RGD:8614379 Rat Genome Database

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Variant: RGD:8614379 -  Homo sapiens

RGD ID: 8614379
RS ID: rs150157202
ClinVar ID: CV68133
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CFTR  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 117,232,481
GRCh38 7 117,592,427
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.117592427G>A
NC_000007.13:g.117232481G>A
NP_000483.3:p.Val754Met
LRG_663p1:p.Val754Met
More... 		12/31/2019 missense|missense variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided all ages|neonatal/infancy 1-5 / 10 000|1-9 / 100 000 AllHighlyPenetrant; Hereditary chronic pancreatitis; 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: V to M (nonsynonymous)
Amino Acid Position: 754
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRSPLEKASVVSKLFFSWTRPILRKGYRQRLELSDIYQIPSVDSADNLSEKLEREWDRELASKKNPKLINALRRCFFWR
FMFYGIFLYLGEVTKAVQPLLLGRIIASYDPDNKEERSIAIYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSLI
YKKTLKLSSRVLDKISIGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVALLMGLIWELLQASAFCGLGFLIVLALFQAGL
GRMMMKYRDQRAGKISERLVITSEMIENIQSVKAYCWEEAMEKMIENLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFL
SVLPYALIKGIILRKIFTTISFCIVLRMAVTRQFPWAVQTWYDSLGAINKIQDFLQKQEYKTLEYNLTTTEVVMENVTAF
WEEGFGELFEKAKQNNNNRKTSNGDDSLFFSNFSLLGTPVLKDINFKIERGQLLAVAGSTGAGKTSLLMVIMGELEPSEG
KIKHSGRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEEDISKFAEKDNIVLGEGGITLSGGQRARISLAR
AVYKDADLYLLDSPFGYLDVLTEKEIFESCVCKLMANKTRILVTSKMEHLKKADKILILHEGSSYFYGTFSELQNLQPDF
SSKLMGCDSFDQFSAERRNSILTETLHRFSLEGDAPVSWTETKKQSFKQTGEFGEKRKNSILNPINSIRKFSIVQKTPLQ
MNGIEEDSDEPLERRLSLVPDSEQGEAILPRISMISTGPTLQARRRQSVLNLMTHSVNQGQNIHRKTTASTRKVSLAPQA
NLTELDIYSRRLSQETGLEISEEINEEDLKECFFDDMESIPAVTTWNTYLRYITVHKSLIFVLIWCLVIFLAEVAASLVV
LWLLGNTPLQDKGNSTHSRNNSYAVIITSTSSYYVFYIYVGVADTLLAMGFFRGLPLVHTLITVSKILHHKMLHSVLQAP
MSTLNTLKAGGILNRFSKDIAILDDLLPLTIFDFIQLLLIVIGAIAVVAVLQPYIFVATVPVIVAFIMLRAYFLQTSQQL
KQLESEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHKALNLHTANWFLYLSTLRWFQMRIEMIFVIFFIAVTFISIL
TTGEGEGRVGIILTLAMNIMSTLQWAVNSSIDVDSLMRSVSRVFKFIDMPTEGKPTKSTKPYKNGQLSKVMIIENSHVKK
DDIWPSGGQMTVKDLTAKYTEGGNAILENISFSISPGQRVGLLGRTGSGKSTLLSAFLRLLNTEGEIQIDGVSWDSITLQ
QWRKAFGVIPQKVFIFSGTFRKNLDPYEQWSDQEIWKVADEVGLRSVIEQFPGKLDFVLVDGGCVLSHGHKQLMCLARSV
LSKAKILLLDEPSAHLDPVTYQIIRRTLKQAFADCTVILCEHRIEAMLECQQFLVIEENKVRQYDSIQKLLNERSLFRQA
ISPSDRVKLFPHRNSSKCKSKPQIAALKEETEEEVQDTRL*
Variant Samples
Additional References at PubMed
PMID:9921909   PMID:10077727   PMID:10376575   PMID:10798368   PMID:11001817   PMID:15151509   PMID:15520400   PMID:15987793   PMID:16786510   PMID:17003641   PMID:17413420   PMID:17572159  
PMID:20021716   PMID:20920895   PMID:21416780   PMID:23276700   PMID:23670503   PMID:23974870   PMID:25674778   PMID:25741868   PMID:25797027   PMID:25824995   PMID:25910067   PMID:26467025  
PMID:26888287   PMID:28492532   PMID:28603918   PMID:33572515   PMID:34996830   PMID:35527187  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000046566 CLINVAR
  RCV000242825 CLINVAR
  RCV000589543 CLINVAR
  RCV001163690 CLINVAR
  RCV002255272 CLINVAR
dbSNP (RS) rs150157202 CLINVAR
MedGen C0010674 CLINVAR
  C0238339 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene CFTR CLINVAR
OMIM 167800 CLINVAR
  219700 CLINVAR
  602421 CLINVAR
SNOMED CT 190905008 CLINVAR
  68072000 CLINVAR