RGD:156349218 Rat Genome Database

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Variant: RGD:156349218 -  Homo sapiens

RGD ID: 156349218
ClinVar ID: CV2309322
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FIBP  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 65,653,019
GRCh38 11 65,885,548
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004214.5:c.628T>C
NM_198897.2:c.628T>C
NG_047103.1:g.7992T>C
NC_000011.10:g.65885548A>G
More... 		11/10/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FIBP
Accession:NM_198897
Location:EXON
Amino Acid Prediction: W to R (nonsynonymous)
Amino Acid Position: 210
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSELDIFVGNTTLIDEDVYRLWLDGYSVTDAVALRVRSGILEQTGATAAVLQSDTMDHYRTFHMLERLLHAPPKLLHQL
IFQIPPSRQALLIERYYAFDEAFVREVLGKKLSKGTKKDLDDISTKTGITLKSCRRQFDNFKRVFKVVEEMRGSLVDNIQ
QHFLLSDRLARDYAAIVFFANNRFETGKKKLQYLSFGDFAFCAELMIQNRTLGAVGEAPTDPDSQMDDMDMDLDKEFLQD
LKELKVLVADKDLLDLHKSLVCTALRGKLGVFSEMEANFKNLSRGLVNVAAKLTHNKDVRDLFVDLVEKFVEPCRSDHWP
LSDVRFFLNQYSASVHSLDGFRHQALWDRYMGTLRGCLLRLYHD*

Gene Symbol:FIBP
Accession:NM_004214
Location:EXON
Amino Acid Prediction: W to R (nonsynonymous)
Amino Acid Position: 210
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSELDIFVGNTTLIDEDVYRLWLDGYSVTDAVALRVRSGILEQTGATAAVLQSDTMDHYRTFHMLERLLHAPPKLLHQL
IFQIPPSRQALLIERYYAFDEAFVREVLGKKLSKGTKKDLDDISTKTGITLKSCRRQFDNFKRVFKVVEEMRGSLVDNIQ
QHFLLSDRLARDYAAIVFFANNRFETGKKKLQYLSFGDFAFCAELMIQNRTLGAVDSQMDDMDMDLDKEFLQDLKELKVL
VADKDLLDLHKSLVCTALRGKLGVFSEMEANFKNLSRGLVNVAAKLTHNKDVRDLFVDLVEKFVEPCRSDHWPLSDVRFF
LNQYSASVHSLDGFRHQALWDRYMGTLRGCLLRLYHD*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002939600 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene FIBP CLINVAR
OMIM 608296 CLINVAR