RGD:8600282 Rat Genome Database

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Variant: RGD:8600282 -  Homo sapiens

RGD ID: 8600282
RS ID: rs104894391
ClinVar ID: CV31679
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EDNRB  EDNRB-AS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 13 78,477,491
GRCh38 13 77,903,356
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000013.11:g.77903356G>A
NC_000013.10:g.78477491G>A
NP_000106.1:p.Arg201Ter
NP_003982.1:p.Arg201Ter
More... 		07/08/2022 intron|intron variant|nonsense|stop-gain pathogenic Albinism, Black lock, Cell migration disorder of the neurocytes of the gut and Deafness; Hirschsprung disease with pigmentary anomaly; none provided; WAARDENBURG SYNDROME WITH HIRSCHSPRUNG DISEASE, TYPE 4A
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:EDNRB
Accession:NM_001122659
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 201
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQPPPSLCGRALVALVLACGLSRIWGEERGFPPDRATPLLQTAEIMTPPTKTLWPKGSNASLARSLAPAEVPKGDRTAGS
PPRTISPPPCQGPIEIKETFKYINTVVSCLVFVLGIIGNSTLLRIIYKNKCMRNGPNILIASLALGDLLHIVIDIPINVY
KLLAEDWPFGAEMCKLVPFIQKASVGITVLSLCALSIDRYRAVASWSRIKGIGVPKWTAVEIVLIWVVSVVLAVPEAIGF
DIITMDYKGSYLRICLLHPVQKTAFMQFYKTAKDWWLFSFYFCLPLAITAFFYTLMTCEMLRKKSGMQIALNDHLKQRRE
VAKTVFCLVLVFALCWLPLHLSRILKLTLYNQNDPNRCELLSFLLVLDYIGINMASLNSCINPIALYLVSKRFKNCFKSC
LCCWCQSFEEKQSLEEKQSCLKFKANDHGYDNFRSSNKYSSS*

Gene Symbol:EDNRB
Accession:NM_001201397
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 291
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNKSTCLMAAETPSKRWRLHCLAFSQRFVRAGPACSSREACSSPRAGWNPAGFRLPGRWSPFVALHLVCQIREALKLRSG
HRTPSGAGSSMQPPPSLCGRALVALVLACGLSRIWGEERGFPPDRATPLLQTAEIMTPPTKTLWPKGSNASLARSLAPAE
VPKGDRTAGSPPRTISPPPCQGPIEIKETFKYINTVVSCLVFVLGIIGNSTLLRIIYKNKCMRNGPNILIASLALGDLLH
IVIDIPINVYKLLAEDWPFGAEMCKLVPFIQKASVGITVLSLCALSIDRYRAVASWSRIKGIGVPKWTAVEIVLIWVVSV
VLAVPEAIGFDIITMDYKGSYLRICLLHPVQKTAFMQFYKTAKDWWLFSFYFCLPLAITAFFYTLMTCEMLRKKSGMQIA
LNDHLKQRREVAKTVFCLVLVFALCWLPLHLSRILKLTLYNQNDPNRCELLSFLLVLDYIGINMASLNSCINPIALYLVS
KRFKNCFKSCLCCWCQSFEEKQSLEEKQSCLKFKANDHGYDNFRSSNKYSSS*

Gene Symbol:EDNRB
Accession:NM_000115
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 201
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQPPPSLCGRALVALVLACGLSRIWGEERGFPPDRATPLLQTAEIMTPPTKTLWPKGSNASLARSLAPAEVPKGDRTAGS
PPRTISPPPCQGPIEIKETFKYINTVVSCLVFVLGIIGNSTLLRIIYKNKCMRNGPNILIASLALGDLLHIVIDIPINVY
KLLAEDWPFGAEMCKLVPFIQKASVGITVLSLCALSIDRYRAVASWSRIKGIGVPKWTAVEIVLIWVVSVVLAVPEAIGF
DIITMDYKGSYLRICLLHPVQKTAFMQFYKTAKDWWLFSFYFCLPLAITAFFYTLMTCEMLRKKSGMQIALNDHLKQRRE
VAKTVFCLVLVFALCWLPLHLSRILKLTLYNQNDPNRCELLSFLLVLDYIGINMASLNSCINPIALYLVSKRFKNCFKSC
LCCWCQSFEEKQSLEEKQSCLKFKANDHGYDNFRSSNKYSSS*

Gene Symbol:EDNRB
Accession:NM_003991
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 201
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQPPPSLCGRALVALVLACGLSRIWGEERGFPPDRATPLLQTAEIMTPPTKTLWPKGSNASLARSLAPAEVPKGDRTAGS
PPRTISPPPCQGPIEIKETFKYINTVVSCLVFVLGIIGNSTLLRIIYKNKCMRNGPNILIASLALGDLLHIVIDIPINVY
KLLAEDWPFGAEMCKLVPFIQKASVGITVLSLCALSIDRYRAVASWSRIKGIGVPKWTAVEIVLIWVVSVVLAVPEAIGF
DIITMDYKGSYLRICLLHPVQKTAFMQFYKTAKDWWLFSFYFCLPLAITAFFYTLMTCEMLRKKSGMQIALNDHLKQRRE
VAKTVFCLVLVFALCWLPLHLSRILKLTLYNQNDPNRCELLSFLLVLDYIGINMASLNSCINPIALYLVSKRFKNCFKAG
PHVGNKLVMLFSVNIECDGTVNQNPTMWPERKSNNN*

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

Variant Samples
Additional References at PubMed
PMID:7778600   PMID:8001159   PMID:10528251   PMID:11891690   PMID:20127975   PMID:25741868   PMID:28492532   PMID:30394532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000018120 CLINVAR
  RCV000659496 CLINVAR
  RCV001092078 CLINVAR
dbSNP (RS) rs104894391 CLINVAR
MedGen C1838099 CLINVAR
  C1848519 CLINVAR
  C3661900 CLINVAR
NCBI Gene EDNRB CLINVAR
  EDNRB-AS1 CLINVAR
OMIM 131244 CLINVAR
  277580 CLINVAR
  600501 CLINVAR
OMIM Allele 131244.0008 CLINVAR