RGD:126764431 Rat Genome Database

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Variant: RGD:126764431 -  Homo sapiens

RGD ID: 126764431
RS ID: rs766165528
ClinVar ID: CV1014708
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLCN4  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 10,153,194
GRCh38 X 10,185,154
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001256944.2:c.-38-9757G>A
NM_001830.4:c.122G>A
NG_012496.1:g.33210G>A
NC_000023.11:g.10185154G>A
More... 		03/17/2020 intron variant uncertain significance none provided

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

Gene Symbol:CLCN4
Accession:NM_001830
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVNAGAMSGSGNLMDFLDEPFPDVGTYEDFHTIDWLREKSQDTDRHRKITSKSKESIWEFIKSLLDAWSGWVVMLLIGLL
AGTLAGVIDLAVDWMTDLKEGVCLSAFWYSHEQCCWTSNETTFEDRDKCPLWQKWSELLVNQSEGASAYILNYLMYILWA
LLFAFLAVSLVRVFAPYACGSGIPEIKTILSGFIIRGYLGKWTLLIKTVTLVLVVSSGLSLGKEGPLVHVACCCGNFFSS
LFSKYSKNEGKRREVLSAAAAAGVSVAFGAPIGGVLFSLEEVSYYFPLKTLWRSFFAALVAAFTLRSINPFGNSRLVLFY
VEYHTPWYMAELFPFILLGVFGGLWGTLFIRCNIAWCRRRKTTRLGKYPVLEVIVVTAITAIIAYPNPYTRQSTSELISE
LFNDCGALESSQLCDYINDPNMTRPVDDIPDRPAGVGVYTAMWQLALALIFKIVVTIFTFGMKIPSGLFIPSMAVGAIAG
RMVGIGVEQLAYHHHDWIIFRNWCRPGADCVTPGLYAMVGAAACLGGVTRMTVSLVVIMFELTGGLEYIVPLMAAAVTSK
WVADAFGKEGIYEAHIHLNGYPFLDVKDEFTHRTLATDVMRPRRGEPPLSVLTQDSMTVEDVETLIKETDYNGFPVVVSR
DSERLIGFAQRRELILAIKNARQRQEGIVSNSIMYFTEEPPELPANSPHPLKLRRILNLSPFTVTDHTPMETVVDIFRKL
GLRQCLVTRSGRLLGIITKKDVLRHMAQMANQDPESIMFN*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001319643 CLINVAR
dbSNP (RS) rs766165528 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CLCN4 CLINVAR
OMIM 302910 CLINVAR