LOC106736614 (RET 5' regulatory region) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: LOC106736614 (RET 5' regulatory region) Homo sapiens
Analyze
Symbol: LOC106736614
Name: RET 5' regulatory region
RGD ID: 38659859
Description: This region contains upstream regulatory elements for the ret proto-oncogene (RET), including multiple enhancers and the proximal promoter. The distal enhancer is activated by synergistic binding of SRY box 10 and paired box 3. Signaling by retinoic acid displaces chromatin repressors (e.g. methyl CpG binding protein 2, histone deacetylase 1) from this region, thereby potentiating activity of the downstream promoter. The more proximal regulatory elements are positively regulated by homeobox B5, NK2 homeobox 1, and paired-like homeobox 2b, and negatively regulated by early growth response 1 (Egr1). Two common polymorphisms (rs10900296 and rs10900297) in this region are associated with risk of Hirschsprung disease and disrupt the recognition site of NK2 homeobox 1. A subregion was also shown to be an enhancer by the ChIP-STARR-seq massively parallel reporter assay in primed human embryonic stem cells, where it is marked by the H3K4me1 histone modification. [provided by RefSeq, Dec 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
GRCh381043,072,914 - 43,077,291 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371043,568,362 - 43,572,739 (+)NCBIGRCh37GRCh37hg19GRCh37
T2T-CHM13v2.01043,950,387 - 43,954,764 (+)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:1350670   PMID:9426223   PMID:9840920   PMID:11032856   PMID:11054558   PMID:12123817   PMID:12406571   PMID:12668617   PMID:15548547   PMID:16144862   PMID:19853745   PMID:20952403  
PMID:21677782   PMID:25267720   PMID:30033119  


Genomics

Variants

.
Variants in LOC106736614
57 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_000010.11:g.43077033C>T single nucleotide variant not provided [RCV001549542] Chr10:43077033 [GRCh38]
Chr10:43572481 [GRCh37]
Chr10:10q11.21		 likely benign
NC_000010.11:g.43076732C>A single nucleotide variant not provided [RCV001546105] Chr10:43076732 [GRCh38]
Chr10:43572180 [GRCh37]
Chr10:10q11.21		 likely benign
NC_000010.11:g.43076978C>T single nucleotide variant not provided [RCV001558610] Chr10:43076978 [GRCh38]
Chr10:43572426 [GRCh37]
Chr10:10q11.21		 likely benign
NC_000010.11:g.43076848G>A single nucleotide variant not provided [RCV001655112] Chr10:43076848 [GRCh38]
Chr10:43572296 [GRCh37]
Chr10:10q11.21		 benign
NM_020975.6(RET):c.-158G>A single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV000285183]|Multiple endocrine neoplasia [RCV000342597]|Pheochromocytoma [RCV000284131]|Renal hypodysplasia/aplasia 1 [RCV000400846] Chr10:43077101 [GRCh38]
Chr10:43572549 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_020975.6(RET):c.-132G>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256191]|Hirschsprung disease, susceptibility to, 1 [RCV000393831]|Multiple endocrine neoplasia [RCV000298833]|Pheochromocytoma [RCV000336868]|Renal hypodysplasia/aplasia 1 [RCV000369892] Chr10:43077127 [GRCh38]
Chr10:43572575 [GRCh37]
Chr10:10q11.21		 likely benign|uncertain significance
NM_020975.6(RET):c.20G>A (p.Gly7Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000567089]|Hirschsprung disease, susceptibility to, 1 [RCV002497216]|Hirschsprung disease, susceptibility to, 1 [RCV003459397]|Malignant tumor of breast [RCV001269372]|Multiple endocrine neoplasia, type 2 [RCV000688487]|not provided [RCV003314623] Chr10:43077278 [GRCh38]
Chr10:43572726 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_020975.6(RET):c.18C>T (p.Ser6=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013606]|Multiple endocrine neoplasia, type 2 [RCV000547863]|not provided [RCV003237924] Chr10:43077276 [GRCh38]
Chr10:43572724 [GRCh37]
Chr10:10q11.21		 likely benign|uncertain significance
NM_020975.6(RET):c.31C>G (p.Leu11Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019149]|Multiple endocrine neoplasia, type 2 [RCV000123319] Chr10:43077289 [GRCh38]
Chr10:43572737 [GRCh37]
Chr10:10q11.21		 uncertain significance
GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3 copy number gain See cases [RCV000142967] Chr10:42112187..67400675 [GRCh38]
Chr10:42607635..69160433 [GRCh37]
Chr10:41927641..68830439 [NCBI36]
Chr10:10q11.21-21.3		 pathogenic
NM_020975.6(RET):c.31C>A (p.Leu11Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000575741]|Multiple endocrine neoplasia, type 2 [RCV000689589]|RET-related condition [RCV003925750]|not specified [RCV001821691] Chr10:43077289 [GRCh38]
