RGD:12742213 Rat Genome Database

Variant: RGD:12742213 - Homo sapiens

RGD ID:

12742213

RS ID:

rs1057517731

ClinVar ID:

CV360646

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

EDA

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	X	69,253,281
GRCh38	X	70,033,431

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	Trait Synonyms
NG_009809.2:g.422365G>T NC_000023.11:g.70033431G>T NC_000023.10:g.69253281G>T NP_001390.1:p.Arg276Leu More...	08/31/2021	missense variant	pathogenic\|likely pathogenic	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

ectodermal dysplasia 1 (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	EDA
Accession:	XM_011530885
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	276

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

Gene Symbol:	EDA
Accession:	NM_001005612
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	273

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

Gene Symbol:	EDA
Accession:	XM_006724630
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	273

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

Gene Symbol:	EDA
Accession:	NM_001399
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	276

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

Gene Symbol:	EDA
Accession:	XM_017029336
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	276

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

Gene Symbol:	EDA
Accession:	NM_001005609
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	276

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

Gene Symbol:	EDA
Accession:	XM_017029337
Location:	INTRON

Gene Symbol:	EDA
Accession:	NM_001005610
Location:	INTRON

Gene Symbol:	EDA
Accession:	NM_001005613
Location:	INTRON

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

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:19921643	PMID:21357618	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000413141	CLINVAR
	RCV001865280	CLINVAR
dbSNP (RS)	rs1057517731	CLINVAR
MedGen	C0162359	CLINVAR
	C3661900	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:12742213 - Homo sapiens

Imported Disease Annotations - ClinVar