV001984859] Chr2:178834270 [GRCh38]
Chr2:179698997 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.1093-2A>G single nucleotide variant not provided [RCV002040813] Chr2:178905503 [GRCh38]
Chr2:179770230 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.4347G>T (p.Leu1449Phe) single nucleotide variant not provided [RCV002042548]|not specified [RCV004045979] Chr2:178834419 [GRCh38]
Chr2:179699146 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.2302C>T (p.Leu768Phe) single nucleotide variant not provided [RCV001928229] Chr2:178869209 [GRCh38]
Chr2:179733936 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.3293_3294del (p.Lys1098fs) deletion not provided [RCV001909990] Chr2:178850112..178850113 [GRCh38]
Chr2:179714839..179714840 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.4312C>T (p.Pro1438Ser) single nucleotide variant Hypogonadotropic hypogonadism [RCV001837178] Chr2:178836907 [GRCh38]
Chr2:179701634 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.538C>T (p.Arg180Trp) single nucleotide variant Hypogonadotropic hypogonadism [RCV001837179]|not specified [RCV004041017] Chr2:178961472 [GRCh38]
Chr2:179826199 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.2724+5G>A single nucleotide variant not provided [RCV002023940] Chr2:178865762 [GRCh38]
Chr2:179730489 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.646A>G (p.Ser216Gly) single nucleotide variant not provided [RCV001908550] Chr2:178961364 [GRCh38]
Chr2:179826091 [GRCh37]
Chr2:2q31.2		 uncertain significance
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436) copy number gain not specified [RCV002053265] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35		 pathogenic
NM_173648.4(CCDC141):c.1802A>T (p.His601Leu) single nucleotide variant not provided [RCV001883189] Chr2:178878061 [GRCh38]
Chr2:179742788 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.2347G>A (p.Glu783Lys) single nucleotide variant not provided [RCV002011823] Chr2:178869164 [GRCh38]
Chr2:179733891 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.2672G>A (p.Arg891Gln) single nucleotide variant not provided [RCV001937557] Chr2:178865819 [GRCh38]
Chr2:179730546 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.2862G>T (p.Met954Ile) single nucleotide variant not provided [RCV001957112] Chr2:178856260 [GRCh38]
Chr2:179720987 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.4499G>T (p.Gly1500Val) single nucleotide variant not provided [RCV001924182]|not specified [RCV004044253] Chr2:178834267 [GRCh38]
Chr2:179698994 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.430del (p.Lys143_Ile144insTer) deletion not provided [RCV001907315] Chr2:178975153 [GRCh38]
Chr2:179839880 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.3782C>T (p.Ala1261Val) single nucleotide variant not provided [RCV001979463]|not specified [RCV004044574] Chr2:178837437 [GRCh38]
Chr2:179702164 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.1059G>C (p.Lys353Asn) single nucleotide variant not provided [RCV002165077]|not specified [RCV004045012] Chr2:178918746 [GRCh38]
Chr2:179783473 [GRCh37]
Chr2:2q31.2		 likely benign|uncertain significance
NM_173648.4(CCDC141):c.422C>T (p.Ala141Val) single nucleotide variant not provided [RCV002190019] Chr2:178975161 [GRCh38]
Chr2:179839888 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.553T>C (p.Leu185=) single nucleotide variant not provided [RCV002195946] Chr2:178961457 [GRCh38]
Chr2:179826184 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.1461T>C (p.Val487=) single nucleotide variant not provided [RCV002121217] Chr2:178886818 [GRCh38]
Chr2:179751545 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.2592T>C (p.Ser864=) single nucleotide variant not provided [RCV002180090] Chr2:178865899 [GRCh38]
Chr2:179730626 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.2310C>T (p.His770=) single nucleotide variant not provided [RCV002155835] Chr2:178869201 [GRCh38]
Chr2:179733928 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.1512A>C (p.Leu504=) single nucleotide variant CCDC141-related condition [RCV003958552]|not provided [RCV002200323] Chr2:178886767 [GRCh38]
Chr2:179751494 [GRCh37]
Chr2:2q31.2		 likely benign
NC_000002.11:g.(?_178095513)_(179914668_?)del deletion not provided [RCV003113300] Chr2:178095513..179914668 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.2183A>G (p.Asn728Ser) single nucleotide variant not provided [RCV003118274] Chr2:178871449 [GRCh38]
Chr2:179736176 [GRCh37]
Chr2:2q31.2		 uncertain significance
NC_000002.11:g.(?_178095513)_(179914668_?)dup duplication not provided [RCV003116536] Chr2:178095513..179914668 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.2205+9A>C single nucleotide variant not provided [RCV003121905] Chr2:178871418 [GRCh38]
Chr2:179736145 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.3598A>G (p.Met1200Val) single nucleotide variant not specified [RCV004281710] Chr2:178837621 [GRCh38]
Chr2:179702348 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.195T>G (p.His65Gln) single nucleotide variant not specified [RCV004307793] Chr2:179047314 [GRCh38]
Chr2:179912041 [GRCh37]
Chr2:2q31.2		 uncertain significance
GRCh37/hg19 2q31.1-31.3(chr2:175143352-180999636)x1 copy number loss not provided [RCV002474570] Chr2:175143352..180999636 [GRCh37]
Chr2:2q31.1-31.3		 pathogenic
NM_173648.4(CCDC141):c.2648G>A (p.Arg883His) single nucleotide variant not specified [RCV004202515] Chr2:178865843 [GRCh38]
Chr2:179730570 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.3822T>A (p.Asp1274Glu) single nucleotide variant not provided [RCV003073700] Chr2:178837397 [GRCh38]
Chr2:179702124 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.2676C>T (p.Thr892=) single nucleotide variant not provided [RCV002904277] Chr2:178865815 [GRCh38]
Chr2:179730542 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.2363A>C (p.Lys788Thr) single nucleotide variant not specified [RCV004170182] Chr2:178869148 [GRCh38]
Chr2:179733875 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.50G>A (p.Ser17Asn) single nucleotide variant not specified [RCV004247025] Chr2:179049892 [GRCh38]
Chr2:179914619 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.102+16C>T single nucleotide variant not provided [RCV002776093] Chr2:179049824 [GRCh38]
Chr2:179914551 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.2516A>G (p.His839Arg) single nucleotide variant not specified [RCV004076244] Chr2:178868084 [GRCh38]
Chr2:179732811 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.913G>A (p.Val305Ile) single nucleotide variant not specified [RCV004119411] Chr2:178918892 [GRCh38]
Chr2:179783619 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.2536T>C (p.Ser846Pro) single nucleotide variant not provided [RCV002616721] Chr2:178868064 [GRCh38]
Chr2:179732791 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.1631C>T (p.Ala544Val) single nucleotide variant not specified [RCV004136838] Chr2:178884989 [GRCh38]
