RGD:156224318 Rat Genome Database

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Variant: RGD:156224318 -  Homo sapiens

RGD ID: 156224318
ClinVar ID: CV2395135
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TOMM22  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 22 39,079,817
GRCh38 22 38,683,812
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_020243.5:c.400G>C
NC_000022.11:g.38683812G>C
NC_000022.10:g.39079817G>C
NM_020243.4:c.400G>C
More... 		02/10/2022 missense variant uncertain significance AllHighlyPenetrant

Gene Symbol:TOMM22
Accession:NM_020243
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 134
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAVAAAGAGEPQSPDELLPKGDAEKPEEELEEDDDEELDETLSERLWGLTEMFPERVRSAAGATFDLSLFVAQKMYRF
SRAALWIGTTSFMILVLPVVFETEKLQMEQQQQLQQRQILLGPNTGLSGGMPGPLPSLPGKI*
.


Database
Acc Id
Source(s)
ClinVar RCV004236812 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene TOMM22 CLINVAR
OMIM 607046 CLINVAR