RGD:156318343 Rat Genome Database

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Variant: RGD:156318343 -  Homo sapiens

RGD ID: 156318343
ClinVar ID: CV2169513
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC25A22  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 792,897
GRCh38 11 792,897
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001191060.2:c.385A>G
NM_001191061.2:c.385A>G
NM_024698.6:c.385A>G
NG_023407.1:g.10373A>G
More... 		02/27/2022 missense variant uncertain significance Developmental and epileptic encephalopathy; Early infantile epileptic encephalopathy; Ohtahara syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC25A22
Accession:NM_001191061
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 129
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADKQISLPAKLINGGIAGLIGVTCVFPIDLAKTRLQNQQNGQRVYTSMSDCLIKTVRSEGYFGMYRGAAVNLTLVTPEK
AIKLAANDFFRHQLSKDGQKLTLLKEMLAGCGAGTCQVIVTTPMEMLKVQLQDAGRIAAQRKILAAQGQLSAQGGAQPSV
EAPAAPRPTATQLTRDLLRSRGIAGLYKGLGATLLRDVPFSVVYFPLFANLNQLGRPASEEKSPFYVSFLAGCVAGSAAA
VAVNPCDVVKTRLQSLQRGVNEDTYSGILDCARKILRHEGPSAFLKGAYCRALVIAPLFGIAQVVYFLGIAESLLGLLQD
PQA*

Gene Symbol:SLC25A22
Accession:NM_001191060
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 129
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADKQISLPAKLINGGIAGLIGVTCVFPIDLAKTRLQNQQNGQRVYTSMSDCLIKTVRSEGYFGMYRGAAVNLTLVTPEK
AIKLAANDFFRHQLSKDGQKLTLLKEMLAGCGAGTCQVIVTTPMEMLKVQLQDAGRIAAQRKILAAQGQLSAQGGAQPSV
EAPAAPRPTATQLTRDLLRSRGIAGLYKGLGATLLRDVPFSVVYFPLFANLNQLGRPASEEKSPFYVSFLAGCVAGSAAA
VAVNPCDVVKTRLQSLQRGVNEDTYSGILDCARKILRHEGPSAFLKGAYCRALVIAPLFGIAQVVYFLGIAESLLGLLQD
PQA*

Gene Symbol:SLC25A22
Accession:NM_024698
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 129
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADKQISLPAKLINGGIAGLIGVTCVFPIDLAKTRLQNQQNGQRVYTSMSDCLIKTVRSEGYFGMYRGAAVNLTLVTPEK
AIKLAANDFFRHQLSKDGQKLTLLKEMLAGCGAGTCQVIVTTPMEMLKVQLQDAGRIAAQRKILAAQGQLSAQGGAQPSV
EAPAAPRPTATQLTRDLLRSRGIAGLYKGLGATLLRDVPFSVVYFPLFANLNQLGRPASEEKSPFYVSFLAGCVAGSAAA
VAVNPCDVVKTRLQSLQRGVNEDTYSGILDCARKILRHEGPSAFLKGAYCRALVIAPLFGIAQVVYFLGIAESLLGLLQD
PQA*

Gene Symbol:SLC25A22
Accession:XM_011520371
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 129
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADKQISLPAKLINGGIAGLIGVTCVFPIDLAKTRLQNQQNGQRVYTSMSDCLIKTVRSEGYFGMYRGAAVNLTLVTPEK
AIKLAANDFFRHQLSKDGQKLTLLKEMLAGCGAGTCQVIVTTPMEMLKVQLQDAGRIAAQRKILAAQGQLSAQGGAQPSV
EAPAAPRPTATQLTRDLLRSRGIAGLYKGLGATLLRDVPFSVVYFPLFANLNQLGRPASEEKSPFYVSFLAGCVAGSAAA
VAVNPCDVVKTRLQSLQRGVNEDTYSGILDCARKILRHEGPSAFLKGAYCRALVIAPLFGIAQVVYFLGIAESLLGLLQD
PQA*

Gene Symbol:SLC25A22
Accession:XM_011520370
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 129
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADKQISLPAKLINGGIAGLIGVTCVFPIDLAKTRLQNQQNGQRVYTSMSDCLIKTVRSEGYFGMYRGAAVNLTLVTPEK
AIKLAANDFFRHQLSKDGQKLTLLKEMLAGCGAGTCQVIVTTPMEMLKVQLQDAGRIAAQRKILAAQGQLSAQGGAQPSV
EAPAAPRPTATQLTRDLLRSRGIAGLYKGLGATLLRDVPFSVVYFPLFANLNQLGRPASEEKSPFYVSFLAGCVAGSAAA
VAVNPCDVVKTRLQSLQRGVNEDTYSGILDCARKILRHEGPSAFLKGAYCRALVIAPLFGIAQVVYFLGIAESLLGLLQD
PQA*

Gene Symbol:SLC25A22
Accession:XM_011520369
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 129
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADKQISLPAKLINGGIAGLIGVTCVFPIDLAKTRLQNQQNGQRVYTSMSDCLIKTVRSEGYFGMYRGAAVNLTLVTPEK
AIKLAANDFFRHQLSKDGQKLTLLKEMLAGCGAGTCQVIVTTPMEMLKVQLQDAGRIAAQRKILAAQGQLSAQGGAQPSV
EAPAAPRPTATQLTRDLLRSRGIAGLYKGLGATLLRDVPFSVVYFPLFANLNQLGRPASEEKSPFYVSFLAGCVAGSAAA
VAVNPCDVVKTRLQSLQRGVNEDTYSGILDCARKILRHEGPSAFLKGAYCRALVIAPLFGIAQVVYFLGIAESLLGLLQD
PQA*