Chr2:179749716 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.2300A>G (p.Asp767Gly) single nucleotide variant not provided [RCV002938474]|not specified [RCV004067099] Chr2:178869211 [GRCh38]
Chr2:179733938 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.2368G>C (p.Val790Leu) single nucleotide variant not provided [RCV003548955]|not specified [RCV004217250] Chr2:178869143 [GRCh38]
Chr2:179733870 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.705C>G (p.Asp235Glu) single nucleotide variant not provided [RCV002616358] Chr2:178961305 [GRCh38]
Chr2:179826032 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.2902A>G (p.Thr968Ala) single nucleotide variant not provided [RCV002889140] Chr2:178855505 [GRCh38]
Chr2:179720232 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.2780A>G (p.Tyr927Cys) single nucleotide variant not specified [RCV004075757] Chr2:178856342 [GRCh38]
Chr2:179721069 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.2713G>A (p.Glu905Lys) single nucleotide variant not provided [RCV002928137]|not specified [RCV004067046] Chr2:178865778 [GRCh38]
Chr2:179730505 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.1381G>A (p.Ala461Thr) single nucleotide variant not provided [RCV002820709] Chr2:178888553 [GRCh38]
Chr2:179753280 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.2268C>T (p.Ala756=) single nucleotide variant not provided [RCV002912603] Chr2:178869243 [GRCh38]
Chr2:179733970 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.2129C>T (p.Ala710Val) single nucleotide variant not provided [RCV003002059] Chr2:178871503 [GRCh38]
Chr2:179736230 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.2266G>T (p.Ala756Ser) single nucleotide variant not provided [RCV002912605] Chr2:178869245 [GRCh38]
Chr2:179733972 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.2777A>T (p.Asn926Ile) single nucleotide variant not provided [RCV002999335] Chr2:178856345 [GRCh38]
Chr2:179721072 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.1246A>G (p.Ser416Gly) single nucleotide variant not specified [RCV004035381] Chr2:178905348 [GRCh38]
Chr2:179770075 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.3191C>T (p.Pro1064Leu) single nucleotide variant not provided [RCV002952834] Chr2:178853494 [GRCh38]
Chr2:179718221 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.1613C>A (p.Ser538Tyr) single nucleotide variant not specified [RCV004080596] Chr2:178885007 [GRCh38]
Chr2:179749734 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.967G>A (p.Glu323Lys) single nucleotide variant not specified [RCV004158031] Chr2:178918838 [GRCh38]
Chr2:179783565 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.2483G>A (p.Arg828Gln) single nucleotide variant not specified [RCV004101067] Chr2:178868117 [GRCh38]
Chr2:179732844 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.4055A>T (p.Asp1352Val) single nucleotide variant not provided [RCV002876526] Chr2:178837164 [GRCh38]
Chr2:179701891 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.684A>C (p.Gln228His) single nucleotide variant not specified [RCV004185104] Chr2:178961326 [GRCh38]
Chr2:179826053 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.2948T>C (p.Leu983Pro) single nucleotide variant not provided [RCV003085696] Chr2:178855459 [GRCh38]
Chr2:179720186 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.262G>A (p.Ala88Thr) single nucleotide variant not provided [RCV003084323] Chr2:178978639 [GRCh38]
Chr2:179843366 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.3821A>T (p.Asp1274Val) single nucleotide variant not specified [RCV004125360] Chr2:178837398 [GRCh38]
Chr2:179702125 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.179C>T (p.Thr60Ile) single nucleotide variant not specified [RCV004143466] Chr2:179047330 [GRCh38]
Chr2:179912057 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.2745T>C (p.Asp915=) single nucleotide variant not provided [RCV002801379] Chr2:178856377 [GRCh38]
Chr2:179721104 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.2005G>A (p.Ala669Thr) single nucleotide variant not specified [RCV004126872] Chr2:178872207 [GRCh38]
Chr2:179736934 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.4243C>G (p.Leu1415Val) single nucleotide variant not provided [RCV002932616] Chr2:178836976 [GRCh38]
Chr2:179701703 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.2710G>A (p.Asp904Asn) single nucleotide variant not provided [RCV003084456] Chr2:178865781 [GRCh38]
Chr2:179730508 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.1154G>A (p.Ser385Asn) single nucleotide variant not specified [RCV004097924] Chr2:178905440 [GRCh38]
Chr2:179770167 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.681A>G (p.Leu227=) single nucleotide variant not provided [RCV002602674] Chr2:178961329 [GRCh38]
Chr2:179826056 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.4351G>C (p.Ala1451Pro) single nucleotide variant not specified [RCV004083797] Chr2:178834415 [GRCh38]
Chr2:179699142 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.2069A>T (p.Gln690Leu) single nucleotide variant not specified [RCV004092315] Chr2:178872143 [GRCh38]
Chr2:179736870 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.2861T>C (p.Met954Thr) single nucleotide variant not specified [RCV004125754] Chr2:178856261 [GRCh38]
Chr2:179720988 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.4497A>G (p.Thr1499=) single nucleotide variant not provided [RCV002857188] Chr2:178834269 [GRCh38]
Chr2:179698996 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.752T>G (p.Ile251Arg) single nucleotide variant not provided [RCV002898701] Chr2:178961258 [GRCh38]
Chr2:179825985 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.2626G>A (p.Glu876Lys) single nucleotide variant not provided [RCV002962696]|not specified [RCV004068298] Chr2:178865865 [GRCh38]
Chr2:179730592 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.4018G>A (p.Gly1340Ser) single nucleotide variant not specified [RCV004182789] Chr2:178837201 [GRCh38]
Chr2:179701928 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.4426G>A (p.Ala1476Thr) single nucleotide variant not provided [RCV003090360] Chr2:178834340 [GRCh38]
Chr2:179699067 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.2004G>A (p.Leu668=) single nucleotide variant not provided [RCV002966361] Chr2:178872208 [GRCh38]
Chr2:179736935 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.1831C>T (p.Gln611Ter) single nucleotide variant not provided [RCV002857190] Chr2:178878032 [GRCh38]
Chr2:179742759 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.3104T>A (p.Val1035Asp) single nucleotide variant not specified [RCV004178870] Chr2:178853581 [GRCh38]
Chr2:179718308 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.85G>A (p.Val29Ile) single nucleotide variant not specified [RCV004170611] Chr2:179049857 [GRCh38]
