LOC111982869 (Sharpr-MPRA regulatory region 2121) - Rat Genome Database

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Gene: LOC111982869 (Sharpr-MPRA regulatory region 2121) Homo sapiens
Analyze
Symbol: LOC111982869
Name: Sharpr-MPRA regulatory region 2121
RGD ID: 38667992
Description: This genomic sequence was predicted to be a transcriptional regulatory region based on chromatin state analysis from the ENCODE (ENCyclopedia Of DNA Elements) project. It was validated as a functional enhancer by the Sharpr-MPRA technique (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 4:PromP, inactive/poised promoter, highly conserved). [provided by RefSeq, Feb 2018]
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
GRCh381071,805,832 - 71,806,126 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371073,565,589 - 73,565,883 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map10qNCBI
T2T-CHM13v2.01072,676,559 - 72,676,853 (+)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:27701403  


Genomics

Variants

.
Variants in LOC111982869
81 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_022124.6(CDH23):c.7987TTC[1] (p.Phe2664del) microsatellite Hearing loss, autosomal recessive [RCV001291221]|Pituitary adenoma 5, multiple types [RCV003473848]|Usher syndrome type 1 [RCV001836256]|not provided [RCV001378790] Chr10:71805920..71805922 [GRCh38]
Chr10:73565677..73565679 [GRCh37]
Chr10:10q22.1		 pathogenic|likely pathogenic
NM_022124.6(CDH23):c.7899C>G (p.Tyr2633Ter) single nucleotide variant Pituitary adenoma 5, multiple types [RCV003473770]|not provided [RCV001218303] Chr10:71805832 [GRCh38]
Chr10:73565589 [GRCh37]
Chr10:10q22.1		 pathogenic|likely pathogenic
NM_022124.6(CDH23):c.8064+33C>A single nucleotide variant not provided [RCV001557700] Chr10:71806030 [GRCh38]
Chr10:73565787 [GRCh37]
Chr10:10q22.1		 likely benign
NM_022124.6(CDH23):c.7999G>C (p.Asp2667His) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV000372850]|CDH23-Related Disorders [RCV000334832]|Usher syndrome type 1D [RCV000280892]|not provided [RCV000911402] Chr10:71805932 [GRCh38]
Chr10:73565689 [GRCh37]
Chr10:10q22.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022124.6(CDH23):c.8053G>T (p.Ala2685Ser) single nucleotide variant Usher syndrome type 2 [RCV001199450] Chr10:71805986 [GRCh38]
Chr10:73565743 [GRCh37]
Chr10:10q22.1		 pathogenic
GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3 copy number gain See cases [RCV000138007] Chr10:50729367..87147204 [GRCh38]
Chr10:52489127..88906961 [GRCh37]
Chr10:52159133..88896941 [NCBI36]
Chr10:10q11.23-23.2		 pathogenic
NM_022124.6(CDH23):c.7996A>G (p.Ile2666Val) single nucleotide variant Usher syndrome type 1 [RCV001828964]|not provided [RCV001241005] Chr10:71805929 [GRCh38]
Chr10:73565686 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_022124.6(CDH23):c.8064+1G>T single nucleotide variant Rare genetic deafness [RCV000603092]|not provided [RCV001222595] Chr10:71805998 [GRCh38]
Chr10:73565755 [GRCh37]
Chr10:10q22.1		 pathogenic|likely pathogenic
NM_022124.6(CDH23):c.8040C>T (p.Asp2680=) single nucleotide variant not provided [RCV001396761]|not specified [RCV000610168] Chr10:71805973 [GRCh38]
Chr10:73565730 [GRCh37]
Chr10:10q22.1		 likely benign
NM_022124.6(CDH23):c.7908C>G (p.Tyr2636Ter) single nucleotide variant Pituitary adenoma 5, multiple types [RCV003475052]|Retinal dystrophy [RCV000225547]|not provided [RCV000760510] Chr10:71805841 [GRCh38]
