RGD:155975578 Rat Genome Database

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Variant: RGD:155975578 -  Homo sapiens

RGD ID: 155975578
ClinVar ID: CV2231384
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMEM123  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 102,272,931
GRCh38 11 102,402,200
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_052932.3:c.164T>C
NC_000011.10:g.102402200A>G
NC_000011.9:g.102272931A>G
NM_052932.2:c.164T>C
More... 		07/09/2021 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:TMEM123
Accession:NM_052932
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 55
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLGARGAWAALLLGTLQVLALLGAAHESAAMAASANIENSGLPHNSSANSTETPQHVPSDHTNETSNSTVKPPTSVASD
SSNTTVTTMKPTAASNTTTPGMVSTNMTSTTLKSTPKTTSVSQNTSQISTSTMTVTHNSSVTSAASSVTITTTMHSEAKK
GSKFDTGSFVGGIVLTLGVLSILYIGCKMYYSRRGIRYRTIDEHDAII*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004096471 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene TMEM123 CLINVAR
OMIM 606356 CLINVAR