Chr2:179914584 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.830T>G (p.Leu277Arg) single nucleotide variant not provided [RCV002676717] Chr2:178944602 [GRCh38]
Chr2:179809329 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.3076G>A (p.Glu1026Lys) single nucleotide variant not provided [RCV002943931] Chr2:178853609 [GRCh38]
Chr2:179718336 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.4586C>G (p.Thr1529Arg) single nucleotide variant not specified [RCV004105469] Chr2:178834180 [GRCh38]
Chr2:179698907 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.2542G>A (p.Gly848Arg) single nucleotide variant not provided [RCV003069641]|not specified [RCV004071860] Chr2:178868058 [GRCh38]
Chr2:179732785 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.1293G>C (p.Met431Ile) single nucleotide variant not specified [RCV004078261] Chr2:178888641 [GRCh38]
Chr2:179753368 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.1720-3T>C single nucleotide variant not provided [RCV003071634] Chr2:178878146 [GRCh38]
Chr2:179742873 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.599G>T (p.Cys200Phe) single nucleotide variant not provided [RCV002608810] Chr2:178961411 [GRCh38]
Chr2:179826138 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.2701G>A (p.Ala901Thr) single nucleotide variant not provided [RCV002943932] Chr2:178865790 [GRCh38]
Chr2:179730517 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.897+8A>T single nucleotide variant not provided [RCV002588294] Chr2:178944527 [GRCh38]
Chr2:179809254 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.4107C>T (p.Phe1369=) single nucleotide variant not provided [RCV002589880] Chr2:178837112 [GRCh38]
Chr2:179701839 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.2116A>G (p.Met706Val) single nucleotide variant not specified [RCV004325113] Chr2:178871516 [GRCh38]
Chr2:179736243 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.4133C>T (p.Thr1378Ile) single nucleotide variant not specified [RCV004264196] Chr2:178837086 [GRCh38]
Chr2:179701813 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.4166G>A (p.Arg1389Gln) single nucleotide variant not specified [RCV004264176] Chr2:178837053 [GRCh38]
Chr2:179701780 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.4411G>A (p.Val1471Ile) single nucleotide variant not specified [RCV004315161] Chr2:178834355 [GRCh38]
Chr2:179699082 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.1394G>C (p.Gly465Ala) single nucleotide variant not provided [RCV003561264]|not specified [RCV004288347] Chr2:178888540 [GRCh38]
Chr2:179753267 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.3509A>G (p.Asn1170Ser) single nucleotide variant not provided [RCV001689430] Chr2:178837710 [GRCh38]
Chr2:179702437 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.1621A>C (p.Arg541=) single nucleotide variant not provided [RCV000899814] Chr2:178884999 [GRCh38]
Chr2:179749726 [GRCh37]
Chr2:2q31.2		 likely benign
GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1 copy number loss not provided [RCV000848216] Chr2:167329586..192756373 [GRCh37]
Chr2:2q24.3-32.3		 pathogenic
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 copy number gain not provided [RCV001005349] Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34		 pathogenic
NM_173648.4(CCDC141):c.3125G>A (p.Cys1042Tyr) single nucleotide variant not specified [RCV004311526] Chr2:178853560 [GRCh38]
Chr2:179718287 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.1408-173C>T single nucleotide variant not provided [RCV001621032] Chr2:178887044 [GRCh38]
Chr2:179751771 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.3245-8C>T single nucleotide variant not provided [RCV000881069] Chr2:178850169 [GRCh38]
Chr2:179714896 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.1979G>A (p.Arg660Gln) single nucleotide variant Disorder of sexual differentiation [RCV001568334] Chr2:178872233 [GRCh38]
Chr2:179736960 [GRCh37]
Chr2:2q31.2		 uncertain significance
GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1 copy number loss 2q24 microdeletion syndrome [RCV001263223] Chr2:163078055..182119617 [GRCh37]
Chr2:2q24.2-31.3		 pathogenic
NM_173648.4(CCDC141):c.3060+108T>A single nucleotide variant not provided [RCV001595442] Chr2:178855239 [GRCh38]
Chr2:179719966 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.1720-157A>T single nucleotide variant not provided [RCV001686997] Chr2:178878300 [GRCh38]
Chr2:179743027 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.1407+270A>G single nucleotide variant not provided [RCV001616746] Chr2:178888257 [GRCh38]
Chr2:179752984 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.2725-230G>A single nucleotide variant not provided [RCV001533801] Chr2:178856627 [GRCh38]
Chr2:179721354 [GRCh37]
Chr2:2q31.2		 benign
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_173648.4(CCDC141):c.1266-154C>T single nucleotide variant not provided [RCV001539182] Chr2:178888822 [GRCh38]
Chr2:179753549 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.2395-65T>A single nucleotide variant not provided [RCV001688231] Chr2:178868270 [GRCh38]
Chr2:179732997 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.2205+142A>G single nucleotide variant not provided [RCV001668806] Chr2:178871285 [GRCh38]
Chr2:179736012 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.1062G>A (p.Lys354=) single nucleotide variant not provided [RCV001686777] Chr2:178918743 [GRCh38]
Chr2:179783470 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.3357+167_3357+170del microsatellite not provided [RCV001708465] Chr2:178849879..178849882 [GRCh38]
Chr2:179714606..179714609 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.418-249T>C single nucleotide variant not provided [RCV001674561] Chr2:178975414 [GRCh38]
Chr2:179840141 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.114G>T (p.Trp38Cys) single nucleotide variant not provided [RCV001927054]|not specified [RCV004044294] Chr2:179047395 [GRCh38]
Chr2:179912122 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.3850T>A (p.Ser1284Thr) single nucleotide variant not provided [RCV001926386] Chr2:178837369 [GRCh38]
Chr2:179702096 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.2341G>A (p.Asp781Asn) single nucleotide variant not provided [RCV001961906] Chr2:178869170 [GRCh38]
Chr2:179733897 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.690G>T (p.Arg230Ser) single nucleotide variant not provided [RCV002028476] Chr2:178961320 [GRCh38]
Chr2:179826047 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.3060+19G>T single nucleotide variant not provided [RCV002116333] Chr2:178855328 [GRCh38]
Chr2:179720055 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.20C>T (p.Pro7Leu) single nucleotide variant not provided [RCV002183324] Chr2:179049922 [GRCh38]
