RGD:11531249 Rat Genome Database

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Variant: RGD:11531249 -  Homo sapiens

RGD ID: 11531249
RS ID: rs1569226551
ClinVar ID: CV247526
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLCN4  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 10,155,642
GRCh38 X 10,187,602
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_012496.1:g.35658G>A
NC_000023.11:g.10187602G>A
NC_000023.10:g.10155642G>A
NP_001821.2:p.Gly78Ser
More... 		10/11/2022 intron variant pathogenic|uncertain significance childhood CLCN4-related X-linked intellectual disability syndrome; MENTAL RETARDATION, X-LINKED 15; MRX49; none provided; RAYNAUD-CLAES SYNDROME
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CLCN4
Accession:NM_001256944
Location:5UTRS;INTRON

Gene Symbol:CLCN4
Accession:NM_001830
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 78
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVNAGAMSGSGNLMDFLDEPFPDVGTYEDFHTIDWLREKSRDTDRHRKITSKSKESIWEFIKSLLDAWSGWVVMLLISLL
AGTLAGVIDLAVDWMTDLKEGVCLSAFWYSHEQCCWTSNETTFEDRDKCPLWQKWSELLVNQSEGASAYILNYLMYILWA
LLFAFLAVSLVRVFAPYACGSGIPEIKTILSGFIIRGYLGKWTLLIKTVTLVLVVSSGLSLGKEGPLVHVACCCGNFFSS
LFSKYSKNEGKRREVLSAAAAAGVSVAFGAPIGGVLFSLEEVSYYFPLKTLWRSFFAALVAAFTLRSINPFGNSRLVLFY
VEYHTPWYMAELFPFILLGVFGGLWGTLFIRCNIAWCRRRKTTRLGKYPVLEVIVVTAITAIIAYPNPYTRQSTSELISE
LFNDCGALESSQLCDYINDPNMTRPVDDIPDRPAGVGVYTAMWQLALALIFKIVVTIFTFGMKIPSGLFIPSMAVGAIAG
RMVGIGVEQLAYHHHDWIIFRNWCRPGADCVTPGLYAMVGAAACLGGVTRMTVSLVVIMFELTGGLEYIVPLMAAAVTSK
WVADAFGKEGIYEAHIHLNGYPFLDVKDEFTHRTLATDVMRPRRGEPPLSVLTQDSMTVEDVETLIKETDYNGFPVVVSR
DSERLIGFAQRRELILAIKNARQRQEGIVSNSIMYFTEEPPELPANSPHPLKLRRILNLSPFTVTDHTPMETVVDIFRKL
GLRQCLVTRSGRLLGIITKKDVLRHMAQMANQDPESIMFN*
Variant Samples
Additional References at PubMed
PMID:25644381   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000239527 CLINVAR
  RCV002518545 CLINVAR
dbSNP (RS) rs1569226551 CLINVAR
MedGen C0796221 CLINVAR
  C3661900 CLINVAR
NCBI Gene CLCN4 CLINVAR
OMIM 300114 CLINVAR
  302910 CLINVAR
OMIM Allele 302910.0004 CLINVAR