RGD:329350346 Rat Genome Database

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Variant: RGD:329350346 -  Homo sapiens

RGD ID: 329350346
ClinVar ID: CV2477331
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RLIM  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 73,811,766
GRCh38 X 74,591,931
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_899196.1:p.Ser462Gly
NG_013258.1:g.27696A>G
NC_000023.11:g.74591931T>C
NC_000023.10:g.73811766T>C
More... 		10/11/2022 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:RLIM
Accession:NM_016120
Location:EXON
Amino Acid Prediction: S to G (nonsynonymous)
Amino Acid Position: 462
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MENSDSNDKGSGDQSAAQRRSQMDRLDREEAFYQFVNNLSEEDYRLMRDNNLLGTPGESTEEELLRRLQQIKEGPPPQNS
DENRGGDSSDDVSNGDSIIDWLNSVRQTGNTTRSGQRGNQSWRAVSRTNPNSGDFRFSLEINVNRNNGSQNSENENEPSA
RRSSGENVENNSQRQVENPRSESTSARPSRSERNSTEALTEVPPTRGQRRARSRSPDHRRTRARAERSRSPLHPMSEIPR
RSHHSISSQTFEHPLVNETEGSSRTRHHVTLRQQISGPELLSRGLFAASGTRNASQGAGSSDTAASGESTGSGQRPPTIV
LDLQVRRVRPGEYRQRDSIASRTRSRSQTPNNTVTYESERGGFRRTFSRSERAGVRTYVSTIRIPIRRILNTGLSETTSV
AIQTMLRQIMTGFGELSYFMYSDSDSEPTGSVSNRNMERAESRSGRGGSGGGSSSGSSSSSGSSSSSSSSSSSSSSPSSS
SGGESSETSSDLFEGSNEGSSSSGSSGARREGRHRAPVTFDESGSLPFLSLAQFFLLNEDDDDQPRGLTKEQIDNLAMRS
FGENDALKTCSVCITEYTEGNKLRKLPCSHEYHVHCIDRWLSENSTCPICRRAVLASGNRESVV*

Gene Symbol:RLIM
Accession:NM_183353
Location:EXON
Amino Acid Prediction: S to G (nonsynonymous)
Amino Acid Position: 462
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MENSDSNDKGSGDQSAAQRRSQMDRLDREEAFYQFVNNLSEEDYRLMRDNNLLGTPGESTEEELLRRLQQIKEGPPPQNS
DENRGGDSSDDVSNGDSIIDWLNSVRQTGNTTRSGQRGNQSWRAVSRTNPNSGDFRFSLEINVNRNNGSQNSENENEPSA
RRSSGENVENNSQRQVENPRSESTSARPSRSERNSTEALTEVPPTRGQRRARSRSPDHRRTRARAERSRSPLHPMSEIPR
RSHHSISSQTFEHPLVNETEGSSRTRHHVTLRQQISGPELLSRGLFAASGTRNASQGAGSSDTAASGESTGSGQRPPTIV
LDLQVRRVRPGEYRQRDSIASRTRSRSQTPNNTVTYESERGGFRRTFSRSERAGVRTYVSTIRIPIRRILNTGLSETTSV
AIQTMLRQIMTGFGELSYFMYSDSDSEPTGSVSNRNMERAESRSGRGGSGGGSSSGSSSSSGSSSSSSSSSSSSSSPSSS
SGGESSETSSDLFEGSNEGSSSSGSSGARREGRHRAPVTFDESGSLPFLSLAQFFLLNEDDDDQPRGLTKEQIDNLAMRS
FGENDALKTCSVCITEYTEGNKLRKLPCSHEYHVHCIDRWLSENSTCPICRRAVLASGNRESVV*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003221656 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene RLIM CLINVAR
OMIM 300379 CLINVAR