RGD:9586911 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:9586911 -  Homo sapiens

RGD ID: 9586911
RS ID: rs12623957
ClinVar ID: CV165614
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EDAR  RANBP2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 109,513,654
GRCh38 2 108,897,198
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
p.Cys352Cys
NG_008257.1:g.97175C>T
NC_000002.12:g.108897198G>A
NC_000002.11:g.109513654G>A
More...
07/30/2021 synonymous variant benign|uncertain significance AllHighlyPenetrant; Anhidrotic ectodermal dysplasia, autosomal recessive; Autosomal recessive hypohidrotic ectodermal dysplasia; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal; Ectodermal Dysplasia 3, Anhidrotic; ECTODERMAL DYSPLASIA, ANHIDROTIC; Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:EDAR
Accession:NM_022336
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 352
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAHVGDCTQTPWLPVLVVSLMCSARAEYSNCGENEYYNQTTGLCQECPPCGPGEEPYLSCGYGTKDEDYGCVPCPAEKFS
KGGYQICRRHKDCEGFFRATVLTPGDMENDAECGPCLPGYYMLENRPRNIYGMVCYSCLLAPPNTKECVGATSGASANFP
GTSGSSTLSPFQHAHKELSGQGHLATALIIAMSTIFIMAIAIVLIIMFYILKTKPSAPACCTSHPGKSVEAQVSKDEEKK
EAPDNVVMFSEKDEFEKLTATPAKPTKSENDASSENEQLLSRSVDSDEEPAPDKQGSPELCLLSLVHLAREKSATSNKSA
GIQSRRKKILDVYANVCGVVEGLSPTELPFD*LEKTSRMLSSTYNSEKAVVKTWRHLAESFGLKRDEIGGMTDGMQLFDR
ISTAGYSIPELLTKLVQIERLDAVESLCADILEWAGVVPPASQPHAAS*

Gene Symbol:EDAR
Accession:XM_006712204
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 384
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAHVGDCTQTPWLPVLVVSLMCSARAEYSNCGENEYYNQTTGLCQECPPCGPGEEPYLSCGYGTKDEDYGCVPCPAEKFS
KGGYQICRRHKDCEGFFRATVLTPGDMENDAECGPCLPGYYMLENRPRNIYGMVCYSCLLAPPNTKECVGATSGASANFP
GTSGSSTLSPFQHAHKELSGQGHLATALIIAMSTIFIMAIAIVLIIMFYILKTKPSAPGDGPHAPVPCFLDSPSTPPVGE
PGCSLPPLSPACCTSHPGKSVEAQVSKDEEKKEAPDNVVMFSEKDEFEKLTATPAKPTKSENDASSENEQLLSRSVDSDE
EPAPDKQGSPELCLLSLVHLAREKSATSNKSAGIQSRRKKILDVYANVCGVVEGLSPTELPFD*LEKTSRMLSSTYNSEK
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:24033266   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000143982 CLINVAR
  RCV000150610 CLINVAR
  RCV000269800 CLINVAR
  RCV001133946 CLINVAR
  RCV001520373 CLINVAR
  RCV001657822 CLINVAR
  RCV001657823 CLINVAR
dbSNP (RS) rs12623957 CLINVAR
MedGen C0406701 CLINVAR
  C3661900 CLINVAR
  C3887494 CLINVAR
  C3888065 CLINVAR
  CN169374 CLINVAR
  CN239335 CLINVAR
NCBI Gene EDAR CLINVAR
  RANBP2 CLINVAR
OMIM 129490 CLINVAR
  224900 CLINVAR
  601181 CLINVAR
  604095 CLINVAR
  614941 CLINVAR
SNOMED CT 27025001 CLINVAR