RGD:8614176 Rat Genome Database

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Variant: RGD:8614176 -  Homo sapiens

RGD ID: 8614176
RS ID: rs1800089
ClinVar ID: CV67914
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CFTR  CFTR-AS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 117,199,524
GRCh38 7 117,559,470
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.117559470C>T
NC_000007.13:g.117199524C>T
NP_000483.3:p.Leu467Phe
NG_016465.4:g.98687C>T
More... 		03/16/2021 missense|missense variant likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided all ages|neonatal/infancy 1-5 / 10 000|1-9 / 100 000 AllHighlyPenetrant; 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 F (nonsynonymous)
Amino Acid Position: 467
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRSPLEKASVVSKLFFSWTRPILRKGYRQRLELSDIYQIPSVDSADNLSEKLEREWDRELASKKNPKLINALRRCFFWR
FMFYGIFLYLGEVTKAVQPLLLGRIIASYDPDNKEERSIAIYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSLI
YKKTLKLSSRVLDKISIGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVALLMGLIWELLQASAFCGLGFLIVLALFQAGL
GRMMMKYRDQRAGKISERLVITSEMIENIQSVKAYCWEEAMEKMIENLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFL
SVLPYALIKGIILRKIFTTISFCIVLRMAVTRQFPWAVQTWYDSLGAINKIQDFLQKQEYKTLEYNLTTTEVVMENVTAF
WEEGFGELFEKAKQNNNNRKTSNGDDSLFFSNFSLLGTPVLKDINFKIERGQLLAVAGSTGAGKTSFLMVIMGELEPSEG
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:10923036   PMID:16436643   PMID:18716917   PMID:19202204   PMID:20510657   PMID:20538955   PMID:21783433   PMID:22020151   PMID:22892530   PMID:22896710   PMID:23891399   PMID:23974870  
PMID:24106596   PMID:25741868   PMID:26436105   PMID:26437683   PMID:26467025   PMID:26708955   PMID:27917292   PMID:28492532   PMID:28603918   PMID:29271547   PMID:29504914   PMID:32026723  
PMID:32150665   PMID:32292813   PMID:35328596   PMID:36142302   PMID:36286063  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000577709 CLINVAR
  RCV000588804 CLINVAR
  RCV001824591 CLINVAR
  RCV003884342 CLINVAR
dbSNP (RS) rs1800089 CLINVAR
MedGen C0010674 CLINVAR
  C2749757 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene CFTR CLINVAR
  CFTR-AS1 CLINVAR
OMIM 211400 CLINVAR
  219700 CLINVAR
  602421 CLINVAR
SNOMED CT 190905008 CLINVAR