DCLRE1C (DNA cross-link repair 1C) - Rat Genome Database

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Gene: DCLRE1C (DNA cross-link repair 1C) Homo sapiens
Analyze
Symbol: DCLRE1C
Name: DNA cross-link repair 1C
RGD ID: 1348428
HGNC Page HGNC
Description: Enables 5'-3' exonuclease activity and single-stranded DNA endodeoxyribonuclease activity. Predicted to be involved in double-strand break repair via nonhomologous end joining; interstrand cross-link repair; and protection from non-homologous end joining at telomere. Predicted to act upstream of or within B cell differentiation; DNA metabolic process; and response to ionizing radiation. Located in Golgi apparatus and nucleoplasm. Part of nonhomologous end joining complex. Implicated in Omenn syndrome; common variable immunodeficiency; severe combined immunodeficiency; and severe combined immunodeficiency with sensitivity to ionizing radiation.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: A-SCID; DCLREC1C; DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae); DNA cross-link repair 1C protein; FLJ11360; FLJ36438; hSNM1C; protein artemis; PSO2 homolog; RS-SCID; SCIDA; severe combined immunodeficiency, type a (Athabascan); SNM1 homolog C; SNM1-like protein; SNM1C
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: DCLRE1CP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381014,897,359 - 14,954,432 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1014,897,359 - 14,954,432 (-)EnsemblGRCh38hg38GRCh38
GRCh371014,939,358 - 14,996,431 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361014,988,876 - 15,036,100 (-)NCBINCBI36hg18NCBI36
Build 341014,989,883 - 15,036,100NCBI
Celera1014,876,909 - 14,924,986 (-)NCBI
Cytogenetic Map10p13NCBI
HuRef1014,859,351 - 14,906,283 (-)NCBIHuRef
CHM1_11014,948,990 - 14,996,230 (-)NCBICHM1_1
T2T-CHM13v2.01014,911,323 - 14,968,389 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal lymphocyte morphology  (IAGP)
Abnormal T cell count  (IAGP)
Abnormality of the metaphysis  (IAGP)
Absent tonsils  (IAGP)
Alopecia  (IAGP)
Anemia  (IAGP)
Aplasia of the thymus  (IAGP)
Aplasia/Hypoplasia of the eyebrow  (IAGP)
Autoimmunity  (IAGP)
Autosomal recessive inheritance  (IAGP)
Chronic diarrhea  (IAGP)
Chronic oral candidiasis  (IAGP)
Decreased circulating IgA level  (IAGP)
Decreased circulating IgG level  (IAGP)
Decreased proportion of CD3-positive T cells  (IAGP)
Decreased proportion of naive B cells  (IAGP)
Desquamation of skin soon after birth  (IAGP)
Diarrhea  (IAGP)
Dry skin  (IAGP)
Edema  (IAGP)
Eosinophilia  (IAGP)
Erythroderma  (IAGP)
Failure to thrive  (IAGP)
Fever  (IAGP)
Genital ulcers  (IAGP)
Hashimoto thyroiditis  (IAGP)
Hepatomegaly  (IAGP)
Hypoplasia of the thymus  (IAGP)
Hypoproteinemia  (IAGP)
Hypothyroidism  (IAGP)
Juvenile rheumatoid arthritis  (IAGP)
Lymph node hypoplasia  (IAGP)
Lymphadenopathy  (IAGP)
Lymphoma  (IAGP)
Nephrotic syndrome  (IAGP)
Oral ulcer  (IAGP)
Otitis media  (IAGP)
Panhypogammaglobulinemia  (IAGP)
Pneumonia  (IAGP)
Pruritus  (IAGP)
Recurrent aphthous stomatitis  (IAGP)
Recurrent bacterial infections  (IAGP)
Recurrent fungal infections  (IAGP)
Recurrent gastroenteritis  (IAGP)
Recurrent mycobacterial infections  (IAGP)
Recurrent opportunistic infections  (IAGP)
Recurrent upper and lower respiratory tract infections  (IAGP)
Recurrent upper respiratory tract infections  (IAGP)
Recurrent viral infections  (IAGP)
Secretory IgA deficiency  (IAGP)
Sepsis  (IAGP)
Severe B lymphocytopenia  (IAGP)
Severe combined immunodeficiency  (IAGP)
Short toe  (IAGP)
Skin rash  (IAGP)
Splenomegaly  (IAGP)
Thickened skin  (IAGP)
Thrombocytopenia  (IAGP)
Thyroiditis  (IAGP)
Verrucae  (IAGP)
Vitiligo  (IAGP)
References

Additional References at PubMed
PMID:7566098   PMID:7829101   PMID:9443881   PMID:10737800   PMID:11181991   PMID:11955432   PMID:12055248   PMID:12177301   PMID:12406895   PMID:12477932   PMID:12569164   PMID:12592555  
PMID:12921762   PMID:14628082   PMID:14702039   PMID:14726805   PMID:14744996   PMID:15071507   PMID:15164054   PMID:15456891   PMID:15468306   PMID:15489334   PMID:15574326   PMID:15574327  
PMID:15723659   PMID:15731174   PMID:15811628   PMID:15936993   PMID:16093244   PMID:16344560   PMID:16600297   PMID:16857680   PMID:16874298   PMID:17121861   PMID:17169382   PMID:17207965  
PMID:17242184   PMID:17932067   PMID:18034425   PMID:18252213   PMID:18270339   PMID:19022407   PMID:19074885   PMID:19075292   PMID:19075392   PMID:19398950   PMID:19423708   PMID:19692705  
PMID:19779458   PMID:19859091   PMID:19953608   PMID:20003485   PMID:20496165   PMID:20522537   PMID:20528238   PMID:20543526   PMID:20610542   PMID:20975951   PMID:21390052   PMID:21531702  
PMID:21596788   PMID:21641068   PMID:21785230   PMID:21873635   PMID:22134138   PMID:22527898   PMID:22529269   PMID:22713703   PMID:22730303   PMID:23044421   PMID:23219551   PMID:23284306  
PMID:23465063   PMID:23508102   PMID:23967291   PMID:24230999   PMID:24500713   PMID:25512557   PMID:25917813   PMID:25941166   PMID:25981738   PMID:26186194   PMID:28082683   PMID:28514442  
PMID:28696258   PMID:30059501   PMID:30113698   PMID:30947362   PMID:31900314   PMID:32092471   PMID:32576658   PMID:33961781   PMID:34210101  


Genomics

Comparative Map Data
DCLRE1C
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381014,897,359 - 14,954,432 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1014,897,359 - 14,954,432 (-)EnsemblGRCh38hg38GRCh38
GRCh371014,939,358 - 14,996,431 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361014,988,876 - 15,036,100 (-)NCBINCBI36hg18NCBI36
Build 341014,989,883 - 15,036,100NCBI
Celera1014,876,909 - 14,924,986 (-)NCBI
Cytogenetic Map10p13NCBI
