RGD:11610449 Rat Genome Database

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Variant: RGD:11610449 -  Homo sapiens

RGD ID: 11610449
RS ID: rs28371563
ClinVar ID: CV311115
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GHRHR  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 31,019,080
GRCh38 7 30,979,465
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_021416.1:g.20445T>C
NC_000007.14:g.30979465T>C
NC_000007.13:g.31019080T>C
NM_000823.4:c.*221T>C
More... 		06/19/2021 3 prime utr variant benign|likely benign IGHD 1B; IGHD IB; Isolated growth hormone deficiency type 1B; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GHRHR
Accession:NM_000823
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000381561 CLINVAR
  RCV001653724 CLINVAR
dbSNP (RS) rs28371563 CLINVAR
MedGen C2748571 CLINVAR
  C3661900 CLINVAR
NCBI Gene GHRHR CLINVAR
OMIM 139191 CLINVAR
  612781 CLINVAR