RGD:127281811 Rat Genome Database

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Variant: RGD:127281811 -  Homo sapiens

RGD ID: 127281811
RS ID: rs201587159
ClinVar ID: CV1106358
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HAMP  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 35,775,758
GRCh38 19 35,284,855
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_791t1:c.150+7G>C
NM_021175.4:c.150+7G>C
LRG_791:g.7349G>C
NG_011563.2:g.7349G>C
More... 		02/04/2020 intron variant likely benign AllHighlyPenetrant
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HAMP
Accession:NM_021175
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001447385 CLINVAR
  RCV003321844 CLINVAR
dbSNP (RS) rs201587159 CLINVAR
MedGen C0392514 CLINVAR
  CN169374 CLINVAR
NCBI Gene HAMP CLINVAR
OMIM 235200 CLINVAR
  606464 CLINVAR
SNOMED CT 35400008 CLINVAR