RGD:8602771 Rat Genome Database

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Variant: RGD:8602771 -  Homo sapiens

RGD ID: 8602771
RS ID: rs193922525
ClinVar ID: CV44545
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CFTR  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 117,304,824
GRCh38 7 117,664,770
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_000007.13:g.117304824G>A
NP_000483.3:p.Gly1349Asp
NG_016465.4:g.203987G>A
P13569:p.Gly1349Asp
More...
03/23/2018 missense|missense variant pathogenic|drug response all ages|neonatal/infancy 1-5 / 10 000|1-9 / 100 000 Congenital bilateral aplasia of vas deferens from CFTR mutation; Cystic fibrosis; Cystic Fibrosis-Like Syndrome; Hereditary chronic pancreatitis; Hereditary pancreatitis; Mucoviscidosis
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CFTR
Accession:NM_000492
Location:EXON
Amino Acid Prediction: G to D (nonsynonymous)
Amino Acid Position: 1349
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRSPLEKASVVSKLFFSWTRPILRKGYRQRLELSDIYQIPSVDSADNLSEKLEREWDRELASKKNPKLINALRRCFFWR
FMFYGIFLYLGEVTKAVQPLLLGRIIASYDPDNKEERSIAIYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSLI
YKKTLKLSSRVLDKISIGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVALLMGLIWELLQASAFCGLGFLIVLALFQAGL
GRMMMKYRDQRAGKISERLVITSEMIENIQSVKAYCWEEAMEKMIENLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFL
SVLPYALIKGIILRKIFTTISFCIVLRMAVTRQFPWAVQTWYDSLGAINKIQDFLQKQEYKTLEYNLTTTEVVMENVTAF
WEEGFGELFEKAKQNNNNRKTSNGDDSLFFSNFSLLGTPVLKDINFKIERGQLLAVAGSTGAGKTSLLMVIMGELEPSEG
KIKHSGRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEEDISKFAEKDNIVLGEGGITLSGGQRARISLAR
AVYKDADLYLLDSPFGYLDVLTEKEIFESCVCKLMANKTRILVTSKMEHLKKADKILILHEGSSYFYGTFSELQNLQPDF
SSKLMGCDSFDQFSAERRNSILTETLHRFSLEGDAPVSWTETKKQSFKQTGEFGEKRKNSILNPINSIRKFSIVQKTPLQ
MNGIEEDSDEPLERRLSLVPDSEQGEAILPRISVISTGPTLQARRRQSVLNLMTHSVNQGQNIHRKTTASTRKVSLAPQA
NLTELDIYSRRLSQETGLEISEEINEEDLKECFFDDMESIPAVTTWNTYLRYITVHKSLIFVLIWCLVIFLAEVAASLVV
LWLLGNTPLQDKGNSTHSRNNSYAVIITSTSSYYVFYIYVGVADTLLAMGFFRGLPLVHTLITVSKILHHKMLHSVLQAP
MSTLNTLKAGGILNRFSKDIAILDDLLPLTIFDFIQLLLIVIGAIAVVAVLQPYIFVATVPVIVAFIMLRAYFLQTSQQL
KQLESEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHKALNLHTANWFLYLSTLRWFQMRIEMIFVIFFIAVTFISIL
TTGEGEGRVGIILTLAMNIMSTLQWAVNSSIDVDSLMRSVSRVFKFIDMPTEGKPTKSTKPYKNGQLSKVMIIENSHVKK
DDIWPSGGQMTVKDLTAKYTEGGNAILENISFSISPGQRVGLLGRTGSGKSTLLSAFLRLLNTEGEIQIDGVSWDSITLQ
QWRKAFGVIPQKVFIFSGTFRKNLDPYEQWSDQEIWKVADEVGLRSVIEQFPGKLDFVLVDGGCVLSHDHKQLMCLARSV
LSKAKILLLDEPSAHLDPVTYQIIRRTLKQAFADCTVILCEHRIEAMLECQQFLVIEENKVRQYDSIQKLLNERSLFRQA
ISPSDRVKLFPHRNSSKCKSKPQIAALKEETEEEVQDTRL*

Variant Samples
Additional References at PubMed
PMID:1712898   PMID:7518829   PMID:7544319   PMID:8741733   PMID:10200050   PMID:10762539   PMID:11242048   PMID:15638824   PMID:17353351   PMID:21931512   PMID:22293084   PMID:22992668  
PMID:23620589   PMID:23974870   PMID:25266159   PMID:25489051   PMID:25741868   PMID:26911355   PMID:28492532   PMID:28603918   PMID:31245908  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000029536 CLINVAR
  RCV000211255 CLINVAR
  RCV001826515 CLINVAR
  RCV002247398 CLINVAR
  RCV002477013 CLINVAR
  RCV003473145 CLINVAR
dbSNP (RS) rs193922525 CLINVAR
MedGen C0010674 CLINVAR
  C0238339 CLINVAR
  C2749757 CLINVAR
  CN322735 CLINVAR
NCBI Gene CFTR CLINVAR
OMIM 167800 CLINVAR
  211400 CLINVAR
  219700 CLINVAR
  277180 CLINVAR
  602421 CLINVAR
SNOMED CT 190905008 CLINVAR
  68072000 CLINVAR