RGD:8600280 Rat Genome Database

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Variant: RGD:8600280 -  Homo sapiens

RGD ID: 8600280
RS ID: rs5352
ClinVar ID: CV31677
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EDNRB  EDNRB-AS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 13 78,475,230
GRCh38 13 77,901,095
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000013.11:g.77901095C>T
NC_000013.10:g.78475230C>T
NP_000106.1:p.Ser305Asn
NP_001188326.1:p.Ser395Asn
More...
03/05/2019 intron variant|missense variant risk factor|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance neonatal/infancy 1-5 / 10 000|1-9 / 100 000 AllHighlyPenetrant; Hirschsprung disease 2; Hirschsprung disease with pigmentary anomaly; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD; none provided; WAARDENBURG SYNDROME WITH HIRSCHSPRUNG DISEASE, TYPE 4A; WAARDENBURG SYNDROME WITHOUT DYSTOPIA CANTHORUM
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:EDNRB
Accession:NM_001201397
Location:EXON
Amino Acid Prediction: S to I (nonsynonymous)
Amino Acid Position: 395
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNKSTCLMAAETPSKRWRLHCLAFSQRFVRAGPACSSREACSSPRAGWNPAGFRLPGRWSPFVALHLVCQIREALKLRSG
HRTPSGAGSSMQPPPSLCGRALVALVLACGLSRIWGEERGFPPDRATPLLQTAEIMTPPTKTLWPKGSNASLARSLAPAE
VPKGDRTAGSPPRTISPPPCQGPIEIKETFKYINTVVSCLVFVLGIIGNSTLLRIIYKNKCMRNGPNILIASLALGDLLH
IVIDIPINVYKLLAEDWPFGAEMCKLVPFIQKASVGITVLSLCALSIDRYRAVASWSRIKGIGVPKWTAVEIVLIWVVSV
VLAVPEAIGFDIITMDYKGSYLRICLLHPVQKTAFMQFYKTAKDWWLFSFYFCLPLAITAFFYTLMTCEMLRKKIGMQIA
LNDHLKQRREVAKTVFCLVLVFALCWLPLHLSRILKLTLYNQNDPNRCELLSFLLVLDYIGINMASLNSCINPIALYLVS
KRFKNCFKSCLCCWCQSFEEKQSLEEKQSCLKFKANDHGYDNFRSSNKYSSS*

Gene Symbol:EDNRB
Accession:NM_003991
Location:EXON
Amino Acid Prediction: S to I (nonsynonymous)
Amino Acid Position: 305
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQPPPSLCGRALVALVLACGLSRIWGEERGFPPDRATPLLQTAEIMTPPTKTLWPKGSNASLARSLAPAEVPKGDRTAGS
PPRTISPPPCQGPIEIKETFKYINTVVSCLVFVLGIIGNSTLLRIIYKNKCMRNGPNILIASLALGDLLHIVIDIPINVY
KLLAEDWPFGAEMCKLVPFIQKASVGITVLSLCALSIDRYRAVASWSRIKGIGVPKWTAVEIVLIWVVSVVLAVPEAIGF
DIITMDYKGSYLRICLLHPVQKTAFMQFYKTAKDWWLFSFYFCLPLAITAFFYTLMTCEMLRKKIGMQIALNDHLKQRRE
VAKTVFCLVLVFALCWLPLHLSRILKLTLYNQNDPNRCELLSFLLVLDYIGINMASLNSCINPIALYLVSKRFKNCFKAG
PHVGNKLVMLFSVNIECDGTVNQNPTMWPERKSNNN*

Gene Symbol:EDNRB
Accession:NM_001122659
Location:EXON
Amino Acid Prediction: S to I (nonsynonymous)
Amino Acid Position: 305
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQPPPSLCGRALVALVLACGLSRIWGEERGFPPDRATPLLQTAEIMTPPTKTLWPKGSNASLARSLAPAEVPKGDRTAGS
PPRTISPPPCQGPIEIKETFKYINTVVSCLVFVLGIIGNSTLLRIIYKNKCMRNGPNILIASLALGDLLHIVIDIPINVY
KLLAEDWPFGAEMCKLVPFIQKASVGITVLSLCALSIDRYRAVASWSRIKGIGVPKWTAVEIVLIWVVSVVLAVPEAIGF
DIITMDYKGSYLRICLLHPVQKTAFMQFYKTAKDWWLFSFYFCLPLAITAFFYTLMTCEMLRKKIGMQIALNDHLKQRRE
VAKTVFCLVLVFALCWLPLHLSRILKLTLYNQNDPNRCELLSFLLVLDYIGINMASLNSCINPIALYLVSKRFKNCFKSC
LCCWCQSFEEKQSLEEKQSCLKFKANDHGYDNFRSSNKYSSS*

Gene Symbol:EDNRB
Accession:NM_000115
Location:EXON
Amino Acid Prediction: S to I (nonsynonymous)
Amino Acid Position: 305
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQPPPSLCGRALVALVLACGLSRIWGEERGFPPDRATPLLQTAEIMTPPTKTLWPKGSNASLARSLAPAEVPKGDRTAGS
PPRTISPPPCQGPIEIKETFKYINTVVSCLVFVLGIIGNSTLLRIIYKNKCMRNGPNILIASLALGDLLHIVIDIPINVY
KLLAEDWPFGAEMCKLVPFIQKASVGITVLSLCALSIDRYRAVASWSRIKGIGVPKWTAVEIVLIWVVSVVLAVPEAIGF
DIITMDYKGSYLRICLLHPVQKTAFMQFYKTAKDWWLFSFYFCLPLAITAFFYTLMTCEMLRKKIGMQIALNDHLKQRRE
VAKTVFCLVLVFALCWLPLHLSRILKLTLYNQNDPNRCELLSFLLVLDYIGINMASLNSCINPIALYLVSKRFKNCFKSC
LCCWCQSFEEKQSLEEKQSCLKFKANDHGYDNFRSSNKYSSS*

Gene Symbol:EDNRB-AS1
Accession:NR_103853
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:8852659   PMID:10090908   PMID:10874640   PMID:16145050   PMID:16954478   PMID:19320733   PMID:20009762   PMID:21507037   PMID:22993632   PMID:22995991   PMID:24033266   PMID:25741868  
PMID:26467025   PMID:27535533   PMID:28492532   PMID:29407415  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000018118 CLINVAR
  RCV000222856 CLINVAR
  RCV000626404 CLINVAR
  RCV000659497 CLINVAR
  RCV000954472 CLINVAR
  RCV001258252 CLINVAR
dbSNP (RS) rs5352 CLINVAR
MedGen C1838564 CLINVAR
  C1848519 CLINVAR
  C1860339 CLINVAR
  C3661900 CLINVAR
  C4310676 CLINVAR
  CN169374 CLINVAR
NCBI Gene EDNRB CLINVAR
  EDNRB-AS1 CLINVAR
OMIM 131244 CLINVAR
  193510 CLINVAR
  277580 CLINVAR
  600155 CLINVAR
  617184 CLINVAR
OMIM Allele 131244.0006 CLINVAR