RGD:8596918 Rat Genome Database

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Variant: RGD:8596918 -  Homo sapiens

RGD ID: 8596918
RS ID: rs121908450
ClinVar ID: CV20888
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EDAR  RANBP2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 109,545,744
GRCh38 2 108,929,288
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_008257.1:g.65085G>A
NC_000002.12:g.108929288C>T
NC_000002.11:g.109545744C>T
NP_071731.1:p.Arg89His
More... 		06/05/2019 missense|missense variant pathogenic|likely pathogenic neonatal/infancy 1-9 / 100 000 Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis; Alpers disease; Alpers progressive infantile poliodystrophy; Alpers Syndrome; Alpers-Huttenlocher Syndrome; Anhidrotic ectodermal dysplasia, autosomal recessive; Autosomal recessive hypohidrotic ectodermal dysplasia; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome; Diffuse cerebral degeneration in infancy; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal; Ectodermal Dysplasia 3, Anhidrotic; Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive; Infantile poliodystrophy; Mitochondrial DNA depletion syndrome 4a; Mitochondrial DNA depletion syndrome 4A (Alpers type); Mitochondrial DNA depletion syndrome 4b; Mitochondrial DNA depletion syndrome 4B, MNGIE type; Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related; MNGIE, POLG-RELATED; Neuronal degeneration of childhood with liver disease, progressive; Poliodystrophia cerebri progressiva; Progressive cerebral poliodystrophy
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:EDAR
Accession:NM_022336
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 89
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAHVGDCTQTPWLPVLVVSLMCSARAEYSNCGENEYYNQTTGLCQECPPCGPGEEPYLSCGYGTKDEDYGCVPCPAEKFS
KGGYQICRLHKDCEGFFRATVLTPGDMENDAECGPCLPGYYMLENRPRNIYGMVCYSCLLAPPNTKECVGATSGASANFP
GTSGSSTLSPFQHAHKELSGQGHLATALIIAMSTIFIMAIAIVLIIMFYILKTKPSAPACCTSHPGKSVEAQVSKDEEKK
EAPDNVVMFSEKDEFEKLTATPAKPTKSENDASSENEQLLSRSVDSDEEPAPDKQGSPELCLLSLVHLAREKSATSNKSA
GIQSRRKKILDVYANVCGVVEGLSPTELPFDCLEKTSRMLSSTYNSEKAVVKTWRHLAESFGLKRDEIGGMTDGMQLFDR
ISTAGYSIPELLTKLVQIERLDAVESLCADILEWAGVVPPASQPHAAS*

Gene Symbol:EDAR
Accession:XM_006712204
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 89
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAHVGDCTQTPWLPVLVVSLMCSARAEYSNCGENEYYNQTTGLCQECPPCGPGEEPYLSCGYGTKDEDYGCVPCPAEKFS
KGGYQICRLHKDCEGFFRATVLTPGDMENDAECGPCLPGYYMLENRPRNIYGMVCYSCLLAPPNTKECVGATSGASANFP
GTSGSSTLSPFQHAHKELSGQGHLATALIIAMSTIFIMAIAIVLIIMFYILKTKPSAPGDGPHAPVPCFLDSPSTPPVGE
PGCSLPPLSPACCTSHPGKSVEAQVSKDEEKKEAPDNVVMFSEKDEFEKLTATPAKPTKSENDASSENEQLLSRSVDSDE
EPAPDKQGSPELCLLSLVHLAREKSATSNKSAGIQSRRKKILDVYANVCGVVEGLSPTELPFDCLEKTSRMLSSTYNSEK
AVVKTWRHLAESFGLKRDEIGGMTDGMQLFDRISTAGYSIPELLTKLVQIERLDAVESLCADILEWAGVVPPASQPHAAS
*

Gene Symbol:RANBP2
Accession:XM_047445367
Location:INTRON

Gene Symbol:RANBP2
Accession:XM_011511575
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:RANBP2
Accession:NM_001415871
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:RANBP2
Accession:NM_006267
Location:INTRON

Gene Symbol:RANBP2
Accession:XM_005264007
Location:INTRON

Gene Symbol:RANBP2
Accession:NM_001415872
Location:INTRON

Gene Symbol:RANBP2
Accession:XM_011511578
Location:INTRON

Gene Symbol:RANBP2
Accession:XM_017004624
Location:INTRON

Gene Symbol:RANBP2
Accession:NM_001415873
Location:INTRON

Gene Symbol:RANBP2
Accession:XM_017004625
Location:INTRON

Gene Symbol:RANBP2
Accession:XM_005264002
Location:INTRON

Gene Symbol:RANBP2
Accession:XM_011511576
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:10431241   PMID:18231121   PMID:20236127   PMID:20979233   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000006206 CLINVAR
  RCV000032598 CLINVAR
  RCV000681480 CLINVAR
  RCV001038628 CLINVAR
  RCV001253315 CLINVAR
dbSNP (RS) rs121908450 CLINVAR
MedGen C0205710 CLINVAR
  C3551587 CLINVAR
  C3887494 CLINVAR
  C3888065 CLINVAR
NCBI Gene EDAR CLINVAR
  RANBP2 CLINVAR
OMIM 129490 CLINVAR
  203700 CLINVAR
  224900 CLINVAR
  601181 CLINVAR
  604095 CLINVAR
  613662 CLINVAR
OMIM Allele 604095.0002 CLINVAR
SNOMED CT 20415001 CLINVAR
  27025001 CLINVAR