Gene Symbol:SLC25A22
Accession:XM_024448687
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 129
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADKQISLPAKLINGGIAGLIGVTCVFPIDLAKTRLQNQQNGQRVYTSMSDCLIKTVRSEGYFGMYRGAAVNLTLVTPEK
AIKLAANDFFRHQLSKDGQKLTLLKEMLAGCGAGTCQVIVTTPMEMLKVQLQDAGRIAAQRKILAAQGQLSAQGGAQPSV
EAPAAPRPTATQLTRDLLRSRGIAGLYKGLGATLLRDVPFSVVYFPLFANLNQLGRPASEEKSPFYVSFLAGCVAGSAAA
VAVNPCDVVKTRLQSLQRGVNEDTYSGILDCARKILRHEGPSAFLKGAYCRALVIAPLFGIAQVVYFLGIAESLLGLLQD
PQA*

Gene Symbol:SLC25A22
Accession:XM_024448689
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 129
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADKQISLPAKLINGGIAGLIGVTCVFPIDLAKTRLQNQQNGQRVYTSMSDCLIKTVRSEGYFGMYRGAAVNLTLVTPEK
AIKLAANDFFRHQLSKDGQKLTLLKEMLAGCGAGTCQVIVTTPMEMLKVQLQDAGRIAAQRKILAAQGQLSAQGGAQPSV
EAPAAPRPTATQLTRDLLRSRGIAGLYKGLGATLLRDVPFSVVYFPLFANLNQLGRPASEEKSPFYVSFLAGCVAGSAAA
VAVNPCDVVKTRLQSLQRGVNEDTYSGILDCARKILRHEGPSAFLKGAYCRALVIAPLFGIAQVVYFLGIAESLLGLLQD
PQA*

Gene Symbol:SLC25A22
Accession:XM_024448688
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 129
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADKQISLPAKLINGGIAGLIGVTCVFPIDLAKTRLQNQQNGQRVYTSMSDCLIKTVRSEGYFGMYRGAAVNLTLVTPEK
AIKLAANDFFRHQLSKDGQKLTLLKEMLAGCGAGTCQVIVTTPMEMLKVQLQDAGRIAAQRKILAAQGQLSAQGGAQPSV
EAPAAPRPTATQLTRDLLRSRGIAGLYKGLGATLLRDVPFSVVYFPLFANLNQLGRPASEEKSPFYVSFLAGCVAGSAAA
VAVNPCDVVKTRLQSLQRGVNEDTYSGILDCARKILRHEGPSAFLKGAYCRALVIAPLFGIAQVVYFLGIAESLLGLLQD
PQA*

Gene Symbol:SLC25A22
Accession:XM_047427600
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 129
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADKQISLPAKLINGGIAGLIGVTCVFPIDLAKTRLQNQQNGQRVYTSMSDCLIKTVRSEGYFGMYRGAAVNLTLVTPEK
AIKLAANDFFRHQLSKDGQKLTLLKEMLAGCGAGTCQVIVTTPMEMLKVQLQDAGRIAAQRKILAAQGQLSAQGGAQPSV
EAPAAPRPTATQLTRDLLRSRGIAGLYKGLGATLLRDVPFSVVYFPLFANLNQLGRPASEEKSPFYVSFLAGCVAGSAAA
VAVNPCDVVKTRLQSLQRGVNEDTYSGILDCARKILRHEGPSAFLKGAYCRALVIAPLFGIAQVVYFLGIAESLLGLLQD
PQA*

Gene Symbol:SLC25A22
Accession:XM_047427599
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 129
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADKQISLPAKLINGGIAGLIGVTCVFPIDLAKTRLQNQQNGQRVYTSMSDCLIKTVRSEGYFGMYRGAAVNLTLVTPEK
AIKLAANDFFRHQLSKDGQKLTLLKEMLAGCGAGTCQVIVTTPMEMLKVQLQDAGRIAAQRKILAAQGQLSAQGGAQPSV
EAPAAPRPTATQLTRDLLRSRGIAGLYKGLGATLLRDVPFSVVYFPLFANLNQLGRPASEEKSPFYVSFLAGCVAGSAAA
VAVNPCDVVKTRLQSLQRGVNEDTYSGILDCARKILRHEGPSAFLKGAYCRALVIAPLFGIAQVVYFLGIAESLLGLLQD
PQA*

Gene Symbol:SLC25A22
Accession:XM_047427601
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 129
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADKQISLPAKLINGGIAGLIGVTCVFPIDLAKTRLQNQQNGQRVYTSMSDCLIKTVRSEGYFGMYRGAAVNLTLVTPEK
AIKLAANDFFRHQLSKDGQKLTLLKEMLAGCGAGTCQVIVTTPMEMLKVQLQDAGRIAAQRKILAAQGQLSAQGGAQPSV
EAPAAPRPTATQLTRDLLRSRGIAGLYKGLGATLLRDVPFSVVYFPLFANLNQLGRPASEEKSPFYVSFLAGCVAGSAAA
VAVNPCDVVKTRLQSLQRGVNEDTYSGILDCARKILRHEGPSAFLKGAYCRALVIAPLFGIAQVVYFLGIAESLLGLLQD
PQA*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003028998 CLINVAR
MedGen C0393706 CLINVAR
NCBI Gene SLC25A22 CLINVAR
OMIM 609302 CLINVAR
SNOMED CT 230429005 CLINVAR