Chr10:43572737 [GRCh37]
Chr10:10q11.21		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.-2C>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000572702]|Hirschsprung disease, susceptibility to, 1 [RCV002503860]|RET-related condition [RCV003919883]|not provided [RCV001580474]|not specified [RCV000221356] Chr10:43077257 [GRCh38]
Chr10:43572705 [GRCh37]
Chr10:10q11.21		 likely benign|uncertain significance
GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3 copy number gain See cases [RCV000134848] Chr10:42685306..73715908 [GRCh38]
Chr10:43180754..75475666 [GRCh37]
Chr10:42500760..75145672 [NCBI36]
Chr10:10q11.21-22.2		 pathogenic
NM_020975.6(RET):c.-187C>A single nucleotide variant Hirschsprung Disease, Dominant [RCV000325032]|Multiple endocrine neoplasia [RCV000291019]|Pheochromocytoma [RCV000381849]|Renal hypodysplasia/aplasia 1 [RCV000383449] Chr10:43077072 [GRCh38]
Chr10:43572520 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_020975.6(RET):c.15G>C (p.Thr5=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012310]|Multiple endocrine neoplasia, type 2 [RCV001480371] Chr10:43077273 [GRCh38]
Chr10:43572721 [GRCh37]
Chr10:10q11.21		 likely benign
GRCh38/hg38 10q11.21-21.1(chr10:42884294-52265317)x3 copy number gain See cases [RCV000134381] Chr10:42884294..52265317 [GRCh38]
Chr10:43379742..54025077 [GRCh37]
Chr10:42699748..53695083 [NCBI36]
Chr10:10q11.21-21.1		 pathogenic
NM_020975.6(RET):c.7A>G (p.Lys3Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000708761]|Multiple endocrine neoplasia, type 2 [RCV001213441] Chr10:43077265 [GRCh38]
Chr10:43572713 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_020630.5(RET):c.-200A>G single nucleotide variant Hirschsprung Disease, Dominant [RCV000281211]|Multiple endocrine neoplasia [RCV000265906]|Pheochromocytoma [RCV000375701]|Renal hypodysplasia/aplasia 1 [RCV000320981]|not provided [RCV001692084] Chr10:43077059 [GRCh38]
Chr10:43572507 [GRCh37]
Chr10:10q11.21		 benign
GRCh38/hg38 10q11.21-11.23(chr10:42395201-50877059)x3 copy number gain See cases [RCV000134846] Chr10:42395201..50877059 [GRCh38]
Chr10:42890649..52636819 [GRCh37]
Chr10:42210655..52306825 [NCBI36]
Chr10:10q11.21-11.23		 pathogenic
NM_020975.5(RET):c.-196C>A single nucleotide variant Hirschsprung Disease, Dominant [RCV000317662]|Multiple endocrine neoplasia [RCV000295854]|Pheochromocytoma [RCV000372338]|Renal hypodysplasia/aplasia 1 [RCV000350719]|not provided [RCV000836537] Chr10:43077063 [GRCh38]
Chr10:43572511 [GRCh37]
Chr10:10q11.21		 benign|likely benign
GRCh38/hg38 10q11.21(chr10:42395216-43234240)x3 copy number gain See cases [RCV000137126] Chr10:42395216..43234240 [GRCh38]
Chr10:42890664..43729688 [GRCh37]
Chr10:42210670..43049694 [NCBI36]
Chr10:10q11.21		 uncertain significance
NC_000010.10:g.(?_43572701)_(43623723_?)dup duplication Multiple endocrine neoplasia, type 2 [RCV000539226] Chr10:43077253..43128275 [GRCh38]
Chr10:43572701..43623723 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_020975.6(RET):c.14C>G (p.Thr5Arg) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001042075] Chr10:43077272 [GRCh38]
Chr10:43572720 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_020975.6(RET):c.-51C>T single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV001106683]|Multiple endocrine neoplasia [RCV001105541]|Pheochromocytoma [RCV001106682]|Renal hypodysplasia/aplasia 1 [RCV001106684] Chr10:43077208 [GRCh38]
Chr10:43572656 [GRCh37]
Chr10:10q11.21		 uncertain significance
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
NM_020975.6(RET):c.-37G>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000526991]|not provided [RCV002225663] Chr10:43077222 [GRCh38]
Chr10:43572670 [GRCh37]
Chr10:10q11.21		 likely benign|uncertain significance
NM_020975.6(RET):c.30G>A (p.Gly10=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018644]|Multiple endocrine neoplasia, type 2 [RCV000553487] Chr10:43077288 [GRCh38]
Chr10:43572736 [GRCh37]
Chr10:10q11.21		 likely benign
NM_020975.6(RET):c.16T>G (p.Ser6Ala) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000811238] Chr10:43077274 [GRCh38]
Chr10:43572722 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_020975.6(RET):c.30G>T (p.Gly10=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000819741] Chr10:43077288 [GRCh38]
Chr10:43572736 [GRCh37]
Chr10:10q11.21		 uncertain significance
