LOC126862549 (BRD4-independent group 4 enhancer GRCh37_chr17:36093401-36094600) - Rat Genome Database

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Gene: LOC126862549 (BRD4-independent group 4 enhancer GRCh37_chr17:36093401-36094600) Homo sapiens
Analyze
Symbol: LOC126862549
Name: BRD4-independent group 4 enhancer GRCh37_chr17:36093401-36094600
RGD ID: 155227550
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
GRCh381737,733,408 - 37,734,611 (+)NCBIGRCh38GRCh38hg38GRCh38
T2T-CHM13v2.01738,720,382 - 38,721,585 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References
Additional References at PubMed
PMID:35650434  


Genomics

Variants

.
Variants in LOC126862549
62 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000458.4(HNF1B):c.634C>T (p.Gln212Ter) single nucleotide variant Renal cysts and diabetes syndrome [RCV002492130]|not provided [RCV001953701] Chr17:37733732 [GRCh38]
Chr17:36093725 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
GRCh37/hg19 17q12(chr17:34899836-36177728)x1 copy number loss See cases [RCV000051228] Chr17:34899836..36177728 [GRCh37]
Chr17:31973949..33251841 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34508117-36248918)x3 copy number gain See cases [RCV000148166] Chr17:34508117..36248918 [GRCh37]
Chr17:31474518..33323031 [NCBI36]
Chr17:17q12		 pathogenic
GRCh38/hg38 17q12(chr17:36357258-37889296)x1 copy number loss See cases [RCV000148256] Chr17:36357258..37889296 [GRCh38]
Chr17:34611352..36248918 [GRCh37]
Chr17:31635465..33323031 [NCBI36]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.699C>T (p.Arg233=) single nucleotide variant HNF1B-related condition [RCV003983214]|Maturity onset diabetes mellitus in young [RCV002464331]|not provided [RCV000827597] Chr17:37733667 [GRCh38]
Chr17:36093660 [GRCh37]
Chr17:17q12		 likely benign
NM_000458.4(HNF1B):c.545-73TCTG[3] microsatellite Maturity onset diabetes mellitus in young [RCV002465369] Chr17:37733871..37733882 [GRCh38]
Chr17:36093864..36093871 [GRCh37]
Chr17:17q12		 benign
NM_000458.4(HNF1B):c.592A>C (p.Ser198Arg) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464283]|Renal cysts and diabetes syndrome [RCV002493068]|not provided [RCV000658054] Chr17:37733774 [GRCh38]
Chr17:36093767 [GRCh37]
Chr17:17q12		 uncertain risk allele|uncertain significance
NM_000458.4(HNF1B):c.809+109A>G single nucleotide variant Maturity onset diabetes mellitus in young [RCV002465801]|not provided [RCV000838002] Chr17:37733448 [GRCh38]
Chr17:36093441 [GRCh37]
Chr17:17q12		 likely benign
NM_000458.4(HNF1B):c.703C>A (p.Arg235=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464054] Chr17:37733663 [GRCh38]
Chr17:36093656 [GRCh37]
Chr17:17q12		 likely benign
NM_000458.4(HNF1B):c.723G>A (p.Ala241=) single nucleotide variant HNF1B-related condition [RCV003935695]|Maturity onset diabetes mellitus in young [RCV002464269]|Renal cysts and diabetes syndrome [RCV002491275]|not provided [RCV003558464]|not specified [RCV000605602] Chr17:37733643 [GRCh38]
Chr17:36093636 [GRCh37]
Chr17:17q12		 benign|likely benign
NM_000458.4(HNF1B):c.755G>A (p.Arg252Gln) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464053]|not provided [RCV003103168] Chr17:37733611 [GRCh38]
Chr17:36093604 [GRCh37]
Chr17:17q12		 likely risk allele|uncertain significance
NM_000458.4(HNF1B):c.636G>C (p.Gln212His) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464055] Chr17:37733730 [GRCh38]
Chr17:36093723 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000458.4(HNF1B):c.719_720dup (p.Ala241fs) duplication Maturity onset diabetes mellitus in young [RCV002464317]|Renal cysts and diabetes syndrome [RCV000787156] Chr17:37733645..37733646 [GRCh38]