HuRef1014,859,351 - 14,906,283 (-)NCBIHuRef
CHM1_11014,948,990 - 14,996,230 (-)NCBICHM1_1
T2T-CHM13v2.01014,911,323 - 14,968,389 (-)NCBI
Dclre1c
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3923,425,112 - 3,475,248 (+)NCBIGRCm39mm39
GRCm39 Ensembl23,425,168 - 3,465,167 (+)Ensembl
GRCm3823,424,061 - 3,474,211 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl23,424,131 - 3,464,130 (+)EnsemblGRCm38mm10GRCm38
MGSCv3723,341,403 - 3,378,385 (+)NCBIGRCm37mm9NCBIm37
MGSCv3623,341,422 - 3,377,160 (+)NCBImm8
Celera23,375,049 - 3,412,101 (+)NCBICelera
Cytogenetic Map2A1NCBI
Dclre1c
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21774,775,828 - 74,810,089 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1774,776,935 - 74,809,186 (-)Ensembl
Rnor_6.01778,782,512 - 78,812,140 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1778,783,437 - 78,812,111 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01780,427,567 - 80,455,846 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41785,896,581 - 85,928,644 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11785,907,414 - 85,939,509 (-)NCBI
Celera1774,162,589 - 74,190,482 (-)NCBICelera
Cytogenetic Map17q12.3NCBI
Dclre1c
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542919,461,528 - 19,505,321 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542919,461,446 - 19,501,908 (+)NCBIChiLan1.0ChiLan1.0
DCLRE1C
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11015,229,515 - 15,625,331 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1015,236,558 - 15,269,043 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01014,901,335 - 14,956,947 (-)NCBIMhudiblu_PPA_v0panPan3
DCLRE1C
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1221,688,822 - 21,725,021 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl221,688,766 - 21,724,248 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha218,802,137 - 18,838,319 (+)NCBI
ROS_Cfam_1.0221,990,248 - 22,026,469 (+)NCBI
ROS_Cfam_1.0 Ensembl221,990,189 - 22,056,964 (+)Ensembl
UMICH_Zoey_3.1219,190,563 - 19,227,141 (+)NCBI
UNSW_CanFamBas_1.0220,025,548 - 20,061,768 (+)NCBI
UU_Cfam_GSD_1.0220,652,201 - 20,688,382 (+)NCBI
Dclre1c
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244093446,920,004 - 6,950,544 (-)NCBI
SpeTri2.0NW_0049366131,467,797 - 1,501,107 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DCLRE1C
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1046,820,051 - 46,868,030 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11046,820,016 - 46,863,848 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21051,553,277 - 51,596,761 (+)NCBISscrofa10.2Sscrofa10.2susScr3
DCLRE1C
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1914,929,221 - 14,974,791 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl914,929,317 - 14,965,443 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605120,464,546 - 20,515,010 (-)NCBIVero_WHO_p1.0
Dclre1c
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624805555,545 - 592,250 (+)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_004624805555,444 - 593,548 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
WI-15434  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371014,940,256 - 14,940,372UniSTSGRCh37
Build 361014,980,262 - 14,980,378RGDNCBI36
Celera1014,868,296 - 14,868,412RGD
Cytogenetic Map10p13UniSTS
HuRef1014,850,738 - 14,850,854UniSTS
GeneMap99-GB4 RH Map1099.43UniSTS
Whitehead-RH Map1099.7UniSTS
NCBI RH Map10182.7UniSTS
RH66273  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371014,997,206 - 14,997,345UniSTSGRCh37
Build 361015,037,212 - 15,037,351RGDNCBI36
Celera1014,926,098 - 14,926,237RGD
Cytogenetic Map10p13UniSTS
HuRef1014,907,395 - 14,907,534UniSTS
GeneMap99-GB4 RH Map1097.91UniSTS
STS-R68462  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371014,950,348 - 14,950,470UniSTSGRCh37
Build 361014,990,354 - 14,990,476RGDNCBI36
Celera1014,878,386 - 14,878,508RGD
Cytogenetic Map10p13UniSTS
HuRef1014,860,828 - 14,860,950UniSTS
GeneMap99-GB4 RH Map1099.23UniSTS
NCBI RH Map10182.9UniSTS
A007G45  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371014,950,188 - 14,950,426UniSTSGRCh37
Build 361014,990,194 - 14,990,432RGDNCBI36
Celera1014,878,226 - 14,878,464RGD
Cytogenetic Map10p13UniSTS
HuRef1014,860,668 - 14,860,906UniSTS
GeneMap99-GB4 RH Map1097.91UniSTS
NCBI RH Map10185.5UniSTS
DCLRE1C__4679  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371014,949,712 - 14,950,618UniSTSGRCh37
Build 361014,989,718 - 14,990,624RGDNCBI36
Celera1014,877,751 - 14,878,656RGD
HuRef1014,860,193 - 14,861,098UniSTS
GDB:335751  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map10q24.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map3q22.2UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map6p21.1-p12.2UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map13q12.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map9q22.32UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3246
Count of miRNA genes:1051
Interacting mature miRNAs:1269
Transcripts:ENST00000357717, ENST00000378241, ENST00000378242, ENST00000378246, ENST00000378249, ENST00000378254, ENST00000378255, ENST00000378258, ENST00000378278, ENST00000378289, ENST00000396817, ENST00000418843, ENST00000453695, ENST00000456122, ENST00000489161, ENST00000489845, ENST00000492201
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


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 44 1 13 5 508 6 26 10 15 24 110 52 4
Low 2395 2780 1591 498 1406 338 4149 1851 3540 393 1349 1561 171 1 1203 2607 6 2
Below cutoff 210 122 121 37 121 181 336 179 2 1 1 181