NC_000010.10:g.(?_43572697)_(43623727_?)dup duplication Multiple endocrine neoplasia, type 2 [RCV000820581] Chr10:43077249..43128279 [GRCh38]
Chr10:43572697..43623727 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_020630.5(RET):c.-234_-230dup microsatellite Multiple endocrine neoplasia, type 2a [RCV000030400] Chr10:43077010..43077011 [GRCh38]
Chr10:43572458..43572459 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_020975.6(RET):c.6G>A (p.Ala2=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002363466]|Multiple endocrine neoplasia, type 2 [RCV000946319] Chr10:43077264 [GRCh38]
Chr10:43572712 [GRCh37]
Chr10:10q11.21		 likely benign
NM_020975.6(RET):c.31C>T (p.Leu11=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002325102]|Hirschsprung disease, susceptibility to, 1 [RCV002491106]|Multiple endocrine neoplasia, type 2 [RCV000547016] Chr10:43077289 [GRCh38]
Chr10:43572737 [GRCh37]
Chr10:10q11.21		 likely benign
NM_020975.6(RET):c.29G>A (p.Gly10Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002438769]|Multiple endocrine neoplasia, type 2 [RCV001338708] Chr10:43077287 [GRCh38]
Chr10:43572735 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_020975.6(RET):c.16T>C (p.Ser6Pro) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001309613] Chr10:43077274 [GRCh38]
Chr10:43572722 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_020975.6(RET):c.10G>A (p.Ala4Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003382525]|Multiple endocrine neoplasia, type 2 [RCV001323974] Chr10:43077268 [GRCh38]
Chr10:43572716 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_020975.6(RET):c.35_55dup (p.Leu18_Leu19insArgLeuLeuLeuLeuLeuLeu) duplication Hereditary cancer-predisposing syndrome [RCV002456583]|Multiple endocrine neoplasia, type 2 [RCV001371496] Chr10:43077287..43077288 [GRCh38]
Chr10:43572735..43572736 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_020975.6(RET):c.5_28dup (p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla) duplication Hereditary cancer-predisposing syndrome [RCV002350589]|Multiple endocrine neoplasia, type 2 [RCV001320496]|not specified [RCV003321826] Chr10:43077260..43077261 [GRCh38]
Chr10:43572708..43572709 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_020975.6(RET):c.35_52dup (p.Leu17_Leu18insArgLeuLeuLeuLeuLeu) duplication Hereditary cancer-predisposing syndrome [RCV002456553]|Multiple endocrine neoplasia, type 2 [RCV001362298] Chr10:43077287..43077288 [GRCh38]
Chr10:43572735..43572736 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_020975.6(RET):c.19G>A (p.Gly7Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003373102]|Multiple endocrine neoplasia, type 2 [RCV001297483] Chr10:43077277 [GRCh38]
Chr10:43572725 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_020975.6(RET):c.-68C>T single nucleotide variant not provided [RCV001611274] Chr10:43077191 [GRCh38]
Chr10:43572639 [GRCh37]
Chr10:10q11.21		 benign
NM_020975.6(RET):c.-6C>T single nucleotide variant not provided [RCV001779783] Chr10:43077253 [GRCh38]
Chr10:43572701 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_020975.6(RET):c.29G>C (p.Gly10Ala) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001949764] Chr10:43077287 [GRCh38]
Chr10:43572735 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_020975.6(RET):c.14C>T (p.Thr5Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002388990]|Multiple endocrine neoplasia, type 2 [RCV002003551] Chr10:43077272 [GRCh38]
Chr10:43572720 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_020975.6(RET):c.20G>T (p.Gly7Val) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001916021] Chr10:43077278 [GRCh38]
Chr10:43572726 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_020975.6(RET):c.-1G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002417147] Chr10:43077258 [GRCh38]
Chr10:43572706 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_020975.6(RET):c.-5G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002358002] Chr10:43077254 [GRCh38]
Chr10:43572702 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_020975.6(RET):c.13A>G (p.Thr5Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002389230]|Multiple endocrine neoplasia, type 2 [RCV003095091] Chr10:43077271 [GRCh38]
Chr10:43572719 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_020975.6(RET):c.24C>T (p.Ala8=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002431079] Chr10:43077282 [GRCh38]
Chr10:43572730 [GRCh37]
Chr10:10q11.21		 likely benign