Chr10:73565598 [GRCh37]
Chr10:10q22.1		 pathogenic|likely pathogenic
NM_022124.6(CDH23):c.8054C>T (p.Ala2685Val) single nucleotide variant Usher syndrome type 1 [RCV001834596]|not provided [RCV000493616] Chr10:71805987 [GRCh38]
Chr10:73565744 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_022124.6(CDH23):c.8009G>A (p.Ser2670Asn) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV000408014]|CDH23-Related Disorders [RCV000338254]|Usher syndrome type 1D [RCV000313902] Chr10:71805942 [GRCh38]
Chr10:73565699 [GRCh37]
Chr10:10q22.1		 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_022124.6(CDH23):c.7919_7925dup (p.Gly2643_Leu2644insTerGly) duplication not provided [RCV001041174] Chr10:71805850..71805851 [GRCh38]
Chr10:73565607..73565608 [GRCh37]
Chr10:10q22.1		 pathogenic
GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1 copy number loss See cases [RCV000136658] Chr10:63402579..75296099 [GRCh38]
Chr10:65162339..77055857 [GRCh37]
Chr10:64832345..76725863 [NCBI36]
Chr10:10q21.3-22.2		 pathogenic|likely benign
NM_022124.6(CDH23):c.7938G>C (p.Gly2646=) single nucleotide variant not provided [RCV000932944] Chr10:71805871 [GRCh38]
Chr10:73565628 [GRCh37]
Chr10:10q22.1		 likely benign
NM_022124.6(CDH23):c.7979_7986del (p.Asp2660fs) deletion Rare genetic deafness [RCV000156071] Chr10:71805911..71805918 [GRCh38]
Chr10:73565668..73565675 [GRCh37]
Chr10:10q22.1		 pathogenic
GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3 copy number gain See cases [RCV000135438] Chr10:67196567..79422057 [GRCh38]
Chr10:68956325..81181813 [GRCh37]
Chr10:68626331..80851819 [NCBI36]
Chr10:10q21.3-22.3		 pathogenic
NM_022124.6(CDH23):c.8061C>G (p.Tyr2687Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV000761262] Chr10:71805994 [GRCh38]
Chr10:73565751 [GRCh37]
Chr10:10q22.1		 likely pathogenic
NM_022124.6(CDH23):c.7903G>T (p.Val2635Phe) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV000225060]|not provided [RCV001853435]|not specified [RCV000216327] Chr10:71805836 [GRCh38]
Chr10:73565593 [GRCh37]
Chr10:10q22.1		 pathogenic|uncertain significance
NM_022124.6(CDH23):c.8064+13C>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV001105931]|Usher syndrome type 1D [RCV001105932]|not provided [RCV002069745] Chr10:71806010 [GRCh38]
Chr10:73565767 [GRCh37]
Chr10:10q22.1		 likely benign|uncertain significance
GRCh38/hg38 10q21.2-22.2(chr10:62229688-74468143)x1 copy number loss See cases [RCV000052530] Chr10:62229688..74468143 [GRCh38]
Chr10:63989447..76227901 [GRCh37]
Chr10:63659453..75897907 [NCBI36]
Chr10:10q21.2-22.2		 pathogenic
NM_022124.6(CDH23):c.7921G>C (p.Asp2641His) single nucleotide variant Rare genetic deafness [RCV000039277] Chr10:71805854 [GRCh38]
Chr10:73565611 [GRCh37]
Chr10:10q22.1		 likely pathogenic
NM_022124.6(CDH23):c.7936G>C (p.Gly2646Arg) single nucleotide variant Usher syndrome type 1 [RCV001835297]|not provided [RCV001247459] Chr10:71805869 [GRCh38]
Chr10:73565626 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_022124.6(CDH23):c.8022G>A (p.Gln2674=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV001105928]|CDH23-related condition [RCV003924943]|Usher syndrome type 1 [RCV001276915]|Usher syndrome type 1D [RCV001105927]|not provided [RCV000488300]|not specified [RCV000039279] Chr10:71805955 [GRCh38]
Chr10:73565712 [GRCh37]