Chr17:36093638..36093639 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000458.4(HNF1B):c.738G>A (p.Leu246=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002465372] Chr17:37733628 [GRCh38]
Chr17:36093621 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000458.4(HNF1B):c.778G>A (p.Glu260Lys) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002465758]|not provided [RCV000722709] Chr17:37733588 [GRCh38]
Chr17:36093581 [GRCh37]
Chr17:17q12		 uncertain risk allele|uncertain significance
GRCh37/hg19 17q12(chr17:34310998-36297053)x3 copy number gain See cases [RCV000051912] Chr17:34310998..36297053 [GRCh37]
Chr17:31335111..33373530 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34360168-36209228)x3 copy number gain See cases [RCV000051914] Chr17:34360168..36209228 [GRCh37]
Chr17:31384281..33283341 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34817422-36173763)x3 copy number gain See cases [RCV000051916] Chr17:34817422..36173763 [GRCh37]
Chr17:31891535..33247876 [NCBI36]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.584A>G (p.Asp195Gly) single nucleotide variant not provided [RCV001757586] Chr17:37733782 [GRCh38]
Chr17:36093775 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000458.4(HNF1B):c.578T>C (p.Met193Thr) single nucleotide variant Renal cysts and diabetes syndrome [RCV002489483]|not provided [RCV000993279]|not specified [RCV001819702] Chr17:37733788 [GRCh38]
Chr17:36093781 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000458.4(HNF1B):c.809+63T>C single nucleotide variant not provided [RCV001562769] Chr17:37733494 [GRCh38]
Chr17:36093487 [GRCh37]
Chr17:17q12		 likely benign
GRCh37/hg19 17q12(chr17:34815184-36209228)x3 copy number gain See cases [RCV000051915] Chr17:34815184..36209228 [GRCh37]
Chr17:31889297..33283341 [NCBI36]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.644G>A (p.Gly215Glu) single nucleotide variant not provided [RCV001983822] Chr17:37733722 [GRCh38]
Chr17:36093715 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000458.4(HNF1B):c.712T>A (p.Trp238Arg) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002367464] Chr17:37733654 [GRCh38]
Chr17:36093647 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17q12(chr17:34817422-36168104)x1 copy number loss See cases [RCV000054377] Chr17:34817422..36168104 [GRCh37]
Chr17:31891535..33242217 [NCBI36]
Chr17:17q12		 pathogenic
GRCh38/hg38 17q12(chr17:36493974-37890225)x1 copy number loss See cases [RCV000054378] Chr17:36493974..37890225 [GRCh38]
Chr17:34849818..36263019 [GRCh37]
Chr17:31923931..33346418 [NCBI36]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.713G>C (p.Trp238Ser) single nucleotide variant not provided [RCV002811745] Chr17:37733653 [GRCh38]
Chr17:36093646 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000458.4(HNF1B):c.791T>C (p.Leu264Ser) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787143] Chr17:37733575 [GRCh38]
Chr17:36093568 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.715_717del (p.Gly239del) deletion Renal cysts and diabetes syndrome [RCV000787263] Chr17:37733649..37733651 [GRCh38]
Chr17:36093642..36093644 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.589A>C (p.Ser197Arg) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787169] Chr17:37733777 [GRCh38]
Chr17:36093770 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000458.4(HNF1B):c.698G>A (p.Arg233His) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787165] Chr17:37733668 [GRCh38]
Chr17:36093661 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.712T>C (p.Trp238Arg) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787161] Chr17:37733654 [GRCh38]
Chr17:36093647 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.727del (p.Gln243fs) deletion Renal cysts and diabetes syndrome [RCV000787154] Chr17:37733639 [GRCh38]
