RGD:8622309 Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Variant: RGD:8622309 -  Homo sapiens

RGD ID: 8622309
RS ID: rs62636501
ClinVar ID: CV77328
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GFAP  LOC130060994  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 42,988,652
GRCh38 17 44,911,284
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_008401.1:g.9263A>T
NC_000017.11:g.44911284T>A
NC_000017.10:g.42988652T>A
NM_001131019.3:c.1079A>T
More... 		01/03/2022 missense|missense variant pathogenic|not provided all ages <1 / 1 000 000 Alexander's disease; Alexanders leukodystrophy; Megalencephaly in infancy accompanied by progressive spasticity and dementia; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GFAP
Accession:NM_001131019
Location:EXON
Amino Acid Prediction: D to V (nonsynonymous)
Amino Acid Position: 360
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MERRRITSAARRSYVSSGEMMVGGLAPGRRLGPGTRLSLARMPPPLPTRVDFSLAGALNAGFKETRASERAEMMELNDRF
ASYIEKVRFLEQQNKALAAELNQLRAKEPTKLADVYQAELRELRLRLDQLTANSARLEVERDNLAQDLATVRQKLQDETN
LRLEAENNLAAYRQEADEATLARLDLERKIESLEEEIRFLRKIHEEEVRELQEQLARQQVHVELDVAKPDLTAALKEIRT
QYEAMASSNMHEAEEWYRSKFADLTDAAARNAELLRQAKHEANDYRRQLQSLTCDLESLRGTNESLERQMREQEERHVRE
AASYQEALARLEEEGQSLKDEMARHLQEYQDLLNVKLALVIEIATYRKLLEGEENRITIPVQTFSNLQIRGGKSTKDGEN
HKVTRYLKSLTIRVIPIQAHQIVNGTPPARG*

Gene Symbol:GFAP
Accession:NM_001242376
Location:EXON
Amino Acid Prediction: D to V (nonsynonymous)
Amino Acid Position: 360
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MERRRITSAARRSYVSSGEMMVGGLAPGRRLGPGTRLSLARMPPPLPTRVDFSLAGALNAGFKETRASERAEMMELNDRF
ASYIEKVRFLEQQNKALAAELNQLRAKEPTKLADVYQAELRELRLRLDQLTANSARLEVERDNLAQDLATVRQKLQDETN
LRLEAENNLAAYRQEADEATLARLDLERKIESLEEEIRFLRKIHEEEVRELQEQLARQQVHVELDVAKPDLTAALKEIRT
QYEAMASSNMHEAEEWYRSKFADLTDAAARNAELLRQAKHEANDYRRQLQSLTCDLESLRGTNESLERQMREQEERHVRE
AASYQEALARLEEEGQSLKDEMARHLQEYQDLLNVKLALVIEIATYRKLLEGEENRITIPVQTFSNLQIRGQYSRASWEG
HWSPAPSSRACRLLQTGTEDQGKGIQLSLGAFVTLQRS*

Gene Symbol:GFAP
Accession:NM_001363846
Location:EXON
Amino Acid Prediction: D to V (nonsynonymous)
Amino Acid Position: 360
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MERRRITSAARRSYVSSGEMMVGGLAPGRRLGPGTRLSLARMPPPLPTRVDFSLAGALNAGFKETRASERAEMMELNDRF
ASYIEKVRFLEQQNKALAAELNQLRAKEPTKLADVYQAELRELRLRLDQLTANSARLEVERDNLAQDLATVRQKLQDETN
LRLEAENNLAAYRQEADEATLARLDLERKIESLEEEIRFLRKIHEEEVRELQEQLARQQVHVELDVAKPDLTAALKEIRT
QYEAMASSNMHEAEEWYRSKFADLTDAAARNAELLRQAKHEANDYRRQLQSLTCDLESLRGTNESLERQMREQEERHVRE
AASYQEALARLEEEGQSLKDEMARHLQEYQDLLNVKLALVIEIATYRKLLEGEENRITIPVQTFSNLQIRGGKSTKDGEN
HKVTRYLKSLTIRVIPIQAHQIVNGTPPARETSLDTKSVSEGHLKRNIVVKTVEMRDGEVIKESKQEHKDVM*

Gene Symbol:GFAP
Accession:NM_002055
Location:EXON
Amino Acid Prediction: D to V (nonsynonymous)
Amino Acid Position: 360
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MERRRITSAARRSYVSSGEMMVGGLAPGRRLGPGTRLSLARMPPPLPTRVDFSLAGALNAGFKETRASERAEMMELNDRF
ASYIEKVRFLEQQNKALAAELNQLRAKEPTKLADVYQAELRELRLRLDQLTANSARLEVERDNLAQDLATVRQKLQDETN
LRLEAENNLAAYRQEADEATLARLDLERKIESLEEEIRFLRKIHEEEVRELQEQLARQQVHVELDVAKPDLTAALKEIRT
QYEAMASSNMHEAEEWYRSKFADLTDAAARNAELLRQAKHEANDYRRQLQSLTCDLESLRGTNESLERQMREQEERHVRE
AASYQEALARLEEEGQSLKDEMARHLQEYQDLLNVKLALVIEIATYRKLLEGEENRITIPVQTFSNLQIRETSLDTKSVS
EGHLKRNIVVKTVEMRDGEVIKESKQEHKDVM*
Variant Samples
Additional References at PubMed
PMID:21533827   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000056824 CLINVAR
  RCV000192162 CLINVAR
dbSNP (RS) rs62636501 CLINVAR
MedGen C0270726 CLINVAR
  C3661900 CLINVAR
NCBI Gene GFAP CLINVAR
  LOC130060994 CLINVAR
OMIM 137780 CLINVAR
  203450 CLINVAR
SNOMED CT 81854007 CLINVAR