RGD:405698673 Rat Genome Database

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Variant: RGD:405698673 -  Homo sapiens

RGD ID: 405698673
ClinVar ID: CV3245926
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CRABP1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 78,640,281
GRCh38 15 78,347,939
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004378.3:c.376G>A
NC_000015.10:g.78347939G>A
NC_000015.9:g.78640281G>A
NM_004378.2:c.376G>A
More... 		12/06/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CRABP1
Accession:NM_004378
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 126
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPNFAGTWKMRSSENFDELLKALGVNAMLRKVAVAAASKPHVEIRQDGDQFYIKTSTTVRTTEINFKVGEGFEEETVDGR
KCRSLATWENENKIHCTQTLLEGDGPKTYWTRELANDELILTFGANDVVCTRIYVRE*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004374850 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CRABP1 CLINVAR
OMIM 180230 CLINVAR