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001033855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001033857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001033858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001289076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001289077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001289078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001289079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_110297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006717491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011519616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011519617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011519619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011519620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011519621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_930515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC069544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF088055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ296101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK021422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL360083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW954867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC067233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC108276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE799340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF356378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI494665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM987109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ708910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ932042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA291339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA764814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB110328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ504427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EL735962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000357717   ⟹   ENSP00000350349
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1014,908,166 - 14,954,058 (-)Ensembl
RefSeq Acc Id: ENST00000378241   ⟹   ENSP00000367487
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1014,934,445 - 14,954,018 (-)Ensembl
RefSeq Acc Id: ENST00000378242   ⟹   ENSP00000367488
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1014,908,188 - 14,923,675 (-)Ensembl
RefSeq Acc Id: ENST00000378246   ⟹   ENSP00000367492
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1014,907,879 - 14,954,095 (-)Ensembl
RefSeq Acc Id: ENST00000378249   ⟹   ENSP00000367496
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1014,908,171 - 14,954,048 (-)Ensembl
RefSeq Acc Id: ENST00000378254   ⟹   ENSP00000367502
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1014,908,171 - 14,954,048 (-)Ensembl
RefSeq Acc Id: ENST00000378255   ⟹   ENSP00000367503
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1014,908,171 - 14,954,048 (-)Ensembl
RefSeq Acc Id: ENST00000378258   ⟹   ENSP00000367506
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1014,908,171 - 14,954,072 (-)Ensembl
RefSeq Acc Id: ENST00000378278   ⟹   ENSP00000367527
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1014,904,613 - 14,954,096 (-)Ensembl
RefSeq Acc Id: ENST00000378289   ⟹   ENSP00000367538
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1014,897,359 - 14,954,432 (-)Ensembl
RefSeq Acc Id: ENST00000396817   ⟹   ENSP00000380030
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1014,908,171 - 14,954,048 (-)Ensembl
RefSeq Acc Id: ENST00000418843   ⟹   ENSP00000391428
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1014,928,143 - 14,954,031 (-)Ensembl
RefSeq Acc Id: ENST00000456122   ⟹   ENSP00000413180
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1014,934,723 - 14,954,019 (-)Ensembl
RefSeq Acc Id: ENST00000489161
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1014,919,796 - 14,928,062 (-)Ensembl
RefSeq Acc Id: ENST00000489845
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1014,909,170 - 14,911,322 (-)Ensembl
RefSeq Acc Id: ENST00000492201
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1014,908,742 - 14,928,082 (-)Ensembl
RefSeq Acc Id: NM_001033855   ⟹   NP_001029027
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381014,904,613 - 14,954,096 (-)NCBI
GRCh371014,948,870 - 14,996,106 (-)NCBI
Build 361014,988,876 - 15,036,100 (-)NCBI Archive
HuRef1014,857,091 - 14,906,620 (-)NCBI
CHM1_11014,946,730 - 14,996,567 (-)NCBI
T2T-CHM13v2.01014,918,578 - 14,968,053 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001033857   ⟹   NP_001029029
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381014,904,613 - 14,954,096 (-)NCBI
GRCh371014,948,870 - 14,996,106 (-)NCBI
Build 361014,988,876 - 15,036,100 (-)NCBI Archive
HuRef1014,857,091 - 14,906,620 (-)NCBI
CHM1_11014,946,730 - 14,996,567 (-)NCBI
T2T-CHM13v2.01014,918,578 - 14,968,053 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001033858   ⟹   NP_001029030
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381014,904,613 - 14,954,096 (-)NCBI
GRCh371014,948,870 - 14,996,106 (-)NCBI
Build 361014,988,876 - 15,036,100 (-)NCBI Archive
HuRef1014,857,091 - 14,906,620 (-)NCBI
CHM1_11014,946,730 - 14,996,567 (-)NCBI
T2T-CHM13v2.01014,918,578 - 14,968,053 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001289076   ⟹   NP_001276005
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381014,904,613 - 14,954,096 (-)NCBI
HuRef1014,857,091 - 14,906,620 (-)NCBI
CHM1_11014,946,730 - 14,996,567 (-)NCBI
T2T-CHM13v2.01014,918,578 - 14,968,053 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001289077   ⟹   NP_001276006
