RGD:13830785 Rat Genome Database

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Variant: RGD:13830785 -  Homo sapiens

RGD ID: 13830785
RS ID: rs1563402708
ClinVar ID: CV579481
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CRH  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 67,089,134
GRCh38 8 66,176,899
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016127.1:g.6565T>C
NC_000008.11:g.66176899A>G
NC_000008.10:g.67089134A>G
NM_000756.2:c.579T>C
More...
03/28/2017 synonymous variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CRH
Accession:NM_000756
Location:EXON
Amino Acid Prediction: I to I (synonymous)
Amino Acid Position: 193
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLPLLVSAGVLLVALLPCPPCRALLSRGPVPGARQAPQHPQPLDFFQPPPQSEQPQQPQARPVLLRMGEEYFLRLGNLN
KSPAAPLSPASSLLAGGSGSRPSPEQATANFFRVLLQQLLLPRRSLDSPAALAERGARNALGGHQEAPERERRSEEPPIS
LDLTFHLLREVLEMARAEQLAQQAHSNRKLMEIIGK*

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002318863 CLINVAR
dbSNP (RS) rs1563402708 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene CRH CLINVAR
OMIM 122560 CLINVAR