RGD:8621969 Rat Genome Database

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Variant: RGD:8621969 -  Homo sapiens

RGD ID: 8621969
RS ID: rs139304906
ClinVar ID: CV68358
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CFTR  LOC111674472  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 117,251,725
GRCh38 7 117,611,671
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.117611671T>C
NC_000007.13:g.117251725T>C
NP_000483.3:p.Leu1077Pro
NG_016465.4:g.150888T>C
More... 		09/11/2017 missense|missense variant 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


Variant Details
Variant Transcripts
Gene Symbol:CFTR
Accession:NM_000492
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 1077
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRSPLEKASVVSKLFFSWTRPILRKGYRQRLELSDIYQIPSVDSADNLSEKLEREWDRELASKKNPKLINALRRCFFWR
FMFYGIFLYLGEVTKAVQPLLLGRIIASYDPDNKEERSIAIYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSLI
YKKTLKLSSRVLDKISIGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVALLMGLIWELLQASAFCGLGFLIVLALFQAGL
GRMMMKYRDQRAGKISERLVITSEMIENIQSVKAYCWEEAMEKMIENLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFL
SVLPYALIKGIILRKIFTTISFCIVLRMAVTRQFPWAVQTWYDSLGAINKIQDFLQKQEYKTLEYNLTTTEVVMENVTAF
WEEGFGELFEKAKQNNNNRKTSNGDDSLFFSNFSLLGTPVLKDINFKIERGQLLAVAGSTGAGKTSLLMVIMGELEPSEG
KIKHSGRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEEDISKFAEKDNIVLGEGGITLSGGQRARISLAR
AVYKDADLYLLDSPFGYLDVLTEKEIFESCVCKLMANKTRILVTSKMEHLKKADKILILHEGSSYFYGTFSELQNLQPDF
SSKLMGCDSFDQFSAERRNSILTETLHRFSLEGDAPVSWTETKKQSFKQTGEFGEKRKNSILNPINSIRKFSIVQKTPLQ
MNGIEEDSDEPLERRLSLVPDSEQGEAILPRISVISTGPTLQARRRQSVLNLMTHSVNQGQNIHRKTTASTRKVSLAPQA
NLTELDIYSRRLSQETGLEISEEINEEDLKECFFDDMESIPAVTTWNTYLRYITVHKSLIFVLIWCLVIFLAEVAASLVV
LWLLGNTPLQDKGNSTHSRNNSYAVIITSTSSYYVFYIYVGVADTLLAMGFFRGLPLVHTLITVSKILHHKMLHSVLQAP
MSTLNTLKAGGILNRFSKDIAILDDLLPLTIFDFIQLLLIVIGAIAVVAVLQPYIFVATVPVIVAFIMLRAYFLQTSQQL
KQLESEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETPFHKALNLHTANWFLYLSTLRWFQMRIEMIFVIFFIAVTFISIL
TTGEGEGRVGIILTLAMNIMSTLQWAVNSSIDVDSLMRSVSRVFKFIDMPTEGKPTKSTKPYKNGQLSKVMIIENSHVKK
DDIWPSGGQMTVKDLTAKYTEGGNAILENISFSISPGQRVGLLGRTGSGKSTLLSAFLRLLNTEGEIQIDGVSWDSITLQ
QWRKAFGVIPQKVFIFSGTFRKNLDPYEQWSDQEIWKVADEVGLRSVIEQFPGKLDFVLVDGGCVLSHGHKQLMCLARSV
LSKAKILLLDEPSAHLDPVTYQIIRRTLKQAFADCTVILCEHRIEAMLECQQFLVIEENKVRQYDSIQKLLNERSLFRQA
ISPSDRVKLFPHRNSSKCKSKPQIAALKEETEEEVQDTRL*
Variant Samples
Additional References at PubMed
PMID:7517268   PMID:17662673   PMID:22442927   PMID:22658665   PMID:23891399   PMID:23974870   PMID:24225052   PMID:25741868   PMID:25910067   PMID:28492532   PMID:28603918  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000056377 CLINVAR
  RCV001004303 CLINVAR
  RCV001508221 CLINVAR
  RCV001826661 CLINVAR
  RCV003474572 CLINVAR
dbSNP (RS) rs139304906 CLINVAR
MedGen C0010674 CLINVAR
  C2749757 CLINVAR
  C3661900 CLINVAR
NCBI Gene 111674472 CLINVAR
  CFTR CLINVAR
OMIM 211400 CLINVAR
  219700 CLINVAR
  277180 CLINVAR
  602421 CLINVAR
SNOMED CT 190905008 CLINVAR