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381014,904,613 - 14,954,096 (-)NCBI
HuRef1014,857,091 - 14,906,620 (-)NCBI
CHM1_11014,946,730 - 14,996,567 (-)NCBI
T2T-CHM13v2.01014,918,578 - 14,968,053 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001289078   ⟹   NP_001276007
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381014,904,613 - 14,954,096 (-)NCBI
HuRef1014,857,091 - 14,906,620 (-)NCBI
CHM1_11014,946,730 - 14,996,567 (-)NCBI
T2T-CHM13v2.01014,918,578 - 14,968,053 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001289079   ⟹   NP_001276008
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381014,904,613 - 14,954,096 (-)NCBI
HuRef1014,857,091 - 14,906,620 (-)NCBI
CHM1_11014,946,730 - 14,996,567 (-)NCBI
T2T-CHM13v2.01014,918,578 - 14,968,053 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350965   ⟹   NP_001337894
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381014,897,359 - 14,954,096 (-)NCBI
T2T-CHM13v2.01014,911,323 - 14,968,053 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350966   ⟹   NP_001337895
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381014,897,359 - 14,954,096 (-)NCBI
T2T-CHM13v2.01014,911,323 - 14,968,053 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350967   ⟹   NP_001337896
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381014,897,359 - 14,954,096 (-)NCBI
T2T-CHM13v2.01014,911,323 - 14,968,053 (-)NCBI
Sequence:
RefSeq Acc Id: NM_022487   ⟹   NP_071932
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381014,904,613 - 14,954,096 (-)NCBI
GRCh371014,948,870 - 14,996,106 (-)NCBI
Build 361014,988,876 - 15,036,100 (-)NCBI Archive
HuRef1014,857,091 - 14,906,620 (-)NCBI
CHM1_11014,946,730 - 14,996,567 (-)NCBI
T2T-CHM13v2.01014,918,578 - 14,968,053 (-)NCBI
Sequence:
RefSeq Acc Id: NR_110297
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381014,904,613 - 14,954,096 (-)NCBI
HuRef1014,857,091 - 14,906,620 (-)NCBI
CHM1_11014,946,730 - 14,996,567 (-)NCBI
T2T-CHM13v2.01014,918,578 - 14,968,053 (-)NCBI
Sequence:
RefSeq Acc Id: NR_146960
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381014,897,564 - 14,954,432 (-)NCBI
T2T-CHM13v2.01014,911,528 - 14,968,389 (-)NCBI
Sequence:
RefSeq Acc Id: NR_146961
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381014,904,613 - 14,954,096 (-)NCBI
T2T-CHM13v2.01014,918,578 - 14,968,053 (-)NCBI
Sequence:
RefSeq Acc Id: NR_146962
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381014,904,611 - 14,954,432 (-)NCBI
T2T-CHM13v2.01014,918,576 - 14,968,389 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011519620   ⟹   XP_011517922
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381014,904,613 - 14,954,432 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011519621   ⟹   XP_011517923
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381014,922,980 - 14,954,432 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047425648   ⟹   XP_047281604
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381014,904,611 - 14,949,053 (-)NCBI
RefSeq Acc Id: XM_047425649   ⟹   XP_047281605
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381014,904,611 - 14,947,609 (-)NCBI
RefSeq Acc Id: XM_047425650   ⟹   XP_047281606
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381014,904,611 - 14,949,078 (-)NCBI
RefSeq Acc Id: XM_047425651   ⟹   XP_047281607
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381014,904,611 - 14,949,053 (-)NCBI
RefSeq Acc Id: XM_047425652   ⟹   XP_047281608
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381014,904,611 - 14,947,609 (-)NCBI
RefSeq Acc Id: XR_930515
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381014,919,744 - 14,954,432 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001029027 (Get FASTA)   NCBI Sequence Viewer  
  NP_001029029 (Get FASTA)   NCBI Sequence Viewer  
  NP_001029030 (Get FASTA)   NCBI Sequence Viewer  
  NP_001276005 (Get FASTA)   NCBI Sequence Viewer  
  NP_001276006 (Get FASTA)   NCBI Sequence Viewer  
  NP_001276007 (Get FASTA)   NCBI Sequence Viewer  
  NP_001276008 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337894 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337895 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337896 (Get FASTA)   NCBI Sequence Viewer  
  NP_071932 (Get FASTA)   NCBI Sequence Viewer  
  XP_011517922 (Get FASTA)   NCBI Sequence Viewer  
  XP_011517923 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281604 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281605 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281606 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281607 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281608 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH00863 (Get FASTA)   NCBI Sequence Viewer  
  AAH09185 (Get FASTA)   NCBI Sequence Viewer  
  AAH22254 (Get FASTA)   NCBI Sequence Viewer  
  AAM53255 (Get FASTA)   NCBI Sequence Viewer  
  AAM53256 (Get FASTA)   NCBI Sequence Viewer  
  AAM53257 (Get FASTA)   NCBI Sequence Viewer  
  AAM53258 (Get FASTA)   NCBI Sequence Viewer  
  AAM53259 (Get FASTA)   NCBI Sequence Viewer  
  AAM53260 (Get FASTA)   NCBI Sequence Viewer  
  ABF47101 (Get FASTA)   NCBI Sequence Viewer  
  BAB13820 (Get FASTA)   NCBI Sequence Viewer  
  BAF83287 (Get FASTA)   NCBI Sequence Viewer  
  BAG51137 (Get FASTA)   NCBI Sequence Viewer  
  BAG52759 (Get FASTA)   NCBI Sequence Viewer  
  CAC37570 (Get FASTA)   NCBI Sequence Viewer  
  EAW86248 (Get FASTA)   NCBI Sequence Viewer  
  EAW86249 (Get FASTA)   NCBI Sequence Viewer  
  EAW86250 (Get FASTA)   NCBI Sequence Viewer  
  EAW86251 (Get FASTA)   NCBI Sequence Viewer  