Chr17:36093632 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.728A>C (p.Gln243Pro) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787153] Chr17:37733638 [GRCh38]
Chr17:36093631 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.742C>T (p.Gln248Ter) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787151] Chr17:37733624 [GRCh38]
Chr17:36093617 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.755G>C (p.Arg252Pro) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787150]|not provided [RCV000479017] Chr17:37733611 [GRCh38]
Chr17:36093604 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.657C>G (p.Ser219=) single nucleotide variant HNF1B-related condition [RCV003900336]|not provided [RCV000597746] Chr17:37733709 [GRCh38]
Chr17:36093702 [GRCh37]
Chr17:17q12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
Single allele duplication Autism [RCV000754205] Chr17:36357256..37995300 [GRCh38]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.657C>T (p.Ser219=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002368072]|Renal cysts and diabetes syndrome [RCV001125737]|Renal cysts and diabetes syndrome [RCV002483690]|not provided [RCV000713804]|not specified [RCV000601597] Chr17:37733709 [GRCh38]
Chr17:36093702 [GRCh37]
Chr17:17q12		 benign|likely benign
NM_000458.4(HNF1B):c.781A>G (p.Arg261Gly) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787146]|not provided [RCV002508256] Chr17:37733585 [GRCh38]
Chr17:36093578 [GRCh37]
Chr17:17q12		 likely pathogenic|uncertain significance
GRCh37/hg19 17q12(chr17:35958761-36224189)x3 copy number gain See cases [RCV000052478] Chr17:35958761..36224189 [GRCh37]
Chr17:33032874..33298302 [NCBI36]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.750C>T (p.Tyr250=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464088]|Renal cysts and diabetes syndrome [RCV000030534]|not provided [RCV000727488]|not specified [RCV000244023] Chr17:37733616 [GRCh38]
Chr17:36093609 [GRCh37]
Chr17:17q12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 17q12(chr17:36422657-37890225)x1 copy number loss See cases [RCV000054376] Chr17:36422657..37890225 [GRCh38]
Chr17:34768966..36263019 [GRCh37]
Chr17:31843079..33373530 [NCBI36]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.632_635dup (p.Ser213fs) duplication Renal cysts and diabetes syndrome [RCV000787168]|not provided [RCV000713803] Chr17:37733730..37733731 [GRCh38]
Chr17:36093723..36093724 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34508117-36248918)x3 copy number gain See cases [RCV000050286] Chr17:34508117..36248918 [GRCh37]
Chr17:31474518..33323031 [NCBI36]
Chr17:17q12		 pathogenic|conflicting data from submitters
NM_000458.4(HNF1B):c.708C>T (p.Phe236=) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787162] Chr17:37733658 [GRCh38]
Chr17:36093651 [GRCh37]
Chr17:17q12		 likely benign
NM_000458.4(HNF1B):c.715G>C (p.Gly239Arg) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787160] Chr17:37733651 [GRCh38]
Chr17:36093644 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.717del (p.Ala241fs) deletion Renal cysts and diabetes syndrome [RCV000787157] Chr17:37733649 [GRCh38]
Chr17:36093642 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.807_809+3del deletion not provided [RCV001817968] Chr17:37733554..37733559 [GRCh38]
Chr17:36093547..36093552 [GRCh37]
Chr17:17q12		 pathogenic
NC_000017.11:g.(?_36143765)_(37995300_?)del deletion Autism [RCV000754203] Chr17:36143765..37995300 [GRCh38]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.545-73TCTG[7] microsatellite not provided [RCV000836344] Chr17:37733870..37733871 [GRCh38]
Chr17:36093863..36093864 [GRCh37]
Chr17:17q12		 benign
