RGD:12741476 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

Variant: RGD:12741476 -  Homo sapiens

RGD ID: 12741476
RS ID: rs1057519076
ClinVar ID: CV359090
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNN4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 44,273,957
GRCh38 19 43,769,805
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000019.10:g.43769805C>T
NC_000019.9:g.44273957C>T
NP_002241.1:p.Val282Met
NM_002250.3:c.844G>A
More... 		12/29/2021 missense variant pathogenic|likely pathogenic infancy <1 / 1 000 000 DESICCYTOSIS GARDOS; XEROCYTOSIS GARDOS
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNN4
Accession:XM_047438794
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 58
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHCRQAVNATGHLSDTLWLIPITFLTIGYGDVVPGTMWGKIVCLCTGVMGVCCTALLMAVVARKLEFNKAEKHVHNFMMD
IQYTKEMKESAARVLQEAWMFYKHTRRKESHAARRHQRKLLAAINAFRQVRLKHRKLREQVNSMVDISKMHMILYDLQQN
LSSSHRALEKQIDTLAGKLDALTELLSTALGPRQLPEPSQQSK*

Gene Symbol:KCNN4
Accession:XM_005258882
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 250
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGGDLVLGLGALRRRKRLLEQEKSLAGWALVLAGTGIGLMVLHAEMLWFGGCSLFMTDNGLRDWRVALTGRQAAQIVLEL
VVCGLHPAPVRGPPCVQDLGAPLTSPQPWPGFLGQGEALLSLAMLLRLYLVPRAVLLRSGVLLNASYRSIGALNQVRFRH
WFVAKLYMNTHPGRLLLGLTLGLWLTTAWVLSVAERQAVNATGHLSDTLWLIPITFLTIGYGDVVPGTMWGKIVCLCTGV
MGVCCTALLMAVVARKLEFNKAEKHVHNFMMDIQYTKEMKESAARVLQEAWMFYKHTRRKESHAARRHQRKLLAAINAFR
QVRLKHRKLREQVNSMVDISKMHMILYDLQQNLSSSHRALEKQIDTLAGKLDALTELLSTALGPRQLPEPSQQSK*

Gene Symbol:KCNN4
Accession:NM_002250
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 282
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGGDLVLGLGALRRRKRLLEQEKSLAGWALVLAGTGIGLMVLHAEMLWFGGCSWALYLFLVKCTISISTFLLLCLIVAFH
AKEVQLFMTDNGLRDWRVALTGRQAAQIVLELVVCGLHPAPVRGPPCVQDLGAPLTSPQPWPGFLGQGEALLSLAMLLRL
YLVPRAVLLRSGVLLNASYRSIGALNQVRFRHWFVAKLYMNTHPGRLLLGLTLGLWLTTAWVLSVAERQAVNATGHLSDT
LWLIPITFLTIGYGDVVPGTMWGKIVCLCTGVMGVCCTALLMAVVARKLEFNKAEKHVHNFMMDIQYTKEMKESAARVLQ
EAWMFYKHTRRKESHAARRHQRKLLAAINAFRQVRLKHRKLREQVNSMVDISKMHMILYDLQQNLSSSHRALEKQIDTLA
GKLDALTELLSTALGPRQLPEPSQQSK*

Gene Symbol:KCNN4
Accession:XM_005258883
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 219
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHDQHFHLLTPLPHRGLSCQRGPAVHDRQRAAGLARGADRAAGGADRAGAGGVWAAPGARAGPAVRAGFRGAADLPAALA
GIPGPRGSAAVPGHAAASLPGAPRRAPAQRRPAQRFLPQHRRSQSSPLPPLVRGQALHEHAPWPPAARPHAWPLADHRLG
AVRGREAVNATGHLSDTLWLIPITFLTIGYGDVVPGTMWGKIVCLCTGVMGVCCTALLMAVVARKLEFNKAEKHVHNFMM
DIQYTKEMKESAARVLQEAWMFYKHTRRKESHAARRHQRKLLAAINAFRQVRLKHRKLREQVNSMVDISKMHMILYDLQQ
NLSSSHRALEKQIDTLAGKLDALTELLSTALGPRQLPEPSQQSK*

Gene Symbol:KCNN4
Accession:XR_935823
Location:EXON;NON-CODING

Gene Symbol:KCNN4
Accession:XM_047438793
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:652816   PMID:687829   PMID:6473461   PMID:25741868   PMID:26178367   PMID:26198474  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000412590 CLINVAR
dbSNP (RS) rs1057519076 CLINVAR
MedGen C4225242 CLINVAR
NCBI Gene KCNN4 CLINVAR
OMIM 602754 CLINVAR
  616689 CLINVAR
OMIM Allele 602754.0002 CLINVAR