  EAW86252 (Get FASTA)   NCBI Sequence Viewer  
  Q96SD1 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_071932   ⟸   NM_022487
- Peptide Label: isoform b
- UniProtKB: Q96SD1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001029027   ⟸   NM_001033855
- Peptide Label: isoform a
- UniProtKB: Q96SD1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001029029   ⟸   NM_001033857
- Peptide Label: isoform c
- UniProtKB: Q96SD1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001029030   ⟸   NM_001033858
- Peptide Label: isoform c
- UniProtKB: Q96SD1 (UniProtKB/Swiss-Prot),   B3KMX5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001276007   ⟸   NM_001289078
- Peptide Label: isoform b
- UniProtKB: Q96SD1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001276005   ⟸   NM_001289076
- Peptide Label: isoform b
- UniProtKB: Q96SD1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001276006   ⟸   NM_001289077
- Peptide Label: isoform c
- UniProtKB: Q96SD1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001276008   ⟸   NM_001289079
- Peptide Label: isoform c
- UniProtKB: Q96SD1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011517922   ⟸   XM_011519620
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011517923   ⟸   XM_011519621
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: NP_001337895   ⟸   NM_001350966
- Peptide Label: isoform e
- Sequence:
RefSeq Acc Id: NP_001337894   ⟸   NM_001350965
- Peptide Label: isoform d
- Sequence:
RefSeq Acc Id: NP_001337896   ⟸   NM_001350967
- Peptide Label: isoform f
- Sequence:
RefSeq Acc Id: ENSP00000413180   ⟸   ENST00000456122
RefSeq Acc Id: ENSP00000367538   ⟸   ENST00000378289
RefSeq Acc Id: ENSP00000367488   ⟸   ENST00000378242
RefSeq Acc Id: ENSP00000367487   ⟸   ENST00000378241
RefSeq Acc Id: ENSP00000367492   ⟸   ENST00000378246
RefSeq Acc Id: ENSP00000367496   ⟸   ENST00000378249
RefSeq Acc Id: ENSP00000367502   ⟸   ENST00000378254
RefSeq Acc Id: ENSP00000367506   ⟸   ENST00000378258
RefSeq Acc Id: ENSP00000367503   ⟸   ENST00000378255
RefSeq Acc Id: ENSP00000367527   ⟸   ENST00000378278
RefSeq Acc Id: ENSP00000391428   ⟸   ENST00000418843
RefSeq Acc Id: ENSP00000380030   ⟸   ENST00000396817
RefSeq Acc Id: ENSP00000350349   ⟸   ENST00000357717
RefSeq Acc Id: XP_047281606   ⟸   XM_047425650
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047281604   ⟸   XM_047425648
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047281607   ⟸   XM_047425651
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047281608   ⟸   XM_047425652
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047281605   ⟸   XM_047425649
- Peptide Label: isoform X1
Protein Domains
DRMBL

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96SD1-F1-model_v2 AlphaFold Q96SD1 1-692 view protein structure

Promoters
RGD ID:7217045
Promoter ID:EPDNEW_H14268
Type:initiation region
Name:DCLRE1C_1
Description:DNA cross-link repair 1C
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14269  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381014,954,086 - 14,954,146EPDNEW
RGD ID:7217047
Promoter ID:EPDNEW_H14269
Type:initiation region
Name:DCLRE1C_2
Description:DNA cross-link repair 1C
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14268  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381014,954,408 - 14,954,468EPDNEW
RGD ID:6787487
Promoter ID:HG_KWN:8681
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Jurkat,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000046941
Position:
Human AssemblyChrPosition (strand)Source
Build 361014,992,906 - 14,994,072 (-)MPROMDB
RGD ID:6787490
Promoter ID:HG_KWN:8682
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC001INK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361015,005,051 - 15,006,152 (-)MPROMDB
RGD ID:6787489
Promoter ID:HG_KWN:8685
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000378241,   ENST00000378275,   NM_001033855,   NM_001033857,   NM_001033858,   NM_022487,   OTTHUMT00000046933,   OTTHUMT00000046936,   OTTHUMT00000046937,   UC001INP.1,   UC001INQ.1,   UC001INR.1,   UC009XJH.1,   UC009XJI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361015,035,946 - 15,036,446 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_000010.10:g.(?_14987084)_(14996029_?)dup duplication Severe combined immunodeficiency due to DCLRE1C deficiency [RCV000551152] Chr10:14987084..14996029 [GRCh37]
Chr10:10p13
uncertain significance
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg) single nucleotide variant Histiocytic medullary reticulosis [RCV001272391]|Severe combined immunodeficiency due to DCLRE1C deficiency [RCV000560374]|not provided [RCV000224125]|not specified [RCV000455778] Chr10:14935470 [GRCh38]
Chr10:14977469 [GRCh37]
Chr10:10p13
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_001033855.3(DCLRE1C):c.512C>G (p.Pro171Arg) single nucleotide variant Histiocytic medullary reticulosis [RCV000305875]|Severe combined immunodeficiency disease [RCV000029657]|Severe combined immunodeficiency due to DCLRE1C deficiency [RCV000988331]|not provided [RCV001650846]|not specified [RCV000244893] Chr10:14934728 [GRCh38]
Chr10:14976727 [GRCh37]
Chr10:10p13
benign|likely benign
NM_001033855.3(DCLRE1C):c.643C>T (p.Leu215=) single nucleotide variant Histiocytic medullary reticulosis [RCV000341516]|Severe combined immunodeficiency disease [RCV000029658]|Severe combined immunodeficiency due to DCLRE1C deficiency [RCV001510061]|not provided [RCV001723587]|not specified [RCV000249874] Chr10:14934415 [GRCh38]
Chr10:14976414 [GRCh37]
Chr10:10p13
benign
