RGD:8597357 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:8597357 -  Homo sapiens

RGD ID: 8597357
RS ID: rs113993959
ClinVar ID: CV22154
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CFTR  LOC111674475  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 117,227,832
GRCh38 7 117,587,778
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_000007.14:g.117587778G>T
NC_000007.13:g.117227832G>T
NG_016465.1:g.112816G>T
NP_000483.3:p.Gly542*
More... 		01/01/2020 nonsense|stop-gain pathogenic|drug response|not provided adolescent|all ages|childhood|neonatal/infancy 1-5 / 10 000|1-9 / 1 000 000|1-9 / 100 000 Congenital bilateral aplasia of vas deferens from CFTR mutation; Cystic fibrosis; Cystic Fibrosis-Like Syndrome; Hereditary chronic pancreatitis; Hereditary pancreatitis; Mucoviscidosis; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CFTR
Accession:NM_000492
Location:EXON
Amino Acid Prediction: G to * (nonsynonymous)
Amino Acid Position: 542
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRSPLEKASVVSKLFFSWTRPILRKGYRQRLELSDIYQIPSVDSADNLSEKLEREWDRELASKKNPKLINALRRCFFWR
FMFYGIFLYLGEVTKAVQPLLLGRIIASYDPDNKEERSIAIYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSLI
YKKTLKLSSRVLDKISIGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVALLMGLIWELLQASAFCGLGFLIVLALFQAGL
GRMMMKYRDQRAGKISERLVITSEMIENIQSVKAYCWEEAMEKMIENLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFL
SVLPYALIKGIILRKIFTTISFCIVLRMAVTRQFPWAVQTWYDSLGAINKIQDFLQKQEYKTLEYNLTTTEVVMENVTAF
WEEGFGELFEKAKQNNNNRKTSNGDDSLFFSNFSLLGTPVLKDINFKIERGQLLAVAGSTGAGKTSLLMVIMGELEPSEG
KIKHSGRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEEDISKFAEKDNIVL*EGGITLSGGQRARISLAR
AVYKDADLYLLDSPFGYLDVLTEKEIFESCVCKLMANKTRILVTSKMEHLKKADKILILHEGSSYFYGTFSELQNLQPDF
SSKLMGCDSFDQFSAERRNSILTETLHRFSLEGDAPVSWTETKKQSFKQTGEFGEKRKNSILNPINSIRKFSIVQKTPLQ
MNGIEEDSDEPLERRLSLVPDSEQGEAILPRISVISTGPTLQARRRQSVLNLMTHSVNQGQNIHRKTTASTRKVSLAPQA
NLTELDIYSRRLSQETGLEISEEINEEDLKECFFDDMESIPAVTTWNTYLRYITVHKSLIFVLIWCLVIFLAEVAASLVV
LWLLGNTPLQDKGNSTHSRNNSYAVIITSTSSYYVFYIYVGVADTLLAMGFFRGLPLVHTLITVSKILHHKMLHSVLQAP
MSTLNTLKAGGILNRFSKDIAILDDLLPLTIFDFIQLLLIVIGAIAVVAVLQPYIFVATVPVIVAFIMLRAYFLQTSQQL
KQLESEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHKALNLHTANWFLYLSTLRWFQMRIEMIFVIFFIAVTFISIL
TTGEGEGRVGIILTLAMNIMSTLQWAVNSSIDVDSLMRSVSRVFKFIDMPTEGKPTKSTKPYKNGQLSKVMIIENSHVKK
DDIWPSGGQMTVKDLTAKYTEGGNAILENISFSISPGQRVGLLGRTGSGKSTLLSAFLRLLNTEGEIQIDGVSWDSITLQ
QWRKAFGVIPQKVFIFSGTFRKNLDPYEQWSDQEIWKVADEVGLRSVIEQFPGKLDFVLVDGGCVLSHGHKQLMCLARSV
LSKAKILLLDEPSAHLDPVTYQIIRRTLKQAFADCTVILCEHRIEAMLECQQFLVIEENKVRQYDSIQKLLNERSLFRQA
ISPSDRVKLFPHRNSSKCKSKPQIAALKEETEEEVQDTRL*
Variant Samples
Additional References at PubMed
PMID:1377276   PMID:1695717   PMID:1723032   PMID:1757966   PMID:2135388   PMID:2236053   PMID:2397487   PMID:5371902   PMID:7517267   PMID:7522901   PMID:7545856   PMID:7681035  
PMID:7691345   PMID:8528204   PMID:9056552   PMID:9164051   PMID:9235853   PMID:9725922   PMID:10639207   PMID:10963013   PMID:11280952   PMID:12124706   PMID:12767731   PMID:14586256  
PMID:15371902   PMID:15994263   PMID:18078365   PMID:18456578   PMID:20021716   PMID:20301428   PMID:21228398   PMID:21416780   PMID:21520337   PMID:21679131   PMID:21976147   PMID:22020151  
PMID:22658665   PMID:22975760   PMID:23751316   PMID:23951356   PMID:23974870   PMID:25087612   PMID:25525159   PMID:25741868   PMID:26467025   PMID:28492532   PMID:28603918   PMID:29261177  
PMID:29590070   PMID:29924856   PMID:30602999   PMID:31019283   PMID:31036917   PMID:31523618   PMID:31589614   PMID:32429104   PMID:34426522  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000007535 CLINVAR
  RCV000058931 CLINVAR
  RCV000119041 CLINVAR
  RCV000763572 CLINVAR
  RCV001004463 CLINVAR
  RCV001826428 CLINVAR
  RCV003407294 CLINVAR
  RCV003473006 CLINVAR
dbSNP (RS) rs113993959 CLINVAR
MedGen C0010674 CLINVAR
  C0238339 CLINVAR
  C2749757 CLINVAR
  C3661900 CLINVAR
NCBI Gene 111674475 CLINVAR
  CFTR CLINVAR
OMIM 167800 CLINVAR
  211400 CLINVAR
  219700 CLINVAR
  277180 CLINVAR
  602421 CLINVAR
OMIM Allele 602421.0009 CLINVAR
SNOMED CT 190905008 CLINVAR
  68072000 CLINVAR