RGD:156259096 Rat Genome Database

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Variant: RGD:156259096 -  Homo sapiens

RGD ID: 156259096
ClinVar ID: CV2366212
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IGFBP7  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 4 57,907,088
GRCh38 4 57,040,922
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001253835.2:c.487G>C
NM_001553.3:c.487G>C
NG_031877.1:g.74464G>C
NC_000004.12:g.57040922C>G
More... 		05/26/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IGFBP7
Accession:NM_001553
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 163
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MERPSLRALLLGAAGLLLLLLPLSSSSSSDTCGPCEPASCPPLPPLGCLLGETRDACGCCPMCARGEGEPCGGGGAGRGY
CAPGMECVKSRKRRKGKAGAAAGGPGVSGVCVCKSRYPVCGSDGTTYPSGCQLRAASQRAESRGEKAITQVSKGTCEQGP
SILTPPKDIWNVTGAQVYLSCEVIGIPTPVLIWNKVKRGHYGVQRTELLPGDRDNLAIQTRGGPEKHEVTGWVLVSPLSK
EDAGEYECHASNSQGQASASAKITVVDALHEIPVKKGEGAEL*

Gene Symbol:IGFBP7
Accession:NM_001253835
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 163
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MERPSLRALLLGAAGLLLLLLPLSSSSSSDTCGPCEPASCPPLPPLGCLLGETRDACGCCPMCARGEGEPCGGGGAGRGY
CAPGMECVKSRKRRKGKAGAAAGGPGVSGVCVCKSRYPVCGSDGTTYPSGCQLRAASQRAESRGEKAITQVSKGTCEQGP
SILTPPKDIWNVTGAQVYLSCEVIGIPTPVLIWNKVKRGHYGVQRTELLPGDRDNLAIQTRGGPEKHEVTGWVLVSPLSK
EDAGEYECHASNSQGQASASAKITVVDALHEIPVKKGTQ*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003008822 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene IGFBP7 CLINVAR
OMIM 602867 CLINVAR