NM_001033855.3(DCLRE1C):c.241C>T (p.Arg81Ter) single nucleotide variant Histiocytic medullary reticulosis [RCV001272780]|Severe combined immunodeficiency due to DCLRE1C deficiency [RCV000004929]|Severe combined immunodeficiency due to DCLRE1C deficiency [RCV000762806]|not provided [RCV000224235] Chr10:14945110 [GRCh38]
Chr10:14987109 [GRCh37]
Chr10:10p13
pathogenic
DCLRE1C, EX1-4DEL deletion Severe combined immunodeficiency due to DCLRE1C deficiency [RCV000004930] Chr10:10p pathogenic
DCLRE1C, EX5-6DEL deletion Severe combined immunodeficiency due to DCLRE1C deficiency [RCV000004931] Chr10:10p pathogenic
NM_001033855.3(DCLRE1C):c.972+1G>C single nucleotide variant Severe combined immunodeficiency due to DCLRE1C deficiency [RCV000004932] Chr10:14926842 [GRCh38]
Chr10:14968841 [GRCh37]
Chr10:10p13
pathogenic
NM_001033855.3(DCLRE1C):c.917+1G>A single nucleotide variant Severe combined immunodeficiency due to DCLRE1C deficiency [RCV000004933] Chr10:14928015 [GRCh38]
Chr10:14970014 [GRCh37]
Chr10:10p13
pathogenic|likely pathogenic
NM_001033855.3(DCLRE1C):c.362+1G>T single nucleotide variant Severe combined immunodeficiency due to DCLRE1C deficiency [RCV000004934] Chr10:14936537 [GRCh38]
Chr10:14978536 [GRCh37]
Chr10:10p13
pathogenic
NM_001033855.3(DCLRE1C):c.780+1del deletion Severe combined immunodeficiency due to DCLRE1C deficiency [RCV000004935] Chr10:14932853 [GRCh38]
Chr10:14974852 [GRCh37]
Chr10:10p13
pathogenic
DCLRE1C, EX5-8DEL deletion Severe combined immunodeficiency due to DCLRE1C deficiency [RCV000004936] Chr10:10p pathogenic
NM_001033855.3(DCLRE1C):c.597C>A (p.Tyr199Ter) single nucleotide variant Severe combined immunodeficiency due to DCLRE1C deficiency [RCV000703249]|Severe combined immunodeficiency, athabascan-type [RCV000004937]|not provided [RCV000256066] Chr10:14934461 [GRCh38]
Chr10:14976460 [GRCh37]
Chr10:10p13
pathogenic
NM_001033855.3(DCLRE1C):c.103C>G (p.His35Asp) single nucleotide variant Histiocytic medullary reticulosis [RCV000004938]|Severe combined immunodeficiency due to DCLRE1C deficiency [RCV001388406] Chr10:14953908 [GRCh38]
Chr10:14995907 [GRCh37]
Chr10:10p13
pathogenic|likely pathogenic
NM_001033855.3(DCLRE1C):c.1350_1356del (p.Asp451fs) deletion Severe combined immunodeficiency due to DCLRE1C deficiency [RCV000644797]|Severe combined immunodeficiency, athabascan-type [RCV001826416]|Severe combined immunodeficiency, partial [RCV000004939] Chr10:14909131..14909137 [GRCh38]
Chr10:14951130..14951136 [GRCh37]
Chr10:10p13
pathogenic
DCLRE1C, 17-BP DEL deletion Severe combined immunodeficiency, partial [RCV000004940] Chr10:10p pathogenic
NM_001033855.3(DCLRE1C):c.2T>C (p.Met1Thr) single nucleotide variant Histiocytic medullary reticulosis [RCV000004941] Chr10:14954009 [GRCh38]
Chr10:14996008 [GRCh37]
Chr10:10p13
pathogenic
NM_001033855.3(DCLRE1C):c.1078C>T (p.Arg360Trp) single nucleotide variant Severe combined immunodeficiency due to DCLRE1C deficiency [RCV001207296]|Severe combined immunodeficiency, athabascan-type [RCV001835941]|not provided [RCV000729121] Chr10:14919816 [GRCh38]
Chr10:14961815 [GRCh37]
Chr10:10p13
uncertain significance
NM_001033855.3(DCLRE1C):c.1985C>T (p.Pro662Leu) single nucleotide variant Severe combined immunodeficiency due to DCLRE1C deficiency [RCV000542454] Chr10:14908502 [GRCh38]
Chr10:14950501 [GRCh37]
Chr10:10p13
uncertain significance
NM_001033855.3(DCLRE1C):c.420G>A (p.Ala140=) single nucleotide variant Severe combined immunodeficiency due to DCLRE1C deficiency [RCV001084849]|Severe combined immunodeficiency, athabascan-type [RCV001272392]|not provided [RCV000727874] Chr10:14935507 [GRCh38]
Chr10:14977506 [GRCh37]
Chr10:10p13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001033855.3(DCLRE1C):c.1008C>T (p.Asn336=) single nucleotide variant Severe combined immunodeficiency due to DCLRE1C deficiency [RCV000527136]|not provided [RCV001724052] Chr10:14923034 [GRCh38]
Chr10:14965033 [GRCh37]
Chr10:10p13
benign|likely benign
NM_001033855.3(DCLRE1C):c.331T>C (p.Leu111=) single nucleotide variant Severe combined immunodeficiency due to DCLRE1C deficiency [RCV001494351] Chr10:14936569 [GRCh38]
Chr10:14978568 [GRCh37]
Chr10:10p13
likely benign
GRCh38/hg38 10p15.3-13(chr10:90421-15569528)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052496]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052496]|See cases [RCV000052496] Chr10:90421..15569528 [GRCh38]
Chr10:224406..15611527 [GRCh37]
Chr10:126361..15651533 [NCBI36]
Chr10:10p15.3-13
pathogenic
GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1 copy number loss See cases [RCV000052500] Chr10:4802753..16823491 [GRCh38]
Chr10:4844945..16865490 [GRCh37]
Chr10:4834945..16905496 [NCBI36]
Chr10:10p15.1-13
pathogenic
GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3 copy number gain See cases [RCV000053507] Chr10:69261..19184047 [GRCh38]
Chr10:224406..19472976 [GRCh37]
Chr10:105201..19512982 [NCBI36]
Chr10:10p15.3-12.31
pathogenic
GRCh38/hg38 10p15.3-12.2(chr10:90221-22567425)x3 copy number gain See cases [RCV000053508] Chr10:90221..22567425 [GRCh38]
Chr10:224406..22856354 [GRCh37]
Chr10:126161..22896360 [NCBI36]
Chr10:10p15.3-12.2
pathogenic
GRCh38/hg38 10p15.3-12.1(chr10:90421-29058318)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053512]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053512]|See cases [RCV000053512] Chr10:90421..29058318 [GRCh38]
Chr10:224406..29347247 [GRCh37]
Chr10:126361..29387253 [NCBI36]
Chr10:10p15.3-12.1
pathogenic
GRCh38/hg38 10p13(chr10:14844417-15150430)x3 copy number gain See cases [RCV000053515] Chr10:14844417..15150430 [GRCh38]
Chr10:14886416..15192429 [GRCh37]
Chr10:14926422..15232435 [NCBI36]
Chr10:10p13
pathogenic
NM_001033855.3(DCLRE1C):c.1342A>G (p.Asn448Asp) single nucleotide variant not provided [RCV000087179] Chr10:14909145 [GRCh38]