NM_000458.4(HNF1B):c.754C>T (p.Arg252Trp) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844931]|Renal cysts and diabetes syndrome [RCV002488453] Chr17:37733612 [GRCh38]
Chr17:36093605 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000458.4(HNF1B):c.809+1G>A single nucleotide variant Renal cysts and diabetes syndrome [RCV000787142]|Renal cysts and diabetes syndrome [RCV002487620]|not provided [RCV003546602] Chr17:37733556 [GRCh38]
Chr17:36093549 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000458.4(HNF1B):c.738G>T (p.Leu246Phe) single nucleotide variant not provided [RCV000993281] Chr17:37733628 [GRCh38]
Chr17:36093621 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000458.4(HNF1B):c.660T>C (p.Asp220=) single nucleotide variant HNF1B-related condition [RCV003945947]|Maturity onset diabetes mellitus in young [RCV001248887]|Renal cysts and diabetes syndrome [RCV002491851]|not provided [RCV002069316]|not specified [RCV001819954] Chr17:37733706 [GRCh38]
Chr17:36093699 [GRCh37]
Chr17:17q12		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000458.4(HNF1B):c.681CAA[1] (p.Asn228del) microsatellite not provided [RCV001758873] Chr17:37733680..37733682 [GRCh38]
Chr17:36093673..36093675 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000458.4(HNF1B):c.697C>T (p.Arg233Cys) single nucleotide variant not provided [RCV001776490] Chr17:37733669 [GRCh38]
Chr17:36093662 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000458.4(HNF1B):c.684C>G (p.Asn228Lys) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002374415]|Renal cysts and diabetes syndrome [RCV000354402]|not provided [RCV000993280]|not specified [RCV000252224] Chr17:37733682 [GRCh38]
Chr17:36093675 [GRCh37]
Chr17:17q12		 benign|likely benign
GRCh38/hg38 17q12(chr17:36719878-37889304) copy number loss Diaphragmatic eventration [RCV001823057] Chr17:36719878..37889304 [GRCh38]
Chr17:17q12		 uncertain significance
NM_000458.4(HNF1B):c.703C>T (p.Arg235Trp) single nucleotide variant Renal cysts and diabetes syndrome [RCV000030532]|not provided [RCV001852606] Chr17:37733663 [GRCh38]
Chr17:36093656 [GRCh37]
Chr17:17q12		 likely pathogenic|uncertain significance
GRCh37/hg19 17q12(chr17:34851537-36173763)x1 copy number loss See cases [RCV000054379] Chr17:34851537..36173763 [GRCh37]
Chr17:31925650..33247876 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34899836-36224189)x1 copy number loss See cases [RCV000054382] Chr17:34899836..36224189 [GRCh37]
Chr17:31973949..33298302 [NCBI36]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.789del (p.Ala263_Leu264insTer) deletion Renal cysts and diabetes syndrome [RCV000787144]|not provided [RCV000713805] Chr17:37733577 [GRCh38]
Chr17:36093570 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000458.4(HNF1B):c.716G>A (p.Gly239Glu) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787159] Chr17:37733650 [GRCh38]
Chr17:36093643 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.717dup (p.Pro240fs) duplication Renal cysts and diabetes syndrome [RCV000787158]|Type 2 diabetes mellitus [RCV003884728] Chr17:37733648..37733649 [GRCh38]
Chr17:36093641..36093642 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000458.4(HNF1B):c.737T>C (p.Leu246Ser) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787152] Chr17:37733629 [GRCh38]
Chr17:36093622 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.766C>T (p.Pro256Ser) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787148]|not provided [RCV000993282] Chr17:37733600 [GRCh38]
Chr17:36093593 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.686AGA[1] (p.Lys230del) microsatellite not provided [RCV002715892] Chr17:37733675..37733677 [GRCh38]
