RGD:8598645 Rat Genome Database

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Variant: RGD:8598645 -  Homo sapiens

RGD ID: 8598645
RS ID: rs132630309
ClinVar ID: CV26071
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EDA  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 68,836,358
GRCh38 X 69,616,514
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NC_000023.11:g.69616514G>T
NC_000023.10:g.68836358G>T
NP_001390.1:p.Arg69Leu
NG_009809.2:g.5448G>T
More... 		01/29/2024 missense|missense variant pathogenic|benign|likely benign|conflicting interpretations of pathogenicity neonatal/infancy AllHighlyPenetrant; Anhidrotic ectodermal dysplasia X-linked; Christ Siemens Touraine syndrome; Christ-Siemans-Touraine syndrome; CST SYNDROME; Ectodermal dysplasia 1; Ectodermal Dysplasia 1, Anhidrotic; ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED; ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED; ECTODERMAL DYSPLASIA, HYPOHIDROTIC, 1; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:EDA
Accession:NM_001005613
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 69
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGYPEVERRELLPAAAPRERGSQGCGCGGAPARAGEGNSCLLFLGFFGLSLALHLLTLCCYLELRSELLRERGAESRLGG
SGTPGTSGTLSSLGGLDPDSPITSHLGQPSPKQQPLEPGEAALHSDSQDGHQDFDYIISFSYGLQGFC*

Gene Symbol:EDA
Accession:XM_006724630
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 69
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGYPEVERRELLPAAAPRERGSQGCGCGGAPARAGEGNSCLLFLGFFGLSLALHLLTLCCYLELRSELLRERGAESRLGG
SGTPGTSGTLSSLGGLDPDSPITSHLGQPSPKQQPLEPGEAALHSDSQDGHQMALLNFFFPDEKPYSEEESRRVRRNKRS
KSNEGADGPVKNKKKGKKAGPPGPNGPPGPPGPPGPQGPPGIPGIPGIPGTTVMGPPGPPGPPGPQGPPGLQGPSGAADK
AGTRENQPAVVHLQGQGSAIQVKNGGVLNDWSRITMNPKVFKLHPRSGELEVLVDGTYFIYSQVEVYYINFTDFASYEVV
VDEKPFLQCTRSIETGKTNYNTCYTAGVCLLKARQKIAVKMVHADISINMSKHTTFFGAIRLGEAPAS*

Gene Symbol:EDA
Accession:NM_001005610
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 69
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGYPEVERRELLPAAAPRERGSQGCGCGGAPARAGEGNSCLLFLGFFGLSLALHLLTLCCYLELRSELLRERGAESRLGG
SGTPGTSGTLSSLGGLDPDSPITSHLGQPSPKQQPLEPGEAALHSDSQDGHQGHQ*

Gene Symbol:EDA
Accession:XM_011530885
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 69
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGYPEVERRELLPAAAPRERGSQGCGCGGAPARAGEGNSCLLFLGFFGLSLALHLLTLCCYLELRSELLRERGAESRLGG
SGTPGTSGTLSSLGGLDPDSPITSHLGQPSPKQQPLEPGEAALHSDSQDGHQMALLNFFFPDEKPYSEEESRRVRRNKRS
KSNEGADGPVKNKKKGKKAGPPGPNGPPGPPGPPGPQGPPGIPGIPGIPGTTVMGPPGPPGPPGPQGPPGLQGPSGAADK
AGTRENQPAVVHLQGQGSAIQVKNDLSGGVLNDWSRITMNPKVFKLHPRSGELEVLVDGTYFIYSQPFLPLLLSSSCPGP
APQVHQCPSTSVPPLFASMGVAPWR*

Gene Symbol:EDA
Accession:NM_001399
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 69
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGYPEVERRELLPAAAPRERGSQGCGCGGAPARAGEGNSCLLFLGFFGLSLALHLLTLCCYLELRSELLRERGAESRLGG
SGTPGTSGTLSSLGGLDPDSPITSHLGQPSPKQQPLEPGEAALHSDSQDGHQMALLNFFFPDEKPYSEEESRRVRRNKRS
KSNEGADGPVKNKKKGKKAGPPGPNGPPGPPGPPGPQGPPGIPGIPGIPGTTVMGPPGPPGPPGPQGPPGLQGPSGAADK
AGTRENQPAVVHLQGQGSAIQVKNDLSGGVLNDWSRITMNPKVFKLHPRSGELEVLVDGTYFIYSQVEVYYINFTDFASY
EVVVDEKPFLQCTRSIETGKTNYNTCYTAGVCLLKARQKIAVKMVHADISINMSKHTTFFGAIRLGEAPAS*

