RGD:156071469 Rat Genome Database

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Variant: RGD:156071469 -  Homo sapiens

RGD ID: 156071469
ClinVar ID: CV2251416
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TEX12  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 112,041,217
GRCh38 11 112,170,494
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_031275.4:c.139T>C
NC_000011.10:g.112170494T>C
NC_000011.9:g.112041217T>C
NP_112565.1:p.Phe47Leu
 11/09/2021 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:TEX12
Accession:NM_031275
Location:EXON
Amino Acid Prediction: F to L (nonsynonymous)
Amino Acid Position: 47
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMANHLVKPDNRNCKRPRELESPVPDSPQLSSLGKSDSSFSEISGLLYKDEALEKDLNDVSKEINLMLSTYAKLLSERAA
VDASYIDEIDELFKEANAIENFLIQKREFLRQRFTVIANTLHR*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004117398 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene TEX12 CLINVAR
OMIM 605791 CLINVAR