Chr2:179914649 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.2454_2457dup (p.Ala820Ter) duplication not provided [RCV002614155] Chr2:178868142..178868143 [GRCh38]
Chr2:179732869..179732870 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.2979T>A (p.His993Gln) single nucleotide variant not specified [RCV004110516] Chr2:178855428 [GRCh38]
Chr2:179720155 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.238C>T (p.Arg80Trp) single nucleotide variant not specified [RCV004156332] Chr2:178978663 [GRCh38]
Chr2:179843390 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.2637C>T (p.Ser879=) single nucleotide variant not provided [RCV002780523] Chr2:178865854 [GRCh38]
Chr2:179730581 [GRCh37]
Chr2:2q31.2		 likely benign|uncertain significance
NM_173648.4(CCDC141):c.161G>A (p.Gly54Asp) single nucleotide variant not specified [RCV004180144] Chr2:179047348 [GRCh38]
Chr2:179912075 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.1297G>C (p.Gly433Arg) single nucleotide variant not specified [RCV004211085] Chr2:178888637 [GRCh38]
Chr2:179753364 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.4444C>T (p.Arg1482Trp) single nucleotide variant not provided [RCV002606730]|not specified [RCV004069094] Chr2:178834322 [GRCh38]
Chr2:179699049 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.1627C>G (p.Leu543Val) single nucleotide variant not provided [RCV002932575] Chr2:178884993 [GRCh38]
Chr2:179749720 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.3474+17A>C single nucleotide variant not provided [RCV002585867] Chr2:178845609 [GRCh38]
Chr2:179710336 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.4460G>A (p.Ser1487Asn) single nucleotide variant not specified [RCV004258806] Chr2:178834306 [GRCh38]
Chr2:179699033 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.2467G>T (p.Val823Leu) single nucleotide variant not specified [RCV004256991] Chr2:178868133 [GRCh38]
Chr2:179732860 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.4011G>C (p.Gln1337His) single nucleotide variant not specified [RCV004260509] Chr2:178837208 [GRCh38]
Chr2:179701935 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.163A>T (p.Ser55Cys) single nucleotide variant not specified [RCV003320964] Chr2:179047346 [GRCh38]
Chr2:179912073 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.1330G>A (p.Glu444Lys) single nucleotide variant not specified [RCV004336983] Chr2:178888604 [GRCh38]
Chr2:179753331 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.860G>A (p.Arg287Gln) single nucleotide variant not provided [RCV003874480] Chr2:178944572 [GRCh38]
Chr2:179809299 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.2671C>T (p.Arg891Trp) single nucleotide variant CCDC141-related condition [RCV003400408] Chr2:178865820 [GRCh38]
Chr2:179730547 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.2606A>G (p.Gln869Arg) single nucleotide variant not provided [RCV003457087] Chr2:178865885 [GRCh38]
Chr2:179730612 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.41C>A (p.Thr14Lys) single nucleotide variant CCDC141-related condition [RCV003397682] Chr2:179049901 [GRCh38]
Chr2:179914628 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.1204G>C (p.Asp402His) single nucleotide variant CCDC141-related condition [RCV003406166] Chr2:178905390 [GRCh38]
Chr2:179770117 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.664C>T (p.Arg222Cys) single nucleotide variant not provided [RCV003546273] Chr2:178961346 [GRCh38]
Chr2:179826073 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.1131G>T (p.Lys377Asn) single nucleotide variant not provided [RCV003545147]|not specified [RCV004368996] Chr2:178905463 [GRCh38]
Chr2:179770190 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.329G>A (p.Gly110Asp) single nucleotide variant not provided [RCV003829774] Chr2:178978572 [GRCh38]
Chr2:179843299 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.102+12A>G single nucleotide variant not provided [RCV003881813] Chr2:179049828 [GRCh38]
Chr2:179914555 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.665G>A (p.Arg222His) single nucleotide variant CCDC141-related condition [RCV003909079]|not provided [RCV003695439] Chr2:178961345 [GRCh38]
Chr2:179826072 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.1600G>A (p.Val534Ile) single nucleotide variant CCDC141-related condition [RCV003946651]|not provided [RCV003545684] Chr2:178885020 [GRCh38]
Chr2:179749747 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.491A>T (p.Lys164Ile) single nucleotide variant not provided [RCV003832879] Chr2:178975092 [GRCh38]
Chr2:179839819 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.3948T>G (p.Ser1316Arg) single nucleotide variant not provided [RCV003716946] Chr2:178837271 [GRCh38]
Chr2:179701998 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.1726A>T (p.Met576Leu) single nucleotide variant not provided [RCV003812178] Chr2:178878137 [GRCh38]
Chr2:179742864 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.188TTC[1] (p.Leu64del) microsatellite not provided [RCV003717232] Chr2:179047316..179047318 [GRCh38]
Chr2:179912043..179912045 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.420T>C (p.Phe140=) single nucleotide variant not provided [RCV003838795] Chr2:178975163 [GRCh38]
Chr2:179839890 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.2766T>C (p.Asn922=) single nucleotide variant not provided [RCV003559756] Chr2:178856356 [GRCh38]
Chr2:179721083 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.3192G>A (p.Pro1064=) single nucleotide variant not provided [RCV003724583] Chr2:178853493 [GRCh38]
Chr2:179718220 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.569A>G (p.Gln190Arg) single nucleotide variant not provided [RCV003854335] Chr2:178961441 [GRCh38]
Chr2:179826168 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.3446A>C (p.Gln1149Pro) single nucleotide variant not provided [RCV003817577] Chr2:178845654 [GRCh38]
Chr2:179710381 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.335C>T (p.Ala112Val) single nucleotide variant not provided [RCV003837266] Chr2:178978566 [GRCh38]
Chr2:179843293 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.1528-10_1528-5del deletion not provided [RCV003668280] Chr2:178885097..178885102 [GRCh38]
Chr2:179749824..179749829 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.2679G>T (p.Leu893=) single nucleotide variant not provided [RCV003559284] Chr2:178865812 [GRCh38]
Chr2:179730539 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.3126C>T (p.Cys1042=) single nucleotide variant not provided [RCV003811556] Chr2:178853559 [GRCh38]
Chr2:179718286 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.2865+13T>C single nucleotide variant not provided [RCV003814842] Chr2:178856244 [GRCh38]
Chr2:179720971 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.1051T>A (p.Trp351Arg) single nucleotide variant not provided [RCV003731232] Chr2:178918754 [GRCh38]
