rs2103042605 Rat Genome Database

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Variant: rs2103042605 -  Homo sapiens

RGD ID: 151348520
RS ID: rs2103042605
ClinVar ID: CV1324072
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EDARADD  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 236,645,660
GRCh38 1 236,482,360
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_145861.4:c.359A>C
NG_011566.1:g.92981A>C
NP_542776.1:p.Asp110Ala
NP_665860.2:p.Asp120Ala
More... 		01/03/2022 missense variant likely pathogenic
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1324072Humanectodermal dysplasia 11A  IAGP 8554872ClinVar Annotator: match by term: Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominantClinVarPMID:25741868
Gene Symbol:EDARADD
Accession:NM_145861
Location:EXON
Amino Acid Prediction: D to A (nonsynonymous)
Amino Acid Position: 120
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLRTTKQMGRGTKAPGHQEDHMVKEPVEDTDPSTLSFNMSDKYPIQDTELPKAEECDTITLNCPRNSDMKNQGEENGFP
DSTGDPLPEISKDNSCKENCTCSSCLLRAPTISDLLNDQALLDVIRIKLDPCHPTVKNWRNFASKWGMSYDELCFLEQRP
QSPTLEFLLRNSQRTVGQLMELCRLYHRADVEKVLRRWVDEEWPKRERGDPSRHF*

Gene Symbol:EDARADD
Accession:NM_080738
Location:EXON
Amino Acid Prediction: D to A (nonsynonymous)
Amino Acid Position: 110
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASPDDPLRADHMVKEPVEDTDPSTLSFNMSDKYPIQDTELPKAEECDTITLNCPRNSDMKNQGEENGFPDSTGDPLPEI
SKDNSCKENCTCSSCLLRAPTISDLLNDQALLDVIRIKLDPCHPTVKNWRNFASKWGMSYDELCFLEQRPQSPTLEFLLR
NSQRTVGQLMELCRLYHRADVEKVLRRWVDEEWPKRERGDPSRHF*

Gene Symbol:EDARADD
Accession:NM_001422628
Location:EXON
Amino Acid Prediction: D to A (nonsynonymous)
Amino Acid Position: 98
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVKEPVEDTDPSTLSFNMSDKYPIQDTELPKAEECDTITLNCPRNSDMKNQGEENGFPDSTGDPLPEISKDNSCKENCTC
SSCLLRAPTISDLLNDQALLDVIRIKLDPCHPTVKNWRNFASKWGMSYDELCFLEQRPQSPTLEFLLRNSQRTVGQLMEL
CRLYHRADVEKVLRRWVDEEWPKRERGDPSRHF*
.
PMID:25741868  



Database
Acc Id
Source(s)
ClinVar RCV001807985 CLINVAR
dbSNP (RS) rs2103042605 CLINVAR
MedGen C3541517 CLINVAR
NCBI Gene EDARADD CLINVAR
OMIM 606603 CLINVAR
  614940 CLINVAR