RGD:155924462 Rat Genome Database

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Variant: RGD:155924462 -  Homo sapiens

RGD ID: 155924462
ClinVar ID: CV2277115
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FGF21  LOC109279247  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 49,261,392
GRCh38 19 48,758,135
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_019113.4:c.545C>T
LRG_810:g.2256G>A
NG_007510.2:g.2256G>A
NG_052552.1:g.3109C>T
More... 		06/09/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:FGF21
Accession:NM_019113
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 182
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSDETGFEHSGLWVSVLAGLLLGACQAHPIPDSSPLLQFGGQVRQRYLYTDDAQQTEAHLEIREDGTVGGAADQSPESL
LQLKALKPGVIQILGVKTSRFLCQRPDGALYGSLHFDPEACSFRELLLEDGYNVYQSEAHGLPLHLPGNKSPHRDPAPRG
PARFLPLPGLPPALPEPPGILVPQPPDVGSSDPLSMVGPSQGRSPSYAS*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004142765 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene FGF21 CLINVAR
  LOC109279247 CLINVAR
OMIM 609436 CLINVAR