LOC126861358 (BRD4-independent group 4 enhancer GRCh37_chr11:118220212-118221411) - Rat Genome Database

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Gene: LOC126861358 (BRD4-independent group 4 enhancer GRCh37_chr11:118220212-118221411) Homo sapiens
Analyze
Symbol: LOC126861358
Name: BRD4-independent group 4 enhancer GRCh37_chr11:118220212-118221411
RGD ID: 155227718
Description: This genomic region was validated as an active enhancer by the STARR-seq (self-transcribing active regulatory region sequencing) massively parallel reporter assay in HCT116 colorectal carcinoma cells. This sequence was defined as a group 4 enhancer that depends on the BRD2, P300/CBP, MED14 and CDK7 cofactors, but it has limited or no dependence on the BRD4 bromodomain protein. [provided by RefSeq, Sep 2022]
Type: biological-region
RefSeq Status: REVIEWED
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811118,349,497 - 118,350,696 (+)NCBIGRCh38GRCh38hg38GRCh38
T2T-CHM13v2.011118,365,850 - 118,367,049 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References
Additional References at PubMed
PMID:35650434  


Genomics

Variants

.
Variants in LOC126861358
67 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000073.3(CD3G):c.158T>C (p.Ile53Thr) single nucleotide variant CD3G-related condition [RCV003940143]|Combined immunodeficiency due to CD3gamma deficiency [RCV000651965]|not provided [RCV001091037] Chr11:118349821 [GRCh38]
Chr11:118220536 [GRCh37]
Chr11:11q23.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000073.3(CD3G):c.439+11G>A single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV001518123] Chr11:118350694 [GRCh38]
Chr11:118221409 [GRCh37]
Chr11:11q23.3		 benign
NM_000073.3(CD3G):c.161C>T (p.Thr54Ile) single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV001942799] Chr11:118349824 [GRCh38]
Chr11:118220539 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000148276] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
NM_000073.3(CD3G):c.243T>C (p.Pro81=) single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV001104327] Chr11:118349906 [GRCh38]
Chr11:118220621 [GRCh37]
Chr11:11q23.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000073.3(CD3G):c.163T>A (p.Trp55Arg) single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV001972194] Chr11:118349826 [GRCh38]
Chr11:118220541 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000073.3(CD3G):c.214T>A (p.Trp72Arg) single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV002596966] Chr11:118349877 [GRCh38]
Chr11:118220592 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000073.3(CD3G):c.80-17G>A single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV002079475] Chr11:118349726 [GRCh38]
Chr11:118220441 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000073.3(CD3G):c.307+13C>T single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV002056174]|Immunodeficiency due to defect in CD3-gamma [RCV000345972] Chr11:118349983 [GRCh38]
Chr11:118220698 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_000073.3(CD3G):c.294A>T (p.Gln98His) single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV002026025] Chr11:118349957 [GRCh38]
Chr11:118220672 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000073.3(CD3G):c.219T>C (p.Asn73=) single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV001439132] Chr11:118349882 [GRCh38]
Chr11:118220597 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000073.3(CD3G):c.223G>A (p.Gly75Arg) single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV001205989] Chr11:118349886 [GRCh38]
Chr11:118220601 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000073.3(CD3G):c.439+12C>T single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV002060184]|not provided [RCV000513970] Chr11:118350695 [GRCh38]
Chr11:118221410 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_000073.3(CD3G):c.389_391delinsTCT (p.Ala130_Val131delinsValPhe) indel Combined immunodeficiency due to CD3gamma deficiency [RCV000818977]|not specified [RCV002282380] Chr11:118350633..118350635 [GRCh38]
Chr11:118221348..118221350 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000073.3(CD3G):c.308-4A>G single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV000381948] Chr11:118350548 [GRCh38]
Chr11:118221263 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000073.3(CD3G):c.170A>C (p.Lys57Thr) single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV000651961] Chr11:118349833 [GRCh38]
Chr11:118220548 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000073.3(CD3G):c.122C>T (p.Ser41Leu) single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV000819383] Chr11:118349785 [GRCh38]
