RGD:155960987 Rat Genome Database

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Variant: RGD:155960987 -  Homo sapiens

RGD ID: 155960987
ClinVar ID: CV2204416
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RLIM  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 73,811,829
GRCh38 X 74,591,994
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_016120.4:c.1321G>C
NM_183353.3:c.1321G>C
NG_013258.1:g.27633G>C
NC_000023.11:g.74591994C>G
More... 		06/04/2021 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RLIM
Accession:NM_016120
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 441
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MENSDSNDKGSGDQSAAQRRSQMDRLDREEAFYQFVNNLSEEDYRLMRDNNLLGTPGESTEEELLRRLQQIKEGPPPQNS
DENRGGDSSDDVSNGDSIIDWLNSVRQTGNTTRSGQRGNQSWRAVSRTNPNSGDFRFSLEINVNRNNGSQNSENENEPSA
RRSSGENVENNSQRQVENPRSESTSARPSRSERNSTEALTEVPPTRGQRRARSRSPDHRRTRARAERSRSPLHPMSEIPR
RSHHSISSQTFEHPLVNETEGSSRTRHHVTLRQQISGPELLSRGLFAASGTRNASQGAGSSDTAASGESTGSGQRPPTIV
LDLQVRRVRPGEYRQRDSIASRTRSRSQTPNNTVTYESERGGFRRTFSRSERAGVRTYVSTIRIPIRRILNTGLSETTSV
AIQTMLRQIMTGFGELSYFMYSDSDSEPTGSVSNRNMERAQSRSGRGGSGGGSSSGSSSSSSSSSSSSSSSSSSSSPSSS
SGGESSETSSDLFEGSNEGSSSSGSSGARREGRHRAPVTFDESGSLPFLSLAQFFLLNEDDDDQPRGLTKEQIDNLAMRS
FGENDALKTCSVCITEYTEGNKLRKLPCSHEYHVHCIDRWLSENSTCPICRRAVLASGNRESVV*

Gene Symbol:RLIM
Accession:NM_183353
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 441
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MENSDSNDKGSGDQSAAQRRSQMDRLDREEAFYQFVNNLSEEDYRLMRDNNLLGTPGESTEEELLRRLQQIKEGPPPQNS
DENRGGDSSDDVSNGDSIIDWLNSVRQTGNTTRSGQRGNQSWRAVSRTNPNSGDFRFSLEINVNRNNGSQNSENENEPSA
RRSSGENVENNSQRQVENPRSESTSARPSRSERNSTEALTEVPPTRGQRRARSRSPDHRRTRARAERSRSPLHPMSEIPR
RSHHSISSQTFEHPLVNETEGSSRTRHHVTLRQQISGPELLSRGLFAASGTRNASQGAGSSDTAASGESTGSGQRPPTIV
LDLQVRRVRPGEYRQRDSIASRTRSRSQTPNNTVTYESERGGFRRTFSRSERAGVRTYVSTIRIPIRRILNTGLSETTSV
AIQTMLRQIMTGFGELSYFMYSDSDSEPTGSVSNRNMERAQSRSGRGGSGGGSSSGSSSSSSSSSSSSSSSSSSSSPSSS
SGGESSETSSDLFEGSNEGSSSSGSSGARREGRHRAPVTFDESGSLPFLSLAQFFLLNEDDDDQPRGLTKEQIDNLAMRS
FGENDALKTCSVCITEYTEGNKLRKLPCSHEYHVHCIDRWLSENSTCPICRRAVLASGNRESVV*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002686612 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene RLIM CLINVAR
OMIM 300379 CLINVAR