Chr17:36093668..36093670 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000458.4(HNF1B):c.721G>A (p.Ala241Thr) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787155]|not provided [RCV000270959] Chr17:37733645 [GRCh38]
Chr17:36093638 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000458.4(HNF1B):c.628del (p.Ser210fs) deletion Renal cysts and diabetes syndrome [RCV002221391] Chr17:37733738 [GRCh38]
Chr17:36093731 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.786_787dup (p.Ala263fs) duplication Renal cysts and diabetes syndrome [RCV000787145] Chr17:37733578..37733579 [GRCh38]
Chr17:36093571..36093572 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.704G>A (p.Arg235Gln) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787163]|not provided [RCV001775999] Chr17:37733662 [GRCh38]
Chr17:36093655 [GRCh37]
Chr17:17q12		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000458.4(HNF1B):c.809+1G>T single nucleotide variant Renal cysts and diabetes syndrome [RCV000787141]|not provided [RCV000265224] Chr17:37733556 [GRCh38]
Chr17:36093549 [GRCh37]
Chr17:17q12		 pathogenic
NC_000017.11:g.(?_36357256)_(37995300_?)del deletion Schizophrenia [RCV000754204] Chr17:36357256..37995300 [GRCh38]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.662A>T (p.Asp221Val) single nucleotide variant Maturity onset diabetes mellitus in young [RCV001248889]|Renal cysts and diabetes syndrome [RCV000787167]|not provided [RCV001869184] Chr17:37733704 [GRCh38]
Chr17:36093697 [GRCh37]
Chr17:17q12		 benign|uncertain significance
GRCh37/hg19 17q12(chr17:34508117-36173763)x1 copy number loss See cases [RCV000054375] Chr17:34508117..36173763 [GRCh37]
Chr17:31474518..33247876 [NCBI36]
Chr17:17q12		 pathogenic
GRCh38/hg38 17q12(chr17:36357258-37889296)x1 copy number loss See cases [RCV000051077] Chr17:36357258..37889296 [GRCh38]
Chr17:34611352..36248918 [GRCh37]
Chr17:31635465..33323031 [NCBI36]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.758A>C (p.Gln253Pro) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787149] Chr17:37733608 [GRCh38]
Chr17:36093601 [GRCh37]
Chr17:17q12		 likely pathogenic
NC_000017.11:g.(?_36446252)_(37887875_?)del deletion Autism [RCV000754206] Chr17:36446252..37887875 [GRCh38]
Chr17:17q12		 pathogenic
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1		 pathogenic
NM_000458.4(HNF1B):c.783_786del (p.Glu262fs) microsatellite not provided [RCV002852798] Chr17:37733580..37733583 [GRCh38]
Chr17:36093573..36093576 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34856055-36248859)x3 copy number gain See cases [RCV000141116] Chr17:34856055..36248859 [GRCh37]
Chr17:31930168..33322972 [NCBI36]
Chr17:17q12		 pathogenic
GRCh38/hg38 17q12(chr17:36500465-37889304)x1 copy number loss See cases [RCV000138632] Chr17:36500465..37889304 [GRCh38]
Chr17:34856305..36248926 [GRCh37]
Chr17:31930418..33323039 [NCBI36]
Chr17:17q12		 pathogenic
GRCh38/hg38 17q12(chr17:36566143-37808105)x3 copy number gain See cases [RCV000141558] Chr17:36566143..37808105 [GRCh38]
Chr17:34817452..36168075 [GRCh37]
Chr17:31891565..33242188 [NCBI36]
Chr17:17q12		 uncertain significance
GRCh38/hg38 17q12(chr17:36500215-37889296)x3 copy number gain See cases [RCV000050448] Chr17:36500215..37889296 [GRCh38]
Chr17:34856055..36248918 [GRCh37]
Chr17:31930168..33323031 [NCBI36]
Chr17:17q12		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2		 pathogenic
GRCh37/hg19 17q12(chr17:34817422-36188700)x1 copy number loss See cases [RCV000137917] Chr17:34817422..36188700 [GRCh37]
Chr17:31891535..33262813 [NCBI36]
Chr17:17q12		 pathogenic
GRCh38/hg38 17q12(chr17:36446545-38225796)x1 copy number loss See cases [RCV000137918] Chr17:36446545..38225796 [GRCh38]
Chr17:34817422..36263019 [GRCh37]
Chr17:31891535..33635633 [NCBI36]
Chr17:17q12		 pathogenic
