RGD:8607010 Rat Genome Database

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Variant: RGD:8607010 -  Homo sapiens

RGD ID: 8607010
RS ID: rs397516661
ClinVar ID: CV53359
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EDA  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 68,836,499
GRCh38 X 69,616,655
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.69616655T>A
NC_000023.10:g.68836499T>A
NP_001390.1:p.Leu116Ter
c.347T>A
More... 		09/04/2011 nonsense|stop-gain pathogenic neonatal/infancy 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
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:EDA
Accession:NM_001005613
Location:EXON
Amino Acid Prediction: L to * (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGYPEVERRELLPAAAPRERGSQGCGCGGAPARAGEGNSCLLFLGFFGLSLALHLLTLCCYLELRSELRRERGAESRLGG
SGTPGTSGTLSSLGGLDPDSPITSHLGQPSPKQQP*EPGEAALHSDSQDGHQDFDYIISFSYGLQGFC*

Gene Symbol:EDA
Accession:NM_001005612
Location:EXON
Amino Acid Prediction: L to * (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGYPEVERRELLPAAAPRERGSQGCGCGGAPARAGEGNSCLLFLGFFGLSLALHLLTLCCYLELRSELRRERGAESRLGG
SGTPGTSGTLSSLGGLDPDSPITSHLGQPSPKQQP*EPGEAALHSDSQDGHQMALLNFFFPDEKPYSEEESRRVRRNKRS
KSNEGADGPVKNKKKGKKAGPPGPNGPPGPPGPPGPQGPPGIPGIPGIPGTTVMGPPGPPGPPGPQGPPGLQGPSGAADK
AGTRENQPAVVHLQGQGSAIQVKNGGVLNDWSRITMNPKVFKLHPRSGELEVLVDGTYFIYSQVYYINFTDFASYEVVVD
EKPFLQCTRSIETGKTNYNTCYTAGVCLLKARQKIAVKMVHADISINMSKHTTFFGAIRLGEAPAS*

Gene Symbol:EDA
Accession:XM_006724630
Location:EXON
Amino Acid Prediction: L to * (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGYPEVERRELLPAAAPRERGSQGCGCGGAPARAGEGNSCLLFLGFFGLSLALHLLTLCCYLELRSELRRERGAESRLGG
SGTPGTSGTLSSLGGLDPDSPITSHLGQPSPKQQP*EPGEAALHSDSQDGHQMALLNFFFPDEKPYSEEESRRVRRNKRS
KSNEGADGPVKNKKKGKKAGPPGPNGPPGPPGPPGPQGPPGIPGIPGIPGTTVMGPPGPPGPPGPQGPPGLQGPSGAADK
AGTRENQPAVVHLQGQGSAIQVKNGGVLNDWSRITMNPKVFKLHPRSGELEVLVDGTYFIYSQVEVYYINFTDFASYEVV
VDEKPFLQCTRSIETGKTNYNTCYTAGVCLLKARQKIAVKMVHADISINMSKHTTFFGAIRLGEAPAS*

Gene Symbol:EDA
Accession:NM_001005610
Location:EXON
Amino Acid Prediction: L to * (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGYPEVERRELLPAAAPRERGSQGCGCGGAPARAGEGNSCLLFLGFFGLSLALHLLTLCCYLELRSELRRERGAESRLGG
SGTPGTSGTLSSLGGLDPDSPITSHLGQPSPKQQP*EPGEAALHSDSQDGHQGHQ*

Gene Symbol:EDA
Accession:NM_001399
Location:EXON
Amino Acid Prediction: L to * (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGYPEVERRELLPAAAPRERGSQGCGCGGAPARAGEGNSCLLFLGFFGLSLALHLLTLCCYLELRSELRRERGAESRLGG
SGTPGTSGTLSSLGGLDPDSPITSHLGQPSPKQQP*EPGEAALHSDSQDGHQMALLNFFFPDEKPYSEEESRRVRRNKRS
KSNEGADGPVKNKKKGKKAGPPGPNGPPGPPGPPGPQGPPGIPGIPGIPGTTVMGPPGPPGPPGPQGPPGLQGPSGAADK
AGTRENQPAVVHLQGQGSAIQVKNDLSGGVLNDWSRITMNPKVFKLHPRSGELEVLVDGTYFIYSQVEVYYINFTDFASY
EVVVDEKPFLQCTRSIETGKTNYNTCYTAGVCLLKARQKIAVKMVHADISINMSKHTTFFGAIRLGEAPAS*