Chr2:179783481 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.4486C>T (p.Leu1496Phe) single nucleotide variant not provided [RCV003858383] Chr2:178834280 [GRCh38]
Chr2:179699007 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.4437T>G (p.Tyr1479Ter) single nucleotide variant not provided [RCV003563368] Chr2:178834329 [GRCh38]
Chr2:179699056 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.59C>T (p.Ala20Val) single nucleotide variant not provided [RCV003711345] Chr2:179049883 [GRCh38]
Chr2:179914610 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.2688T>G (p.Ser896Arg) single nucleotide variant not provided [RCV003863234] Chr2:178865803 [GRCh38]
Chr2:179730530 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.3879G>A (p.Gln1293=) single nucleotide variant not provided [RCV003818752] Chr2:178837340 [GRCh38]
Chr2:179702067 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.1815G>A (p.Ser605=) single nucleotide variant not provided [RCV003734968] Chr2:178878048 [GRCh38]
Chr2:179742775 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.2804G>A (p.Arg935Gln) single nucleotide variant not provided [RCV003555744] Chr2:178856318 [GRCh38]
Chr2:179721045 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.2964G>C (p.Lys988Asn) single nucleotide variant not provided [RCV003553846] Chr2:178855443 [GRCh38]
Chr2:179720170 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.2718A>G (p.Ile906Met) single nucleotide variant not provided [RCV003734419] Chr2:178865773 [GRCh38]
Chr2:179730500 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.2673G>T (p.Arg891=) single nucleotide variant not provided [RCV003720520] Chr2:178865818 [GRCh38]
Chr2:179730545 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.1396del (p.Tyr466fs) deletion not provided [RCV003557043] Chr2:178888538 [GRCh38]
Chr2:179753265 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.1255G>A (p.Asp419Asn) single nucleotide variant not provided [RCV003863616] Chr2:178905339 [GRCh38]
Chr2:179770066 [GRCh37]
Chr2:2q31.2		 uncertain significance
GRCh37/hg19 2q31.2(chr2:179257725-180232128)x3 copy number gain not specified [RCV003986389] Chr2:179257725..180232128 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.2503G>A (p.Ala835Thr) single nucleotide variant not provided [RCV003867606] Chr2:178868097 [GRCh38]
Chr2:179732824 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.4462G>A (p.Gly1488Ser) single nucleotide variant not provided [RCV003552977] Chr2:178834304 [GRCh38]
Chr2:179699031 [GRCh37]
Chr2:2q31.2		 benign
NM_173648.4(CCDC141):c.2865+5del deletion not provided [RCV003679859] Chr2:178856252 [GRCh38]
Chr2:179720979 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.3751G>T (p.Val1251Leu) single nucleotide variant not provided [RCV003555840] Chr2:178837468 [GRCh38]
Chr2:179702195 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.3198A>G (p.Gln1066=) single nucleotide variant not provided [RCV003723166] Chr2:178853487 [GRCh38]
Chr2:179718214 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.1485_1486insTCT (p.Glu495_Lys496insSer) insertion not provided [RCV003868890] Chr2:178886793..178886794 [GRCh38]
Chr2:179751520..179751521 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.576T>C (p.Thr192=) single nucleotide variant not provided [RCV003863596] Chr2:178961434 [GRCh38]
Chr2:179826161 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.2597A>C (p.Lys866Thr) single nucleotide variant not provided [RCV003819458] Chr2:178865894 [GRCh38]
Chr2:179730621 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.121C>T (p.Leu41Phe) single nucleotide variant not provided [RCV003551673] Chr2:179047388 [GRCh38]
Chr2:179912115 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.2591C>T (p.Ser864Phe) single nucleotide variant CCDC141-related condition [RCV003981482] Chr2:178865900 [GRCh38]
Chr2:179730627 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.1012C>G (p.Gln338Glu) single nucleotide variant not specified [RCV004432780] Chr2:178918793 [GRCh38]
Chr2:179783520 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.2171G>A (p.Arg724Gln) single nucleotide variant not specified [RCV004432791] Chr2:178871461 [GRCh38]
Chr2:179736188 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.421G>C (p.Ala141Pro) single nucleotide variant not specified [RCV004432803] Chr2:178975162 [GRCh38]
Chr2:179839889 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.1154G>C (p.Ser385Thr) single nucleotide variant not specified [RCV004432783] Chr2:178905440 [GRCh38]
Chr2:179770167 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.1178A>G (p.His393Arg) single nucleotide variant not specified [RCV004432785] Chr2:178905416 [GRCh38]
Chr2:179770143 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.3449C>A (p.Thr1150Lys) single nucleotide variant not specified [RCV004432796] Chr2:178845651 [GRCh38]
Chr2:179710378 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.4201G>A (p.Val1401Met) single nucleotide variant not specified [RCV004432801] Chr2:178837018 [GRCh38]
Chr2:179701745 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.784A>G (p.Thr262Ala) single nucleotide variant not specified [RCV004432808] Chr2:178944648 [GRCh38]
Chr2:179809375 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.541T>C (p.Ser181Pro) single nucleotide variant not specified [RCV004432807] Chr2:178961469 [GRCh38]
Chr2:179826196 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.2088C>A (p.His696Gln) single nucleotide variant not specified [RCV004432790] Chr2:178871544 [GRCh38]
Chr2:179736271 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.3527G>A (p.Arg1176Gln) single nucleotide variant not specified [RCV004432797] Chr2:178837692 [GRCh38]
Chr2:179702419 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.3787G>C (p.Glu1263Gln) single nucleotide variant not specified [RCV004432799] Chr2:178837432 [GRCh38]
Chr2:179702159 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.4389G>T (p.Arg1463Ser) single nucleotide variant not specified [RCV004432806] Chr2:178834377 [GRCh38]
Chr2:179699104 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.904A>C (p.Asn302His) single nucleotide variant not specified [RCV004432809] Chr2:178918901 [GRCh38]
Chr2:179783628 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.4295T>A (p.Val1432Glu) single nucleotide variant not specified [RCV004432804] Chr2:178836924 [GRCh38]
Chr2:179701651 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.2712C>G (p.Asp904Glu) single nucleotide variant not specified [RCV004263188] Chr2:178865779 [GRCh38]
Chr2:179730506 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.3128A>G (p.Lys1043Arg) single nucleotide variant not specified [RCV004361076] Chr2:178853557 [GRCh38]
Chr2:179718284 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.46G>A (p.Val16Ile) single nucleotide variant CCDC141-related condition [RCV003416795] Chr2:179049896 [GRCh38]