NM_020975.6(RET):c.-3G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002321170] Chr10:43077256 [GRCh38]
Chr10:43572704 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_020975.6(RET):c.18C>G (p.Ser6=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002408222] Chr10:43077276 [GRCh38]
Chr10:43572724 [GRCh37]
Chr10:10q11.21		 likely benign
NM_020975.6(RET):c.15G>T (p.Thr5=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002398678] Chr10:43077273 [GRCh38]
Chr10:43572721 [GRCh37]
Chr10:10q11.21		 likely benign
NM_020975.6(RET):c.27G>A (p.Ala9=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002441568] Chr10:43077285 [GRCh38]
Chr10:43572733 [GRCh37]
Chr10:10q11.21		 likely benign
NM_020975.6(RET):c.18C>A (p.Ser6=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002408217] Chr10:43077276 [GRCh38]
Chr10:43572724 [GRCh37]
Chr10:10q11.21		 likely benign
NM_020975.6(RET):c.23C>T (p.Ala8Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002450247] Chr10:43077281 [GRCh38]
Chr10:43572729 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_020975.6(RET):c.27G>C (p.Ala9=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002441573] Chr10:43077285 [GRCh38]
Chr10:43572733 [GRCh37]
Chr10:10q11.21		 likely benign
NM_020975.6(RET):c.-7_-4del deletion Hereditary cancer-predisposing syndrome [RCV002378242] Chr10:43077252..43077255 [GRCh38]
Chr10:43572700..43572703 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_020975.6(RET):c.15G>A (p.Thr5=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002735243] Chr10:43077273 [GRCh38]
Chr10:43572721 [GRCh37]
Chr10:10q11.21		 likely benign
NM_020975.6(RET):c.2_7dup (p.Ala2_Lys3insMetAla) duplication Hereditary cancer-predisposing syndrome [RCV003176489] Chr10:43077254..43077255 [GRCh38]
Chr10:43572702..43572703 [GRCh37]
Chr10:10q11.21		 likely benign
NM_020975.6(RET):c.21T>C (p.Gly7=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003283617] Chr10:43077279 [GRCh38]
Chr10:43572727 [GRCh37]
Chr10:10q11.21		 likely benign
NM_020975.6(RET):c.5C>A (p.Ala2Glu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003647159] Chr10:43077263 [GRCh38]
Chr10:43572711 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_020975.6(RET):c.6G>T (p.Ala2=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003531524] Chr10:43077264 [GRCh38]
Chr10:43572712 [GRCh37]
Chr10:10q11.21		 likely benign
NM_020975.6(RET):c.19G>C (p.Gly7Arg) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003534166] Chr10:43077277 [GRCh38]
Chr10:43572725 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_020975.6(RET):c.28G>A (p.Gly10Arg) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003534112] Chr10:43077286 [GRCh38]
Chr10:43572734 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_020975.6(RET):c.-23C>T single nucleotide variant RET-related condition [RCV003969775] Chr10:43077236 [GRCh38]
Chr10:43572684 [GRCh37]
Chr10:10q11.21		 likely benign
NM_020975.6(RET):c.22G>T (p.Ala8Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002429602]|Multiple endocrine neoplasia, type 2 [RCV001044660] Chr10:43077280 [GRCh38]
Chr10:43572728 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_020975.6(RET):c.29G>T (p.Gly10Val) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001205118] Chr10:43077287 [GRCh38]
Chr10:43572735 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_020975.6(RET):c.-173A>G single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV001103593]|Multiple endocrine neoplasia [RCV001103594]|Pheochromocytoma [RCV001108760]|Renal hypodysplasia/aplasia 1 [RCV001103595] Chr10:43077086 [GRCh38]
Chr10:43572534 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_020975.6(RET):c.-160G>T single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV001103597]|Multiple endocrine neoplasia [RCV001103599]|Pheochromocytoma [RCV001103598]|Renal hypodysplasia/aplasia 1 [RCV001103596]|not provided [RCV003413914] Chr10:43077099 [GRCh38]
Chr10:43572547 [GRCh37]
Chr10:10q11.21		 benign|likely benign
NM_020975.6(RET):c.11C>T (p.Ala4Val) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001066496] Chr10:43077269 [GRCh38]
Chr10:43572717 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_020975.6(RET):c.-4G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023397] Chr10:43077255 [GRCh38]
Chr10:43572703 [GRCh37]
Chr10:10q11.21		 uncertain significance

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC106736614 COSMIC
GTEx LOC106736614 GTEx
Human Proteome Map LOC106736614 Human Proteome Map
NCBI Gene LOC106736614 ENTREZGENE