RGD:405651079 Rat Genome Database

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Variant: RGD:405651079 -  Homo sapiens

RGD ID: 405651079
ClinVar ID: CV3281319
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MAFG  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 79,880,567
GRCh38 17 81,922,691
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000017.11:g.81922691C>T
NC_000017.10:g.79880567C>T
NM_032711.3:c.403G>A
NP_002350.1:p.Ala135Thr
More...
09/29/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:MAFG
Accession:NM_032711
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 135
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTPNKGNKALKVKREPGENGTSLTDEELVTMSVRELNQHLRGLSKEEIVQLKQRRRTLKNRGYAASCRVKRVTQKEELE
KQKAELQQEVEKLASENASMKLELDALRSKYEALQTFARTVARSPVAPARGPLATGLGPLVPGKVAATSVITIVKSKTDA
RS*

Gene Symbol:MAFG
Accession:XM_047436068
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 135
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTPNKGNKALKVKREPGENGTSLTDEELVTMSVRELNQHLRGLSKEEIVQLKQRRRTLKNRGYAASCRVKRVTQKEELE
KQKAELQQEVEKLASENASMKLELDALRSKYEALQTFARTVARSPVAPARGPLATGLGPLVPGKVAATSVITIVKSKTDA
RS*

Gene Symbol:MAFG
Accession:XM_047436070
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 135
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTPNKGNKALKVKREPGENGTSLTDEELVTMSVRELNQHLRGLSKEEIVQLKQRRRTLKNRGYAASCRVKRVTQKEELE
KQKAELQQEVEKLASENASMKLELDALRSKYEALQTFARTVARSPVAPARGPLATGLGPLVPGKVAATSVITIVKSKTDA
RS*

Gene Symbol:MAFG
Accession:NM_002359
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 135
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTPNKGNKALKVKREPGENGTSLTDEELVTMSVRELNQHLRGLSKEEIVQLKQRRRTLKNRGYAASCRVKRVTQKEELE
KQKAELQQEVEKLASENASMKLELDALRSKYEALQTFARTVARSPVAPARGPLATGLGPLVPGKVAATSVITIVKSKTDA
RS*

Gene Symbol:MAFG
Accession:XM_047436069
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 135
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTPNKGNKALKVKREPGENGTSLTDEELVTMSVRELNQHLRGLSKEEIVQLKQRRRTLKNRGYAASCRVKRVTQKEELE
KQKAELQQEVEKLASENASMKLELDALRSKYEALQTFARTVARSPVAPARGPLATGLGPLVPGKVAATSVITIVKSKTDA
RS*

Gene Symbol:MAFG
Accession:XM_047436071
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 135
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTPNKGNKALKVKREPGENGTSLTDEELVTMSVRELNQHLRGLSKEEIVQLKQRRRTLKNRGYAASCRVKRVTQKEELE
KQKAELQQEVEKLASENASMKLELDALRSKYEALQTFARTVARSPVAPARGPLATGLGPLVPGKVAATSVITIVKSKTDA
RS*

Gene Symbol:MAFG
Accession:XM_047436072
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 135
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTPNKGNKALKVKREPGENGTSLTDEELVTMSVRELNQHLRGLSKEEIVQLKQRRRTLKNRGYAASCRVKRVTQKEELE
KQKAELQQEVEKLASENASMKLELDALRSKYEALQTFARTVARSPVAPARGPLATGLGPLVPGKVAATSVITIVKSKTDA
RS*

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004413443 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene MAFG CLINVAR
OMIM 602020 CLINVAR