RGD:156170823 Rat Genome Database

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Variant: RGD:156170823 -  Homo sapiens

RGD ID: 156170823
ClinVar ID: CV2400614
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FIBP  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 65,651,464
GRCh38 11 65,883,993
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000011.9:g.65651464A>C
NM_198897.1:c.1076T>G
NP_004205.2:p.Leu352Arg
NP_942600.1:p.Leu359Arg
More... 		12/14/2021 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FIBP
Accession:NM_004214
Location:EXON
Amino Acid Prediction: L to R (nonsynonymous)
Amino Acid Position: 352
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSELDIFVGNTTLIDEDVYRLWLDGYSVTDAVALRVRSGILEQTGATAAVLQSDTMDHYRTFHMLERLLHAPPKLLHQL
IFQIPPSRQALLIERYYAFDEAFVREVLGKKLSKGTKKDLDDISTKTGITLKSCRRQFDNFKRVFKVVEEMRGSLVDNIQ
QHFLLSDRLARDYAAIVFFANNRFETGKKKLQYLSFGDFAFCAELMIQNWTLGAVDSQMDDMDMDLDKEFLQDLKELKVL
VADKDLLDLHKSLVCTALRGKLGVFSEMEANFKNLSRGLVNVAAKLTHNKDVRDLFVDLVEKFVEPCRSDHWPLSDVRFF
LNQYSASVHSLDGFRHQALWDRYMGTLRGCLRRLYHD*

Gene Symbol:FIBP
Accession:NM_198897
Location:EXON
Amino Acid Prediction: L to R (nonsynonymous)
Amino Acid Position: 359
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSELDIFVGNTTLIDEDVYRLWLDGYSVTDAVALRVRSGILEQTGATAAVLQSDTMDHYRTFHMLERLLHAPPKLLHQL
IFQIPPSRQALLIERYYAFDEAFVREVLGKKLSKGTKKDLDDISTKTGITLKSCRRQFDNFKRVFKVVEEMRGSLVDNIQ
QHFLLSDRLARDYAAIVFFANNRFETGKKKLQYLSFGDFAFCAELMIQNWTLGAVGEAPTDPDSQMDDMDMDLDKEFLQD
LKELKVLVADKDLLDLHKSLVCTALRGKLGVFSEMEANFKNLSRGLVNVAAKLTHNKDVRDLFVDLVEKFVEPCRSDHWP
LSDVRFFLNQYSASVHSLDGFRHQALWDRYMGTLRGCLRRLYHD*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002765277 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene FIBP CLINVAR
OMIM 608296 CLINVAR