Chr11:118220500 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000073.3(CD3G):c.80-18C>T single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV002145445] Chr11:118349725 [GRCh38]
Chr11:118220440 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000073.3(CD3G):c.271C>T (p.Gln91Ter) single nucleotide variant Severe combined immunodeficiency disease [RCV002266218] Chr11:118349934 [GRCh38]
Chr11:118220649 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_000073.2(CD3G):c.80_96del deletion Combined immunodeficiency due to CD3gamma deficiency [RCV000087022] Chr11:118349741..118349757 [GRCh38]
Chr11:118220456..118220472 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000073.3(CD3G):c.213dup (p.Trp72fs) duplication Combined immunodeficiency due to CD3gamma deficiency [RCV000704172]|Severe combined immunodeficiency disease [RCV002271572] Chr11:118349867..118349868 [GRCh38]
Chr11:118220582..118220583 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_000073.3(CD3G):c.326A>G (p.Glu109Gly) single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV000798059] Chr11:118350570 [GRCh38]
Chr11:118221285 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000073.3(CD3G):c.128T>C (p.Leu43Pro) single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV000803506] Chr11:118349791 [GRCh38]
Chr11:118220506 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000073.3(CD3G):c.192C>T (p.Phe64=) single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV002760313] Chr11:118349855 [GRCh38]
Chr11:118220570 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000073.3(CD3G):c.391G>T (p.Val131Phe) single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV000352643]|not specified [RCV000455537] Chr11:118350635 [GRCh38]
Chr11:118221350 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_000073.3(CD3G):c.245G>C (p.Arg82Pro) single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV002675785] Chr11:118349908 [GRCh38]
Chr11:118220623 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000073.3(CD3G):c.357_358del (p.Phe120fs) microsatellite Combined immunodeficiency due to CD3gamma deficiency [RCV002801149] Chr11:118350598..118350599 [GRCh38]
Chr11:118221313..118221314 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000073.3(CD3G):c.259T>C (p.Cys87Arg) single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV001922387] Chr11:118349922 [GRCh38]
Chr11:118220637 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000073.3(CD3G):c.390T>C (p.Ala130=) single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV000288417]|not specified [RCV000454974] Chr11:118350634 [GRCh38]
Chr11:118221349 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_000073.3(CD3G):c.122C>G (p.Ser41Trp) single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV001969545] Chr11:118349785 [GRCh38]
Chr11:118220500 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000073.3(CD3G):c.338C>T (p.Ala113Val) single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV001988845] Chr11:118350582 [GRCh38]
Chr11:118221297 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000073.3(CD3G):c.205A>T (p.Lys69Ter) single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV000087023]|not provided [RCV001701750] Chr11:118349868 [GRCh38]
Chr11:118220583 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_000073.3(CD3G):c.308-13_308-6del deletion Combined immunodeficiency due to CD3gamma deficiency [RCV001221250] Chr11:118350538..118350545 [GRCh38]
Chr11:118221253..118221260 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000073.3(CD3G):c.307+18G>A single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV002101607] Chr11:118349988 [GRCh38]
Chr11:118220703 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000073.3(CD3G):c.308-13C>T single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV002154004] Chr11:118350539 [GRCh38]
Chr11:118221254 [GRCh37]
Chr11:11q23.3		 likely benign
GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3 copy number gain See cases [RCV000134064] Chr11:116851372..134998526 [GRCh38]
Chr11:116722088..134868420 [GRCh37]
Chr11:116227298..134373630 [NCBI36]
Chr11:11q23.3-25		 pathogenic
NM_000073.3(CD3G):c.273G>C (p.Gln91His) single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV000793727]|not specified [RCV004027453] Chr11:118349936 [GRCh38]
Chr11:118220651 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000073.3(CD3G):c.417G>A (p.Gln139=) single nucleotide variant not provided [RCV000933520] Chr11:118350661 [GRCh38]
Chr11:118221376 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000073.3(CD3G):c.101A>G (p.Tyr34Cys) single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV002008624] Chr11:118349764 [GRCh38]
