RGD:156045538 Rat Genome Database

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Variant: RGD:156045538 -  Homo sapiens

RGD ID: 156045538
ClinVar ID: CV2397256
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FGF19  LOC124500681  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 69,514,262
GRCh38 11 69,699,494
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005117.3:c.419G>A
NG_079338.1:g.314C>T
NC_000011.10:g.69699494C>T
NC_000011.9:g.69514262C>T
More... 		01/26/2022 missense variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:FGF19
Accession:NM_005117
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 140
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSGCVVVHVWILAGLWLAVAGRPLAFSDAGPHVHYGWGDPIRLRHLYTSGPHGLSSCFLRIRADGVVDCARGQSAHSLL
EIKAVALRTVAIKGVHSVRYLCMGADGKMQGLLQYSEEDCAFEEEIRPDGYNVYRSEKHHLPVSLSSAKQRQLYKNRGFL
PLSHFLPMLPMVPEEPEDLRGHLESDMFSSPLETDSMDPFGLVTGLEAVRSPSFEK*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004238790 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene FGF19 CLINVAR
  LOC124500681 CLINVAR
OMIM 603891 CLINVAR