RGD:13472646 Rat Genome Database

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Variant: RGD:13472646 -  Homo sapiens

RGD ID: 13472646
RS ID: rs1166889219
ClinVar ID: CV444220
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNK9  LOC124188239  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 140,715,211
GRCh38 8 139,702,968
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.5089C>G
NM_001282534.1:c.25C>G
NP_001269463.1:p.Leu9Val
LRG_1042p1:p.Leu9Val
More... 		05/28/2019 missense variant likely benign|uncertain significance Birk Barel mental retardation dysmorphism syndrome; Mental retardation with hypotonia and facial dysmorphism; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNK9
Accession:NM_001282534
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 9
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKRQNVRTVSLIVCTFTYLLVGAAVFDALESDHEMREEEKLKAEEIRIKGKYNISSEDYRQLELVILQSEPHRAGVQWKF
AGSFYFAITVITTIGYGHAAPGTDAGKAFCMFYAVLGIPLTLVMFQSLGERMNTFVRYLLKRIKKCCGMRNTDVSMENMV
TVGFFSCMGTLCIGAAAFSQCEEWSFFHAYYYCFITLTTIGFGDYVALQTKGALQKKPLYVAFSFMYILVGLTVIGAFLN
LVVLRFLTMNSEDERRDAEERASLAGNRNSMVIHIPEEPRPSRPRYKADVPDLQSVCSCTCYRSQDYGGRSVAPQNSFSA
KLAPHYFHSISYKIEEISPSTLKNSLFPSPISSISPGLHSFTDHQRLMKRRKSV*

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000988120 CLINVAR
  RCV001722449 CLINVAR
dbSNP (RS) rs1166889219 CLINVAR
MedGen C2676770 CLINVAR
  C3661900 CLINVAR
NCBI Gene KCNK9 CLINVAR
  LOC124188239 CLINVAR
OMIM 605874 CLINVAR
  612292 CLINVAR