Chr10:14951144 [GRCh37]
Chr10:10p13
uncertain significance
NM_001033855.3(DCLRE1C):c.959C>G (p.Ser320Cys) single nucleotide variant Histiocytic medullary reticulosis [RCV000348357]|Severe combined immunodeficiency due to DCLRE1C deficiency [RCV001083680]|Severe combined immunodeficiency, athabascan-type [RCV001831916]|not provided [RCV000124664] Chr10:14926856 [GRCh38]
Chr10:14968855 [GRCh37]
Chr10:10p13
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_001033855.3(DCLRE1C):c.1503T>C (p.Asp501=) single nucleotide variant Histiocytic medullary reticulosis [RCV001272775]|Severe combined immunodeficiency due to DCLRE1C deficiency [RCV000644801]|not specified [RCV000124665] Chr10:14908984 [GRCh38]
Chr10:14950983 [GRCh37]
Chr10:10p13
benign
NM_001033855.3(DCLRE1C):c.1893C>T (p.Pro631=) single nucleotide variant Histiocytic medullary reticulosis [RCV001102546]|Severe combined immunodeficiency due to DCLRE1C deficiency [RCV000540517]|not provided [RCV001705909]|not specified [RCV000174697] Chr10:14908594 [GRCh38]
Chr10:14950593 [GRCh37]
Chr10:10p13
benign|likely benign
NM_001033855.3(DCLRE1C):c.162-10T>C single nucleotide variant Severe combined immunodeficiency due to DCLRE1C deficiency [RCV001412294] Chr10:14945199 [GRCh38]
Chr10:14987198 [GRCh37]
Chr10:10p13
likely benign
NM_001033855.3(DCLRE1C):c.403G>A (p.Gly135Arg) single nucleotide variant not provided [RCV000171174] Chr10:14935524 [GRCh38]
Chr10:14977523 [GRCh37]
Chr10:10p13
likely pathogenic
NM_001033855.3(DCLRE1C):c.1536G>T (p.Val512=) single nucleotide variant Severe combined immunodeficiency due to DCLRE1C deficiency [RCV001494166] Chr10:14908951 [GRCh38]
Chr10:14950950 [GRCh37]
Chr10:10p13
likely benign
NM_001033855.3(DCLRE1C):c.1408C>A (p.Gln470Lys) single nucleotide variant Severe combined immunodeficiency due to DCLRE1C deficiency [RCV001312287]|Severe combined immunodeficiency, athabascan-type [RCV001830261] Chr10:14909079 [GRCh38]
Chr10:14951078 [GRCh37]
Chr10:10p13
uncertain significance
NM_001033855.3(DCLRE1C):c.1333C>T (p.Arg445Cys) single nucleotide variant not provided [RCV000174696] Chr10:14909154 [GRCh38]
Chr10:14951153 [GRCh37]
Chr10:10p13
uncertain significance
NM_001033855.3(DCLRE1C):c.2001A>G (p.Leu667=) single nucleotide variant Histiocytic medullary reticulosis [RCV000361943]|Severe combined immunodeficiency due to DCLRE1C deficiency [RCV000554914]|not provided [RCV001310562]|not specified [RCV000174698] Chr10:14908486 [GRCh38]
Chr10:14950485 [GRCh37]
Chr10:10p13
benign|likely benign|uncertain significance
GRCh38/hg38 10p14-12.31(chr10:7428770-21587752)x1 copy number loss See cases [RCV000137307] Chr10:7428770..21587752 [GRCh38]
Chr10:7470732..21876681 [GRCh37]
Chr10:7510738..21916687 [NCBI36]
Chr10:10p14-12.31
pathogenic|uncertain significance
GRCh38/hg38 10p15.3-13(chr10:70478-15373336)x3 copy number gain See cases [RCV000137384] Chr10:70478..15373336 [GRCh38]
Chr10:224406..15415335 [GRCh37]
Chr10:106418..15455341 [NCBI36]
Chr10:10p15.3-13
uncertain significance
GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3 copy number gain See cases [RCV000138428] Chr10:90205..26339978 [GRCh38]
Chr10:224406..26628907 [GRCh37]
Chr10:126145..26668913 [NCBI36]
Chr10:10p15.3-12.1
pathogenic
GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3 copy number gain See cases [RCV000141497] Chr10:4604734..48074662 [GRCh38]
Chr10:4646926..47531169 [GRCh37]
Chr10:4636926..47125152 [NCBI36]
Chr10:10p15.1-q11.22
benign
GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1 copy number loss See cases [RCV000143703] Chr10:54086..19336980 [GRCh38]
Chr10:100026..19625909 [GRCh37]
Chr10:90026..19665915 [NCBI36]
Chr10:10p15.3-12.31
pathogenic|likely pathogenic
NM_001033855.3(DCLRE1C):c.1739C>T (p.Pro580Leu) single nucleotide variant Histiocytic medullary reticulosis [RCV001272773]|Severe combined immunodeficiency due to DCLRE1C deficiency [RCV001041365]|not provided [RCV000224754] Chr10:14908748 [GRCh38]
Chr10:14950747 [GRCh37]
Chr10:10p13
pathogenic|uncertain significance
NM_001033855.3(DCLRE1C):c.536G>A (p.Arg179Gln) single nucleotide variant Severe combined immunodeficiency due to DCLRE1C deficiency [RCV000530742]|Severe combined immunodeficiency, athabascan-type [RCV001834788] Chr10:14934704 [GRCh38]
Chr10:14976703 [GRCh37]
Chr10:10p13
uncertain significance
NM_001033855.3(DCLRE1C):c.780+10C>T single nucleotide variant Histiocytic medullary reticulosis [RCV000347278]|Severe combined immunodeficiency due to DCLRE1C deficiency [RCV001510059]|not provided [RCV001723846]|not specified [RCV000245213] Chr10:14932844 [GRCh38]
Chr10:14974843 [GRCh37]
Chr10:10p13
benign
NM_001033855.3(DCLRE1C):c.1669dup (p.Thr557fs) duplication Severe combined immunodeficiency due to DCLRE1C deficiency [RCV000240842] Chr10:14908817..14908818 [GRCh38]
Chr10:14950816..14950817 [GRCh37]
Chr10:10p13
pathogenic
NM_001033855.3(DCLRE1C):c.194C>T (p.Thr65Ile) single nucleotide variant Severe combined immunodeficiency due to DCLRE1C deficiency [RCV000240844] Chr10:14945157 [GRCh38]
Chr10:14987156 [GRCh37]
Chr10:10p13
pathogenic
NM_001033855.3(DCLRE1C):c.728A>G (p.His243Arg) single nucleotide variant Histiocytic medullary reticulosis [RCV000307635]|Severe combined immunodeficiency due to DCLRE1C deficiency [RCV001510060]|not provided [RCV001723845]|not specified [RCV000253217] Chr10:14932906 [GRCh38]
Chr10:14974905 [GRCh37]
Chr10:10p13
benign|likely benign
NM_001033855.3(DCLRE1C):c.1101A>G (p.Pro367=) single nucleotide variant Histiocytic medullary reticulosis [RCV000373590]|Severe combined immunodeficiency due to DCLRE1C deficiency [RCV001084672]|not provided [RCV000302818] Chr10:14919793 [GRCh38]
Chr10:14961792 [GRCh37]
