RGD:156090967 Rat Genome Database

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Variant: RGD:156090967 -  Homo sapiens

RGD ID: 156090967
ClinVar ID: CV2302618
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ENDOD1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 94,823,344
GRCh38 11 95,090,180
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_015036.3:c.253C>T
NC_000011.10:g.95090180C>T
NC_000011.9:g.94823344C>T
NM_015036.2:c.253C>T
More... 		09/22/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:ENDOD1
Accession:NM_015036
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 85
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGTARWLALGSLFALAGLLEGRLVGEEEAGFGECDKFFYAGTPPAGLAADSHVKICQRAEGAERFATLYSTRDRIPVYSA
FRAPCPAPGGAEQRWLVEPQIDDPNSNLEEAINEAEAITSVNSLGSKQALNTDYLDSDYQRGQLYPFSLSSDVQVATFTL
TNSAPMTQSFQERWYVNLHSLMDRALTPQCGSGEDLYILTGTVPSDYRVKDKVAVPEFVWLAACCAVPGGGWAMGFVKHT
RDSDIIEDVMVKDLQKLLPFNPQLFQNNCGETEQDTEKMKKILEVVNQIQDEERMVQSQKSSSPLSSTRSKRSTLLPPEA
SEGSSSFLGKLMGFIATPFIKLFQLIYYLVVAILKNIVYFLWCVTKQVINGIESCLYRLGSATISYFMAIGEELVSIPWK
VLKVVAKVIRALLRILCCLLKAICRVLSIPVRVLVDVATFPVYTMGAIPIVCKDIALGLGGTVSLLFDTAFGTLGGLFQV
VFSVCKRIGYKVTFDNSGEL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004160780 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ENDOD1 CLINVAR
OMIM 619568 CLINVAR