Chr10:10q22.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_022124.6(CDH23):c.8062A>G (p.Ser2688Gly) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV001105930]|Usher syndrome type 1D [RCV001105929]|not provided [RCV001873504] Chr10:71805995 [GRCh38]
Chr10:73565752 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_022124.6(CDH23):c.7998C>T (p.Ile2666=) single nucleotide variant not provided [RCV000979960] Chr10:71805931 [GRCh38]
Chr10:73565688 [GRCh37]
Chr10:10q22.1		 likely benign
NM_022124.6(CDH23):c.7908C>T (p.Tyr2636=) single nucleotide variant not provided [RCV000978594] Chr10:71805841 [GRCh38]
Chr10:73565598 [GRCh37]
Chr10:10q22.1		 likely benign
GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1 copy number loss See cases [RCV000052511] Chr10:58436466..74415216 [GRCh38]
Chr10:60196226..76174974 [GRCh37]
Chr10:59866232..75844980 [NCBI36]
Chr10:10q21.1-22.2		 pathogenic
NM_022124.6(CDH23):c.8007C>T (p.Ile2669=) single nucleotide variant not provided [RCV001422748] Chr10:71805940 [GRCh38]
Chr10:73565697 [GRCh37]
Chr10:10q22.1		 likely benign
NM_022124.6(CDH23):c.7978del (p.Asp2660fs) deletion Usher syndrome type 1D [RCV001374880] Chr10:71805909 [GRCh38]
Chr10:73565666 [GRCh37]
Chr10:10q22.1		 likely pathogenic
NM_022124.6(CDH23):c.7994T>C (p.Ile2665Thr) single nucleotide variant Usher syndrome type 1 [RCV001831116]|not provided [RCV001345732] Chr10:71805927 [GRCh38]
Chr10:73565684 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_022124.6(CDH23):c.7937G>A (p.Gly2646Glu) single nucleotide variant not provided [RCV001363863] Chr10:71805870 [GRCh38]
Chr10:73565627 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_022124.6(CDH23):c.8058G>A (p.Val2686=) single nucleotide variant not provided [RCV001395494] Chr10:71805991 [GRCh38]
Chr10:73565748 [GRCh37]
Chr10:10q22.1		 likely benign
NM_022124.6(CDH23):c.7938G>A (p.Gly2646=) single nucleotide variant not provided [RCV001421458] Chr10:71805871 [GRCh38]
Chr10:73565628 [GRCh37]
Chr10:10q22.1		 likely benign
NM_022124.6(CDH23):c.8028T>C (p.Ala2676=) single nucleotide variant not provided [RCV001470764] Chr10:71805961 [GRCh38]
Chr10:73565718 [GRCh37]
Chr10:10q22.1		 likely benign
NM_022124.6(CDH23):c.8055G>A (p.Ala2685=) single nucleotide variant not provided [RCV001471287] Chr10:71805988 [GRCh38]
Chr10:73565745 [GRCh37]
Chr10:10q22.1		 likely benign
NM_022124.6(CDH23):c.8055G>C (p.Ala2685=) single nucleotide variant not provided [RCV001449515] Chr10:71805988 [GRCh38]
Chr10:73565745 [GRCh37]
Chr10:10q22.1		 likely benign
NM_022124.6(CDH23):c.7935C>T (p.Asn2645=) single nucleotide variant not provided [RCV001461374] Chr10:71805868 [GRCh38]
Chr10:73565625 [GRCh37]
Chr10:10q22.1		 likely benign
NM_022124.6(CDH23):c.8025T>C (p.Thr2675=) single nucleotide variant not provided [RCV001463721] Chr10:71805958 [GRCh38]
Chr10:73565715 [GRCh37]
Chr10:10q22.1		 likely benign
NM_022124.6(CDH23):c.8004A>T (p.Pro2668=) single nucleotide variant not provided [RCV001481502] Chr10:71805937 [GRCh38]
Chr10:73565694 [GRCh37]
Chr10:10q22.1		 likely benign
NM_022124.6(CDH23):c.8064+1G>A single nucleotide variant Usher syndrome [RCV002509678]|Usher syndrome type 1 [RCV001826138]|not provided [RCV001378340] Chr10:71805998 [GRCh38]
Chr10:73565755 [GRCh37]
Chr10:10q22.1		 pathogenic|likely pathogenic
NM_022124.6(CDH23):c.7941G>A (p.Ala2647=) single nucleotide variant not provided [RCV001432189] Chr10:71805874 [GRCh38]
Chr10:73565631 [GRCh37]
Chr10:10q22.1		 likely benign