GRCh38/hg38 17q12(chr17:36357258-38225796)x3 copy number gain See cases [RCV000138816] Chr17:36357258..38225796 [GRCh38]
Chr17:34611352..36263019 [GRCh37]
Chr17:31635465..33635633 [NCBI36]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.780G>C (p.Glu260Asp) single nucleotide variant HNF1B-related condition [RCV003424324]|Renal cysts and diabetes syndrome [RCV000787147]|not provided [RCV000734628]|not specified [RCV001288507] Chr17:37733586 [GRCh38]
Chr17:36093579 [GRCh37]
Chr17:17q12		 benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 17q12(chr17:35076189-36248926)x1 copy number loss See cases [RCV000134125] Chr17:35076189..36248926 [GRCh37]
Chr17:32150302..33323039 [NCBI36]
Chr17:17q12		 pathogenic
GRCh38/hg38 17q12(chr17:36461608-37889296)x3 copy number gain See cases [RCV000138608] Chr17:36461608..37889296 [GRCh38]
Chr17:34817422..36248918 [GRCh37]
Chr17:31891535..33323031 [NCBI36]
Chr17:17q12		 likely pathogenic|uncertain significance
GRCh37/hg19 17q12(chr17:34822466-36283612)x1 copy number loss See cases [RCV000142090] Chr17:34822466..36283612 [GRCh37]
Chr17:31896579..33337163 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822466-36316161)x1 copy number loss See cases [RCV000142104] Chr17:34822466..36316161 [GRCh37]
Chr17:31896579..33337163 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:36059104-36244358)x3 copy number gain See cases [RCV000142124] Chr17:36059104..36244358 [GRCh37]
Chr17:33133217..33318471 [NCBI36]
Chr17:17q12		 likely benign|uncertain significance
NM_000458.4(HNF1B):c.722C>T (p.Ala241Val) single nucleotide variant HNF1B-related condition [RCV003943558]|not provided [RCV002918372] Chr17:37733644 [GRCh38]
Chr17:36093637 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000458.4(HNF1B):c.658G>C (p.Asp220His) single nucleotide variant Renal cysts and diabetes syndrome [RCV002471169]|not specified [RCV001820328] Chr17:37733708 [GRCh38]
Chr17:36093701 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17q12(chr17:34822466-36393628)x1 copy number loss See cases [RCV000142004] Chr17:34822466..36393628 [GRCh37]
Chr17:31896579..33647435 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36350005)x3 copy number gain See cases [RCV000142072] Chr17:34822465..36350005 [GRCh37]
Chr17:31896578..33337163 [NCBI36]
Chr17:17q12		 likely pathogenic
GRCh37/hg19 17q12(chr17:34822466-36307773)x1 copy number loss See cases [RCV000142028] Chr17:34822466..36307773 [GRCh37]
Chr17:31896579..33337163 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36283807)x1 copy number loss See cases [RCV000142180] Chr17:34822465..36283807 [GRCh37]
Chr17:31896578..33337163 [NCBI36]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.580A>G (p.Thr194Ala) single nucleotide variant not provided [RCV002927335] Chr17:37733786 [GRCh38]
Chr17:36093779 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000458.4(HNF1B):c.581C>T (p.Thr194Ile) single nucleotide variant not provided [RCV003042697] Chr17:37733785 [GRCh38]
Chr17:36093778 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh38/hg38 17q12(chr17:36500215-37889296)x1 copy number loss See cases [RCV000148120] Chr17:36500215..37889296 [GRCh38]
Chr17:34856055..36248918 [GRCh37]
Chr17:31930168..33323031 [NCBI36]
Chr17:17q12		 pathogenic
GRCh38/hg38 17q12(chr17:36357258-37889296)x3 copy number gain See cases [RCV000148124] Chr17:36357258..37889296 [GRCh38]
Chr17:34611352..36248918 [GRCh37]
Chr17:31635465..33323031 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36283612)x3 copy number gain See cases [RCV000143663] Chr17:34822465..36283612 [GRCh37]
Chr17:31896578..33337163 [NCBI36]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.660T>A (p.Asp220Glu) single nucleotide variant HNF1B-related condition [RCV003961324]|not provided [RCV002944008] Chr17:37733706 [GRCh38]
