RGD:8602724 Rat Genome Database

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Variant: RGD:8602724 -  Homo sapiens

RGD ID: 8602724
RS ID: rs121908805
ClinVar ID: CV44486
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CFTR  CFTR-AS1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 117,199,522
GRCh38 7 117,559,468
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.117559468C>G
NC_000007.13:g.117199522C>G
NP_000483.3:p.Ser466Ter
LRG_663p1:p.Ser466Ter
More... 		08/23/2021 nonsense|stop-gain pathogenic all ages|neonatal/infancy 1-5 / 10 000|1-9 / 100 000 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: S to * (nonsynonymous)
Amino Acid Position: 466
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRSPLEKASVVSKLFFSWTRPILRKGYRQRLELSDIYQIPSVDSADNLSEKLEREWDRELASKKNPKLINALRRCFFWR
FMFYGIFLYLGEVTKAVQPLLLGRIIASYDPDNKEERSIAIYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSLI
YKKTLKLSSRVLDKISIGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVALLMGLIWELLQASAFCGLGFLIVLALFQAGL
GRMMMKYRDQRAGKISERLVITSEMIENIQSVKAYCWEEAMEKMIENLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFL
SVLPYALIKGIILRKIFTTISFCIVLRMAVTRQFPWAVQTWYDSLGAINKIQDFLQKQEYKTLEYNLTTTEVVMENVTAF
WEEGFGELFEKAKQNNNNRKTSNGDDSLFFSNFSLLGTPVLKDINFKIERGQLLAVAGSTGAGKT*LLMVIMGELEPSEG
KIKHSGRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEEDISKFAEKDNIVLGEGGITLSGGQRARISLAR
AVYKDADLYLLDSPFGYLDVLTEKEIFESCVCKLMANKTRILVTSKMEHLKKADKILILHEGSSYFYGTFSELQNLQPDF
SSKLMGCDSFDQFSAERRNSILTETLHRFSLEGDAPVSWTETKKQSFKQTGEFGEKRKNSILNPINSIRKFSIVQKTPLQ
MNGIEEDSDEPLERRLSLVPDSEQGEAILPRISVISTGPTLQARRRQSVLNLMTHSVNQGQNIHRKTTASTRKVSLAPQA
NLTELDIYSRRLSQETGLEISEEINEEDLKECFFDDMESIPAVTTWNTYLRYITVHKSLIFVLIWCLVIFLAEVAASLVV
LWLLGNTPLQDKGNSTHSRNNSYAVIITSTSSYYVFYIYVGVADTLLAMGFFRGLPLVHTLITVSKILHHKMLHSVLQAP
MSTLNTLKAGGILNRFSKDIAILDDLLPLTIFDFIQLLLIVIGAIAVVAVLQPYIFVATVPVIVAFIMLRAYFLQTSQQL
KQLESEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHKALNLHTANWFLYLSTLRWFQMRIEMIFVIFFIAVTFISIL
TTGEGEGRVGIILTLAMNIMSTLQWAVNSSIDVDSLMRSVSRVFKFIDMPTEGKPTKSTKPYKNGQLSKVMIIENSHVKK
DDIWPSGGQMTVKDLTAKYTEGGNAILENISFSISPGQRVGLLGRTGSGKSTLLSAFLRLLNTEGEIQIDGVSWDSITLQ
QWRKAFGVIPQKVFIFSGTFRKNLDPYEQWSDQEIWKVADEVGLRSVIEQFPGKLDFVLVDGGCVLSHGHKQLMCLARSV
LSKAKILLLDEPSAHLDPVTYQIIRRTLKQAFADCTVILCEHRIEAMLECQQFLVIEENKVRQYDSIQKLLNERSLFRQA
ISPSDRVKLFPHRNSSKCKSKPQIAALKEETEEEVQDTRL*

Gene Symbol:CFTR-AS1
Accession:NR_149084
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:1695717   PMID:7509683   PMID:7691345   PMID:9725922   PMID:15365999   PMID:15727251   PMID:16436643   PMID:17627383   PMID:17662673   PMID:18951463   PMID:21198395   PMID:21296036  
PMID:23974870   PMID:24106596   PMID:24586523   PMID:24696795   PMID:25741868   PMID:25910067   PMID:26467025   PMID:28492532   PMID:28603918   PMID:31036917   PMID:31589614   PMID:32429104  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000029475 CLINVAR
  RCV000724154 CLINVAR
  RCV001004451 CLINVAR
  RCV001642234 CLINVAR
  RCV001826510 CLINVAR
  RCV003473124 CLINVAR
dbSNP (RS) rs121908805 CLINVAR
MedGen C0010674 CLINVAR
  C2749757 CLINVAR
  C3661900 CLINVAR
  C4023106 CLINVAR
NCBI Gene CFTR CLINVAR
  CFTR-AS1 CLINVAR
OMIM 211400 CLINVAR
  219700 CLINVAR
  277180 CLINVAR
  602421 CLINVAR
SNOMED CT 190905008 CLINVAR