Gene Symbol:EDA
Accession:XM_017029337
Location:EXON
Amino Acid Prediction: L to * (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGYPEVERRELLPAAAPRERGSQGCGCGGAPARAGEGNSCLLFLGFFGLSLALHLLTLCCYLELRSELRRERGAESRLGG
SGTPGTSGTLSSLGGLDPDSPITSHLGQPSPKQQP*EPGEAALHSDSQDGHQS*

Gene Symbol:EDA
Accession:XM_011530885
Location:EXON
Amino Acid Prediction: L to * (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGYPEVERRELLPAAAPRERGSQGCGCGGAPARAGEGNSCLLFLGFFGLSLALHLLTLCCYLELRSELRRERGAESRLGG
SGTPGTSGTLSSLGGLDPDSPITSHLGQPSPKQQP*EPGEAALHSDSQDGHQMALLNFFFPDEKPYSEEESRRVRRNKRS
KSNEGADGPVKNKKKGKKAGPPGPNGPPGPPGPPGPQGPPGIPGIPGIPGTTVMGPPGPPGPPGPQGPPGLQGPSGAADK
AGTRENQPAVVHLQGQGSAIQVKNDLSGGVLNDWSRITMNPKVFKLHPRSGELEVLVDGTYFIYSQPFLPLLLSSSCPGP
APQVHQCPSTSVPPLFASMGVAPWR*

Gene Symbol:EDA
Accession:XM_017029336
Location:EXON
Amino Acid Prediction: L to * (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGYPEVERRELLPAAAPRERGSQGCGCGGAPARAGEGNSCLLFLGFFGLSLALHLLTLCCYLELRSELRRERGAESRLGG
SGTPGTSGTLSSLGGLDPDSPITSHLGQPSPKQQP*EPGEAALHSDSQDGHQMALLNFFFPDEKPYSEEESRRVRRNKRS
KSNEGADGPVKNKKKGKKAGPPGPNGPPGPPGPPGPQGPPGIPGIPGIPGTTVMGPPGPPGPPGPQGPPGLQGPSGAADK
AGTRENQPAVVHLQGQGSAIQVKNDLSGGVLNDWSRITMNPKVFKLHPRSGELEVYYINFTDFASYEVVVDEKPFLQCTR
SIETGKTNYNTCYTAGVCLLKARQKIAVKMVHADISINMSKHTTFFGAIRLGEAPAS*

Gene Symbol:EDA
Accession:NM_001005609
Location:EXON
Amino Acid Prediction: L to * (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGYPEVERRELLPAAAPRERGSQGCGCGGAPARAGEGNSCLLFLGFFGLSLALHLLTLCCYLELRSELRRERGAESRLGG
SGTPGTSGTLSSLGGLDPDSPITSHLGQPSPKQQP*EPGEAALHSDSQDGHQMALLNFFFPDEKPYSEEESRRVRRNKRS
KSNEGADGPVKNKKKGKKAGPPGPNGPPGPPGPPGPQGPPGIPGIPGIPGTTVMGPPGPPGPPGPQGPPGLQGPSGAADK
AGTRENQPAVVHLQGQGSAIQVKNDLSGGVLNDWSRITMNPKVFKLHPRSGELEVLVDGTYFIYSQVYYINFTDFASYEV
VVDEKPFLQCTRSIETGKTNYNTCYTAGVCLLKARQKIAVKMVHADISINMSKHTTFFGAIRLGEAPAS*

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

Variant Samples
Additional References at PubMed
PMID:24033266  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000037168 CLINVAR
dbSNP (RS) rs397516661 CLINVAR
MedGen C0162359 CLINVAR
NCBI Gene EDA CLINVAR
OMIM 300451 CLINVAR
  305100 CLINVAR
SNOMED CT 239007005 CLINVAR