RGD:126741804 Rat Genome Database

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Variant: RGD:126741804 -  Homo sapiens

RGD ID: 126741804
RS ID: rs1814686433
ClinVar ID: CV1020444
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNK9  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 140,631,159
GRCh38 8 139,618,916
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012842.3:g.89141T>C
LRG_1042p1:p.Met156Thr
NP_001269463.1:p.Met156Thr
NC_000008.11:g.139618916A>G
More... 		10/05/2018 missense variant uncertain significance Birk Barel mental retardation dysmorphism syndrome; Mental retardation with hypotonia and facial dysmorphism
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNK9
Accession:NM_001282534
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 156
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKRQNVRTLSLIVCTFTYLLVGAAVFDALESDHEMREEEKLKAEEIRIKGKYNISSEDYRQLELVILQSEPHRAGVQWKF
AGSFYFAITVITTIGYGHAAPGTDAGKAFCMFYAVLGIPLTLVMFQSLGERMNTFVRYLLKRIKKCCGMRNTDVSTENMV
TVGFFSCMGTLCIGAAAFSQCEEWSFFHAYYYCFITLTTIGFGDYVALQTKGALQKKPLYVAFSFMYILVGLTVIGAFLN
LVVLRFLTMNSEDERRDAEERASLAGNRNSMVIHIPEEPRPSRPRYKADVPDLQSVCSCTCYRSQDYGGRSVAPQNSFSA
KLAPHYFHSISYKIEEISPSTLKNSLFPSPISSISPGLHSFTDHQRLMKRRKSV*

Gene Symbol:KCNK9
Accession:NR_104210
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001336347 CLINVAR
dbSNP (RS) rs1814686433 CLINVAR
MedGen C2676770 CLINVAR
NCBI Gene KCNK9 CLINVAR
OMIM 605874 CLINVAR
  612292 CLINVAR