RGD:156259352 Rat Genome Database

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Variant: RGD:156259352 -  Homo sapiens

RGD ID: 156259352
ClinVar ID: CV2395460
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SIT1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 35,649,969
GRCh38 9 35,649,972
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_014450.3:c.467A>G
NC_000009.12:g.35649972T>C
NC_000009.11:g.35649969T>C
NM_014450.2:c.467A>G
More... 		04/07/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:SIT1
Accession:NM_014450
Location:EXON
Amino Acid Prediction: E to G (nonsynonymous)
Amino Acid Position: 156
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNQADPRLRAVCLWTLTSAAMSRGDNCTDLLALGIPSITQAWGLWVLLGAVTLLFLISLAAHLSQWTRGRSRSHPGQGRS
GESVEEVPLYGNLHYLQTGRLSQDPEPDQQDPTLGGPARAAEEVMCYTSLQLRPPQGRIPGPGTPVKYSEVVLDSGPKSQ
ASGPEPELYASVCAQTRRARASFPDQAYANSQPAAS*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004241326 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene SIT1 CLINVAR
OMIM 604964 CLINVAR