RGD:38493622 Rat Genome Database

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Variant: RGD:38493622 -  Homo sapiens

RGD ID: 38493622
RS ID: rs1913781557
ClinVar ID: CV927962
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MAF  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 79,632,884
GRCh38 16 79,598,987
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001031804.3:c.916C>G
NM_005360.5:c.916C>G
NG_016440.1:g.6739C>G
NC_000016.10:g.79598987G>C
More... 		05/23/2019 missense variant uncertain significance Ayme-gripp syndrome; CATARACT 21, CERULEAN, WITH OR WITHOUT MICROCORNEA; CATARACT 21, MULTIPLE TYPES, WITH MICROCORNEA; CATARACT 21, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA; Cataract, congenital, cerulean type, 4; Cataract, pulverulent, juvenile-onset
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MAF
Accession:XM_017023233
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 306
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASELAMSNSDLPTSPLAMEYVNDFDLMKFEVKKEPVETDRIISQCGRLIAGGSLSSTPMSTPCSSVPPSPSFSAPSPGS
GSEQKAHLEDYYWMTGYPQQLNPEALGFSPEDAVEALISNSHQLQGGFDGYARGAQQLAAAAGAGAGASLGGSGEEMGPA
AAVVSAVIAAAAAQSGAGPHYHHHHHHAAGHHHHPTAGAPGAAGSAAASAGGAGGAGGGGPASAGGGGGGGGGGGGGGAA
GAGGALHPHHAAGGLHFDDRFSDEQLVTMSVRELNRQLRGVSKEEVIRLKQKRRTLKNRGYAQSCGFKRVQQRHVLESEK
NQLLQQVDHLKQEISRLVRERDAYKEKYEKLVSSGFRENGSSSDNPSSPEFFMYPRESSTSVM*

Gene Symbol:MAF
Accession:XM_024450279
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 306
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASELAMSNSDLPTSPLAMEYVNDFDLMKFEVKKEPVETDRIISQCGRLIAGGSLSSTPMSTPCSSVPPSPSFSAPSPGS
GSEQKAHLEDYYWMTGYPQQLNPEALGFSPEDAVEALISNSHQLQGGFDGYARGAQQLAAAAGAGAGASLGGSGEEMGPA
AAVVSAVIAAAAAQSGAGPHYHHHHHHAAGHHHHPTAGAPGAAGSAAASAGGAGGAGGGGPASAGGGGGGGGGGGGGGAA
GAGGALHPHHAAGGLHFDDRFSDEQLVTMSVRELNRQLRGVSKEEVIRLKQKRRTLKNRGYAQSCGFKRVQQRHVLESEK
NQLLQQVDHLKQEISRLVRERDAYKEKYEKLVSSGFRENGSSSDNPSSPEFFMYPRESSTSVM*

Gene Symbol:MAF
Accession:NM_005360
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 306
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASELAMSNSDLPTSPLAMEYVNDFDLMKFEVKKEPVETDRIISQCGRLIAGGSLSSTPMSTPCSSVPPSPSFSAPSPGS
GSEQKAHLEDYYWMTGYPQQLNPEALGFSPEDAVEALISNSHQLQGGFDGYARGAQQLAAAAGAGAGASLGGSGEEMGPA
AAVVSAVIAAAAAQSGAGPHYHHHHHHAAGHHHHPTAGAPGAAGSAAASAGGAGGAGGGGPASAGGGGGGGGGGGGGGAA
GAGGALHPHHAAGGLHFDDRFSDEQLVTMSVRELNRQLRGVSKEEVIRLKQKRRTLKNRGYAQSCGFKRVQQRHVLESEK
NQLLQQVDHLKQEISRLVRERDAYKEKYEKLVSSGFRENGSSSDNPSSPEFFITEPTRKLEPSVGYATFWKPQHRVLTSV
FTK*

Gene Symbol:MAF
Accession:XM_017023234
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 306
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASELAMSNSDLPTSPLAMEYVNDFDLMKFEVKKEPVETDRIISQCGRLIAGGSLSSTPMSTPCSSVPPSPSFSAPSPGS
GSEQKAHLEDYYWMTGYPQQLNPEALGFSPEDAVEALISNSHQLQGGFDGYARGAQQLAAAAGAGAGASLGGSGEEMGPA
AAVVSAVIAAAAAQSGAGPHYHHHHHHAAGHHHHPTAGAPGAAGSAAASAGGAGGAGGGGPASAGGGGGGGGGGGGGGAA
GAGGALHPHHAAGGLHFDDRFSDEQLVTMSVRELNRQLRGVSKEEVIRLKQKRRTLKNRGYAQSCGFKRVQQRHVLESEK
NQLLQQVDHLKQEISRLVRERDAYKEKYEKLVSSGFRENGSSSDNPSSPEFFMYPRESSTSVM*

Gene Symbol:MAF
Accession:NM_001031804
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 306
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASELAMSNSDLPTSPLAMEYVNDFDLMKFEVKKEPVETDRIISQCGRLIAGGSLSSTPMSTPCSSVPPSPSFSAPSPGS
GSEQKAHLEDYYWMTGYPQQLNPEALGFSPEDAVEALISNSHQLQGGFDGYARGAQQLAAAAGAGAGASLGGSGEEMGPA
AAVVSAVIAAAAAQSGAGPHYHHHHHHAAGHHHHPTAGAPGAAGSAAASAGGAGGAGGGGPASAGGGGGGGGGGGGGGAA
GAGGALHPHHAAGGLHFDDRFSDEQLVTMSVRELNRQLRGVSKEEVIRLKQKRRTLKNRGYAQSCGFKRVQQRHVLESEK
NQLLQQVDHLKQEISRLVRERDAYKEKYEKLVSSGFRENGSSSDNPSSPEFFM*

Gene Symbol:MAF
Accession:XM_017023235
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 306
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASELAMSNSDLPTSPLAMEYVNDFDLMKFEVKKEPVETDRIISQCGRLIAGGSLSSTPMSTPCSSVPPSPSFSAPSPGS
GSEQKAHLEDYYWMTGYPQQLNPEALGFSPEDAVEALISNSHQLQGGFDGYARGAQQLAAAAGAGAGASLGGSGEEMGPA
AAVVSAVIAAAAAQSGAGPHYHHHHHHAAGHHHHPTAGAPGAAGSAAASAGGAGGAGGGGPASAGGGGGGGGGGGGGGAA
GAGGALHPHHAAGGLHFDDRFSDEQLVTMSVRELNRQLRGVSKEEVIRLKQKRRTLKNRGYAQSCGFKRVQQRHVLESEK
NQLLQQVDHLKQEISRLVRERDAYKEKYEKLVSSGFRENGSSSDNPSSPEFFMYPRESSTSVM*

Gene Symbol:MAF
Accession:XR_001751902
Location:EXON;NON-CODING

Gene Symbol:MAF
Accession:XR_002957803
Location:EXON;NON-CODING

Gene Symbol:MAF
Accession:XR_002957802
Location:EXON;NON-CODING

Gene Symbol:MAF
Accession:XR_002957804
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001224384 CLINVAR
dbSNP (RS) rs1913781557 CLINVAR
MedGen C1857768 CLINVAR
NCBI Gene MAF CLINVAR
OMIM 177075 CLINVAR
  601088 CLINVAR
  610202 CLINVAR