Chr2:179914623 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.780+6C>A single nucleotide variant not provided [RCV003740292] Chr2:178961224 [GRCh38]
Chr2:179825951 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.3321del (p.Leu1107fs) deletion not provided [RCV003546191] Chr2:178850085 [GRCh38]
Chr2:179714812 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.4174A>T (p.Ile1392Phe) single nucleotide variant not provided [RCV003716397] Chr2:178837045 [GRCh38]
Chr2:179701772 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.4256C>T (p.Thr1419Ile) single nucleotide variant not provided [RCV003827858] Chr2:178836963 [GRCh38]
Chr2:179701690 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.3412dup (p.Ile1138fs) duplication not provided [RCV003546178] Chr2:178845687..178845688 [GRCh38]
Chr2:179710414..179710415 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.2188A>G (p.Met730Val) single nucleotide variant not provided [RCV003581038] Chr2:178871444 [GRCh38]
Chr2:179736171 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.3526C>T (p.Arg1176Ter) single nucleotide variant not provided [RCV003550557] Chr2:178837693 [GRCh38]
Chr2:179702420 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.4383G>A (p.Glu1461=) single nucleotide variant not provided [RCV003846200] Chr2:178834383 [GRCh38]
Chr2:179699110 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.1048A>G (p.Thr350Ala) single nucleotide variant not specified [RCV004432781] Chr2:178918757 [GRCh38]
Chr2:179783484 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.1472G>A (p.Arg491His) single nucleotide variant not specified [RCV004432786] Chr2:178886807 [GRCh38]
Chr2:179751534 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.1496A>G (p.Asn499Ser) single nucleotide variant not specified [RCV004432788] Chr2:178886783 [GRCh38]
Chr2:179751510 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.2213A>G (p.Asn738Ser) single nucleotide variant not specified [RCV004432793] Chr2:178869298 [GRCh38]
Chr2:179734025 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.3601C>G (p.Leu1201Val) single nucleotide variant not specified [RCV004432798] Chr2:178837618 [GRCh38]
Chr2:179702345 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.4088A>G (p.His1363Arg) single nucleotide variant not specified [RCV004432800] Chr2:178837131 [GRCh38]
Chr2:179701858 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.4384A>T (p.Thr1462Ser) single nucleotide variant not specified [RCV004432805] Chr2:178834382 [GRCh38]
Chr2:179699109 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.115G>A (p.Val39Ile) single nucleotide variant not specified [RCV004432784] Chr2:179047394 [GRCh38]
Chr2:179912121 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.1472G>T (p.Arg491Leu) single nucleotide variant not specified [RCV004432787] Chr2:178886807 [GRCh38]
Chr2:179751534 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.1644C>A (p.Asn548Lys) single nucleotide variant not specified [RCV004432789] Chr2:178884976 [GRCh38]
Chr2:179749703 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.218A>G (p.Lys73Arg) single nucleotide variant not specified [RCV004432792] Chr2:179047291 [GRCh38]
Chr2:179912018 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_173648.4(CCDC141):c.2316T>A (p.His772Gln) single nucleotide variant not specified [RCV004432794] Chr2:178869195 [GRCh38]
Chr2:179733922 [GRCh37]
Chr2:2q31.2		 likely benign
NM_173648.4(CCDC141):c.2523C>G (p.His841Gln) single nucleotide variant not specified [RCV004432795] Chr2:178868077 [GRCh38]
Chr2:179732804 [GRCh37]
Chr2:2q31.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4336
Count of miRNA genes:1332
Interacting mature miRNAs:1707
Transcripts:ENST00000295723, ENST00000343876, ENST00000409284, ENST00000420890, ENST00000443758, ENST00000446116, ENST00000472828, ENST00000480419, ENST00000498142
Prediction methods: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.

Markers in Region
D2S2804  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372179,842,843 - 179,842,959UniSTSGRCh37
Build 362179,551,088 - 179,551,204RGDNCBI36
Celera2173,437,238 - 173,437,354RGD
Cytogenetic Map2q31.2UniSTS
HuRef2171,710,961 - 171,711,077UniSTS
Stanford-G3 RH Map27487.0UniSTS
NCBI RH Map21417.7UniSTS
SHGC-147067  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372179,724,566 - 179,724,837UniSTSGRCh37
Build 362179,432,811 - 179,433,082RGDNCBI36
Celera2173,318,959 - 173,319,230RGD
Cytogenetic Map2q31.2UniSTS
HuRef2171,592,688 - 171,592,959UniSTS
TNG Radiation Hybrid Map298299.0UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1 166 3 49 2 107 1 6 2
Low 110 1001 205 16 659 14 895 829 118 35 457 467 5 1 328 610 5 2
Below cutoff 2180 1759 1360 482 1113 321 3376 1222 3510 243 829 919 163 876 2169 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001316745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_173648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC023270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK129847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC087856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC108697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC115378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX649042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000343876   ⟹   ENSP00000344627
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2178,835,756 - 178,884,951 (-)Ensembl
RefSeq Acc Id: ENST00000409284   ⟹   ENSP00000386503
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2178,873,021 - 179,050,059 (-)Ensembl
RefSeq Acc Id: ENST00000443758   ⟹   ENSP00000390190
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2178,829,757 - 179,050,137 (-)Ensembl
RefSeq Acc Id: ENST00000446116   ⟹   ENSP00000388745
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2178,872,133 - 179,050,086 (-)Ensembl
RefSeq Acc Id: ENST00000472828
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2178,830,269 - 178,837,137 (-)Ensembl
RefSeq Acc Id: ENST00000498142
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2178,915,751 - 178,926,665 (-)Ensembl
RefSeq Acc Id: NM_001316745   ⟹   NP_001303674
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382178,873,021 - 179,050,137 (-)NCBI
CHM1_12179,743,825 - 179,920,951 (-)NCBI
T2T-CHM13v2.02179,356,107 - 179,533,308 (-)NCBI
Sequence:
RefSeq Acc Id: NM_173648   ⟹   NP_775919
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382178,829,757 - 179,050,137 (-)NCBI
GRCh372179,694,484 - 179,914,841 (-)NCBI
Build 362179,408,737 - 179,457,923 (-)NCBI Archive
Celera2173,288,863 - 173,509,183 (-)RGD
HuRef2171,562,469 - 171,783,448 (-)RGD
CHM1_12179,700,551 - 179,920,951 (-)NCBI
T2T-CHM13v2.02179,312,824 - 179,533,308 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510991   ⟹   XP_011509293