Chr10:10p13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001033855.3(DCLRE1C):c.*1339G>C single nucleotide variant Histiocytic medullary reticulosis [RCV000369168] Chr10:14907069 [GRCh38]
Chr10:14949068 [GRCh37]
Chr10:10p13
benign|likely benign
NM_001033855.3(DCLRE1C):c.*975G>A single nucleotide variant Histiocytic medullary reticulosis [RCV000395863] Chr10:14907433 [GRCh38]
Chr10:14949432 [GRCh37]
Chr10:10p13
benign|likely benign
NM_001033855.3(DCLRE1C):c.1670C>T (p.Thr557Ile) single nucleotide variant Histiocytic medullary reticulosis [RCV000322559]|Severe combined immunodeficiency due to DCLRE1C deficiency [RCV001365054]|Severe combined immunodeficiency, athabascan-type [RCV001828295] Chr10:14908817 [GRCh38]
Chr10:14950816 [GRCh37]
Chr10:10p13
uncertain significance
NM_001033855.3(DCLRE1C):c.*616T>C single nucleotide variant Histiocytic medullary reticulosis [RCV000269154] Chr10:14907792 [GRCh38]
Chr10:14949791 [GRCh37]
Chr10:10p13
uncertain significance
NM_001033855.3(DCLRE1C):c.*12G>A single nucleotide variant Histiocytic medullary reticulosis [RCV000270519] Chr10:14908396 [GRCh38]
Chr10:14950395 [GRCh37]
Chr10:10p13
likely benign|uncertain significance
NM_001033855.3(DCLRE1C):c.*11C>T single nucleotide variant Histiocytic medullary reticulosis [RCV000304982] Chr10:14908397 [GRCh38]
Chr10:14950396 [GRCh37]
Chr10:10p13
uncertain significance
NM_001033855.3(DCLRE1C):c.*238A>C single nucleotide variant Histiocytic medullary reticulosis [RCV000400271] Chr10:14908170 [GRCh38]
Chr10:14950169 [GRCh37]
Chr10:10p13
uncertain significance
NM_001033855.3(DCLRE1C):c.*1174G>A single nucleotide variant Histiocytic medullary reticulosis [RCV000288911] Chr10:14907234 [GRCh38]
Chr10:14949233 [GRCh37]
Chr10:10p13
uncertain significance
NM_001033855.3(DCLRE1C):c.1545A>G (p.Gly515=) single nucleotide variant Histiocytic medullary reticulosis [RCV000374591]|Severe combined immunodeficiency due to DCLRE1C deficiency [RCV000876769] Chr10:14908942 [GRCh38]
Chr10:14950941 [GRCh37]
Chr10:10p13
benign|likely benign|uncertain significance
NM_001033855.3(DCLRE1C):c.799T>C (p.Trp267Arg) single nucleotide variant Histiocytic medullary reticulosis [RCV000289880]|Severe combined immunodeficiency due to DCLRE1C deficiency [RCV001248351]|Severe combined immunodeficiency, athabascan-type [RCV001828296] Chr10:14928134 [GRCh38]
Chr10:14970133 [GRCh37]
Chr10:10p13
uncertain significance
NM_001033855.3(DCLRE1C):c.*752T>C single nucleotide variant Histiocytic medullary reticulosis [RCV000327553] Chr10:14907656 [GRCh38]
Chr10:14949655 [GRCh37]
Chr10:10p13
benign|likely benign
NM_001033855.3(DCLRE1C):c.*1215C>T single nucleotide variant Histiocytic medullary reticulosis [RCV000328660] Chr10:14907193 [GRCh38]
Chr10:14949192 [GRCh37]
Chr10:10p13
uncertain significance
NM_001033855.3(DCLRE1C):c.*391C>T single nucleotide variant Histiocytic medullary reticulosis [RCV000351460] Chr10:14908017 [GRCh38]
Chr10:14950016 [GRCh37]
Chr10:10p13
uncertain significance
NM_001033855.3(DCLRE1C):c.*1216G>A single nucleotide variant Histiocytic medullary reticulosis [RCV000289916] Chr10:14907192 [GRCh38]
Chr10:14949191 [GRCh37]
Chr10:10p13
uncertain significance
NM_001033855.3(DCLRE1C):c.*1276C>G single nucleotide variant Histiocytic medullary reticulosis [RCV000329632] Chr10:14907132 [GRCh38]
Chr10:14949131 [GRCh37]
Chr10:10p13
uncertain significance
NM_001033855.3(DCLRE1C):c.*878C>G single nucleotide variant Histiocytic medullary reticulosis [RCV000353510] Chr10:14907530 [GRCh38]
Chr10:14949529 [GRCh37]
Chr10:10p13
uncertain significance
NM_001033855.3(DCLRE1C):c.*555A>G single nucleotide variant Histiocytic medullary reticulosis [RCV000378465] Chr10:14907853 [GRCh38]
Chr10:14949852 [GRCh37]
Chr10:10p13
uncertain significance
NM_001033855.3(DCLRE1C):c.*848A>G single nucleotide variant Histiocytic medullary reticulosis [RCV000401063] Chr10:14907560 [GRCh38]
Chr10:14949559 [GRCh37]
Chr10:10p13
benign|likely benign
NM_001033855.3(DCLRE1C):c.*1186T>G single nucleotide variant Histiocytic medullary reticulosis [RCV000380923] Chr10:14907222 [GRCh38]
Chr10:14949221 [GRCh37]
Chr10:10p13
uncertain significance
NM_001033855.3(DCLRE1C):c.550A>T (p.Ser184Cys) single nucleotide variant Histiocytic medullary reticulosis [RCV000401504]|Severe combined immunodeficiency due to DCLRE1C deficiency [RCV001248679] Chr10:14934508 [GRCh38]
Chr10:14976507 [GRCh37]
Chr10:10p13
uncertain significance
NM_001033855.3(DCLRE1C):c.*759T>C single nucleotide variant Histiocytic medullary reticulosis [RCV000275083] Chr10:14907649 [GRCh38]
Chr10:14949648 [GRCh37]
Chr10:10p13
uncertain significance
NM_001033855.3(DCLRE1C):c.*1390T>G single nucleotide variant Histiocytic medullary reticulosis [RCV000260254] Chr10:14907018 [GRCh38]
Chr10:14949017 [GRCh37]
Chr10:10p13
uncertain significance
NM_001033855.3(DCLRE1C):c.*1280C>T single nucleotide variant Histiocytic medullary reticulosis [RCV000276879] Chr10:14907128 [GRCh38]
Chr10:14949127 [GRCh37]
Chr10:10p13
uncertain significance
NM_001033855.3(DCLRE1C):c.*1394C>T single nucleotide variant Histiocytic medullary reticulosis [RCV000357346] Chr10:14907014 [GRCh38]
Chr10:14949013 [GRCh37]
Chr10:10p13
uncertain significance
NM_001033855.3(DCLRE1C):c.169G>T (p.Val57Phe) single nucleotide variant Histiocytic medullary reticulosis [RCV000261164]|Severe combined immunodeficiency due to DCLRE1C deficiency [RCV000644807]|Severe combined immunodeficiency, athabascan-type [RCV001272394] Chr10:14945182 [GRCh38]
Chr10:14987181 [GRCh37]
Chr10:10p13
likely benign|uncertain significance
NM_001033855.3(DCLRE1C):c.*1487G>C single nucleotide variant Histiocytic medullary reticulosis [RCV000358626] Chr10:14906921 [GRCh38]
Chr10:14948920 [GRCh37]
Chr10:10p13
uncertain significance