NM_022124.6(CDH23):c.7926G>A (p.Glu2642=) single nucleotide variant CDH23-related condition [RCV003898394]|not provided [RCV001397798] Chr10:71805859 [GRCh38]
Chr10:73565616 [GRCh37]
Chr10:10q22.1		 likely benign
NM_022124.6(CDH23):c.7921G>A (p.Asp2641Asn) single nucleotide variant not provided [RCV001384786] Chr10:71805854 [GRCh38]
Chr10:73565611 [GRCh37]
Chr10:10q22.1		 pathogenic
NM_022124.6(CDH23):c.8064+20C>T single nucleotide variant not provided [RCV001928150] Chr10:71806017 [GRCh38]
Chr10:73565774 [GRCh37]
Chr10:10q22.1		 likely benign|uncertain significance
NM_022124.6(CDH23):c.8012G>A (p.Gly2671Asp) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV001822941] Chr10:71805945 [GRCh38]
Chr10:73565702 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_022124.6(CDH23):c.7928G>A (p.Gly2643Asp) single nucleotide variant not provided [RCV001863476] Chr10:71805861 [GRCh38]
Chr10:73565618 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_022124.6(CDH23):c.8057T>C (p.Val2686Ala) single nucleotide variant not provided [RCV002543331]|not specified [RCV001844719] Chr10:71805990 [GRCh38]
Chr10:73565747 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_022124.6(CDH23):c.8064+8C>T single nucleotide variant not provided [RCV001969386] Chr10:71806005 [GRCh38]
Chr10:73565762 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_022124.6(CDH23):c.8054_8055del (p.Ala2685fs) deletion not provided [RCV002007098] Chr10:71805986..71805987 [GRCh38]
Chr10:73565743..73565744 [GRCh37]
Chr10:10q22.1		 pathogenic
NM_022124.6(CDH23):c.8032C>T (p.Arg2678Cys) single nucleotide variant not provided [RCV001867221] Chr10:71805965 [GRCh38]
Chr10:73565722 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_022124.6(CDH23):c.7939G>A (p.Ala2647Thr) single nucleotide variant not provided [RCV001887374] Chr10:71805872 [GRCh38]
Chr10:73565629 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_022124.6(CDH23):c.7901_7902del (p.Glu2634fs) deletion not provided [RCV001941586] Chr10:71805833..71805834 [GRCh38]
Chr10:73565590..73565591 [GRCh37]
Chr10:10q22.1		 pathogenic
NM_022124.6(CDH23):c.7942G>A (p.Val2648Met) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV002503622]|not provided [RCV001921368] Chr10:71805875 [GRCh38]
Chr10:73565632 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_022124.6(CDH23):c.8044G>C (p.Glu2682Gln) single nucleotide variant not provided [RCV001995803] Chr10:71805977 [GRCh38]
Chr10:73565734 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_022124.6(CDH23):c.7909G>C (p.Ala2637Pro) single nucleotide variant not provided [RCV001877339] Chr10:71805842 [GRCh38]
Chr10:73565599 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_022124.6(CDH23):c.7990T>A (p.Phe2664Ile) single nucleotide variant not provided [RCV001936530] Chr10:71805923 [GRCh38]
Chr10:73565680 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_022124.6(CDH23):c.8027C>T (p.Ala2676Val) single nucleotide variant not provided [RCV002010533] Chr10:71805960 [GRCh38]
Chr10:73565717 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_022124.6(CDH23):c.7900G>A (p.Glu2634Lys) single nucleotide variant not provided [RCV001937048] Chr10:71805833 [GRCh38]
Chr10:73565590 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_022124.6(CDH23):c.8035C>T (p.Leu2679=) single nucleotide variant not provided [RCV002168203] Chr10:71805968 [GRCh38]
Chr10:73565725 [GRCh37]
Chr10:10q22.1		 likely benign