Chr11:118220479 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 copy number gain See cases [RCV000053638] Chr11:100348599..135040246 [GRCh38]
Chr11:100219331..134910140 [GRCh37]
Chr11:99724541..134415350 [NCBI36]
Chr11:11q22.1-25		 pathogenic
NM_000073.3(CD3G):c.231T>C (p.Asn77=) single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV002131793] Chr11:118349894 [GRCh38]
Chr11:118220609 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000073.3(CD3G):c.80-18C>A single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV002637852] Chr11:118349725 [GRCh38]
Chr11:118220440 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000073.3(CD3G):c.162A>C (p.Thr54=) single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV002667147] Chr11:118349825 [GRCh38]
Chr11:118220540 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000073.3(CD3G):c.123G>A (p.Ser41=) single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV002177540] Chr11:118349786 [GRCh38]
Chr11:118220501 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000073.3(CD3G):c.381C>T (p.Phe127=) single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV002157870] Chr11:118350625 [GRCh38]
Chr11:118221340 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000073.3(CD3G):c.308-10T>G single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV002174364] Chr11:118350542 [GRCh38]
Chr11:118221257 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000073.3(CD3G):c.213del (p.Lys71fs) deletion Combined immunodeficiency due to CD3gamma deficiency [RCV000651962]|Severe combined immunodeficiency disease [RCV002282292] Chr11:118349868 [GRCh38]
Chr11:118220583 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000073.3(CD3G):c.174T>A (p.Asp58Glu) single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV002820557] Chr11:118349837 [GRCh38]
Chr11:118220552 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000073.3(CD3G):c.245G>A (p.Arg82Gln) single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV001875607] Chr11:118349908 [GRCh38]
Chr11:118220623 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000073.3(CD3G):c.431A>G (p.Gln144Arg) single nucleotide variant not specified [RCV002266217] Chr11:118350675 [GRCh38]
Chr11:118221390 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000073.3(CD3G):c.307+9T>A single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV002574937] Chr11:118349979 [GRCh38]
Chr11:118220694 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000073.3(CD3G):c.353T>C (p.Phe118Ser) single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV001053373] Chr11:118350597 [GRCh38]
Chr11:118221312 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000073.3(CD3G):c.187G>A (p.Gly63Ser) single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV000694313]|not specified [RCV004025189] Chr11:118349850 [GRCh38]
Chr11:118220565 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_000073.3(CD3G):c.338C>G (p.Ala113Gly) single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV002791918] Chr11:118350582 [GRCh38]
Chr11:118221297 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000073.3(CD3G):c.368del (p.Ile123fs) deletion Combined immunodeficiency due to CD3gamma deficiency [RCV001866508] Chr11:118350612 [GRCh38]
Chr11:118221327 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000073.3(CD3G):c.168T>G (p.Phe56Leu) single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV002819666] Chr11:118349831 [GRCh38]
Chr11:118220546 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000073.3(CD3G):c.390_391delinsCT (p.Val131Phe) indel Combined immunodeficiency due to CD3gamma deficiency [RCV000558113] Chr11:118350634..118350635 [GRCh38]
Chr11:118221349..118221350 [GRCh37]
Chr11:11q23.3		 benign
NM_000073.3(CD3G):c.152A>G (p.Lys51Arg) single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV001361689] Chr11:118349815 [GRCh38]
Chr11:118220530 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000073.3(CD3G):c.308-9T>G single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV001368916] Chr11:118350543 [GRCh38]
Chr11:118221258 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3 copy number gain See cases [RCV000137453] Chr11:116868935..135075271 [GRCh38]
Chr11:116739651..134945165 [GRCh37]
Chr11:116244861..134450377 [NCBI36]
Chr11:11q23.3-25		 pathogenic|conflicting data from submitters
GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3 copy number gain See cases [RCV000137582] Chr11:112864326..131189315 [GRCh38]
Chr11:112832130..131059210 [GRCh37]
Chr11:112240259..130564420 [NCBI36]
Chr11:11q23.2-25		 pathogenic
NM_000073.3(CD3G):c.178A>T (p.Lys60Ter) single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV001382623] Chr11:118349841 [GRCh38]
