RGD:8614927 Rat Genome Database

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Variant: RGD:8614927 -  Homo sapiens

RGD ID: 8614927
RS ID: rs148519623
ClinVar ID: CV68725
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CFTR  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 117,176,652
GRCh38 7 117,536,598
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.117536598T>G
NC_000007.13:g.117176652T>G
NP_000483.3:p.Met265Arg
NG_016465.4:g.75815T>G
More... 		08/31/2021 missense|missense variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided 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


Variant Details
Variant Transcripts
Gene Symbol:CFTR
Accession:NM_000492
Location:EXON
Amino Acid Prediction: M to R (nonsynonymous)
Amino Acid Position: 265
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRSPLEKASVVSKLFFSWTRPILRKGYRQRLELSDIYQIPSVDSADNLSEKLEREWDRELASKKNPKLINALRRCFFWR
FMFYGIFLYLGEVTKAVQPLLLGRIIASYDPDNKEERSIAIYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSLI
YKKTLKLSSRVLDKISIGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVALLMGLIWELLQASAFCGLGFLIVLALFQAGL
GRMMMKYRDQRAGKISERLVITSERIENIQSVKAYCWEEAMEKMIENLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFL
SVLPYALIKGIILRKIFTTISFCIVLRMAVTRQFPWAVQTWYDSLGAINKIQDFLQKQEYKTLEYNLTTTEVVMENVTAF
WEEGFGELFEKAKQNNNNRKTSNGDDSLFFSNFSLLGTPVLKDINFKIERGQLLAVAGSTGAGKTSLLMVIMGELEPSEG
KIKHSGRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEEDISKFAEKDNIVLGEGGITLSGGQRARISLAR
AVYKDADLYLLDSPFGYLDVLTEKEIFESCVCKLMANKTRILVTSKMEHLKKADKILILHEGSSYFYGTFSELQNLQPDF
SSKLMGCDSFDQFSAERRNSILTETLHRFSLEGDAPVSWTETKKQSFKQTGEFGEKRKNSILNPINSIRKFSIVQKTPLQ
MNGIEEDSDEPLERRLSLVPDSEQGEAILPRISVISTGPTLQARRRQSVLNLMTHSVNQGQNIHRKTTASTRKVSLAPQA
NLTELDIYSRRLSQETGLEISEEINEEDLKECFFDDMESIPAVTTWNTYLRYITVHKSLIFVLIWCLVIFLAEVAASLVV
LWLLGNTPLQDKGNSTHSRNNSYAVIITSTSSYYVFYIYVGVADTLLAMGFFRGLPLVHTLITVSKILHHKMLHSVLQAP
MSTLNTLKAGGILNRFSKDIAILDDLLPLTIFDFIQLLLIVIGAIAVVAVLQPYIFVATVPVIVAFIMLRAYFLQTSQQL
KQLESEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHKALNLHTANWFLYLSTLRWFQMRIEMIFVIFFIAVTFISIL
TTGEGEGRVGIILTLAMNIMSTLQWAVNSSIDVDSLMRSVSRVFKFIDMPTEGKPTKSTKPYKNGQLSKVMIIENSHVKK
DDIWPSGGQMTVKDLTAKYTEGGNAILENISFSISPGQRVGLLGRTGSGKSTLLSAFLRLLNTEGEIQIDGVSWDSITLQ
QWRKAFGVIPQKVFIFSGTFRKNLDPYEQWSDQEIWKVADEVGLRSVIEQFPGKLDFVLVDGGCVLSHGHKQLMCLARSV
LSKAKILLLDEPSAHLDPVTYQIIRRTLKQAFADCTVILCEHRIEAMLECQQFLVIEENKVRQYDSIQKLLNERSLFRQA
ISPSDRVKLFPHRNSSKCKSKPQIAALKEETEEEVQDTRL*
Variant Samples
Additional References at PubMed
PMID:9272157   PMID:10913957   PMID:12900515   PMID:17440499   PMID:23666117   PMID:25735457   PMID:25741868   PMID:26467025   PMID:26471113   PMID:26708955   PMID:28492532   PMID:29805046  
PMID:30888834   PMID:34996830   PMID:36207272  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000671208 CLINVAR
  RCV001004238 CLINVAR
  RCV001811332 CLINVAR
  RCV001826698 CLINVAR
  RCV003474619 CLINVAR
dbSNP (RS) rs148519623 CLINVAR
MedGen C0010674 CLINVAR
  C2749757 CLINVAR
  C3661900 CLINVAR
NCBI Gene CFTR CLINVAR
OMIM 211400 CLINVAR
  219700 CLINVAR
  277180 CLINVAR
  602421 CLINVAR
SNOMED CT 190905008 CLINVAR