RGD:155266853 Rat Genome Database

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Pathways
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Variant: RGD:155266853 -  Homo sapiens

RGD ID: 155266853
ClinVar ID: CV1696397
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FGG  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 155,527,899
GRCh38 4 154,606,747
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_585t1:c.1087A>G
LRG_585t2:c.1087A>G
NM_000509.6:c.1087A>G
NM_021870.3:c.1087A>G
More... 		03/03/2022 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:FGG
Accession:NM_000509
Location:EXON
Amino Acid Prediction: N to D (nonsynonymous)
Amino Acid Position: 363
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSWSLHPRNLILYFYALLFLSSTCVAYVATRDNCCILDERFGSYCPTTCGIADFLSTYQTKVDKDLQSLEDILHQVENKT
SEVKQLIKAIQLTYNPDESSKPNMIDAATLKSRKMLEEIMKYEASILTHDSSIRYLQEIYNSNNQKIVNLKEKVAQLEAQ
CQEPCKDTVQIHDITGKDCQDIANKGAKQSGLYFIKPLKANQQFLVYCEIDGSGNGWTVFQKRLDGSVDFKKNWIQYKEG
FGHLSPTGTTEFWLGNEKIHLISTQSAIPYALRVELEDWNGRTSTADYAMFKVGPEADKYRLTYAYFAGGDAGDAFDGFD
FGDDPSDKFFTSHNGMQFSTWDNDNDKFEGNCAEQDGSGWWMDKCHAGHLNGVYYQGGTYSKASTPNGYDNGIIWATWKT
RWYSMKKTTMKIIPFNRLTIGEGQQHHLGGAKQAGDV*

Gene Symbol:FGG
Accession:NM_021870
Location:EXON
Amino Acid Prediction: N to D (nonsynonymous)
Amino Acid Position: 363
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSWSLHPRNLILYFYALLFLSSTCVAYVATRDNCCILDERFGSYCPTTCGIADFLSTYQTKVDKDLQSLEDILHQVENKT
SEVKQLIKAIQLTYNPDESSKPNMIDAATLKSRKMLEEIMKYEASILTHDSSIRYLQEIYNSNNQKIVNLKEKVAQLEAQ
CQEPCKDTVQIHDITGKDCQDIANKGAKQSGLYFIKPLKANQQFLVYCEIDGSGNGWTVFQKRLDGSVDFKKNWIQYKEG
FGHLSPTGTTEFWLGNEKIHLISTQSAIPYALRVELEDWNGRTSTADYAMFKVGPEADKYRLTYAYFAGGDAGDAFDGFD
FGDDPSDKFFTSHNGMQFSTWDNDNDKFEGNCAEQDGSGWWMDKCHAGHLNGVYYQGGTYSKASTPNGYDNGIIWATWKT
RWYSMKKTTMKIIPFNRLTIGEGQQHHLGGAKQVRPEHPAETEYDSLYPEDDL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002281255 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene FGG CLINVAR
OMIM 134850 CLINVAR