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382178,829,757 - 179,050,137 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510992   ⟹   XP_011509294
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382178,826,755 - 179,050,137 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047443983   ⟹   XP_047299939
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382178,826,755 - 179,050,137 (-)NCBI
RefSeq Acc Id: XM_047443984   ⟹   XP_047299940
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382178,829,757 - 179,050,137 (-)NCBI
RefSeq Acc Id: XM_047443985   ⟹   XP_047299941
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382178,814,978 - 179,050,137 (-)NCBI
RefSeq Acc Id: XM_047443986   ⟹   XP_047299942
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382178,814,978 - 179,050,137 (-)NCBI
RefSeq Acc Id: XM_047443987   ⟹   XP_047299943
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382178,829,757 - 179,050,137 (-)NCBI
RefSeq Acc Id: XM_047443988   ⟹   XP_047299944
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382178,814,978 - 179,050,137 (-)NCBI
RefSeq Acc Id: XM_047443989   ⟹   XP_047299945
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382178,814,979 - 179,050,137 (-)NCBI
RefSeq Acc Id: XM_047443990   ⟹   XP_047299946
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382178,826,755 - 179,050,137 (-)NCBI
RefSeq Acc Id: XM_047443991   ⟹   XP_047299947
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382178,829,757 - 179,050,137 (-)NCBI
RefSeq Acc Id: XM_047443992   ⟹   XP_047299948
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382178,814,979 - 179,050,137 (-)NCBI
RefSeq Acc Id: XM_047443993   ⟹   XP_047299949
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382178,814,978 - 179,050,137 (-)NCBI
RefSeq Acc Id: XM_047443994   ⟹   XP_047299950
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382178,814,978 - 179,050,137 (-)NCBI
RefSeq Acc Id: XM_047443995   ⟹   XP_047299951
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382178,826,755 - 179,050,137 (-)NCBI
RefSeq Acc Id: XM_047443996   ⟹   XP_047299952
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382178,814,978 - 179,050,137 (-)NCBI
RefSeq Acc Id: XM_047443997   ⟹   XP_047299953
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382178,826,755 - 179,050,137 (-)NCBI
RefSeq Acc Id: XM_047443998   ⟹   XP_047299954
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382178,814,978 - 179,050,137 (-)NCBI
RefSeq Acc Id: XM_054341485   ⟹   XP_054197460
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02179,298,043 - 179,533,308 (-)NCBI
RefSeq Acc Id: XM_054341486   ⟹   XP_054197461
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02179,298,043 - 179,533,308 (-)NCBI
RefSeq Acc Id: XM_054341487   ⟹   XP_054197462
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02179,312,824 - 179,533,308 (-)NCBI
RefSeq Acc Id: XM_054341488   ⟹   XP_054197463
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02179,312,824 - 179,533,308 (-)NCBI
RefSeq Acc Id: XM_054341489   ⟹   XP_054197464
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02179,312,824 - 179,533,308 (-)NCBI
RefSeq Acc Id: XM_054341490   ⟹   XP_054197465
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02179,298,043 - 179,533,308 (-)NCBI
RefSeq Acc Id: XM_054341491   ⟹   XP_054197466
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02179,298,044 - 179,533,308 (-)NCBI
RefSeq Acc Id: XM_054341492   ⟹   XP_054197467
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02179,298,041 - 179,533,308 (-)NCBI
RefSeq Acc Id: XM_054341493   ⟹   XP_054197468
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02179,312,824 - 179,533,308 (-)NCBI
RefSeq Acc Id: XM_054341494   ⟹   XP_054197469
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02179,298,044 - 179,533,308 (-)NCBI
RefSeq Acc Id: XM_054341495   ⟹   XP_054197470
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02179,298,043 - 179,533,308 (-)NCBI
RefSeq Acc Id: XM_054341496   ⟹   XP_054197471
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02179,298,043 - 179,533,308 (-)NCBI
RefSeq Acc Id: XM_054341497   ⟹   XP_054197472
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02179,298,041 - 179,533,308 (-)NCBI
RefSeq Acc Id: XM_054341498   ⟹   XP_054197473
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02179,298,043 - 179,533,308 (-)NCBI
RefSeq Acc Id: XM_054341499   ⟹   XP_054197474
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02179,312,824 - 179,533,308 (-)NCBI
RefSeq Acc Id: XM_054341500   ⟹   XP_054197475
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02179,298,043 - 179,533,308 (-)NCBI
RefSeq Acc Id: XM_054341501   ⟹   XP_054197476
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02179,312,824 - 179,398,793 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001303674 (Get FASTA)   NCBI Sequence Viewer  
  NP_775919 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509293 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509294 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299939 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299940 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299941 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299942 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299943 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299944 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299945 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299946 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299947 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299948 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299949 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299950 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299951 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299952 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299953 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299954 (Get FASTA)   NCBI Sequence Viewer  
  XP_054197460 (Get FASTA)   NCBI Sequence Viewer  
  XP_054197461 (Get FASTA)   NCBI Sequence Viewer  
  XP_054197462 (Get FASTA)   NCBI Sequence Viewer  
  XP_054197463 (Get FASTA)   NCBI Sequence Viewer  
  XP_054197464 (Get FASTA)   NCBI Sequence Viewer  
  XP_054197465 (Get FASTA)   NCBI Sequence Viewer  
  XP_054197466 (Get FASTA)   NCBI Sequence Viewer  
  XP_054197467 (Get FASTA)   NCBI Sequence Viewer  
  XP_054197468 (Get FASTA)   NCBI Sequence Viewer  
  XP_054197469 (Get FASTA)   NCBI Sequence Viewer  
  XP_054197470 (Get FASTA)   NCBI Sequence Viewer  
  XP_054197471 (Get FASTA)   NCBI Sequence Viewer  
  XP_054197472 (Get FASTA)   NCBI Sequence Viewer  
  XP_054197473 (Get FASTA)   NCBI Sequence Viewer  
  XP_054197474 (Get FASTA)   NCBI Sequence Viewer  
  XP_054197475 (Get FASTA)   NCBI Sequence Viewer  
  XP_054197476 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI08698 (Get FASTA)   NCBI Sequence Viewer  
