RGD:404979065 Rat Genome Database

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Variant: RGD:404979065 -  Homo sapiens

RGD ID: 404979065
ClinVar ID: CV3099330
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EDAR  RANBP2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 109,546,648
GRCh38 2 108,930,192
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_022336.4:c.102C>T
NG_012210.2:g.215712G>A
NG_008257.1:g.64181C>T
NC_000002.12:g.108930192G>A
More... 		09/27/2023 synonymous variant likely benign Autosomal recessive hypohidrotic ectodermal dysplasia; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome; Ectodermal Dysplasia 3, Anhidrotic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:EDAR
Accession:NM_022336
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 34
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAHVGDCTQTPWLPVLVVSLMCSARAEYSNCGEKEYYNQTTGLCQECPPCGPGEEPYLSCGYGTKDEDYGCVPCPAEKFS
KGGYQICRRHKDCEGFFRATVLTPGDMENDAECGPCLPGYYMLENRPRNIYGMVCYSCLLAPPNTKECVGATSGASANFP
GTSGSSTLSPFQHAHKELSGQGHLATALIIAMSTIFIMAIAIVLIIMFYILKTKPSAPACCTSHPGKSVEAQVSKDEEKK
EAPDNVVMFSEKDEFEKLTATPAKPTKSENDASSENEQLLSRSVDSDEEPAPDKQGSPELCLLSLVHLAREKSATSNKSA
GIQSRRKKILDVYANVCGVVEGLSPTELPFDCLEKTSRMLSSTYNSEKAVVKTWRHLAESFGLKRDEIGGMTDGMQLFDR
ISTAGYSIPELLTKLVQIERLDAVESLCADILEWAGVVPPASQPHAAS*

Gene Symbol:EDAR
Accession:XM_006712204
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 34
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAHVGDCTQTPWLPVLVVSLMCSARAEYSNCGEKEYYNQTTGLCQECPPCGPGEEPYLSCGYGTKDEDYGCVPCPAEKFS
KGGYQICRRHKDCEGFFRATVLTPGDMENDAECGPCLPGYYMLENRPRNIYGMVCYSCLLAPPNTKECVGATSGASANFP
GTSGSSTLSPFQHAHKELSGQGHLATALIIAMSTIFIMAIAIVLIIMFYILKTKPSAPGDGPHAPVPCFLDSPSTPPVGE
PGCSLPPLSPACCTSHPGKSVEAQVSKDEEKKEAPDNVVMFSEKDEFEKLTATPAKPTKSENDASSENEQLLSRSVDSDE
EPAPDKQGSPELCLLSLVHLAREKSATSNKSAGIQSRRKKILDVYANVCGVVEGLSPTELPFDCLEKTSRMLSSTYNSEK
AVVKTWRHLAESFGLKRDEIGGMTDGMQLFDRISTAGYSIPELLTKLVQIERLDAVESLCADILEWAGVVPPASQPHAAS
*

Gene Symbol:RANBP2
Accession:NM_006267
Location:INTRON

Gene Symbol:RANBP2
Accession:XM_005264002
Location:INTRON

Gene Symbol:RANBP2
Accession:XM_005264007
Location:INTRON

Gene Symbol:RANBP2
Accession:XM_011511576
Location:INTRON

Gene Symbol:RANBP2
Accession:XM_011511575
Location:INTRON

Gene Symbol:RANBP2
Accession:XM_011511578
Location:INTRON

Gene Symbol:RANBP2
Accession:XM_017004625
Location:INTRON

Gene Symbol:RANBP2
Accession:XM_017004624
Location:INTRON

Gene Symbol:RANBP2
Accession:XM_047445367
Location:INTRON

Gene Symbol:RANBP2
Accession:NM_001415871
Location:INTRON

Gene Symbol:RANBP2
Accession:NM_001415873
Location:INTRON

Gene Symbol:RANBP2
Accession:NM_001415872
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003791158 CLINVAR
MedGen C3888065 CLINVAR
NCBI Gene EDAR CLINVAR
  RANBP2 CLINVAR
OMIM 129490 CLINVAR
  601181 CLINVAR
  604095 CLINVAR
SNOMED CT 27025001 CLINVAR