RGD:401727457 Rat Genome Database

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Variant: RGD:401727457 -  Homo sapiens

RGD ID: 401727457
ClinVar ID: CV2681034
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ADM  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 10,327,890
GRCh38 11 10,306,343
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001124.3:c.260C>T
NC_000011.10:g.10306343C>T
NC_000011.9:g.10327890C>T
NM_001124.1:c.260C>T
More... 		03/17/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:ADM
Accession:NM_001124
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 87
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLVSVALMYLGSLAFLGADTARLDVASEFRKKWNKWALSRGKRELRMSSSYPTGLADVKAGPAQTLIRPQDMKGASRSP
EDSSPDVARIRVKRYRQSMNNFQGLRSFGCRFGTCTVQKLAHQIYQFTDKDKDNVAPRSKISPQGYGRRRRRSLPEAGPG
RTLVSSKPQAHGAPAPPSGSAPHFL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004296099 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ADM CLINVAR
OMIM 103275 CLINVAR