  AAI15379 (Get FASTA)   NCBI Sequence Viewer  
  AAX88845 (Get FASTA)   NCBI Sequence Viewer  
  BAC04869 (Get FASTA)   NCBI Sequence Viewer  
  BAC85242 (Get FASTA)   NCBI Sequence Viewer  
  EAX11011 (Get FASTA)   NCBI Sequence Viewer  
  EAX11012 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000344627.2
  ENSP00000386503
  ENSP00000386503.1
  ENSP00000388745.1
  ENSP00000390190
  ENSP00000390190.2
GenBank Protein Q6ZP82 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_775919   ⟸   NM_173648
- Peptide Label: isoform 1
- UniProtKB: Q8N8H3 (UniProtKB/Swiss-Prot),   J3KNW6 (UniProtKB/Swiss-Prot),   H7C0P1 (UniProtKB/Swiss-Prot),   Q6ZP82 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011509294   ⟸   XM_011510992
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011509293   ⟸   XM_011510991
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001303674   ⟸   NM_001316745
- Peptide Label: isoform 2
- UniProtKB: B8ZZB3 (UniProtKB/TrEMBL),   C9JR62 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000390190   ⟸   ENST00000443758
RefSeq Acc Id: ENSP00000388745   ⟸   ENST00000446116
RefSeq Acc Id: ENSP00000386503   ⟸   ENST00000409284
RefSeq Acc Id: ENSP00000344627   ⟸   ENST00000343876
RefSeq Acc Id: XP_047299954   ⟸   XM_047443998
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047299950   ⟸   XM_047443994
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047299949   ⟸   XM_047443993
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047299952   ⟸   XM_047443996
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047299944   ⟸   XM_047443988
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047299941   ⟸   XM_047443985
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047299942   ⟸   XM_047443986
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047299948   ⟸   XM_047443992
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047299945   ⟸   XM_047443989
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047299953   ⟸   XM_047443997
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047299951   ⟸   XM_047443995
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047299946   ⟸   XM_047443990
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047299939   ⟸   XM_047443983
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047299947   ⟸   XM_047443991
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047299943   ⟸   XM_047443987
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047299940   ⟸   XM_047443984
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054197472   ⟸   XM_054341497
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054197467   ⟸   XM_054341492
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054197475   ⟸   XM_054341500
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054197471   ⟸   XM_054341496
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054197470   ⟸   XM_054341495
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054197473   ⟸   XM_054341498
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054197465   ⟸   XM_054341490
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054197460   ⟸   XM_054341485
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054197461   ⟸   XM_054341486
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054197469   ⟸   XM_054341494
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054197466   ⟸   XM_054341491
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054197468   ⟸   XM_054341493
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054197474   ⟸   XM_054341499
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054197464   ⟸   XM_054341489
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054197462   ⟸   XM_054341487
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054197463   ⟸   XM_054341488
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054197476   ⟸   XM_054341501
- Peptide Label: isoform X14
Protein Domains
Ig-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6ZP82-F1-model_v2 AlphaFold Q6ZP82 1-1450 view protein structure

Promoters
RGD ID:6862194
Promoter ID:EPDNEW_H4262
Type:initiation region
Name:CCDC141_1
Description:coiled-coil domain containing 141
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4263  EPDNEW_H4264  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382179,050,059 - 179,050,119EPDNEW
RGD ID:6862196
Promoter ID:EPDNEW_H4263
Type:multiple initiation site
Name:CCDC141_3
Description:coiled-coil domain containing 141
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4262  EPDNEW_H4264  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382179,051,611 - 179,051,671EPDNEW
RGD ID:6862198
Promoter ID:EPDNEW_H4264
Type:single initiation site
Name:CCDC141_2
Description:coiled-coil domain containing 141
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4262  EPDNEW_H4263  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382179,057,034 - 179,057,094EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26821 AgrOrtholog
COSMIC CCDC141 COSMIC
Ensembl Genes ENSG00000163492 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000343876.6 UniProtKB/TrEMBL
  ENST00000409284 ENTREZGENE
  ENST00000409284.1 UniProtKB/TrEMBL
  ENST00000443758 ENTREZGENE
  ENST00000443758.7 UniProtKB/Swiss-Prot
  ENST00000446116.5 UniProtKB/TrEMBL
Gene3D-CATH 1.20.58.60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000163492 GTEx
HGNC ID HGNC:26821 ENTREZGENE
Human Proteome Map CCDC141 Human Proteome Map
InterPro Ig-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_I-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub UniProtKB/Swiss-Prot
  Ig_sub2 UniProtKB/Swiss-Prot
  Spectrin_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:285025 UniProtKB/Swiss-Prot
NCBI Gene 285025 ENTREZGENE
OMIM 616031 OMIM
PANTHER COILED-COIL DOMAIN-CONTAINING PROTEIN 141 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IGLON FAMILY OF IMMUNOGLOBULIN SUPERFAMILY-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LD43457P UniProtKB/TrEMBL
  PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING FAMILY G MEMBER 4B-RELATED UniProtKB/TrEMBL
  RHO GUANINE EXCHANGE FACTOR-RELATED UniProtKB/TrEMBL
Pfam I-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Spectrin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162381449 PharmGKB
PROSITE IG_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART IGc2 UniProtKB/Swiss-Prot
  SM00409 UniProtKB/Swiss-Prot
Superfamily-SCOP Spectrin repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0A6YYF7_HUMAN UniProtKB/TrEMBL
  B8ZZB3 ENTREZGENE, UniProtKB/TrEMBL
  C9JR62 ENTREZGENE, UniProtKB/TrEMBL
  CC141_HUMAN UniProtKB/Swiss-Prot
  H7C0P1 ENTREZGENE
  J3KNW6 ENTREZGENE
  Q2VPJ5_HUMAN UniProtKB/TrEMBL
  Q6ZP82 ENTREZGENE
  Q8N8H3 ENTREZGENE
UniProt Secondary H7C0P1 UniProtKB/Swiss-Prot
  J3KNW6 UniProtKB/Swiss-Prot
  Q8N8H3 UniProtKB/Swiss-Prot