Gene Symbol:EDA
Accession:XM_017029337
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 69
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGYPEVERRELLPAAAPRERGSQGCGCGGAPARAGEGNSCLLFLGFFGLSLALHLLTLCCYLELRSELLRERGAESRLGG
SGTPGTSGTLSSLGGLDPDSPITSHLGQPSPKQQPLEPGEAALHSDSQDGHQS*

Gene Symbol:EDA
Accession:NM_001005612
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 69
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGYPEVERRELLPAAAPRERGSQGCGCGGAPARAGEGNSCLLFLGFFGLSLALHLLTLCCYLELRSELLRERGAESRLGG
SGTPGTSGTLSSLGGLDPDSPITSHLGQPSPKQQPLEPGEAALHSDSQDGHQMALLNFFFPDEKPYSEEESRRVRRNKRS
KSNEGADGPVKNKKKGKKAGPPGPNGPPGPPGPPGPQGPPGIPGIPGIPGTTVMGPPGPPGPPGPQGPPGLQGPSGAADK
AGTRENQPAVVHLQGQGSAIQVKNGGVLNDWSRITMNPKVFKLHPRSGELEVLVDGTYFIYSQVYYINFTDFASYEVVVD
EKPFLQCTRSIETGKTNYNTCYTAGVCLLKARQKIAVKMVHADISINMSKHTTFFGAIRLGEAPAS*

Gene Symbol:EDA
Accession:NM_001005609
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 69
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGYPEVERRELLPAAAPRERGSQGCGCGGAPARAGEGNSCLLFLGFFGLSLALHLLTLCCYLELRSELLRERGAESRLGG
SGTPGTSGTLSSLGGLDPDSPITSHLGQPSPKQQPLEPGEAALHSDSQDGHQMALLNFFFPDEKPYSEEESRRVRRNKRS
KSNEGADGPVKNKKKGKKAGPPGPNGPPGPPGPPGPQGPPGIPGIPGIPGTTVMGPPGPPGPPGPQGPPGLQGPSGAADK
AGTRENQPAVVHLQGQGSAIQVKNDLSGGVLNDWSRITMNPKVFKLHPRSGELEVLVDGTYFIYSQVYYINFTDFASYEV
VVDEKPFLQCTRSIETGKTNYNTCYTAGVCLLKARQKIAVKMVHADISINMSKHTTFFGAIRLGEAPAS*

Gene Symbol:EDA
Accession:XM_017029336
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 69
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGYPEVERRELLPAAAPRERGSQGCGCGGAPARAGEGNSCLLFLGFFGLSLALHLLTLCCYLELRSELLRERGAESRLGG
SGTPGTSGTLSSLGGLDPDSPITSHLGQPSPKQQPLEPGEAALHSDSQDGHQMALLNFFFPDEKPYSEEESRRVRRNKRS
KSNEGADGPVKNKKKGKKAGPPGPNGPPGPPGPPGPQGPPGIPGIPGIPGTTVMGPPGPPGPPGPQGPPGLQGPSGAADK
AGTRENQPAVVHLQGQGSAIQVKNDLSGGVLNDWSRITMNPKVFKLHPRSGELEVYYINFTDFASYEVVVDEKPFLQCTR
SIETGKTNYNTCYTAGVCLLKARQKIAVKMVHADISINMSKHTTFFGAIRLGEAPAS*

Gene Symbol:EDA
Accession:XR_001755660
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:8696334   PMID:11378824   PMID:19960895   PMID:21357618   PMID:23553579   PMID:24033266   PMID:24631698   PMID:24715423   PMID:25741868   PMID:28492532   PMID:30088137  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000011779 CLINVAR
  RCV000218834 CLINVAR
  RCV000432524 CLINVAR
  RCV003894799 CLINVAR
dbSNP (RS) rs132630309 CLINVAR
MedGen C0162359 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene EDA CLINVAR
OMIM 300451 CLINVAR
  305100 CLINVAR
OMIM Allele 300451.0002 CLINVAR
SNOMED CT 239007005 CLINVAR