RGD:26914447 Rat Genome Database

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Variant: RGD:26914447 -  Homo sapiens

RGD ID: 26914447
RS ID: rs141067689
ClinVar ID: CV824673
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EDAR  RANBP2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 109,513,672
GRCh38 2 108,897,216
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.1038G>A
NG_008257.1:g.97157G>A
NC_000002.12:g.108897216C>T
NC_000002.11:g.109513672C>T
More...
08/18/2019 synonymous variant uncertain significance 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: T to T (synonymous)
Amino Acid Position: 346
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAHVGDCTQTPWLPVLVVSLMCSARAEYSNCGENEYYNQTTGLCQECPPCGPGEEPYLSCGYGTKDEDYGCVPCPAEKFS
KGGYQICRRHKDCEGFFRATVLTPGDMENDAECGPCLPGYYMLENRPRNIYGMVCYSCLLAPPNTKECVGATSGASANFP
GTSGSSTLSPFQHAHKELSGQGHLATALIIAMSTIFIMAIAIVLIIMFYILKTKPSAPACCTSHPGKSVEAQVSKDEEKK
EAPDNVVMFSEKDEFEKLTATPAKPTKSENDASSENEQLLSRSVDSDEEPAPDKQGSPELCLLSLVHLAREKSATSNKSA
GIQSRRKKILDVYANVCGVVEGLSPTELPFDCLEKTSRMLSSTYNSEKAVVKTWRHLAESFGLKRDEIGGMTDGMQLFDR
ISTAGYSIPELLTKLVQIERLDAVESLCADILEWAGVVPPASQPHAAS*

Gene Symbol:EDAR
Accession:XM_006712204
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 378
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAHVGDCTQTPWLPVLVVSLMCSARAEYSNCGENEYYNQTTGLCQECPPCGPGEEPYLSCGYGTKDEDYGCVPCPAEKFS
KGGYQICRRHKDCEGFFRATVLTPGDMENDAECGPCLPGYYMLENRPRNIYGMVCYSCLLAPPNTKECVGATSGASANFP
GTSGSSTLSPFQHAHKELSGQGHLATALIIAMSTIFIMAIAIVLIIMFYILKTKPSAPGDGPHAPVPCFLDSPSTPPVGE
PGCSLPPLSPACCTSHPGKSVEAQVSKDEEKKEAPDNVVMFSEKDEFEKLTATPAKPTKSENDASSENEQLLSRSVDSDE
EPAPDKQGSPELCLLSLVHLAREKSATSNKSAGIQSRRKKILDVYANVCGVVEGLSPTELPFDCLEKTSRMLSSTYNSEK
AVVKTWRHLAESFGLKRDEIGGMTDGMQLFDRISTAGYSIPELLTKLVQIERLDAVESLCADILEWAGVVPPASQPHAAS
*

Gene Symbol:RANBP2
Accession:NM_006267
Location:INTRON

Gene Symbol:RANBP2
Accession:XM_005264002
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
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:
Accession:
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 RCV002239308 CLINVAR
dbSNP (RS) rs141067689 CLINVAR
MedGen C3888065 CLINVAR
NCBI Gene EDAR CLINVAR
  RANBP2 CLINVAR
OMIM 129490 CLINVAR
  601181 CLINVAR
  604095 CLINVAR
SNOMED CT 27025001 CLINVAR