RGD:8569310 Rat Genome Database

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Variant: RGD:8569310 -  Homo sapiens

RGD ID: 8569310
RS ID: rs78769542
ClinVar ID: CV44530
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CFTR  LOC111674472  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 117,251,704
GRCh38 7 117,611,650
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.117611650G>A
NC_000007.13:g.117251704G>A
NP_000483.3:p.Arg1070Gln
LRG_663p1:p.Arg1070Gln
More... 		08/23/2021 missense|missense variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|drug response|uncertain significance|not provided adolescence / young adulthood|adolescent|all ages|neonatal/infancy 1-5 / 10 000|1-9 / 1 000 000|1-9 / 100 000 CFTR-related disorders; Congenital bilateral aplasia of vas deferens from CFTR mutation; Cystic Fibrosis-Like Syndrome; Mucoviscidosis; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:CFTR
Accession:NM_000492
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 1070
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRSPLEKASVVSKLFFSWTRPILRKGYRQRLELSDIYQIPSVDSADNLSEKLEREWDRELASKKNPKLINALRRCFFWR
FMFYGIFLYLGEVTKAVQPLLLGRIIASYDPDNKEERSIAIYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSLI
YKKTLKLSSRVLDKISIGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVALLMGLIWELLQASAFCGLGFLIVLALFQAGL
GRMMMKYRDQRAGKISERLVITSEMIENIQSVKAYCWEEAMEKMIENLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFL
SVLPYALIKGIILRKIFTTISFCIVLRMAVTRQFPWAVQTWYDSLGAINKIQDFLQKQEYKTLEYNLTTTEVVMENVTAF
WEEGFGELFEKAKQNNNNRKTSNGDDSLFFSNFSLLGTPVLKDINFKIERGQLLAVAGSTGAGKTSLLMVIMGELEPSEG
KIKHSGRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEEDISKFAEKDNIVLGEGGITLSGGQRARISLAR
AVYKDADLYLLDSPFGYLDVLTEKEIFESCVCKLMANKTRILVTSKMEHLKKADKILILHEGSSYFYGTFSELQNLQPDF
SSKLMGCDSFDQFSAERRNSILTETLHRFSLEGDAPVSWTETKKQSFKQTGEFGEKRKNSILNPINSIRKFSIVQKTPLQ
MNGIEEDSDEPLERRLSLVPDSEQGEAILPRISVISTGPTLQARRRQSVLNLMTHSVNQGQNIHRKTTASTRKVSLAPQA
NLTELDIYSRRLSQETGLEISEEINEEDLKECFFDDMESIPAVTTWNTYLRYITVHKSLIFVLIWCLVIFLAEVAASLVV
LWLLGNTPLQDKGNSTHSRNNSYAVIITSTSSYYVFYIYVGVADTLLAMGFFRGLPLVHTLITVSKILHHKMLHSVLQAP
MSTLNTLKAGGILNRFSKDIAILDDLLPLTIFDFIQLLLIVIGAIAVVAVLQPYIFVATVPVIVAFIMLRAYFLQTSQQL
KQLESEGRSPIFTHLVTSLKGLWTLRAFGQQPYFETLFHKALNLHTANWFLYLSTLRWFQMRIEMIFVIFFIAVTFISIL
TTGEGEGRVGIILTLAMNIMSTLQWAVNSSIDVDSLMRSVSRVFKFIDMPTEGKPTKSTKPYKNGQLSKVMIIENSHVKK
DDIWPSGGQMTVKDLTAKYTEGGNAILENISFSISPGQRVGLLGRTGSGKSTLLSAFLRLLNTEGEIQIDGVSWDSITLQ
QWRKAFGVIPQKVFIFSGTFRKNLDPYEQWSDQEIWKVADEVGLRSVIEQFPGKLDFVLVDGGCVLSHGHKQLMCLARSV
LSKAKILLLDEPSAHLDPVTYQIIRRTLKQAFADCTVILCEHRIEAMLECQQFLVIEENKVRQYDSIQKLLNERSLFRQA
ISPSDRVKLFPHRNSSKCKSKPQIAALKEETEEEVQDTRL*
Variant Samples
Additional References at PubMed
PMID:1284534   PMID:7512860   PMID:7529319   PMID:7539342   PMID:7544320   PMID:7683628   PMID:8662892   PMID:8702904   PMID:11242048   PMID:12007216   PMID:12955726   PMID:15880796  
PMID:16049310   PMID:16189704   PMID:17489851   PMID:18467194   PMID:18951463   PMID:19707853   PMID:20021716   PMID:21520337   PMID:22658665   PMID:22975760   PMID:22992668   PMID:23891399  
PMID:23974870   PMID:25087612   PMID:25741868   PMID:25826586   PMID:25910067   PMID:26014425   PMID:26467025   PMID:27171515   PMID:27209008   PMID:28492532   PMID:28546993   PMID:28603918  
PMID:29504914   PMID:30561903   PMID:30930780   PMID:36272381  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000046825 CLINVAR
  RCV000660859 CLINVAR
  RCV000724647 CLINVAR
  RCV001004301 CLINVAR
  RCV001009383 CLINVAR
  RCV001642236 CLINVAR
  RCV002228060 CLINVAR
  RCV003473141 CLINVAR
  RCV003904865 CLINVAR
dbSNP (RS) rs78769542 CLINVAR
MedGen C0010674 CLINVAR
  C2749757 CLINVAR
  C3661900 CLINVAR
  C4023106 CLINVAR
  CN322735 CLINVAR
NCBI Gene 111674472 CLINVAR
  CFTR CLINVAR
OMIM 211400 CLINVAR
  219700 CLINVAR
  277180 CLINVAR
  602421 CLINVAR
SNOMED CT 190905008 CLINVAR