Chr11:118220556 [GRCh37]
Chr11:11q23.3		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000050331] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3 copy number gain See cases [RCV000050627] Chr11:113444446..120648921 [GRCh38]
Chr11:113315168..120519630 [GRCh37]
Chr11:112820378..120024840 [NCBI36]
Chr11:11q23.2-23.3		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3 copy number gain See cases [RCV000138307] Chr11:116806268..135075271 [GRCh38]
Chr11:116676984..134945165 [GRCh37]
Chr11:116182194..134450377 [NCBI36]
Chr11:11q23.3-25		 pathogenic
NM_000073.3(CD3G):c.189C>T (p.Gly63=) single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV001477419] Chr11:118349852 [GRCh38]
Chr11:118220567 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000073.3(CD3G):c.386T>G (p.Leu129Arg) single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV003042214] Chr11:118350630 [GRCh38]
Chr11:118221345 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000073.3(CD3G):c.393T>C (p.Val131=) single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV001441994] Chr11:118350637 [GRCh38]
Chr11:118221352 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000073.3(CD3G):c.114A>G (p.Glu38=) single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV001494852] Chr11:118349777 [GRCh38]
Chr11:118220492 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000073.3(CD3G):c.193C>T (p.Leu65=) single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV002983031] Chr11:118349856 [GRCh38]
Chr11:118220571 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000073.3(CD3G):c.98T>C (p.Val33Ala) single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV003016632] Chr11:118349761 [GRCh38]
Chr11:118220476 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000073.3(CD3G):c.334G>A (p.Ala112Thr) single nucleotide variant not specified [RCV004182712] Chr11:118350578 [GRCh38]
Chr11:118221293 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000073.3(CD3G):c.80-19A>G single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV003110369] Chr11:118349724 [GRCh38]
Chr11:118220439 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000073.3(CD3G):c.111A>G (p.Gln37=) single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV003073430] Chr11:118349774 [GRCh38]
Chr11:118220489 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000073.3(CD3G):c.199G>A (p.Glu67Lys) single nucleotide variant not specified [RCV004354266] Chr11:118349862 [GRCh38]
Chr11:118220577 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000073.3(CD3G):c.282A>G (p.Ser94=) single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV003583309] Chr11:118349945 [GRCh38]
Chr11:118220660 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000073.3(CD3G):c.80-10C>T single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV003744232] Chr11:118349733 [GRCh38]
Chr11:118220448 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000073.3(CD3G):c.174T>C (p.Asp58=) single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV003744518] Chr11:118349837 [GRCh38]
Chr11:118220552 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000073.3(CD3G):c.109C>T (p.Gln37Ter) single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV003744359] Chr11:118349772 [GRCh38]
Chr11:118220487 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000073.3(CD3G):c.409G>T (p.Ala137Ser) single nucleotide variant not specified [RCV004435457] Chr11:118350653 [GRCh38]
Chr11:118221368 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000073.3(CD3G):c.136T>C (p.Cys46Arg) single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV003029745] Chr11:118349799 [GRCh38]
Chr11:118220514 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3 copy number gain See cases [RCV000139362] Chr11:117333952..127709156 [GRCh38]
Chr11:117204668..127579051 [GRCh37]
Chr11:116709878..127084261 [NCBI36]
Chr11:11q23.3-24.2		 pathogenic
NM_000073.3(CD3G):c.437G>C (p.Arg146Thr) single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV001307571] Chr11:118350681 [GRCh38]
Chr11:118221396 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000073.3(CD3G):c.364G>A (p.Glu122Lys) single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV003090535] Chr11:118350608 [GRCh38]
Chr11:118221323 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000073.3(CD3G):c.162A>G (p.Thr54=) single nucleotide variant Combined immunodeficiency due to CD3gamma deficiency [RCV003052816] Chr11:118349825 [GRCh38]
Chr11:118220540 [GRCh37]
Chr11:11q23.3		 likely benign

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC126861358 COSMIC
GTEx LOC126861358 GTEx
Human Proteome Map LOC126861358 Human Proteome Map
NCBI Gene LOC126861358 ENTREZGENE