Chr17:36093699 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000458.4(HNF1B):c.758A>T (p.Gln253Leu) single nucleotide variant Renal cysts and diabetes syndrome [RCV002470223] Chr17:37733608 [GRCh38]
Chr17:36093601 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh38/hg38 17q12(chr17:36138501-37924067) copy number gain Anomalous pulmonary venous return [RCV003223580] Chr17:36138501..37924067 [GRCh38]
Chr17:17q12		 pathogenic
GRCh38/hg38 17q12(chr17:36486532-37745203)x1 copy number loss Chromosome 17q12 deletion syndrome [RCV003327643] Chr17:36486532..37745203 [GRCh38]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.677C>A (p.Pro226His) single nucleotide variant HNF1B-related condition [RCV003410792]|not provided [RCV003778335] Chr17:37733689 [GRCh38]
Chr17:36093682 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh38/hg38 17q12(chr17:36466109-37946106) copy number loss Autism spectrum disorder [RCV003883418] Chr17:36466109..37946106 [GRCh38]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.751G>A (p.Asp251Asn) single nucleotide variant not provided [RCV003547968] Chr17:37733615 [GRCh38]
Chr17:36093608 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000458.4(HNF1B):c.805A>G (p.Asn269Asp) single nucleotide variant not provided [RCV003672163] Chr17:37733561 [GRCh38]
Chr17:36093554 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000458.4(HNF1B):c.694C>T (p.Arg232Cys) single nucleotide variant not provided [RCV003835084] Chr17:37733672 [GRCh38]
Chr17:36093665 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000458.4(HNF1B):c.720C>T (p.Pro240=) single nucleotide variant not provided [RCV003559066] Chr17:37733646 [GRCh38]
Chr17:36093639 [GRCh37]
Chr17:17q12		 likely benign
NM_000458.4(HNF1B):c.545-4T>C single nucleotide variant not provided [RCV003670863] Chr17:37733825 [GRCh38]
Chr17:36093818 [GRCh37]
Chr17:17q12		 likely benign
NM_000458.4(HNF1B):c.709A>C (p.Lys237Gln) single nucleotide variant not provided [RCV003564628] Chr17:37733657 [GRCh38]
Chr17:36093650 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000458.4(HNF1B):c.561C>T (p.Val187=) single nucleotide variant not provided [RCV003567912] Chr17:37733805 [GRCh38]
Chr17:36093798 [GRCh37]
Chr17:17q12		 likely benign
NM_000458.4(HNF1B):c.809+6A>G single nucleotide variant not provided [RCV003736062] Chr17:37733551 [GRCh38]
Chr17:36093544 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000458.4(HNF1B):c.577A>G (p.Met193Val) single nucleotide variant not provided [RCV003682710] Chr17:37733789 [GRCh38]
Chr17:36093782 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000458.4(HNF1B):c.774G>A (p.Lys258=) single nucleotide variant not provided [RCV003732548] Chr17:37733592 [GRCh38]
Chr17:36093585 [GRCh37]
Chr17:17q12		 likely benign
NM_000458.4(HNF1B):c.785_786del (p.Glu262fs) microsatellite HNF1B-related condition [RCV003982645] Chr17:37733580..37733581 [GRCh38]
Chr17:36093573..36093574 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.809+10C>A single nucleotide variant HNF1B-related condition [RCV003969068] Chr17:37733547 [GRCh38]
Chr17:36093540 [GRCh37]
Chr17:17q12		 likely benign
GRCh37/hg19 17q12(chr17:34437482-36244358)x3 copy number gain See cases [RCV000141832] Chr17:34437482..36244358 [GRCh37]
Chr17:31461595..33318471 [NCBI36]
Chr17:17q12		 likely pathogenic
GRCh37/hg19 17q12(chr17:34360168-36248859)x1 copy number loss See cases [RCV000140228] Chr17:34360168..36248859 [GRCh37]
Chr17:31384281..33322972 [NCBI36]
Chr17:17q12		 pathogenic

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC126862549 COSMIC
GTEx LOC126862549 GTEx
Human Proteome Map LOC126862549 Human Proteome Map
NCBI Gene LOC126862549 ENTREZGENE