NM_022124.6(CDH23):c.7971C>A (p.Gly2657=) single nucleotide variant not provided [RCV002191270] Chr10:71805904 [GRCh38]
Chr10:73565661 [GRCh37]
Chr10:10q22.1		 likely benign
NM_022124.6(CDH23):c.8064+10_8064+21del deletion not provided [RCV002212047] Chr10:71806004..71806015 [GRCh38]
Chr10:73565761..73565772 [GRCh37]
Chr10:10q22.1		 likely benign
NM_022124.6(CDH23):c.8061C>T (p.Tyr2687=) single nucleotide variant not provided [RCV002097717] Chr10:71805994 [GRCh38]
Chr10:73565751 [GRCh37]
Chr10:10q22.1		 likely benign
NM_022124.6(CDH23):c.8005A>G (p.Ile2669Val) single nucleotide variant not specified [RCV002223098] Chr10:71805938 [GRCh38]
Chr10:73565695 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_022124.6(CDH23):c.7914G>C (p.Thr2638=) single nucleotide variant not provided [RCV002143222] Chr10:71805847 [GRCh38]
Chr10:73565604 [GRCh37]
Chr10:10q22.1		 likely benign
NM_022124.6(CDH23):c.7917C>T (p.Asp2639=) single nucleotide variant not provided [RCV002120810] Chr10:71805850 [GRCh38]
Chr10:73565607 [GRCh37]
Chr10:10q22.1		 likely benign
NM_022124.6(CDH23):c.7962G>A (p.Lys2654=) single nucleotide variant not provided [RCV002156087] Chr10:71805895 [GRCh38]
Chr10:73565652 [GRCh37]
Chr10:10q22.1		 likely benign
NM_022124.6(CDH23):c.7899C>T (p.Tyr2633=) single nucleotide variant not provided [RCV002202790] Chr10:71805832 [GRCh38]
Chr10:73565589 [GRCh37]
Chr10:10q22.1		 likely benign
NM_022124.6(CDH23):c.7972A>C (p.Asn2658His) single nucleotide variant Inborn genetic diseases [RCV002971240]|not provided [RCV002971241] Chr10:71805905 [GRCh38]
Chr10:73565662 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_022124.6(CDH23):c.7919A>G (p.Lys2640Arg) single nucleotide variant not provided [RCV003017775] Chr10:71805852 [GRCh38]
Chr10:73565609 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_022124.6(CDH23):c.8004A>G (p.Pro2668=) single nucleotide variant not provided [RCV002976476] Chr10:71805937 [GRCh38]
Chr10:73565694 [GRCh37]
Chr10:10q22.1		 likely benign
NM_022124.6(CDH23):c.7975del (p.Arg2659fs) deletion not provided [RCV002885366] Chr10:71805907 [GRCh38]
Chr10:73565664 [GRCh37]
Chr10:10q22.1		 pathogenic
NM_022124.6(CDH23):c.8064+17G>C single nucleotide variant not provided [RCV002575817] Chr10:71806014 [GRCh38]
Chr10:73565771 [GRCh37]
Chr10:10q22.1		 likely benign
NM_022124.6(CDH23):c.8053_8054delinsTT (p.Ala2685Leu) indel not provided [RCV002932416] Chr10:71805986..71805987 [GRCh38]
Chr10:73565743..73565744 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_022124.6(CDH23):c.8064+15del deletion not provided [RCV002852499] Chr10:71806010 [GRCh38]
Chr10:73565767 [GRCh37]
Chr10:10q22.1		 likely benign
NM_022124.6(CDH23):c.8025T>A (p.Thr2675=) single nucleotide variant not provided [RCV003041665] Chr10:71805958 [GRCh38]
Chr10:73565715 [GRCh37]
Chr10:10q22.1		 likely benign
NM_022124.6(CDH23):c.7985_7988dup (p.Phe2663fs) duplication not provided [RCV002914984] Chr10:71805917..71805918 [GRCh38]
Chr10:73565674..73565675 [GRCh37]
Chr10:10q22.1		 pathogenic
NM_022124.6(CDH23):c.7989C>G (p.Phe2663Leu) single nucleotide variant not provided [RCV002806580] Chr10:71805922 [GRCh38]
Chr10:73565679 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_022124.6(CDH23):c.8031G>A (p.Gln2677=) single nucleotide variant not provided [RCV002938453] Chr10:71805964 [GRCh38]
Chr10:73565721 [GRCh37]
Chr10:10q22.1		 likely benign
NM_022124.6(CDH23):c.8009G>T (p.Ser2670Ile) single nucleotide variant not provided [RCV002631459] Chr10:71805942 [GRCh38]
