RGD:8607027 Rat Genome Database

Variant: RGD:8607027 - Homo sapiens

RGD ID:

8607027

RS ID:

rs397516675

ClinVar ID:

CV53376

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

EDA

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	X	69,253,276
GRCh38	X	70,033,426

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Age of Onset	Trait Synonyms
NC_000023.11:g.70033426G>T NC_000023.10:g.69253276G>T NP_001390.1:p.Trp274Cys c.822G>T More...	07/22/2011	missense\|missense variant	likely 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

ectodermal dysplasia 1 (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	EDA
Accession:	XM_006724630
Location:	EXON
Amino Acid Prediction:	W to C (nonsynonymous)
Amino Acid Position:	271

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGYPEVERRELLPAAAPRERGSQGCGCGGAPARAGEGNSCLLFLGFFGLSLALHLLTLCCYLELRSELRRERGAESRLGG SGTPGTSGTLSSLGGLDPDSPITSHLGQPSPKQQPLEPGEAALHSDSQDGHQMALLNFFFPDEKPYSEEESRRVRRNKRS KSNEGADGPVKNKKKGKKAGPPGPNGPPGPPGPPGPQGPPGIPGIPGIPGTTVMGPPGPPGPPGPQGPPGLQGPSGAADK AGTRENQPAVVHLQGQGSAIQVKNGGVLNDCSRITMNPKVFKLHPRSGELEVLVDGTYFIYSQVEVYYINFTDFASYEVV VDEKPFLQCTRSIETGKTNYNTCYTAGVCLLKARQKIAVKMVHADISINMSKHTTFFGAIRLGEAPAS*

Gene Symbol:	EDA
Accession:	XM_017029336
Location:	EXON
Amino Acid Prediction:	W to C (nonsynonymous)
Amino Acid Position:	274

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGYPEVERRELLPAAAPRERGSQGCGCGGAPARAGEGNSCLLFLGFFGLSLALHLLTLCCYLELRSELRRERGAESRLGG SGTPGTSGTLSSLGGLDPDSPITSHLGQPSPKQQPLEPGEAALHSDSQDGHQMALLNFFFPDEKPYSEEESRRVRRNKRS KSNEGADGPVKNKKKGKKAGPPGPNGPPGPPGPPGPQGPPGIPGIPGIPGTTVMGPPGPPGPPGPQGPPGLQGPSGAADK AGTRENQPAVVHLQGQGSAIQVKNDLSGGVLNDCSRITMNPKVFKLHPRSGELEVYYINFTDFASYEVVVDEKPFLQCTR SIETGKTNYNTCYTAGVCLLKARQKIAVKMVHADISINMSKHTTFFGAIRLGEAPAS*

Gene Symbol:	EDA
Accession:	XM_011530885
Location:	EXON
Amino Acid Prediction:	W to C (nonsynonymous)
Amino Acid Position:	274

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGYPEVERRELLPAAAPRERGSQGCGCGGAPARAGEGNSCLLFLGFFGLSLALHLLTLCCYLELRSELRRERGAESRLGG SGTPGTSGTLSSLGGLDPDSPITSHLGQPSPKQQPLEPGEAALHSDSQDGHQMALLNFFFPDEKPYSEEESRRVRRNKRS KSNEGADGPVKNKKKGKKAGPPGPNGPPGPPGPPGPQGPPGIPGIPGIPGTTVMGPPGPPGPPGPQGPPGLQGPSGAADK AGTRENQPAVVHLQGQGSAIQVKNDLSGGVLNDCSRITMNPKVFKLHPRSGELEVLVDGTYFIYSQPFLPLLLSSSCPGP APQVHQCPSTSVPPLFASMGVAPWR*

Gene Symbol:	EDA
Accession:	NM_001005612
Location:	EXON
Amino Acid Prediction:	W to C (nonsynonymous)
Amino Acid Position:	271

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGYPEVERRELLPAAAPRERGSQGCGCGGAPARAGEGNSCLLFLGFFGLSLALHLLTLCCYLELRSELRRERGAESRLGG SGTPGTSGTLSSLGGLDPDSPITSHLGQPSPKQQPLEPGEAALHSDSQDGHQMALLNFFFPDEKPYSEEESRRVRRNKRS KSNEGADGPVKNKKKGKKAGPPGPNGPPGPPGPPGPQGPPGIPGIPGIPGTTVMGPPGPPGPPGPQGPPGLQGPSGAADK AGTRENQPAVVHLQGQGSAIQVKNGGVLNDCSRITMNPKVFKLHPRSGELEVLVDGTYFIYSQVYYINFTDFASYEVVVD EKPFLQCTRSIETGKTNYNTCYTAGVCLLKARQKIAVKMVHADISINMSKHTTFFGAIRLGEAPAS*

Gene Symbol:	EDA
Accession:	NM_001399
Location:	EXON
Amino Acid Prediction:	W to C (nonsynonymous)
Amino Acid Position:	274

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGYPEVERRELLPAAAPRERGSQGCGCGGAPARAGEGNSCLLFLGFFGLSLALHLLTLCCYLELRSELRRERGAESRLGG SGTPGTSGTLSSLGGLDPDSPITSHLGQPSPKQQPLEPGEAALHSDSQDGHQMALLNFFFPDEKPYSEEESRRVRRNKRS KSNEGADGPVKNKKKGKKAGPPGPNGPPGPPGPPGPQGPPGIPGIPGIPGTTVMGPPGPPGPPGPQGPPGLQGPSGAADK AGTRENQPAVVHLQGQGSAIQVKNDLSGGVLNDCSRITMNPKVFKLHPRSGELEVLVDGTYFIYSQVEVYYINFTDFASY EVVVDEKPFLQCTRSIETGKTNYNTCYTAGVCLLKARQKIAVKMVHADISINMSKHTTFFGAIRLGEAPAS*

Gene Symbol:	EDA
Accession:	NM_001005609
Location:	EXON
Amino Acid Prediction:	W to C (nonsynonymous)
Amino Acid Position:	274

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGYPEVERRELLPAAAPRERGSQGCGCGGAPARAGEGNSCLLFLGFFGLSLALHLLTLCCYLELRSELRRERGAESRLGG SGTPGTSGTLSSLGGLDPDSPITSHLGQPSPKQQPLEPGEAALHSDSQDGHQMALLNFFFPDEKPYSEEESRRVRRNKRS KSNEGADGPVKNKKKGKKAGPPGPNGPPGPPGPPGPQGPPGIPGIPGIPGTTVMGPPGPPGPPGPQGPPGLQGPSGAADK AGTRENQPAVVHLQGQGSAIQVKNDLSGGVLNDCSRITMNPKVFKLHPRSGELEVLVDGTYFIYSQVYYINFTDFASYEV VVDEKPFLQCTRSIETGKTNYNTCYTAGVCLLKARQKIAVKMVHADISINMSKHTTFFGAIRLGEAPAS*

Gene Symbol:	EDA
Accession:	XM_017029337
Location:	INTRON

Gene Symbol:	EDA
Accession:	NM_001005613
Location:	INTRON

Gene Symbol:	EDA
Accession:	NM_001005610
Location:	INTRON

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

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:24033266

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000037187	CLINVAR
dbSNP (RS)	rs397516675	CLINVAR
MedGen	C0162359	CLINVAR
NCBI Gene	EDA	CLINVAR
OMIM	300451	CLINVAR
	305100	CLINVAR
SNOMED CT	239007005	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:8607027 - Homo sapiens

Imported Disease Annotations - ClinVar