RGD:28909638 Rat Genome Database

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Variant: RGD:28909638 -  Homo sapiens

RGD ID: 28909638
RS ID: rs2051773949
ClinVar ID: CV860394
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GFAP  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 42,989,080
GRCh38 17 44,911,712
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001363846.2:c.866T>A
NC_000017.11:g.44911712A>T
NM_002055.5:c.866T>A
NG_008401.1:g.8835T>A
More... 		01/01/2020 nonsense uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:GFAP
Accession:NM_002055
Location:EXON
Amino Acid Prediction: L to * (nonsynonymous)
Amino Acid Position: 289
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MERRRITSAARRSYVSSGEMMVGGLAPGRRLGPGTRLSLARMPPPLPTRVDFSLAGALNAGFKETRASERAEMMELNDRF
ASYIEKVRFLEQQNKALAAELNQLRAKEPTKLADVYQAELRELRLRLDQLTANSARLEVERDNLAQDLATVRQKLQDETN
LRLEAENNLAAYRQEADEATLARLDLERKIESLEEEIRFLRKIHEEEVRELQEQLARQQVHVELDVAKPDLTAALKEIRT
QYEAMASSNMHEAEEWYRSKFADLTDAAARNAELLRQAKHEANDYRRQ*QSLTCDLESLRGTNESLERQMREQEERHVRE
AASYQEALARLEEEGQSLKDEMARHLQEYQDLLNVKLALDIEIATYRKLLEGEENRITIPVQTFSNLQIRETSLDTKSVS
EGHLKRNIVVKTVEMRDGEVIKESKQEHKDVM*

Gene Symbol:GFAP
Accession:NM_001242376
Location:EXON
Amino Acid Prediction: L to * (nonsynonymous)
Amino Acid Position: 289
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MERRRITSAARRSYVSSGEMMVGGLAPGRRLGPGTRLSLARMPPPLPTRVDFSLAGALNAGFKETRASERAEMMELNDRF
ASYIEKVRFLEQQNKALAAELNQLRAKEPTKLADVYQAELRELRLRLDQLTANSARLEVERDNLAQDLATVRQKLQDETN
LRLEAENNLAAYRQEADEATLARLDLERKIESLEEEIRFLRKIHEEEVRELQEQLARQQVHVELDVAKPDLTAALKEIRT
QYEAMASSNMHEAEEWYRSKFADLTDAAARNAELLRQAKHEANDYRRQ*QSLTCDLESLRGTNESLERQMREQEERHVRE
AASYQEALARLEEEGQSLKDEMARHLQEYQDLLNVKLALDIEIATYRKLLEGEENRITIPVQTFSNLQIRGQYSRASWEG
HWSPAPSSRACRLLQTGTEDQGKGIQLSLGAFVTLQRS*

Gene Symbol:GFAP
Accession:NM_001363846
Location:EXON
Amino Acid Prediction: L to * (nonsynonymous)
Amino Acid Position: 289
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MERRRITSAARRSYVSSGEMMVGGLAPGRRLGPGTRLSLARMPPPLPTRVDFSLAGALNAGFKETRASERAEMMELNDRF
ASYIEKVRFLEQQNKALAAELNQLRAKEPTKLADVYQAELRELRLRLDQLTANSARLEVERDNLAQDLATVRQKLQDETN
LRLEAENNLAAYRQEADEATLARLDLERKIESLEEEIRFLRKIHEEEVRELQEQLARQQVHVELDVAKPDLTAALKEIRT
QYEAMASSNMHEAEEWYRSKFADLTDAAARNAELLRQAKHEANDYRRQ*QSLTCDLESLRGTNESLERQMREQEERHVRE
AASYQEALARLEEEGQSLKDEMARHLQEYQDLLNVKLALDIEIATYRKLLEGEENRITIPVQTFSNLQIRGGKSTKDGEN
HKVTRYLKSLTIRVIPIQAHQIVNGTPPARETSLDTKSVSEGHLKRNIVVKTVEMRDGEVIKESKQEHKDVM*

Gene Symbol:GFAP
Accession:NM_001131019
Location:EXON
Amino Acid Prediction: L to * (nonsynonymous)
Amino Acid Position: 289
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MERRRITSAARRSYVSSGEMMVGGLAPGRRLGPGTRLSLARMPPPLPTRVDFSLAGALNAGFKETRASERAEMMELNDRF
ASYIEKVRFLEQQNKALAAELNQLRAKEPTKLADVYQAELRELRLRLDQLTANSARLEVERDNLAQDLATVRQKLQDETN
LRLEAENNLAAYRQEADEATLARLDLERKIESLEEEIRFLRKIHEEEVRELQEQLARQQVHVELDVAKPDLTAALKEIRT
QYEAMASSNMHEAEEWYRSKFADLTDAAARNAELLRQAKHEANDYRRQ*QSLTCDLESLRGTNESLERQMREQEERHVRE
AASYQEALARLEEEGQSLKDEMARHLQEYQDLLNVKLALDIEIATYRKLLEGEENRITIPVQTFSNLQIRGGKSTKDGEN
HKVTRYLKSLTIRVIPIQAHQIVNGTPPARG*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001093446 CLINVAR
dbSNP (RS) rs2051773949 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GFAP CLINVAR
OMIM 137780 CLINVAR