Chr10:73565699 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_022124.6(CDH23):c.7909G>A (p.Ala2637Thr) single nucleotide variant not provided [RCV003073434] Chr10:71805842 [GRCh38]
Chr10:73565599 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_022124.6(CDH23):c.7977G>C (p.Arg2659=) single nucleotide variant not provided [RCV002584738] Chr10:71805910 [GRCh38]
Chr10:73565667 [GRCh37]
Chr10:10q22.1		 likely benign
NM_022124.6(CDH23):c.8000A>G (p.Asp2667Gly) single nucleotide variant not provided [RCV002589300] Chr10:71805933 [GRCh38]
Chr10:73565690 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_022124.6(CDH23):c.7956C>T (p.Phe2652=) single nucleotide variant not provided [RCV002612154] Chr10:71805889 [GRCh38]
Chr10:73565646 [GRCh37]
Chr10:10q22.1		 likely benign
NM_022124.6(CDH23):c.7908C>A (p.Tyr2636Ter) single nucleotide variant Pituitary adenoma 5, multiple types [RCV003474533] Chr10:71805841 [GRCh38]
Chr10:73565598 [GRCh37]
Chr10:10q22.1		 pathogenic
NM_022124.6(CDH23):c.8064+18_8064+29del deletion not provided [RCV003693395] Chr10:71806012..71806023 [GRCh38]
Chr10:73565769..73565780 [GRCh37]
Chr10:10q22.1		 likely benign
NM_022124.6(CDH23):c.8020C>T (p.Gln2674Ter) single nucleotide variant not provided [RCV003544389] Chr10:71805953 [GRCh38]
Chr10:73565710 [GRCh37]
Chr10:10q22.1		 pathogenic
NM_022124.6(CDH23):c.7957C>T (p.Leu2653=) single nucleotide variant not provided [RCV003665529] Chr10:71805890 [GRCh38]
Chr10:73565647 [GRCh37]
Chr10:10q22.1		 likely benign
NM_022124.6(CDH23):c.8064+9G>A single nucleotide variant not provided [RCV003667630] Chr10:71806006 [GRCh38]
Chr10:73565763 [GRCh37]
Chr10:10q22.1		 likely benign
NM_022124.6(CDH23):c.7950C>T (p.Tyr2650=) single nucleotide variant not provided [RCV003698661] Chr10:71805883 [GRCh38]
Chr10:73565640 [GRCh37]
Chr10:10q22.1		 likely benign
NM_022124.6(CDH23):c.7989C>T (p.Phe2663=) single nucleotide variant not provided [RCV003707140] Chr10:71805922 [GRCh38]
Chr10:73565679 [GRCh37]
Chr10:10q22.1		 likely benign
NM_022124.6(CDH23):c.7968G>A (p.Ala2656=) single nucleotide variant not provided [RCV003733509] Chr10:71805901 [GRCh38]
Chr10:73565658 [GRCh37]
Chr10:10q22.1		 likely benign
NM_022124.6(CDH23):c.8013C>T (p.Gly2671=) single nucleotide variant not provided [RCV003853810] Chr10:71805946 [GRCh38]
Chr10:73565703 [GRCh37]
Chr10:10q22.1		 likely benign
NM_022124.6(CDH23):c.8064+12G>A single nucleotide variant not provided [RCV003866956] Chr10:71806009 [GRCh38]
Chr10:73565766 [GRCh37]
Chr10:10q22.1		 likely benign
NM_022124.6(CDH23):c.8034C>A (p.Arg2678=) single nucleotide variant not provided [RCV003718621] Chr10:71805967 [GRCh38]
Chr10:73565724 [GRCh37]
Chr10:10q22.1		 likely benign
NM_022124.6(CDH23):c.8064+15C>T single nucleotide variant not provided [RCV003683584] Chr10:71806012 [GRCh38]
Chr10:73565769 [GRCh37]
Chr10:10q22.1		 likely benign
NM_022124.6(CDH23):c.7959G>A (p.Leu2653=) single nucleotide variant not provided [RCV003675908] Chr10:71805892 [GRCh38]
Chr10:73565649 [GRCh37]
Chr10:10q22.1		 likely benign
NM_022124.6(CDH23):c.7914G>T (p.Thr2638=) single nucleotide variant not provided [RCV003683243] Chr10:71805847 [GRCh38]
Chr10:73565604 [GRCh37]
Chr10:10q22.1		 likely benign

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC111982869 COSMIC
GTEx LOC111982869 GTEx
Human Proteome Map LOC111982869 Human Proteome Map
NCBI Gene LOC111982869 ENTREZGENE